In view of a high incidence of vision, refraction and motility abnormalities, orthoptic and ophthalmic evaluation is indicated for nonsyndromic unicoronal craniosynostosis and all syndromic types of craniosynostosis. Referral for evaluation is initiated at the first consultation in the tertiary center.
Follow-up is arranged dependent on the results.
12. OBSTRUCTIVE SLEEP APNEA SYNDROME
1. What is the prevalence of OSAS in the different types of syndromic craniosynostosis?
2. What screening method (type and frequency) is indicated to timely detect OSAS?
3. How can OSAS be prevented or treated?
The OSAS is characterized by episodes of partial and (or) complete upper airway obstruction during sleep state.298–300 These may lead to hypercapnia, hypoxemia, and abnormal sleep architecture. Dependent on the severity of the syndrome, vital dysfunctions to even fatal pulmonary heart disease may occur.
The clinical symptoms are diverse and are distinguished into those occurring in the night: troubled sleep, snoring, apneas, bedwetting and perspiration, and those occurring in the day: dry mouth when waking up in the morning, fatigue, impaired cognitive functioning, poor school performance, and behavioral disorders. Disturbed growth may occur at the long term.
Children with craniosynostosis syndromes are among the risk groups for OSAS.
Early identification is of great importance in view of the severe consequences of OSAS, and considering that good treatment modalities are available.
Question 1: What Is the Prevalence of OSAS in the Different Types of Syndromic Craniosynostosis?
The most reliable method to determine the prevalence of OSAS is polysomnography (PSG). Not all studies on the prevalence of OSAS in craniosynostosis, however, use PSG; some apply another method, such as history taking, questionnaire, or desaturation-index.
Järund301 retrospectively evaluated the clinical data of 73 patients with Apert, Crouzon or Pfeiffer syndrome and found that OSAS had been confirmed using PSG in 24%. Kakitsuba302 performed PSG in 6 patients with a craniofacial synostosis and identified OSAS in 4 of them (67%). In another study, Järund303 established a 61% OSAS prevalence with the use of pulse oximetry in children with craniofacial malformations in whom OSAS was suspected. Pijpers304 retrospectively evaluated the occurrence of airway obstruction in 72 children with Apert (N = 28), Crouzon (N = 30), or Pfeiffer syndrome (N = 14). Children's mean age was 9.3 years (0–17 years). Polysomnography had been performed in only 11 children. Symptoms of airway obstruction had been documented for 19 children (26%). Sirotnak305 conducted a review of 11 studies in children with Crouzon syndrome and established a 41% prevalence of airway obstruction. This review does not provide details on the methods used to detect breathing problems. Fearon147 described a series of 28 patients with Pfeiffer syndrome. Tracheotomy was performed in 17 patients (61%) on account of respiratory problems, which were in part ascribed to abnormalities of the trachea (stenosis). De Jong54 recently reported on the prevalence of OSAS in a group of 167 patients with syndromic craniosynostosis. Obstructive sleep apnea syndrome, diagnosed by means of an abnormal saturation profile, was seen in 31% of the patients with Apert syndrome, in 27% of patients with Crouzon/Pfeiffer syndrome, and in 5% of the patients with Muenke or Saethre-Chotzen syndrome (7).
Although OSAS was diagnosed with different methods, we may conclude that the prevalence of OSAS in syndromic craniosynostosis is high.
Question 2: What Screening Method Is Indicated to Timely Detect OSAS?
General Diagnostics of OSAS History
Informing after symptoms related to OSAS is of essential value:Troubled sleep, snoring, apneas, skin discoloration, bedwetting, perspiration; and in the daytime: as an expression of hypoxemia , respectively , and a restless sleep pattern , with both periods of arousal and also periods of deep sleep: dry mouth when waking up in the morning, fatigue, impaired cognitive functioning, poor school performance and behavioral disorders.
Brouillette306 developed a scoring system based on the following nightly symptoms:
The OSAS score is calculated with the following formula: 1.42 a + 1.41 b + 0.71 c – 3.83
Obstructive sleep apnea syndrome is considered to be present at a score >3.5. At the time of this writing this is the only scoring system applied in children suspected of OSAS.
Parental observation of video images of the child's breathing pattern during sleep could help making the diagnosis.
Bannink,307 in a study in a large group of children with syndromic craniosynostosis, showed that a negative answer to the question ‘breathing problems during sleep?’ may be sufficient to exclude moderate or severe OSAS.
Continuous saturation measurement during sleep in combination with blood gas analysis may provide insight into the severity of the OSAS.
Polysomnography is essential, however, to diagnose OSAS with certainty, and to accurately determine its severity. Polysomnography simultaneously registers oronasal airflow, thoracic movements, abdominal movements, transcutaneous saturation, and heart rate. Furthermore, the sleep stages can be monitored with neurophysiologic examination (EEG, EOG, and EMG).
Inspection of the upper airway by the ENT-physician, if necessary supplemented with endoscopy, is indicated in patients with severe obstructive symptoms. Obstruction may be present at multiple locations—in the nose, rhinopharynx, oropharynx, and hypopharynx—but also in the larynx or trachea. Diagnoses are: narrow nose, septum deviation, allergic or nonallergic rhinitis, choanal atresia, adenoid hypertrophy, midface hypoplasia, abnormal skull base, tonsillar hypertrophy, macroglossia, abnormal palate, retro- or micrognathia, laryngeal stenosis, fused tracheal rings. Once the obstruction has been localized, more targeted treatment can be started.
Imaging diagnostics (CT/MRI) of the obstructed area could provide further information.
To further map the consequences of severe OSAS, cardiologic examination is indicated to evaluate right ventricular hypertrophy or pulmonary hypertension.
Grading of Severity of OSAS
The use of an apnea-hypopnea index (AHI) and an oxygenation-desaturation index (ODI) is recommended to grade nocturnal respiratory problems.
Brouillette306 showed that an abnormal saturation measurement on the basis of the ODI only had a 97% positive predictive value for the diagnosis of OSAS in a group of healthy children >1 year with OSAS as a consequence of adenotonsillar hypertrophy. Saturation measurement is not reliable, however, to exclude OSAS (negative predictive value 47%). It is not known whether this holds true also for children with a syndromic craniosynostosis.
Polysomnography in addition permits to determine an arousal index, in which the total number of events is expressed as a respiratory disorder index. Traditionally, many studies in children applied criteria of OSAS applicable to adults. There, however, is growing evidence that mild nocturnal breathing problems and snoring may have neuropsychologic consequences. A major difference between children and adults with OSAS is that children may experience longer periods of partial airway obstruction during sleep, often without arousals or desaturations, but still with increased CO2 concentration or increased breathing effort (which can be measured with an esophageal pressure measurement). Partial upper airway obstruction leading to “upper airway resistance syndrome” may be underestimated if only the AHI is used to diagnose OSAS.
The morbidity from each separate respiratory parameter (ie, AHI, intermittent hypoxia, hypercapnia, or sleep fragmentation by arousals), however, is unknown.308
The various guidelines distinguish between mild, moderate, and severe OSAS. Guilleminault309 provided a much-used classification of OSAS based on the sum total of the number of apneas and hypopneas. Brietzke310 in a systematic review reported the cutoff values used to classify OSAS. This review addressed the question whether history taking and physical examination would permit to adequately diagnose obstructive sleep apnea/hypopnea syndrome. In 4 studies, an AHI of >1 per hour was used as cutoff value,311–314 in 2 studies an AHI of >5/hr,315,316 and in 1 study an AHI >15/hr.317 One other study established severe OSAS on the basis of an AHI >10/hr and/or desaturation <75%.
Next to cutoff values for the AHI, the following parameters should be determined to achieve comprehensive grading of OSAS distinguishing between mild, moderate, and severe: depth of desaturation, end tidal CO2 peak level, total period of sleep in which the CO2 value is >50 cm Hg, and number of arousals per hour. Table 17 presents an overview of the most-used definitions provided by different authors.
Basically, OSAS in children with syndromic craniosynostosis is diagnosed in the same way as in other children. The clinical history may raise suspicion of OSAS. Many children with syndromic craniosynostosis will be snoring, but this symptom is not discriminative for OSAS.
The golden standard is PSG, with level or number of channels dependent on the availability of equipment and the aim of the screening. The above-mentioned criteria for the diagnosis of OSAS are applicable, in principle, to all diagnostic groups.
Gonsalez260 investigated the occurrence of OSAS in 13 children with syndromic craniosynostosis with PSG using 5 channels: arterial oxygen saturation, heart rate, thoracic movements, abdominal movements, and ECG. Nasal flow was not measured. OSAS was classified as mild, moderate, or severe on the basis of the PSG profiles and clinical observation, that is, the degree of respiratory efforts, snoring, and inspiratory recessions. On the basis of these criteria, OSAS was diagnosed in 11 of the 13 children.
Hayward (2005)241 investigated the relation between OSAS and increased ICP in 11 children with syndromic craniosynostosis. Obstructive sleep apnea syndrome was diagnosed using the same method as in the previous study by Gonzales,260 with in addition measurement of the oro-nasal flow. The presence of OSAS was established in all children.
Question 3: How Can OSAS Be Prevented or Treated?
Treatment of OSAS in General (See Also Guideline on Pediatric OSAS)
Type of treatment of OSAS in craniosynostosis is determined by severity of the symptoms and location of the obstruction, and is aimed at improving upper airway patency. Treatment may be pharmacological, for example, nasal corticosteroid spray or antibiotics; surgical, for example adenotonsillectomy; or nonsurgical, for example, nocturnal O2 administration or continuous/bi-level positive airway pressure ((continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP)).318–321
Conservative measures are often successful in the milder types of OSAS, such as extensive nasal irrigation (saline lavage and air spraying), treatment of intercurrent infections, and assuring a specific sleep position.
Oxygen therapy may be indicated in nocturnal hypoxia, but only after having confirmed that the hypercapnia will not worsen as a result of reduced breathing activity after loss of the hypoxic drive in chronic hypercapnia.
Adenotonsillectomy is almost always the treatment of first choice (also when adenoid and tonsils are not notably enlarged) from toddler-age in healthy children with more prominent OSAS. Little is known about the effect of adenotonsillectomy on OSAS symptoms in children with syndromic craniosynostosis. Amonoo-Kuofi322 conducted a retrospective analysis on the effect of adenotonsillectomy in a group of 26 children with syndromic craniosynostosis and moderate or severe OSAS. The criteria for mild, moderate, or severe OSAS had been established by the researchers themselves from a combination of clinical observation and a sleep study. Adenotonsillectomy had been performed at a mean age of 4.5 years (range 1.6–13.9 years). Preoperatively, OSAS was severe in 7 children, moderate in 11, and mild in 7. Postoperatively, severe OSAS was still found in 3 children, moderate in 6, mild in 1, while 5 children had no longer symptoms of OSAS. The authors concluded that respiration had improved in 60% of the children. Therefore, adenotonsillectomy is the treatment of first choice in children with syndromic craniosynostosis and sleep-related respiratory problems. The authors propose that adenotonsillectomy may be beneficial also if the tonsils are small, and emphasize that multiple factors may underlie the respiratory problems and that supplementary therapy may be needed.
In craniofacial deformities, suturing of the tonsillar pillars may be considered, upon which scar retraction may further contribute to widening of the airways.
Occasionally, placement of a nasopharyngeal tube (NTP) may be necessary before more definitive treatment is initiated. Ahmed323 evaluated the effect of initial NTP placement on moderate or severe OSAS in 27 children with a syndromic craniosynostosis. Mean age at nocturnal penile tumescence (NPT) placement was 12.3 months, range 0.5–48 months. Seventeen children had severe OSAS; 10 children moderate OSAS. After NPT placement, airway obstruction and saturation profile had improved in 26 of the 27 children (96%). The criteria for mild, moderate, or severe OSAS had been established by the researchers themselves from a combination of clinical observation and a sleep study. For 26 of the 27 children, treatment could be evaluated at the longer term. After 6 weeks, 24 children still had the NPT in place (1 child still underwent tracheotomy and 1 child died from a cause unrelated to the respiratory tract). Nocturnal penile tumescence remained the sole treatment in 23 of the 26 children, 6 months after placement and in 17 of the 26 children 12 months after placement. Having a NTP in place, however, may be very uncomfortable and even not be tolerated, may cause mucosal retention, and lead to comorbidity, such as fibrosis in the nasal cavity or chronic otitis media. In the study of Ahmed,323 however, there were few complications and tolerance was high.
Mandibular distraction techniques and midface advancement have been widely applied in syndromic craniosynostosis for several years. Foreward advancement of bony structures will increase the posterior–anterior diameter of the pharynx.324
Six recent studies looked into the effect of a Le Fort III correction or a monobloc advancement procedure. In 5 of the 6 studies, a retrospective analysis was performed.
Nelson325 retrospectively evaluated the effect of a Le Fort III distraction procedure in 25 children with syndromic craniosynostosis (age 10.4 ± 4.2 years), 18 children of whom preoperatively had respiratory problems. Six of these 18 children had a tracheostomy preoperatively, and decannulation was possible in 5 postoperatively. Preoperatively, 9 children received respiratory support with CPAP or BIPAP, which could be discontinued in 6 children after the operation. Polysomnography was performed both preoperatively and postoperatively in the 12 children without tracheostomy. In 10 children, the respiratory index improved from 33.4 to 12.6 (P < 0.05). In 2 children with a Chiari malformation associated with severe central apneas, the respiratory index did not improve. The authors concluded that a Le Fort III distraction has a clearly positive effect on the airway obstruction and that the improvement is dependent on the operative technique used. The authors point out that a number of children showed persisting respiratory problems postoperatively, as a consequence of insufficient widening, central apneas, or respiratory problems located below the level of the nasopharynx. The auteurs recommend assessing level of obstruction (endoscopy or dynamic MRI) before undertaking a Le Fort III procedure.
Fearon181 retrospectively evaluated the effect of a Le Fort III procedure with halo distraction in 51 children with syndromic craniosynostosis (mean age 8 years, range 3–16 years). Preoperative and postoperative PSG had been performed in 12 children. Postoperatively the respiratory index had improved from 24/hr. to 11/hr. (P = 0.004). Four children had a tracheostomy, which could be removed in three. The authors concluded that in 13 of the 16 children with respiratory tract problems the operation had led to improved respiration. They commented, however, that although maxillary hypoplasia plays a central role, multiple factors may underlie airway obstruction.
Arnaud144 prospectively investigated in a group of 36 children with syndromic craniosynostosis (mean age 5.2 years) the effect of frontofacial monobloc advancement with the use of an internal distractor. Sixteen children showed upper airways problems, for which 6 needed a tracheostomy, while in the other 10 children saturation regularly decreased to <95%. Postoperatively, 4 of 6 children could be decannulated and desaturations were no longer seen in 8 of the 10 children.
Witherow209 retrospectively analyzed long-term outcome (mean follow-up 24 months, range 6 months to 4 years) of monobloc advancement with distraction in 20 children (mean age 7.8 years, range 2–16 years). Seventeen children had an upper airway obstruction, but test results or PSG are not mentioned. Of the 7 children who needed a tracheostomy, 5 could be decannulated and CPAP could be stopped in 2 of the 5 children treated with CPAP.
Mathijssen compared the effect on respiration of a Le Fort III procedure (n=24, mean age 6 years, range 4 months to 18 years) with that of a frontofacial monobloc (N = 35, mean age 4.5 years, range 7 months to 13 years).326 Respiratory problems were classified as mild in the case of snoring in combination with normal PSG, and as severe if saturation decreased to below 90% or if the child had a tracheostomy. Nine children who underwent a Le Fort III procedure showed respiratory problems preoperatively, 7 children had a tracheostomy. Postoperatively, 4 children could be decannulated and symptoms disappeared in 2 children with mild or severe respiratory problems. Respiratory symptoms recurred in 2 children. Twenty-five children who underwent a monobloc procedure showed respiratory problems preoperatively. Of the 6 children with a tracheostomy, 4 could be decannulated. Symptoms improved in 17 of the 19 children with mild or severe respiratory problems.
Flores327 retrospectively analyzed airway changes in 20 children with syndromic craniosynostosis after a Le Fort III distraction procedure. In children with respiratory problems, PSG was standardly performed preoperatively. The degree of respiratory disturbances during sleep was classified on the guidance of a respiratory disturbance index (RDI): mild 2–5, moderate 5–10, and severe >10. Disturbances were severe in 10 children, of whom 2 needed a tracheostomy. Postoperatively, 1 child could be decannulated; in the second child this was not feasible on account of a subglottic stenosis. Of the other 8 children with severe disturbances, 3 underwent PSG postoperatively, which showed lowering of the RDI. The remaining 5 children showed subjective improvement of the OSAS symptoms.
Bannink328 retrospectively evaluated the effect of a monobloc (N = 3) or a Le Fort III procedure in 11 children with syndromic craniosynostosis who received respiratory support on account of airway problems. Respiratory support consisted of oxygen (N = 3), CPAP (N = 3), NTP (N = 1) or tracheostomy (N = 4). Polysomnography had been performed in 6 children preoperatively, using the following criteria: mild OSAS AHI 1–5, moderate OSAS AHI 6–25, and severe OSAS AHI >25. On the basis of these criteria, 3 children had moderate OSAS, and 3 children had severe OSAS. At long-term follow-up, 4 of the 11 children still needed respiratory support (3 CPAP and 1 tracheostomy), whereas 1 child still showed severe OSAS symptoms (respiratory support had been discontinued).
The above studies made clear that follow-up studies are needed to demonstrate if mandibular distraction techniques have a lasting effect on OSAS. It is not fully known how long and to what extent improvement will be sustained, and what factors are involved. On the other hand, it is known that both the mandible and the maxilla will not grow in anterior direction postoperatively, which may perhaps necessitate reoperation at a later stage (Bachmayer, 1986).196 Correction of the nasal septum may also be beneficial in the treatment of OSAS.
In the above-mentioned studies reporting on the results of craniofacial surgery, from 20% to 41% of children with respiratory problems had undergone tracheostomy placement. Age at tracheotomy is mentioned in only 1 study.328 In total, 42 tracheostomies (34%) were performed in 122 children with respiratory problems. After a Le Fort III or monobloc procedure, 29 of 42 children (69%) could be decannulated.
Continuous positive airway pressure or bilevel positive airway pressure
Respiratory support by means of noninvasive treatment with CPAP or BIPAP is an accepted treatment in children. A fitting nasofacial mask, however, may not be available for children with facial deformities. In addition, anatomic narrowing of the nasopharynx may complicate application of CPAP or BIPAP. Treatment of respiratory problems with the use of CPAP or BIPAP was described in 3 recent studies.209,325,328 It was applied in 17 of the 46 children with respiratory problems in total, and could be discontinued in 8 of these17 children after a Le Fort III or monobloc procedure (47%).
Earlier, in 1996, Gonsalez et al329 reported on the effectiveness of CPAP in the treatment of OSAS in children with syndromic craniosynostosis.329 It was successful in 5 of the 8 children (age 2.2–15 years). Of the other 3 children, 1 did not tolerate the system, second withdrew from the study, and the third showed a complete obstruction of the upper airways by an enlarged adenoid.
Dependent on the severity of the symptoms in children with a craniosynostosis syndrome, it is recommended to first determine a nocturnal saturation profile. This is done by measuring the baseline saturation (normally ≥94%) and next the number of desaturations per hour (saturation <90% or ≥4% decreased compared with the baseline value during 10 seconds (ODI = oxygenation desaturation index)).Subsequently, additional PSG is indicated in children with an abnormal saturation profile or a strongly suspicious clinical history in combination with a normal saturation profile.
Many children with a syndromic craniosynostosis show an anatomic narrowing of the nose, with mouth breathing as a result. This complicates measurement of the nasal flow in a sleep study. Measuring the X-flow is the alternative in this case, although this has not yet been validated for this patient group.
There are indications that there is a relation between obstructive respiratory problems and anICP. It is not clear, however, at what degree of OSAS the intracranial pressure could increase. Still, it is likely to occur both in prolonged mild OSAS and in short-lasting severe OSAS. It is recommended, therefore, to perform comprehensivePSF, including CO2 measurement, arousal detection and video monitoring, in children with syndromic craniosynostosis who showICP.
In view of the high prevalence of OSAS in children with syndromic craniosynostosis it is mandatory to screen these children for OSAS.
If the clinical history documents nocturnal breathing problems, further evaluation for OSAS should take place.
If the medical history does not document nocturnal breathing problems, moderate and severe OSAS can be excluded, in all likelihood, and further evaluation is then, in principle, not indicated.
Symptoms of OSAS in combination with an abnormal saturation profile are strongly suspicious of OSAS. Additional PSG is indicated in this case, to be performed according to the guideline on pediatric obstructive sleep apnea syndrome (POSAS).
Polysomnography is indicated to determine OSAS severity.
Because multiple factors may underlie OSAS in children with a syndromic craniosynostosis, endoscopy of the upper airways is indicated to determine the level of obstruction.
Adenotonsillectomy is the surgical therapy of choice from toddler age if syndromic craniosynostosis is associated with OSAS.
Obstructive sleep apnea syndrome in children with syndromic craniosynostosis can be treated with the noninvasive ventilation strategies CPAP and BIPAP.
In young children with severe OSAS a nasopharyngeal tube can be used temporarily to ameliorate the symptoms.
A tracheotomy may be indicated in young children with severe OSAS.
A Le Fort III procedure or monobloc advancement should be considered in the management of respiratory problems in children with a syndromic craniosynostosis and severe OSAS requiring ventilator support.
The choice of treatment for OSAS is made on the basis of severity of the OSAS, age of the patient, causal factors, and possible other functional problems (such as ICP or exorbitism).
13. HEARING IMPAIRMENTS
1. What are the prevalences, types, and causes of hearing impairment for the different types of syndromic craniosynostosis?
2. What kind of screening is necessary to timely discover hearing loss?
There are several reasons for patients with syndromic craniosynostosis to have hearing impairments. Hearing loss can be an additional cause for developmental delay in children who already have an increased risk of such delay. This chapter gives an overview of the prevalences and types of hearing loss, and provides recommendations on screening enabling early initiation of treatment quickly. Treatment itself will not be discussed, as it is in accordance with otolaryngology guidelines.
Summary of the Literature
Since hearing loss hardly occurs in children with nonsyndromic craniosynostosis, this chapter is restricted to syndromic craniosynostosis. The literature, consisting of only a few case reports and retrospective studies with usually a very low number of patients, provides no clarity about the prevalence and the cause of hearing loss in these patients.
Otitis media with effusion (OME) is reported in all types of syndromic synostosis. Reported prevalence rates range from that equal to that of healthy peers330 to 80% to 90% of the affected children.331–334
The most recent article we found concerns a retrospective review of CT scans of the petrous parts of the temporal bone of 20 patients with Apert syndrome.335 All 20 had middle ear and inner ear deviations shown on CT. These patients were treated with tympanostomy tubes and/or hearing aids. The authors make a plea for CT scanning of the petrous part of the temporal bone of every patient with Apert syndrome, especially if the air-bone gap should persist after placing the tubes.334 For patients with Apert syndrome the presence of a cleft palate makes no difference.
One longitudinal study describes how, over time, persisting OME led to permanent sequelae such as atelectasis, perforation, and cholesteatoma in patients with Crouzon syndrome.336 In this study, ear and hearing impairment rates increased from 37% in infancy to 62% in older patients. In Pfeiffer syndrome, anatomic abnormalities of the external auditory canal and middle ear were reported in a case report on 9 patients. Four of those patients had OME as well.332
In Saethre-Chotzen syndrome, congenital middle ear abnormalities are reported in a case report on 4 patients.330
In Muenke syndrome, mild to moderate perceptive hearing loss in the lower and middle frequencies was found in from one third337 up to 95% of the reported patients.333 Honnebier146 finds in 7 of 10 patients with Muenke syndrome in whom audiometry was performed an almost identical, mild (30 dB), symmetric perceptive hearing loss in the low and middle frequencies. For 2 patients a mild asymmetric and for 1 patient a mild bilateral mixed hearing loss was found. In a retrospective analysis of 167 syndromic patients, hearing loss is reported in 72% of the patients with Apert syndrome, 50% with Crouzon syndrome/Pfeiffer syndrome, 67% with Muenke syndrome, and 37% with Saethre-Chotzen.54
Based on the auditory brainstem response (ABR) in syndromic craniosynostosis and event-related potentials (ERP) in children,335 including patients with frontal plagiocephaly,338 there are indications that these children have an increased risk of auditory processing disorders. The relevance and consequences of this finding are uncertain at this moment.
As of 2006, all newborns in the Netherlands are screened for hearing problems through the neonatal hearing screening program (OAE/OAE/Algo through child and adolescent health care and Algo/Algo on NICUs). Screening is scheduled to be performed in the first 2 weeks of life, on NICUs sometimes, a bit later. The screening can reveal both conductive and perceptive losses. After an abnormal screening result for 1 or both ears, the children will be referred to a dedicated regional audiological center. In the audiological center, the child will be further tested until the nature of the loss and the therapeutic possibilities are clear. The goal is to start with an appropriate intervention (hearing aids) before the age of 6 months.
Any congenital losses (perceptive and conductive) are most likely identified in the neonatal hearing screening. One should be alert to problems that may occur later in life, especially OME. Persistent conductive losses after treatment of OME require attention, especially monitoring by imaging. An early CT scan of the petrous part of the temporal bone is useful to predict hearing problems and to decide whether treatment should consist of a hearing aid or a tympanostomy tube.
In the first 4 years of life an annual hearing test is indicated, with tympanometry and otoacoustic emissions, and, if possible, a pure-tone audiogram (from the age of 4 years, or somewhat earlier depending on the level of development and the capacity to follow instructions). After an unclear result, ABR and/or free field testing are performed, which can take place at the local audiological center.
The first skull-CT should include adequate sections of the petrous parts of the temporal bone, so that any structural abnormalities in the outer/middle and inner ear are identified at an early stage and appropriate therapy can be chosen without delay.
The therapy depends on the type of hearing loss (conform otolaryngology guidelines) and may consist of tympanostomy tubes, hearing aids (conventional, BAHA), or cochlear implant. Treatment is performed by the audiologist, either local or at the center. Reconstructive surgery for congenital middle ear abnormalities can take place at a later age.
Speech/language monitoring commences at the age of 2 years with standard speech and language assessment tests.
14. DENTOFACIAL DEFORMITIES
1. What is the prevalence and nature of dentofacial deformities in syndromic craniosynostosis?
2. What orthodontic care is indicated in syndromic craniosynostosis?
Basic Question 1: What Is the Prevalence and Nature of Dentofacial Deformities in Syndromic Craniosynostosis?
The literature does not contain reports on the prevalence of dentofacial deformities in syndromic craniosynostosis. Below, we address only publications describing the nature of the deformities:
Dentofacial deformities occur in almost all syndromic types of craniosynostosis. It is not clear if patients with the syndrome of Saethre-Chotzen and patients with the syndrome of Muenke are affected as severely. Only one article on dental deformities is available, describing 8 patients with the syndrome by Muenke.146 Dentofacial deformities are aggravated by the necessary surgical corrections. Twenty-one articles report on dentofacial growth and development in syndromic craniosynostosis.
The orthodontic and dental problems in syndromic craniosynostosis are related to abnormal growth of the maxilla both in vertical, transversal, and sagittal direction, on account of which the maxilla is too hypoplastic in all dimensions.155,339–341 Normal maxillary growth takes place by growth of the sutures around the maxillary sutures, including the median suture.342,343 This leads to forward and downward displacement of the maxilla (primary displacement). In addition, growth of the skull base proceeding from the synchondroses leads to forward and downward displacement of the maxilla (secondary displacement). Moreover, apposition and resorption processes take place at the bone surface of the maxilla.344 In normal development, growth at the level of the base of the orbits is largest until the age of 8 years.345
The underlying mechanisms are probably twofold, that is synostosis of the palatinal suture and the sutures around the maxilla, as well as retarded growth from the cranial base. Reduced outgrowth of the maxilla and the associated restriction of the upper respiratory tract lead to mouth breathing and consequently to excessive open bites.346–348 The maxillary transversal hypoplasia in addition leads to a unilateral or bilateral cross bite.347,348
The maxillary hypoplasia results in an anomalous sagittal relation between the upper and lower jaws. Furthermore, it nearly always leads to severely delayed eruption of the dentition, retention, and considerable ‘crowding’ in the upper dental arch.347–349 The delayed dental development is probably the cause of abnormal eruption patterns.350 Authors describe a narrow, high-arched palate with co-occurring large lateral gingival swellings. The palatal constriction and lateral swellings will intensify with age.347–348,351 Gingival thickness probably contributes to the delayed eruption of the dentition.347,352 Ectopic eruption of the first permanent molars occurs more frequently than in the normal population, that is, in 50% of patients with the Apert syndrome and in 40% of patients with the Crouzon syndrome.353
Hypodontia is another frequently reported condition.348,349 Shape and size of the teeth may be abnormal,347,349 but this was not found in the study by Letra.348 Good oral hygiene may be problematic in these patients, not only because of insufficient space, but also, for example, on account of the syndactyly in patients with the syndrome of Apert.354,355 In addition, many patients breathe through the mouth, so that inflammation of the gum tissue will be resolved less easily.356,357
Compensatory changes in the lower dental arch are seen that are related to the disturbed maxillary growth.358
One article makes clear that in view of the large number of dental deformities orthodontic care is quite essential in patients with syndromic craniosynostosis.349 Dental development is delayed by at least 1 year, and this delay, next to other local factors, is responsible for delayed eruption of the dentition.350 A number of dentofacial characteristics, such as crowding, malocclusion, and gingival swellings worsen during growth, but orthodontic treatment may reduce their severity and provide for better oral hygiene and fewer parodontal problems.348
Basic Question 2: What Orthodontic Care Is Indicated in Syndromic Craniosynostosis?
In view of the many dentofacial deformities (see above under question 1), extensive orthodontic care and guiding, including space management and eruption guidance, should start at a young age.
The general standard for current-day orthognathic treatment is both pre- and postoperative orthodontic treatment.359 The orthodontic-surgical intervention must be planned carefully, also on account of the skeletal malalignment of the jaws.359,360 It is not clear whether distraction osteogenesis to resolve airway problems, exophthalmia, or other objective problems could lead to further midface growth inhibition. The degree of mandibular growth is not clear.154 As long as the face has not fully grown, it is not possible to reach the ultimate goal on occlusion level.155,157,197 Insufficient information is available on the stability of the Le Fort III distraction osteogenesis (see facial deformities).181 Orthognathic surgery after reaching the skeletal age of 18 years is usually indicated to obtain normal alignment of the jaws and occlusion.
The following factors should be taken into account when planning treatment: patient's emotional age, mental age, and the related degree of cooperation.344 There is no research available on the retention phase after orthodontic treatment in syndromic craniosynostosis patients. It is not likely that this would be different from that in patients without syndromic craniosynostosis. From a study, in nonsyndromic craniosynostosis patients it appeared that retention is necessary after orthodontic treatment.361
Syndromic craniosynostosis is classified among the ‘rare diseases’ and from the above analysis of the available literature it appears that there is hardly any or no evidence at all. It is of great importance, therefore, that treatment centers both nationally and internationally apply a standard documentation schedule. This would allow for data pooling and gaining more knowledge on the clinical course of the syndromic craniosynostosis over time as well as the effects of interventions.
Especially for this group of patients it is more difficult to obtain an adequate level of oral hygiene with orthodontic treatment. This is in part because of developmental and behavioral problems (see Chapter 18) but also to physical problems such as hand deformities (see Chapter 15).
Regarding the deciduous teeth, the focus is on space management and eruption guidance. At this stage, surgery on orbital and dentofacial level is to be avoided, if possible, in view of further growth of the orbits and the location of the odontoblasts. Three-dimensional x-ray examination should be performed as soon as combined orthodontic-surgical treatment is scheduled (surgical aspects are dealt with in detail in Chapter 7).
During the first and second dentition transition phases various treatment strategies are feasible, such as dental or skeletal maxillary widening, eruption guidance and series extraction, or a combination of both. Any permanent teeth extractions should be done with future surgery in mind. Delayed dental development and abnormal eruption patterns are reasons to continue with regular orthodontic check-ups. Functional problems may necessitate coordinated orthodontic treatment and surgical intervention as integral parts of the comprehensive management of syndromic craniosynostosis. If hypertelorism is present necessitating facial bipartition, orthodontic space between the central incisives must be provided.
Combined orthognathic treatment in sagittal direction is less obvious in patients aged between 12 and 18 years. The skeleton has not yet fully grown and puberty is starting.
Still, transversal corrections can take place in this period in preparation to the definitive sagittal corrections. In view of the three-dimensional complexity it would seem obvious to first perform the transversal and next the sagittal correction. Because in syndromic craniosynostosis patients the maxillary suture closes earlier, transversal distraction osteogenesis will mostly be indicated at this stage. The expansion device may be either tooth borne or bone borne.
The definitive sagittal correction is performed as soon as sufficient coordination of the dental arches has been reached at the age from 18 to 20 years.
Orthodontic-surgical management requires careful three-dimensional cephalometric planning in consultation with the surgeon. Presurgical orthodontic treatment is aimed at alignment of the dental arches and preparing for surgery. A rigid or semirigid dental anchoring construction is needed if surgery is performed in combination with distraction osteogenesis. In internal distraction osteogenesis, traction both at dental and skeletal level is needed to guarantee maximum stability, security, and optimal vector control during the active phase (± 1 month) and retention phase (± 3 months) of the distraction osteogenesis. Bone anchoring is a must, traction at dental level only is advised against in all cases. During the internal distraction osteogenesis, (extra) internal traction can be used such as a face mask. In all patients, postoperative stabilization should be achieved using intermaxillary elastic bands and/or a face mask. Orthognathic surgery is needed (also on account of the characteristic open bite) to achieve the optimal end result, that is, normal alignment of the jaws and occlusion. On the other hand, psychosocial problems and (low) level of cognitive functioning may dictate compensating orthodontic management only.
Provided the oral hygiene allows for this, permanent retention is achieved by means of retention wires and in addition a retention device that stabilizes the dental arches in relation to each other. Regular monitoring is essential and evaluation should take place at least 2 years after treatment.
There is no solid evidence that orthodontic management and counseling of patients with syndromic craniosynostosis should be teamwork. Still, in view of the complex multidisciplinary nature of the problems this would seem obvious; the necessity of teamwork has been accepted worldwide for conditions such as cleft, to name one. From the perspectives of the patient and parents/care takers, however, the burden will be heavy as usually multiple stages of active orthodontic therapy are indicated, and treatment consequently will continue over several years. A patient and parents/care takers will have to visit the treatment center at least 10 times a year. Thus, a balance must be found between a limited number of centers for the orthodontic management of craniofacial deformities and good geographical distribution nationwide.
Oral hygiene must be monitored more intensively in comparison with the normal population.
Regular orthodontic monitoring is necessary in view of delayed dental development and abnormal eruption patterns (1 to 4 times a year).
In case of surgical intervention, coordinated orthodontic-surgical treatment is an integral part of the comprehensive management of syndromic craniosynostosis (surgical aspects are dealt with in detail in Chapter 7).
Immediately after surgery/distraction osteogenesis, orthodontic retention is indicated to stabilize the result and prevent relapse.
Provided the oral hygiene allows for this, permanent retention is achieved by means of retention wires and in addition a retention device that stabilizes the dental arches in relation to each other.
To ensure stability of the combined orthodontic-surgical interventions, orthodontic and facial orthopedic monitoring of the development into adulthood is indicated by means of standard protocol. Evaluation at least 2 years after treatment is required.
Instruction: Orthodontic Management. Monitoring in a Multidisciplinary Setting
To ensure stability of the combined orthodontic-surgical interventions, orthodontic and facial orthopedic monitoring of the development into adulthood is indicated, to be scheduled in relation to the characteristic developmental stages of the head and dentition. It is recommended to follow the schedule below (this is the recommended minimum set of records).
15. DEFORMITIES OF THE EXTREMITIES
1. What are the nature and prevalence of the deformities of the upper and lower extremities for the different types of syndromic craniosynostosis?
2. What kind of screening is required to diagnose these deformities and how to proceed?
As part of the phenotype of the craniosynostosis syndromes, deformities of the extremities are frequently seen, varying from very mild with hardly any functional consequences to very complex with very severe functional limitations. Deformities of the extremities that co-occur with a functional limitation need treatment, for which both timing and method are of relevance.
Summary of the Literature
Deformities of the hands and feet and, in less severe conditions, of the elbows, shoulders, knees, and hips, are reported for the syndromic types of craniosynostosis.
Deformities of the extremities are described for the following syndromes:
Complex (bony) syndactyly is practically symmetrically present in both hands, with involvement of at least the index finger, middle finger, and ring finger. Finger movement is only possible at the metacarpophalangeal (MCP) level and sometimes at the level of the proximal interphalangeal (PIP) joint in the little finger.362 All other IP joints are either present or stiff. Stiffness is a constant symptom, even after the fused middle 3 fingers are separated at an early stage.363
Upton and Cohen both describe a classification system for severity of the syndactyly. The classification system of Upton is the one most commonly used:
Type 1) Complex syndactyly of the digits 2, 3, 4, while digits 1 and 5 are separated. There is a simple syndactyly of the digits 4 and 5. The thumb is short, broad, and deviates radially (in 45% of the Apert hands).
Type 2) Complex syndactyly of the digits 2, 3, 4 with simple syndactyly of digits 1 and 5. Synonychia of digits 2, 3, 4 and 5 is seen, although digit 5 may have its own nail. There is slight webbing of the soft tissue of the first web space. The thumb is short, broad, and deviates radially (in 39% of the Apert hands).
Type 3) Complex syndactyly of all fingers. All fingernails show synonychia, which often gives rise to ingrowth of nails and, consequently, to nail bed infections. Preaxial and postaxial polydactyly may occur. The thumb is often poorly developed (in 16% of the Apert hands).
Radiography: The thumb always has 2 phalanges: a better developed distal phalanx and a proximal deltaphalanx. This does not apply to type 3 hands. Over time, fusion of the proximal and distal phalanges of the thumb can be seen. The MCP joints are always visible as such. Depending on the hand type there can be fusion between the end phalanges of the digits 2 and 3; 2, 3, and 4; or between all. Sometimes there is fusion between the basis metacarpal (MC) 4 and MC 5 (never in type 1, 77% in the remaining types). Carpal fusion between the capitate bone and hamate bone may occur.
Additional anatomic deformities of the hands consist of a deviating vein pattern and nerve pattern, especially distal on the MC level, deformities of the flexor retinaculum, flexor tendons, extensor tendons, and intrinsic hand muscles. All these anatomic variations have implications for the surgical treatment.
In the majority of the 10 Apert patients who were evaluated, the elbow functions were normal and less than half had radiologic deformities. Limited elbow functionality had a strong positive correlation with the severity of the hand and foot deformities. Progression toward synostosis will occur in patients with no elbow movement at birth. A proximal underarm synostosis between the radius and ulna was not reported.
Upton evaluated 19 Apert patients and found a prominent acromion, a broad major tuberositas, a small glenoid fossa of scapula, an indistinctly defined anatomic neck of the humerus, and an ovoidal shape of the humerus head. The glenoid dysplasia is most consistent. The range of motion in abduction, anteflexion and external rotation is limited and is further limited by growth. Murnaghan reports limited movement of the shoulder in the majority of Apert patients as well, especially by flexion and abduction. These are notably caused by the inclination of the inferior glenoid and rather not by soft tissue abnormalities or degenerative deformities.
The hands are always more severely affected than the feet. Children with Apert walk at a relatively late age (10–34 months). It is not reported why they are walking at a late age. The big toe may be bifid.
The classification of the foot deformities parallels that of the hand;
Type 1) Digits 2, 3, and 4 are fused. The big toe is short, shortens progressively, and often deviates medially.
Type 2) Digits 2, 3, 4, and 5 are fused.
Type 3) All toes are fused (in most patients).
Progressive fusion of the tarsus and metatarsus is seen making the movement of foot and ankle increasingly difficult over time. The first digit shortens with medial deviation from the big toe, secondary to growth deformities and a delta phalanx. In the toes with 2 phalanges, fusion occurs while retaining minimal movement in the metatarsophalangeal (MTP) joints. The midfoot and hindfoot characteristically fuse in a supination position. The fifth metatarsal is prominent with callus formation under the small head of the fifth and third metatarsal bones.
Knees and Hips
Upton finds no functional deformities of the knee and hip in 19 patients.
The aim of treatment is to create a deep, first web, to treat and prevent nail bed infections, to correct the position and length of the thumb and to divide the fingers to improve the pincer grip.
Upton advises early treatment of macerations and nail bed infections, approximately at the age of 1 to 6 months. Experience has shown that this is an important problem for very young Apert patients, but specific numbers cannot be found in the literature.
Literature is conclusive about the necessity for an early initial web release in type 3 hands. Fereshetian performs web release in between 3 and 6 months in type 3 hands, Zucker and Fearon at 6 months, and Guero in between 6 and 9 months. Guero advocates a bilateral correction as well.
In general, it is advised to separate the remaining fingers between the ages of 6 and 18 months.
Corrective osteotomy of the thumbs is recommended at the age of 2 to 2.5 years by Chang, at 4 to 6 years by Fereshetian, at 6 to 9 years by Fearon, and at 4 to 6 years by Upton.
Corrective osteotomy of the fingers is recommended at between ages 4 and 7 years, 6 and 9 years, and from 7 years.
In Mathes's textbook entitled Plastic Surgery, Upton provides a general overview of the treatment and timing of Apert hands ():
Regarding the outcome of the hand functions at a later age, Upton reports that in general the first web is shallow, the fingers short and stiff, but that the strength of the pincer grip is almost normal. Strength of the grip function is 30% of the normal value as a result of the lack of IP movement of the second, third, and fourth finger and distal IP movement of the fifth finger. For type 3 hands the release of the MC synostosis provides the most important functional improvement by enabling the thumb-pink pincer grip.
Literature about the treatment of feet deformities in Apert syndrome is considerably rarer than that about hand deformities. Fearon sometimes recommends corrective osteotomy to the head of MC 2 when this is prominent at the plantar side of the foot. The aim is to have a smooth underside. Usually specially adapted footwear is sufficient for adequate function, without surgical treatment. In case of problems, a combination of specially adapted footwear and surgical correction of prominent MC heads and/or excessive callus formation is indicated to obtain maximum functionality.
Anderson describes the radiologic hand deformities of 15 patients with Saethre-Chotzen syndrome (solely based on the phenotype). All patients in prepuberty showed delayed skeletal development. Most frequent finding (7/15) was an enlarged epiphysis of the distal phalanx of the thumb, followed by flattening of the distal epiphysis of the radius (4 patients), pseudoepiphyses in the metacarpals (3 patients), and individuals with camptodactyly, clinodactyly, hypoplasia of the middle phalanx, long metacarpals, and Kirner's deformity of the distal phalanx of the little finger.
In an overview of hand deformities in craniofacial syndromes, Panthaki reports brachysyndactyly with cutaneous syndactyly of the second and third finger and clinodactyly as characteristic of Saethre-Chotzen syndrome.
Two studies are most reliable, because they only describe patients with a genetically confirmed TWIST1 mutation or deletion.
Trusen reports deformities found in a population with genetically proven Saethre-Chotzen syndrome. A double distal phalanx of the big toe was found in 12/35 patients and a triangle epiphysis of the distal phalanx of the big toe in 10/35 patients. These 2 deformities turn out to be pathognomonic for Saethre-Chotzen. Furthermore, additional hand and foot deformities were described in respectively 28 and 27 patients ().
Kress found soft tissue syndactyly of the second and third fingers in 52 of the 71 Saethre-Chotzen patients (with proven TWIST1 deletion of mutation) and bifid hallux in 44.
In 1997, Muenke described a large series of patients with the FGFR3 P250R mutation and their phenotype. Patients with this mutation are later diagnosed as having Muenke syndrome. The hand deformities described in this study consist of brachydactyly (13/44), clinodactyly (14/33), coned epiphyses (6/8), carpal fusion (2/16), thimble-like midphalanx (12/20), and an absent or fused midphalanx of the pink (2/19). The foot deformities are a broad hallux (6/23), brachydactyly (11/42), coned epiphyses (6/7), calcaneocuboid fusion (6/17), and a short and broad midphalanx (2/16).
Kress compares 71 Saethre-Chotzen patients (proven TWIST1 mutation or deletion) with 42 Muenke patients (proven P250R FGR3 mutation). Cutaneous syndactyly of the second and third finger or a bifid hallux was seen in none of the Muenke patients.
Trusen described hand and feet deformities of patients with Muenke and Saethre-Chotzen syndrome. Calcaneocuboid fusion is seen only in patients with Muenke syndrome. Additional hand deformities in 8 patients with Muenke are given in .
Before the discovery of the FGFR2 mutation that causes both Crouzon and Pfeiffer syndromes, the distinction between these 2 clinical diagnoses was based on the deformities of the extremities. In most patients of hand and foot deformities, the diagnosis was Pfeiffer syndrome. Because a number of identical FGFR2 mutations are reported in patients who were clinically diagnosed with either Crouzon or Pfeiffer syndrome, the distinction between these 2 syndromes seems to be of less relevance.
Cohen describes Pfeiffer syndrome, in which the deformities of the extremities consist of broad thumbs and halluces with radial or medial deformities, brachydactyly, and a varying degree of syndactyly. Progressive ankylosis of the elbows is possible.
Anderson describes mild radiologic deformities of the feet, such as deformities in shape, fusion or underdevelopment of the phalanges, metatarsalia, and tarsalia. Only 3 of the 18 patients had no deformities.
The FGFR1 P25R mutation shows characteristic hand and foot deformities with partial webbing of the fingers with broad thumbs and big toes, deviating toward medial, and characteristic syndactyly of the second web and sometimes of the third web. The patients of the reported 3 families had, however, minimal or no craniosynostosis. Some patients had ankylosis of the elbow.
Therapy: surgical corrections of the hands are necessary in only very few patients.
Patients with (still) unoperated hands frequently show paronychia. Hardly anything about this condition, however, is reported in the medical literature. These infections cause a lot of discomfort for the patient and require intensive care. Early treatment of the complex syndactyly improves this situation. Therefore, either prevention or treatment of paronychia is an additional reason to commence with early treatment of the hand deformity.
The functions of the upper and lower extremities of Apert patients need to be monitored during time with physical examinations and radiography. Treatment of the hands should commence at the earliest age possible, especially for type 3, and preferably performed simultaneously for both hands by a pediatric surgeon.
Monitoring of the lower extremities is performed by a pediatric orthopedic surgeon/pediatric rehabilitation physician/pediatric plastic surgeon.
16. COGNITIVE FUNCTIONING AND BEHAVIOR
1. What is the prevalence of cognitive and/or behavioral problems for the different types of nonsyndromic and syndromic craniosynostosis?
2. What are the possible risk factors for cognitive and/or behavioral problems in patients with craniosynostosis?
3. What kind of screening (nature and frequency) is indicated for the detection and treatment/guidance of the problems?
There is a large body of research on the cognitive functions and behavior of children with nonsyndromic craniosynostosis. The results of these studies, however, differ greatly; some researchers report hardly any cognitive and/or behavioral problems in children with nonsyndromic craniosynostosis, whereas others report very high percentages (up to 100%) of cognitive and/or behavioral problems. This discrepancy can often be explained by the methodological limitations that characterize many of these studies. A few of the most prevalent methodological limitations are
insufficient description of how patients were recruited, so that it is not clear whether the patient group is representative, or whether there may be a selection bias;
the studied groups are often small; moreover, the ages of the children vary greatly, necessitating the use of many different measurement instruments;
often measurements instruments are applied that are not standardized, validated, or normalized;
in studies on the prevalence of behavioral or learning problems, the results are often not corrected for IQ;
the established prevalence of, for example, behavioral problems or a low IQ, is not compared with that of the general population.
In this chapter, only those studies with a reasonably reliable design (level B or C) are used to answer the above-mentioned basic questions. All articles that do not have minimally level C are disregarded.
Summary of the Literature
Question 1: What Is the Prevalence of Cognitive and/or Behavioral Problems for the Different Types of Nonsyndromic Craniosynostosis?
In 2 large studies (N = 167 and N = 86) on trigonocephaly, it was shown that children with nonsyndromic trigonocephaly (trigonocephaly without other birth defects) as a group have an average IQ-score that does not differ from that of the standard group. In the study by Lajeunie, the average IQ-score of this group was 103 (N = 127, SD = 12), in the study by Van der Vlugt it was 104 (N = 60, SD = 20). These studies also showed that children with nonsyndromic trigonocephaly are not more likely to have an intellectual disability.
In a smaller study, (N = 24) Kapp-Simon found that very young children with trigonocephaly (average test age 7.3 months) had an average score (MDI-score = 94; SD = 6) on the mental scale of the Bayley Scales of Infant Development (BSID-II), but a low mean score (PDI-score = 84; SD = 11) on the motoric scale of the BSID-II. Speltz and Starr found in respectively 27 and 35 children with trigonocephaly scores comparable with those reported by Kapp-Simon on the mental scale of the BSID-II (Speltz: MDI = 95, SD = 7; Starr: MDI = 92) and on the motoric scale of the BSID-II (Speltz: MDI = 87, SD = 14; Starr: MDI = 84). The articles of Kapp-Simon, Speltz, and Starr seem to deal with the same patient group, to which patients are added. It appears to be a prospective, multicenter study. The preoperative test data of the children are reported in Kapp-Simon and Speltz. The mean age of the children was 7.3 months in the study by Kapp-Simon and 6.5 months in the study by Speltz. Starr reports both the preoperative and the postoperative test data of the children. The latter study only analyzed data of those children for whom both preoperative and postoperative test data, however, were available. And, while the response rates in the studies by Kapp-Simon and Speltz are high (respectively 83% and 89%), the response rate drops to 55% when only the data are analyzed from the children for whom both preoperative and the postoperative test data are available. The average age of the children at postoperative testing was 18.4 months.
There are, therefore, some differences in the results of the studies between, on the 1 hand, the studies by Lajeunie and Van der Vlugt and on the contrary, those from Kapp-Simon, Speltz, and Starr. Lajeunie and Van der Vlugt report that children with nonsyndromic trigonocephaly as a group have an average IQ-score and no increased risk of intellectual disability. The patient group from Kapp-Simon, Speltz, and Starr obtained as a group an average score on the mental scale of the BSID-II (MDI = 94, 95, and 92), but a lower mean or even a low mean score on the motoric scale of the BSID-II (PDI = 84, 87, and 84).
One possible explanation for these differences is that the data of the children with nonsyndromic and with syndromic trigonocephaly in the studies by Lajeunie and Van der Vlugt are represented in comparison. From these data, it appears that children with syndromic trigonocephaly have a strongly increased risk of intellectual disability (IQ < 70). The patient groups of Kapp-Simon, Speltz, and Starr consisted of both children with nonsyndromic and with syndromic trigonocephaly. Only data from the group as a whole, however, are presented. It is, therefore, possible that the lower scores they found might be on account of the lower scores of the children with syndromic trigonocephaly in particular.
The differences in outcome could also be explained by the difference in age: the children in the study by Kapp-Simon and Speltz were very young (mean 7.3 and 6.5 months, respectively); those in the studies by Lajeunie and Van der Vlugt were older (mean 1.13 year and 7 years, respectively). Moreover, the standard scores of the BSID are considered insufficient by the COTAN (Dutch Committee on Testing Practices), especially for children younger than 12 months. Also, the MDI and PDI scores on the BSID at a very young age (4 months) are poor predictors for the IQ-score at a later age (4.5 years). It is also remarkable that the control group, as reported in the article of Speltz, obtained significantly lower scores as well at the BSID-II in comparison with the standard group.
Mathijssen found that more than 90% of 220 children with frontal plagiocephaly (with and without the P250R FGFR3 mutation) had an IQ of >90. There was no significant difference in IQ between children with and without the P250R mutation. In studies from 1993 and 1998 in 17 and 35 patients with plagiocephaly, respectively, Kapp-Simon found that they as a group obtained average scores on the mental scale of the BSID-I (N = 17, MDI = 101, N = 35, MDI = 98).
The results of the multicenter study by Kapp-Simon, Speltz, and Starr, similar to the trigonocephaly group, deviate slightly from those of the above-mentioned studies. Kapp-Simon reports data of 18 patients with plagiocephaly. The mean score of these children on the mental scale of the BSID-II (MDI) was 93; that on the motoric scale 85. Speltz reports data of 28 children with plagiocephaly, the MDI was 90 and the PDI 83. In the study by Starr (response rate 55%) in 36 children, the MDI was 88 and the PDI 82.
A number of studies showed that the mean IQ of children with scaphocephaly does not deviate from that of the standard group and that children with scaphocephaly do not have an increased risk of intellectual disability.
In their most recent study, Kapp-Simon, Speltz, as well as Starr, however, report that children with scaphocephaly score significantly lower on the BSID-II than the standard group: Kapp-Simon: N = 49, MDI = 90, PDI = 85; Speltz: N = 62, MDI = 91, PDI = 84; and Starr: N = 86, MDI = 94, PDI = 84.
Summarizing, the results of most of these studies show that the children with nonsyndromic craniosynostosis as a group do not significantly deviate from the standard group with regard to intelligence and do not have an increased risk of intellectual disability. In the multicenter studies by Kapp-Simon, Speltz, and Starr children with craniosynostosis as a group, however, scored significantly lower than the standard group on both the mental and the motoric scale of the BSID-II. In the study by Kapp-Simon, the MDI scores distribution in the patient group, however, differed significantly from that of the standard group. Children with craniosynostosis had no increased risk of a score <85 on the mental scale of the BSID-II (more than 1 SD lower than the average of 100). Remarkably, none of the children in the patient group, however, had an MDI > 115. Total 48% of the studied children scored <85 on the motoric scale of the BSID-II (versus 16% in the standard group). Not a single child from the patient group also scored >115 on the motoric scale, whereas this was 16% in the standard group. Moreover, in the studies by Kapp-Simon, Speltz, and Starr, the study findings are not presented separately for children with nonsyndromic and with syndromic craniosynostosis, which may have led to lower test scores.
Kapp-Simon used the Preschool Language Scale III (PLS-III) to evaluate the expressive and receptive language skills of 100 children with isolated craniosynostosis (mean age 7.3 months). The PLS-III has 2 scale indices: the respective (PLS-AC) and the expressive language score (PLS-EC). For both scales, the norm score is 100 with a standard deviation of 15. The average score of the total patient group was 90 on the receptive and 96 on the expressive scale. And, even though both scores are within the standard range (85–115), these are significantly lower than the norm score.
The 24 children with trigonocephaly obtained an average score of 91 (SD = 13) on the receptive scale and an average score of 98 (SD = 13) on the expressive scale. For children with plagiocephaly (N = 18), the average score was 89 on the receptive scale and 97 on the expressive scale. And for the 49 children with scaphocephaly, the average score on the receptive scale was 91 and on the expressive scale was 95. A group of 9 children with lambdoid synostosis obtained an average score of 88 on the receptive and 94 on the expressive scale of the PLS-III. In the (same) study by Speltz in 125 children, the average scores on both the receptive and the expressive scale of the PLS-III of the craniosynostosis group did not significantly differ from those of the control group. But both the groups scored somewhat lower than the standard group on both scales (craniosynostosis group: PLS-III-AC = 92, PLS-III-EC = 97; control group: PLS-III-AC = 95 and PLS-III-EC = 97).
A study by Shipster in 76 children with scaphocephaly (mean age 4 years and 7 months) seems to show that these children have a significantly increased risk (37% versus ± 6% in the general population) of specific speech/language problems (= speech/language problems that are not the result of a low IQ), notably expressive language problems.
Other Cognitive Functions
Young children with nonsyndromic craniosynostosis obtained memory and response inhibition task scores that did not deviate significantly from the scores of a control group without craniosynostosis.
Children with trigonocephaly who have an IQ of 85 or higher, have no increased risk of behavioral problems. Children with trigonocephaly who have an IQ lower than 85, have a (strongly) increased risk of behavioral problems, similar to all other children (without craniosynostosis) who have an IQ of lower than 85.
Bolthauser studied the behavior of 24 children with scaphocephaly using the Child Behavior Checklist (CBCL). The average scores of the patient group (CBCL total score, CBCL internalizing score, and CBCL externalizing score: T = 52.9, T = 53.0, and T = 52.53, respectively) were within the normal range (40–60).
There are only a few studies reporting on cognitive functions and behavior in children with syndromic craniosynostosis. Only very few of these studies are on B or C level; and are even lacking for some syndromes. In the latter patients, studies may not meet the C-level criteria and therefore may not be very reliable as well.
Summary of the Literature
Question 1: What Is the Prevalence of Cognitive and/or Behavioral Problems for the Different Types of Syndromic Craniosynostosis?
Children with syndromic trigonocephaly (=trigonocephaly together with other birth defects) have a significantly increased risk of intellectual disability. In the study by Lajeunie more than 34% of the children had an IQ < 70. In the study by Van der Vlugt, this percentage is 27%. The average IQ of these children was 83 (N = 32; SD = 22) in the study by Lajeunie and 89 (N = 26; SD = 20) in the study by Van der Vlugt.
Mathijssen found that more than 90% of 220 children with frontal plagiocephaly (with and without the P250R FGFR3 mutation) had an IQ of >90. There was no significant difference in IQ between children with and without the P250R mutation.
Children with Apert syndrome seem to have a strongly increased risk of intellectual disability. Patton reported that 52% of the 29 patients in his study had an IQ lower than 70. In the study by Renier, this percentage was 50%.
The average IQ of the patient group of Lefebvre was 74, that of Renier 62.
In a study by Shipster on cognitive functions, speech and language skills of children with Apert syndrome, the cognitive functions, however, were on an average level. The cognitive functions were studied using the Core Subscales of the British Ability Scales (BAS-II). These consist of 2 verbal tests and 2 tests on nonverbal functions. These 4 subtests provide a score for the general cognitive ability (GCA) and a nonverbal composite (NVC), based on the 2 nonverbal subtests. For both scales, the norm score is 100 with a standard deviation of 15. The children with Apert syndrome obtained an average score of 94 on the verbal scale (GCA) and an average score of 96 on the nonverbal scale (NVC).
True, this study was conducted in only 10 children, but seeing that only 12 children met the eligibility criteria (all children with Apert syndrome aged 4–6 years at the Craniofacial Unit of the Great Ormond Street Hospital), the response rate was 83%. One of the 2 eligible children who did not participate in the study had been previously tested and found to have an average intelligence. The second child functioned on a low average level at school.
So far, there is no reliable study on the cognitive functions and the behavior of children with Saethre-Chotzen syndrome. The few available studies have serious methodological limitations. These studies seem to suggest that children with Saethre-Chotzen syndrome have an increased risk of cognitive problems. This risk seems to be larger in the case of a deletion than in the case of a mutation.
Even though the studies by Kress, Muenke, and Flapper on Muenke syndrome have serious methodological limitations, their studies suggest that patients with the FGFR3 P250R mutation (=Muenke syndrome) possibly have an increased risk of intellectual disability.
Mathijssen, however, reported an average IQ in children with a mild form of Muenke syndrome and concluded that these children's IQ does not differ significantly from that of children with frontal plagiocephaly without FGFR3 P250R mutation.
Even though the study by Flapper (2009) has serious methodological limitations, this study seems to suggest that children with Crouzon syndrome and Pfeiffer syndrome have an increased risk of intellectual disability.
Since different types of syndromic craniosynostosis (eg, Apert syndrome, Muenke syndrome) are associated with hearing loss, clinicians should remain alert about the speech/language development in children with these syndromes.
In the study by Shipster on the cognitive functions, speech and language development of children with Apert syndrome, 8 of the 10 tested children had language difficulties. All 8 children had expressive language problems and 4 of them had problems with receptive language skills as well, despite the fact that the intellectual capacities of the group was of average level.
Intellectual disability often coincides with behavioral problems. And since children with syndromic craniosynostosis seem to have an increased risk of intellectual disability, the likelihood of behavioral problems also appears to be higher for this group. Children with intellectual disability have a 50% to 60% chance to develop behavioral problems.
In summary, children with syndromic craniosynostosis seem to have an increased risk of cognitive and/or behavioral problems. There, however, are large differences in outcome between the different syndromes. And even within a syndrome, outcomes may range widely; for example, Renier reports a 10 to 114 range in IQ score.
Basic Question 2: What Are the Possible Risk Factors for Cognitive and/or Behavioral Problems in Patients With Craniosynostosis?
In different studies, researchers have tried to uncover factors that could correlate with the (worse) cognitive functions of children with craniosynostosis. Factors studied are the following:
whether or not to perform surgery;
severity of the malformation;
age at time of surgery;
presence or absence of brain abnormalities;
So far, no significant relationship has been found between on the one hand the above-mentioned factors and on the contrary, cognitive functions of children with nonsyndromic craniosynostosis.
Basic Question 3: What Kind of Screening (Nature and Frequency) Is Indicated for the Detection and Treatment/Guidance of These Problems?
There are indications that children with (syndromic) craniosynostosis have an increased risk of behavioral problems. By mapping these problems at an early stage, child and parents can be timely referred to appropriate intervention (eg, speech-language therapy, physiotherapy, parent counseling, or parent management training) and adequate education for the child can be found.
Based on clinical experience, it appears useful to start psychodiagnostic testing of children who have an increased risk of cognitive and/or behavioral problems at the age of 2 years, testing for example, personal development, speech and language development, and behavior. The psychodiagnostic test should be preceded by testing for any auditory disorders.
It is important, too, to provide for testing of cognitive functions and behavior when it is time to choose the best type of elementary school. Screening for learning disabilities could take place later, between ages 7 and 9 years.
Standard psychologic testing of all children with craniosynostosis (nonsyndromic and syndromic) places a large burden on the team, while it is often not necessary. It is advisable to apply testing as sensibly as possible. Routine screening on developmental and behavioral problems is indicated to identify patients who may develop problems during time. This screening should take place at least at a young age, approximately, the time of entering primary school, and between ages 7 and 9 years to discover any learning disabilities. The team will have to make arrangements on who will perform this screening, and when indicated, fast referral to the psychologist is necessary.
Auditory processing disorders are regularly seen in children with syndromic craniosynostosis (see the chapter on hearing impairments), increasing the chance of speech/language problems for these children.
Children with scaphocephaly and Apert syndrome need to be tested for speech and language problems from the age of 2 years approximately.
Children with syndromic craniosynostosis need to be screened on a regular basis for cognitive and behavioral problems and, after referral, to be evaluated psychologically. These children are to be screened at least when they are 2 to 3 years old, at the moment of (primary) school choice, and between ages 7 and 9 years for any learning disabilities.
Psychologic testing on children with craniosynostosis is preferably conducted in the hospital where the child is under treatment for his or her craniosynostosis. If these tests are conducted elsewhere, it is important that the results of these tests are reported to the psychologist in the craniofacial team.
17. PATIENTS’ AND PARENTS’ PERSPECTIVES
Opinions of patients and of the parents of patients are important when it comes to creating guidelines. We (advisor of Department of Professional Quality of the Dutch Order of Medical Specialists, social worker, and nurse specialist) felt the need to enter into dialogue with parents and patients in a focus group addressing their experiences with the care and counseling of the child with craniosynostosis. Furthermore, we wished to make an inventory of the wishes and expectations about this counseling.
Via patient association LAPOSA, parents of children with craniosynostosis as well as older patients themselves were invited to participate in the focus group. Our aim was to provide for as much diversity as possible, that is, different treatment location; both nonsyndromic and syndromic craniosynostosis, different treatment techniques, and variety in ages. In the end, we held 2 evening sessions. In the first session, 9 parents of young children (1–6 years) attended. The second session was with parents of school-going children (6–18 years), and older patients (15+), and partners. The number of participants was 8 and we interviewed 2 externally.
The focus group discussions were mediated by Teus van Barneveld, advisor in the Department of Professional Quality of the Dutch Order of Medical Specialists and involved in the development of the guideline. Both social worker Francien Meertens and nurse practitioner Hansje Bredero-Boelhouwer attended as well.
The topics addressed were the topics dealt with in the guideline:
Intake/diagnosis; treatment; aftercare.
A summary of these sessions is presented below:
Even before intake, there was often considerable uncertainty about the condition, resulting in:
* many referrals (general practitioner >> pediatrician >> specialized center);
* late referrals;
* unnecessary or inaccurate or incorrect diagnostics;
* receiving incomplete or incorrect information.
All this is a source of great agitation/stress for the parents. It forces them to solve everything on their own.
* Education to child health clinics, obstetricians, general practitioners, and pediatricians.
* Short interval between suspicion of craniosynostosis to first contact.
* Clear information (written/internet) alongside the opportunity to ask questions and guidance when processing the information.
* Easy access to a member of the team. This contact must be able to handle coordination issues but also medical/psychosocially emotional issues.
Diagnosis and Treatment
Different treatment methods are available, but the how, what, and why of each method are unclear for the parents. This brings uncertainty and makes it difficult to make a well-balanced choice. Some parents indicated that the period between first contact and intervention was very long. They started to worry increasingly about the health of their child. Furthermore, the effect that the diagnosis can have on the family and the future raises concern. Even after the first treatment of children with syndromic craniosynostosis, the parents are still worried. Then, many questions arise, for example, on the child's development, auditory perceptions, and visual acuity. Parents notice that quite some things tend to go wrong or almost wrong, because of insufficient knowledge of other disciplines (eg, technicians). And, in general, they were not satisfied with the postoperative pain management as well.
* Being able to choose the treatment. This means that they want to hear objectively from their treating physician which possible treatments are available, with all advantages and disadvantages.
* Once again, easy access to a member of the team. This contact should have an overview of all medical/psychosocial aspects. In addition, he or she should be able and allowed to independently undertake steps outlined in the treatment plan. To be able to coordinate multidisciplinary care is seen as important.
* Clear information from the physicians involved (which includes being able to talk to everybody), a personal approach.
* The need for social work. This is more important for parents with children with syndromic craniosynostosis. The team has to become actively involved here.
* Contact with a clinical geneticist should be offered whenever relevant.
* Contact with peers. This may be via the Internet (eg, Hyves, Facebook, blogs) or via patient associations.
* Educating disciplines involved in the treatment.
* Good postoperative pain management.
In this period, patients and parents are still confronted with the consequences of the condition. Questions and/or problems arise especially about choosing a school, dealing with practical issues, accepting the abnormal appearance, resilience, and the physical/mental limitations. It is not always easy to smooth the contact between the care and educational sectors.
In the case of invasive procedures, active preparation and counseling by the team both in the home or home substituting situation and at school are highly appreciated.
When a child is being managed in multiple healthcare facilities, it is not easy to keep track. Sometimes, the parents and patient are even confused who should be doing what and when.
Regarding insurance: this usually gives the necessary problems. The Dutch Exceptional Medical Expenses Act (AWBZ) always is a source of problems. The basic health insurance package usually presents no problems. There appear to be many differences between the various health insurance packages.
The transition from child to adult care is a complex topic (eg, Who is the contact, which care can be left to the child itself?). The transfer to the adult hospital is certainly experienced as very suddenly.
In general, parents indicated that they managed to find their way in handling the situation. Support from the team in dealing with this process, however, can be valuable.
* Also in the aftercare period, there is a need for a contact person to whom questions can be addressed, even if these do not seem to be directly related to craniosynostosis.
* Proactive involvement of the psychosocial team during the periods of treatment and the transition periods of the different developmental stages of the child.
* Guidance in choosing a school with behavioral/mental issues. Guidance may also be provided in a peripheral setting, but the team should give active attention to this issue.
* Communication between peripheral treatment providers and the team.
* Easy access to social work.
* Contact with a clinical geneticist when planning a new pregnancy.
* Preparation and guidance for the transition process.
18. PSYCHOSOCIAL FUNCTIONING
1. What psychologic problems are the child, parents, and family faced with in the following phases:
period of diagnosis up until the first treatment;
follow-up treatment/follow-up, coinciding with the school-going age;
aftercare, the period during adolescence and inventory of the last treatment.
2. What psychosocial care, for parents and patient, is indicated at what moment?
The questions mentioned above spring from the fact that not only the condition itself but also the medical treatment of craniofacial disorders influences psychosocial aspects. It can influence not only the child itself, but also his or her parents, brothers/sisters, (extended) family, friends, school, job of the parents. A whole system is involved in the treatment of a child with a craniofacial deformity. From a psychosocial perspective, it concerns the psychic (intrapsychic), relational (interpsychic), and social aspects of his or her life.
Craniofacial care clearly differs for patients with syndromic craniosynostosis and those with nonsyndromic craniosynostosis. In general, it appears that for syndromic craniosynostosis treatment lasts much longer, includes more surgical procedures and has a more sustaining influence on the life of the patient, possibly causing more psychosocial problems.
Summary of the Literature
Parents of children with a syndromic malady are confronted with long-term care paths, many different social workers and health professionals from different organizations. Many already receive support from different agencies (eg, MEE Foundation, Child protection, and Mental Health Care). Not all parents appreciate to receive support from the team. It is important to make an inventory of the psychosocial situation of the family on a regular basis. In particular, the periods of interventions or transitions are important.
During the entire route, it is important to make it easy to contact a member of the team. Apart from medical knowledge about the diagnosis, this person should also have an overall (both medical and psychosocial) insight (holistic approach).
Period Up to and Including the First Treatment
During this period, psychosocial care of the parents will be central, because this period usually coincides with the baby and infant stage.
The following bottlenecks for the parents, or rather the family, can be identified: long-term uncertainty about the diagnosis, anxiety about a new pregnancy, uncertainty about the expected development, difficulty in choosing a school, coping of the patient and parents with the condition and the abnormal appearance, education, and having to deal with contrasting explanations in the hospital.
Diagnostics and Treatment
Parents indicate that there is a lack of knowledge at child health clinics and among general practitioners. Moreover, in the peripheral hospitals, they do not know what tests to perform and in what order. This results in a repetition of tests, very often leading to uncertainty and more stress for the parents.
In different studies and international guidelines, it is shown that during this first period a number of issues are important.
* Education/information about recommended treatments, options, risk factors, advantages, and costs to support them in
making a well-balanced decision in the interest of the child (all advantages and disadvantages, locations, timing, procedures, experience, etc.).
preparing the child and themselves for all recommended procedures.
* To be alert to psychosocial problems/medical history in syndromic conditions, a focus/psychoeducation on emotional processes in parents/other family members during different phases of life.
Information must be easily understandable, tailored to the cognitive level, the social/emotional, and the medical situation. There is also a need for written information or web-based information.
Brooke indicates that social support to the parents is an important protecting factor.
Processing, Acceptance, Parenthood, and Relationship
Supporting the parents to help them build self-confidence and to come to accept their situation, is considered to be one of the main tasks of the craniofacial team. In this case, the amount of time the team dedicates to the parents influences their perceived amount of support, and relatedly, the amount of stress. Both from clinical experience and the literature, it is clear that a too heavy burden increases parental stress. Even though the studies are small, similar results are found in multiple studies.
Clinical impression shows that parents with a child with a very visible deformity may be more inhibited in accepting this condition. Research by Sarimsky confirms this for children with Apert syndrome.
Syndromic conditions are an additional stress factor to the relationship of the parents. In 60% of the divorced parents, the relationship between the parents, however, was already in jeopardy before the birth of the child. If the relationship is good, this stress factor is less prominent. Within the framework of “Early Intervention,” it is sensible to pay attention to this as well.
Follow-Up Treatment(s) and Follow-Up
Behavioral issues arise often if the child is already a bit older (this chapter deals with toddler, kindergarten, and high school age). Some behavioral issues are the result of a lower IQ (see chapter 16), some arise from the embarrassment of the parent to become involved in the upbringing, for example, as a result of the craniosynostosis (clinical experience), and some are because of reasons that are currently unclear.
During this period, psychosocial care initially is still strongly focused on the parents and the child is often counseled through the parents. As the child grows older, the focus will be more on the individual child.
At the time when the parents have to choose a school for the child, they may have questions about his or her cognitive functions. In particular, this is to be expected for children with syndromic craniosynostosis. There is no literature available about school choice. From clinical experience, we know that, if the parents have a problem, they will be looking for agencies that can support them and they regularly find answers on their own initiative. In the focus group, the parents mentioned that they appreciate backup support from the team.
If children are becoming more aware of their abnormal appearance, the parents will also question how they can support their child in this regard, for example, when it is bullied or when it is extremely shy. Literature describes that in this period, emotional and pedagogical support of the parents is of importance, because the amount of parental resilience influences the resilience of their child.
Clinically, it is seen that a number of parents, because of the craniosynostosis (irrespective if it is syndromic or not) find it difficult to exert their educational tasks in such a way that they feel they have a grip on the child's behavior. For various reasons related to the craniosynostosis, this may result in a mismatch between the required and provided upbringing. Information to the parents and screening for problems with the child's behavior possibly followed by treatment from the craniofacial team are reported as important interventions to prevent problems.
Based on clinical experience, the following issues deserve attention.
For children and adolescents, a hospital admission, a medical test, or surgery can sometimes become a traumatic experience, causing posttraumatic stress syndrome (PTSS) symptoms (eg, problems with sleeping, separation anxiety, extreme fear for physicians, hospitals, etc.). Naturally, it is important to prevent this. Here, as well clinical experience shows that professional preparation of the child as well as the parents by a pedagogical worker is valuable and can prevent PTTS symptoms. Children with PTSS symptoms can receive treatment from a psychologist. There is no literature on this topic with reference to children with craniosynostosis.
Some medical treatments (such as wearing an external frame or other types of distractor devices) require a strong motivation and a high perseverance of the child and his or her family. It is important as well that the child is able to sustain such treatment. For families for whom the burden exceeds their coping ability, treatment success is an important risk factor. De Sousa and Lefebvre indicate that the timing of the treatment is important and that it preferably should take place when the family shows sufficient coping ability. In addition, Lefebvre indicates that expectations about the treatment should be realistic. Good information and an estimation of the child's coping ability but also that of the family are essential. The medical social workers should be able, if desirable, to adapt their language use to the level of the child.
Adolescence, Aftercare, Adulthood
Adolescence is the period when a child separates himself or herself from his or her parents.
The craniofacial team often encounters the following issues:
Appearance + Own Meaningfulness
Over one third of these adolescents experience stigmatization because of the abnormal appearance. Many adolescents are able to deal with this in a robust manner. It, however, is important to ensure psychologic support when problems arise. Counseling is aimed at the psychosocial adaptation and the self-understanding, social skills, and the self-image of these adolescents. Information itself is not enough especially for these “experienced” adolescents; it is important that they learn more about the procedures. In this manner, they are involved in the decision-making, which in turn has a positive influence on their cooperation, satisfaction, and self-management.
Young persons are, according to the Dutch Medical Treatment Act, fully responsible for the decisions about their treatment from the age of 16. For those with a syndromic condition, for whom the parents have been making decisions for a long time, this can be a complicated transition. It may be desirable to offer support to the parents and/or adolescent in finding a new balance. In that case, it would seem important to develop the adolescent's autonomy and to find a way for the parents to continue with their parental duties. Finally, there should be continuity in the transition of care toward the adult care system. This whole process will be influenced if there is a developmental delay.
Posttraumatic Stress Disorder (PTSD)
Posttraumatic stress disorder occurs as a result of experiencing a traumatic event. A traumatic event is understood to be an event characterized by the violation of the physical integrity and/or threat of death. From a young age, children with craniosynostosis experience stressful events and events that can cause their physical integrity to be violated; they are often handled by more than 1 adult at the same time to receive intravenous therapy against their will or to be x-rayed. Also pain, being away from their familiar environment, and separation from the parents are stress-increasing factors for the child.
The parents of these children may experience many stressful events as well. Parents often have to look on helplessly while their child suffers and can often do very little to help the child. For parents, the cranial surgery on their young child and the subsequent hospital admission is usually also a traumatic event. As a result of these stressful events, both parents and the child can develop acute stress responses. For most parents and children, these responses disappear during time, but they will be sustained in some parents and children, so that the events are not properly processed. This will cause PTSD.
A study by Bronner shows that 1 of every 10 children and parents develop PTSD after admission of the child to the intensive care unit. Stress responses of the parents (especially of the mother) are important indicators for PTSD in the child. The most important indicator of PTSD in the parents is their psychiatric vulnerability and the way parents deal with the admission to the intensive care unit. It is estimated that PTSD is present in approximately 8% of the general population. Posttraumatic stress disorder symptoms co-occur with symptoms of stress, and can manifest both as physical and mental problems. Posttraumatic stress disorder left untreated has a severe negative impact on the development and the psychosocial functions. Prevention of PTSD as well as early recognition and treatment of PTSD can improve the patient's quality of life.
There is some reluctance in the regular health care system to initiate treatment and counseling routes because sufficient knowledge of the condition in question is not always present. For patients and their systems, recognition is often an important tool to develop new coping strategies. The team should contain social workers who have obtained enough expertise about the craniofacial deformity allowing them to treat individual mental problems, system problems (parents/family) as well as to deal with practical questions and problems. In view of possible system problems, it is recommendable that the medical social worker should be familiar with these methods.
Pedagogical care is a valuable support when preparing the child and parents for interventions/procedures.
There is a clinical impression that it is valuable for a group of parents to discuss their reactions and emotions with a specialized psychosocial worker. Normalizing the reactions and helping to integrate ambivalent emotions aids the parents in exercising their parental duties in such a way that this will benefit the child in learning to develop himself or herself.
The craniofacial center needs to provide good information both orally (tailored to the level of the client system) and on a website/as flyer material.
Both in nonsyndromic and syndromic craniosynostosis, a primary contact within the team (the care coordinator) is available who at initial screening can answer both medical and psychosocial questions and if necessary can refer to specialized social work.
Parents/patients have easy access to the care coordinator. The care coordinator has an overview of the treatment path.
It is highly recommended that the multidisciplinary team can offer psychosocial care during each phase of the treatment.
Throughout the years, easy access to a psychosocial worker is offered on a regular basis to map the transitory phases of the families and thereby prevent psychosocial problems as much as possible (prevention).
Individual child treatments are offered as well as family treatments and parent counseling, tailored to the level of the client system.
When the child is reaching school-going age, a specialized social worker will inquire after the choice of school and counseling will be provided for questions and problems arising here. This specialized social worker is expected to be familiar at least with the organization of the educational system, so that he or she can refer correctly if necessary.
Pedagogical care is standard for surgical procedures and available when necessary at the outpatient department to support children and their parents with the preparation/care.
During the entire medical treatment of the child, it is necessary to regularly inquire after symptoms of PTSD in child/parents (eg, by a nurse practitioner).
On suspicion of PTSD in the parents or child, her or she needs to be referred to the psychologist of the craniofacial team or to a psychologist in (the neighborhood of) the place of residence.
Adolescents who wish surgical treatment need to be offered at least 1 contact with a specialized social worker to check whether their expectations are realistic.
The craniofacial center needs to have an Early Intervention Program/peer supervision group in place to increase resilience.
During long sustained treatments that require a lot of motivation from the patient psychosocial screening and, if necessary, support, is desirable.
Patients and their parents are offered contact with peers/a patient association.
Knowledge transfer from the craniofacial team to the periphery (Child Health Clinic; general practitioner; pediatricians) should be well organized.
19. CRITERIA FOR THE CRANIOFACIAL CENTER AND ITS TEAM MEMBERS
What are the criteria a craniofacial center and its team members should meet?
How is the care for patients with craniosynostosis coordinated in the Netherlands?
How to manage quality control of the craniofacial center?
Question 1: What Are the Criteria a Craniofacial Center and Its Team Members Should Meet?
The management of patients with nonsyndromic or syndromic craniosynostosis requires a multidisciplinary approach, as the care is complex. Because craniosynostosis is a rare condition, centralization of care is desirable resulting in a maximum of expertise, ensuring a high quality of care, and permitting scientific research aimed at improving care. Multidisciplinary care requires good coordination and communication within the team and with external health professionals and the patients and parents. Responsibilities and tasks of the various care providers within the team need to be clearly defined.
Comparative studies of the results of different craniofacial teams make benchmarking possible and can exert a positive effect on the quality of care. Benchmarking may take place both on a national and on an international level. Team and overall audits will provide an important contribution to the quality of care, but also to multicenter studies and innovation.
Summary of the Literature
There appear to be 2 types of team organizations worldwide: A team focused on craniofacial deformities only, or a craniofacial team that also treats cleft lip/palate. In the United States and Asia, we generally see a combination of the cleft lip and palate team and the craniofacial team, with an overwhelming majority of cleft lip and palate patients. In Europe, Australia, and Canada, we usually see separate craniofacial teams. In Great Britain, there are 4 recognized craniofacial centers nationwide. The separate craniofacial teams treat a larger concentration of patients with craniosynostosis and other craniofacial growth deformities (hemifacial microsomia, Treacher-Collins syndrome, craniofrontonasal dysplasia, clefts, and craniofacial tumors). Also, the team composition varies, as summarized in .
Apart from the specialties mentioned in , the following disciplines may also be part of the team: pediatric IC/neonatal IC, photographer, medical illustrator, and coordinator.
The following additional requirements are mentioned:
* Total 1 or 2 representatives of each specialty should be available—and preferably 2 especially for the core specialties—thereby benefiting flexibility, clinical support, collaboration, and quality.
* The craniofacial team should always include a neurosurgeon.
* The presence of a specialized IC is strongly encouraged or a requirement.
* Team members should possess appropriate knowledge and skills.
* The noncore specialties do not have to be present at every consultation, but should be available for consultations.
* The different team members come into action at the proper moment during the treatment path.
* A team leader should be appointed.
* Teams should organize themselves and preferably certify themselves.
* Teams should exchange data on an international level (education, research).
* A pediatrician should always be involved for a patient with Apert syndrome.
* Joint consultations should be held.
* The team should convene on a regular basis.
* Conduct a survey to evaluate patient satisfaction.
In the literature, the roles of the different specialties are not always discussed. The ACPA does not even mention specialties, but it does mention the necessary specialist knowledge and skills.
Roles of the specialists mentioned are the following:
* Plastic surgeon: operative correction of cranial/facial deformities, including outer ear/hands
* Neurosurgeon: trepanning with/without reconstruction; analysis and therapy of brain malformations
* Oral and maxillofacial surgeon, surgical correction of the maxilla and mandible: if necessary surgical correction of the face with plastic surgery
* Otolaryngology/audiology/speech therapy, hearing: speech and breathing analysis and treatment
* Orthodontist: collecting data for monitoring craniofacial growth, assisting in the decision about the treatment modality, orthodontic treatment in accordance with surgical requirements, participation in perioperative care and retention, and evaluation of treatment results
* Dentist/prothetist/dental hygienist: dental care (including position of the teeth) and shape of the jaw, possibly with occlusion images
* Pediatrician: analysis of general health, growth and development in children
* Ophthalmology, eye direction, and eye function (visual acuity, strabismus, fundoscopy)
* Genetics, analysis of congenital defects and heredity: gene/chromosome analysis
* Anesthesiologist, perioperative monitoring of vital signs, anesthetics, and pain management
* Radiologist assesses the imaging tests and helps select the optimal treatment
* Psychology/social work: psychometric/psychologic screening and treatment/guidance, social, and financial family counseling
* Nurse practitioner, care coordinator, guiding the patient and parents, dietary guidance, monitoring of growth and development
Aims of treatment within a multidisciplinary structure:
* Better (protocol based) care and coordination (eg, improvement of quality by concentration of care)
* Lesser burden for the patients/parents
* Higher satisfaction of the patients/parents
* More efficient utilization of resources
* Better information provision
* Conduct a survey to evaluate the patient's satisfaction
Furthermore, an important aim for the craniofacial team should be:
* To organize meetings for parents, patients, relatives, other health care professionals, and the community in a broader sense to enhance understanding of craniofacial deformities
* To organize or support parents’ associations
Pedagogical care is a valuable tool to prepare the child and his or her parents for the surgical procedures/treatments (see chapter 18).
Craniofacial care needs to be provided within a multidisciplinary setting, in which cleft lip/palate is not treated by the craniofacial team (“pure” craniofacial). A treatment path needs to be established and the team members’ roles should be defined clearly. Joint consultations are held with the core specialties present and the other team members available for consultation.
A craniofacial center offers the following health care providers and facilities:
A back up of the core specialties (thus at least 2 specialists for neurosurgery, plastic surgery, and oral and maxillofacial surgery) is advised to guarantee continuity of health care.
The health care provided by the team is based on the protocols, which are yearly reviewed. Adjustment of the multidisciplinary care for each individual patient is regularly discussed in team meetings. Outcomes will be communicated to the patient and parents and to any other health care provider not belonging to the team.
One team member will act as team leader and will as such ensure that the team meets all its requirements. Besides, there will be a care coordinator, usually a nurse practitioner/nursing specialist, who assures the coordination of the care and who is the contact person for the patient and for other health care providers not belonging to the team. The coordinator of the craniofacial team will ensure that the different examinations (inside or outside the center) are conducted on the recommended moments and that the results are provided to the primary responsible health care provider.
It is the team's task to provide and optimize high-standard protocol-based craniofacial care. Good coordination, lesser burden of patient/parents, high satisfaction of patient/parents, efficient utilization of resources, better information provision, organization of meetings for parents, patients, relatives, other health care professionals and the community in a broader sense, and organization or support of parent associations are core duties. National and international profiling and certifications are essential.
Question 2. How Is the Care for Patients With Craniosynostosis Coordinated in the Netherlands?
Summary of the Literature
The (minimal) team size is discussed in few publications; the central idea is that quality of care will improve by concentrating this specific care.
* One team per 10 to 20 M inhabitants
* One team per 30 to 40 M inhabitants
* Four teams per 56 M inhabitants (current situation in Great Britain)
* Compared with kidney transplantation: when teams perform 25 surgical procedures yearly, the mortality rate higher than when teams perform more than 100 surgical procedures yearly
* Benchmarking 23 teams by the ISCFS resulted in the following division of the number of intracranial surgical procedures: 0 to 11 surgeries in 9% of the teams; 12 to 23 in 9%; 24 to 35 in 30%; 36 to 51 in 17%; 52 or more in 35%
* American Cleft Palate-Craniofacial Association concludes that a sufficient number of patients needs to be treated for a craniofacial team to obtain and maintain expertise, maar does not specify any numbers
* Establishing formally recognized craniofacial centers (4 for 56 million people) will lead to a concentration of craniofacial care
Centralization and Coordination of Care in the Netherlands
With an incidence of 1 in every 2100 to 2500 births, craniosynostosis is a rare disease. The syndromic variant of craniosynostosis is even rarer. Each year, an estimated 100 children with craniosynostosis are born in the Netherlands. Care for these patients requires the support of multiple medical, dental, and paramedical specialties, whereby the coordination of care is essential, as indicated in the discussion of basic question 1 of this chapter. This is achieved by treating patients in a multidisciplinary team meeting a number of requirements:
1. Composition of the team (see the above-mentioned recommendations under basic question 1)
2. Experience with treatment of craniosynostosis
3. Having the necessary facilities
4. Good accessibility
5. Guaranteed continuity of the team as a whole and of its individual members
6. Systematic evaluation of the results
7. Innovation and scientific research
These requirements can only be met when the care of patients with craniosynostosis is centralized. A few studies demonstrate the value of centralization of craniosynostosis care. In the study of Haas, it is shown that treating a low number of patients annually is associated with perioperative blood loss. Nine nonsyndromic patients are presented, who underwent surgery within a period of 10 months. The average duration of surgery was 6.4 hours, which is unusually long. Blood loss was proportionally high with an average value of 846 mL. In a comparable study, Kang presents 43 patients during a period of 10 years, and also reports exceptionally long duration of surgery (4 hours for correcting scaphocephaly). In 23.3% of the patients, respiratory problems that were not anticipated occurred directly after recovery from anesthesia: of these 10 patients, 6 had cerebral edema, 3 were inadequately weaned off mechanical ventilation, and 1 bled persistently; 1 patient died. Hilling concluded that with increasing experience of the surgeon, the prevalence of temporal depressions after plagiocephaly or trigonocephaly decreases. Considering the many developments in the management of craniosynostosis, as, for example, in the surgical treatment of scaphocephaly, centralization is the only way to arrive at proper evaluation of new methods of treatment and comparative studies.
Furthermore, the criteria on experience in surgical treatments are important in the discussion about centralization. Based on learning curve and maintaining a level of competence, the Dutch Health Care Inspectorate (IGZ) and a number of scientific societies have set a minimum number of 20 operations each year per surgeon for low-frequent and highly complex care. A report of the Dutch Cancer Society in 2010 also recommends concentration of health care on the basis of criteria concerning the infrastructure, volume, and the degree of specialization of the hospital and verifiable good results of the health care provided. The Cochrane review of the National Pediatric Oncology Centre (NKOC) provides the scientific foundation for the proposition that the higher number of patients and/or further specialization leads to a lower mortality rate in pediatric oncology. It would seem self-evident that the minimum of 20 patients each year per surgeon should also apply to the surgical treatment of craniosynostosis (nonsyndromic and syndromic craniosynostosis surgeries together).
Centralization of health care for nonsyndromic craniosynostosis in the Netherlands requires at most 2 centers. Considering the fact that in the Netherlands facial surgeries for syndromic craniosynostosis, as in Le Fort III, monobloc, and facial bipartition, are rare (estimated 10 annually) and are associated with a higher surgical risk in the case of skull expansion, it is essential that these procedures are performed in only 1 center. It is an explicit wish of the patients and their parents and of the patient society LAPOSA that this highly complex care is provided in a center located in the Netherlands. Centralization on a European level is considered undesirable because of the language barriers and the less easy access. Considering the complexity of the pathology and treatment of syndromic craniosynostosis and the very low incidence, centralization of this treatment in the Netherlands in 1 center is desirable.
The literature is not conclusive about the minimal mass for a team: 1 team per 15 to 20 M inhabitants is the median (range 10–40 M, with minimally 35 essential procedures performed each year (range from several to over 100)). In anypatient, a sufficient number of patients must be treated to obtain and maintain expertise. Based on the number of patients in the Netherlands, 1 center could theoretically be enough. Having (a maximum of) 2 centers has the advantage of creating demographic spread within the Netherlands, providing innovations in health care by allowing for comparative studies between the 2 centers, being less dependent on 1 center, and providing the possibility of asking for a second opinion within the Netherlands. It seems advisable, in thispatient, to treat syndromic craniosynostosis within 1 center, considering the highly complex pathology involved in this matter. The working group considers it essential to analyze the results of these specific facial surgeries on a European/international level.
There is room for 1 craniofacial team for the management of patients with nonsyndromic and syndromic craniosynostosis and 1 craniofacial team for nonsyndromic craniosynostosis in the Netherlands. Both centers work together in the areas of education, research, patient careand quality-improving activities (such as a national audit).
The minimum number of intracranial surgeries for craniosynostosis is 20 each year per surgeon.
Question 3: How to Manage Quality Control of the Craniofacial Center?
The literature provides little information, except Grol who mentions that the use of medical audits in the general practitioner practice for improvement of quality is hopeful. In the United Kingdom, experience has been gained during a few years now with an annual audit of the formally recognized craniofacial centers. The participants consider these meetings as valuable and these have been an incentive to set up multicenter studies.
Every team publishes an annual report and at least once yearly there will be a team meeting addressing:
New patients with craniosynostosis are registered with the Dutch Association for Cleft Palate and Craniofacial Anomalies (NVSCA).
Quality of care could be further evaluated by conducting b-annual audits of the treatment centers in the Netherlands and abroad.
A schematic overview is given in appendix I.
Management in the Primary Care Sector
Application of the flow diagram (appendix II) is essential to optimize recognition of craniosynostosis in the primary and secondary care sectors.
Upon recognition of an abnormal skull shape, the primary care health professional refers to the pediatrician, without additional diagnostics. On suspicion of craniosynostosis, this is done at the shortest possible term.
Management in the Secondary Care Sector
The pediatrician further evaluates the child with suspected craniosynostosis by performing a general and a specific physical examination. Imaging studies in the secondary care sector are advised against, unless proper arrangements have been made with the craniofacial center on performing and interpreting cranial images—and this does not lead to delay in further referral. On suspicion of craniosynostosis, the pediatrician refers to the tertiary craniofacial center at the shortest possible term.
Management in the Craniofacial Center
After referral to a craniofacial center, the craniofacial team distinguishes between nonsyndromic and syndromic craniosynostosis on the basis of a comprehensive physical examination and the family history on the occurrence of abnormal skull shape and other congenital anomalies.
The craniofacial center is expected to
* provide good information, both oral and via website and brochures.
* appoint a care coordinator within the team who is qualified to screen for both medical and psychosocial problems and can refer to specialized health care if necessary.
* facilitate parents/patients to have easy access to the care coordinator, who has an overview of the treatment path.
* offer regular and low-threshold psychosocial care.
* standardly involve educational care when children undergo surgery or visit the outpatient clinic visits, so as to help children and their parents prepare for procedures.
* facilitate contacts with peers and patient associations.
* provide for good knowledge transfer to health professionals in peripheral institutions.
In principle, mild presentations of craniosynostosis, such as a metopic ridge and partial synostosis of the sagittal suture with few morphologic abnormalities, are not indications for surgical correction. In all other types, operative correction of the deformity is indicated on both functional and cosmetic grounds.
A skull x-ray or ultrasonogram and a three-dimensional skull CT are performed to confirm the diagnosis. Genetic diagnostics are offered whether one or both coronal sutures are involved or when there is a family history of craniosynostosis.
Screening for increased ICP using fundoscopy is indicated before the initial cranial remodeling is performed. Its need has not been demonstrated in the case of early surgery (before the age of 6 months), but fundoscopy is recommended then.
Orthoptic and ophthalmologic evaluations are required at the first referral for unilateral coronal suture synostosis. These can be performed by any ophthalmologist in collaboration with an orthoptist. Ophthalmologically complex cases (such as absence of ocular muscles or keratitis) should be referred to a specialized center.
Cranial Vault Expansion
Operative correction of nonsyndromic craniosynostosis is preferably performed within the first year of life. In case of orbital involvement, the orbit is also corrected in the same operation.
Performing strip craniectomy for nonsyndromic craniosynostosis without additional measures is advised against. The choice of other techniques for correction of scaphocephaly (ie, extended strip craniectomy, complete cranial remodeling, and strip craniectomy in combination with molding helmet or springs) is based on age at presentation and severity of the deformity.
The anesthesiologic goals in craniofacial surgery can only be achieved in specialized pediatric centers, as laid down in the guideline “Surgery in children” issued by the Netherlands Association of Anesthesiologists. Invasive monitoring is recommended in open procedures with expected massive blood loss.
Availability of a bed in a PICU postoperatively must be ensured. In less extensive interventions, medium care may suffice, although it should be realized that these patients mostly are very young children with a smaller circulating blood volume in whom even little postoperative blood loss must be well monitored.
Administration of paracetamol will be adequate to relieve postoperative pain (guideline on postoperative pain management).
Screening for increased ICP using fundoscopy is performed at least at the ages of 2 and 4 years. This ophthalmologic evaluation can be performed by any ophthalmologist.
The care coordinator in the craniofacial team is responsible for having the fundoscopies performed at the recommended moments and for communicating the results to the most responsible physician.
If papilledema has been confirmed, a CT or MRI scan is made to assess changes in ventricle size (hydrocephalus). Other pathology that could contribute to increased ICP, such as OSAS, is excluded. Revision of the diagnosis of nonsyndromic craniosynostosis is reconsidered. An invasive ICP measurement is to be considered in case of unexplained worsening of vision, progressive vertex bulge without papilledema, or when decision-making on reoperation is complicated by doubt about the extent of ICP increase. The choice of treatment for increased ICP is dependent on the causal factors; a cranial vault expansion is preferred.
Children diagnosed with a scaphocephaly should be evaluated for speech- and language problems from the age of +2 years. Psychologic assessment of children with craniosynostosis can either be performed in the hospital where the child is being treated for the craniosynostosis, or regionally. If the assessment takes place elsewhere, it is important that the results are communicated to the psychologist in the craniofacial team. The psychologist in the team provides support in cases of nonsyndromic craniosynostosis when a child's behavioral problems are suspected to be related to the craniosynostosis.
Follow-up of patients with a nonsyndromic craniosynostosis is recommended up to the age of 18 years, at which age skull growth has been completed.
If multiple dysmorphias/visible congenital abnormalities are seen, additional diagnostic procedures are indicated as early as in the first weeks of life. Targeted DNA diagnostics can be requested if a clinical syndrome diagnosis has been made. More extensive evaluation is indicated in cases of syndromic craniosynostosis without clinical diagnosis (= a nonclassifiable, complex craniosynostosis) or a clinical diagnosis, which was genetically not confirmed.
Screening for increased ICP using fundoscopy is indicated in syndromic craniosynostosis preceding the initial cranial remodeling.
A skull x-ray or ultrasonogram and a three-dimensional skull CT (including sections of the petrous parts of the temporal bones) are made preoperatively as well as brain MRI to screen for Chiari malformation and to serve as baseline image of ventricle width. Patients with ventriculomegaly should be followed by means of MRI scanning and 6 monthly fundoscopy. A multidisciplinary treatment plan is drawn up if a patient shows progressively increasing ventricle width or papilledema.
Orthoptic and ophthalmologic evaluations are required in all syndromic types of craniosynostosis at the first referral. These can be performed by any ophthalmologist in collaboration with an orthoptist. Depending on the results, follow-up examination and treatment is arranged. Ophthalmologically, complex cases (such as absence of ocular muscles or keratitis) should be referred to a specialized center.
For all syndromic types of craniosynostosis, a hearing test is indicated in the first year of life with tympanometry and otoacoustic emissions. In case of an ambiguous result, brainstem evoked response audiometry and/or free-field audiometry is performed in the local audiology center. If the CT scan shows structural abnormalities of the outer-, middle- and/or inner ear, adequate therapy is chosen at an early stage. Standard speech/language testing is initiated at age 2 years. The team coordinator is expected to see to it that hearing tests are performed (and that action is undertaken if necessary). The treating otorhinolaryngologist is expected to undertake the necessary action after an abnormal result of a hearing test.
Screening for OSAS is essential in view of the high prevalence of OSAS in children with a syndromic craniosynostosis. Furthermore, evaluation of OSAS is indicated only if the medical history points at nocturnal breathing problems. Parents should be instructed to recognize symptoms indicative of OSAS and to contact the team coordinator if symptoms occur. Clinical symptoms of OSAS in combination with an abnormal saturation profile are strongly suggestive of OSAS, in which patient (additional) polysomnography is performed to determine severity of the OSAS (in conformity with the guideline on pediatric OSAS).
As OSAS in children with a syndromic craniosynostosis is a multifactorial condition, endoscopy of the upper airways is indicated to determine the level of obstruction. Treatment for OSAS is selected based on the severity of OSAS, the patient's age, causal factors, and any other functional problems (such as increased ICP or exorbitism).
Treatment of the hand deformities in Apert patients is started as early as possible and is performed by a (pediatric) hand surgeon. In view of the complexity of the hand deformities in the Apert syndrome, it is strongly recommended to concentrate care in a specialized center for congenital hand deformities. The treatment and follow-up of any elbow-, shoulder-, foot- and hip problems is performed by a pediatric orthopedist, rehabilitation expert or plastic surgeon. The care coordinator maintains contacts with the health professionals outside the center that is responsible for the Apert patient's care.
Abnormalities of the lower extremities in the Crouzon/Pfeiffer, Saethre-Chotzen, and Muenke syndromes are usually so mild that surgical treatment is not needed. If functional problems are seen, the patient should be referred to a specialized team for congenital hand deformities.
Initial Cranial Vault Expansion
The initial cranial vault expansion in Apert or Crouzon/Pfeiffer syndrome is an occipital expansion; in Saethre-Chotzen of Muenke syndrome a fronto-orbital advancement. Monobloc advancement with distraction, however, should be considered as initial intervention if the patient shows vision-threatening exorbitism and/or severe OSAS. The initial cranial vault expansion in syndromic craniosynostosis is performed within the first year of life. In view of the great risk of increased ICP in the Apert and Crouzon/Pfeiffer syndromes and the somewhat limited risk in Saethre-Chotzen syndrome, we recommend performing it approximately the age of 6 to 9 months, or earlier in case of proven increased ICP. For patients with the Muenke syndrome, it may be advisable to perform the operation between 9 and 12 months, as they apparently have a lower risk of increased ICP and the esthetic results of surgery may fall short of expectations.
The anesthesiologic goals in craniofacial surgery can only be achieved in specialized pediatric centers, as laid down in the guideline “Surgery in children” issued by the Netherlands Association of Anesthesiologists. Availability of a bed in a PICU postoperatively must be ensured. Administration of paracetamol will be adequate to relieve postoperative pain after cranial remodeling (guideline on postoperative pain management).
Follow-Up After Initial Cranial Vault Expansion
In syndromic craniosynostosis, screening for increased ICP using fundoscopy should take place at least annually until the age of 6 years. Muenke syndrome seems to be an exception to this rule, but considering the limited scientific underpinning, the same recommendation applies. If papilledema is confirmed during the follow-up period, a CT of MRI scan is made to evaluate changes in ventricle width (hydrocephalus). Other pathology that could contribute to increased ICP, such as OSAS, is excluded. An invasive ICP measurement is to be considered in case of unexplained worsening of vision, progressive vertex bulge without papilledema, or when decision-making on reoperation is complicated by doubt about the extent of ICP increase. Treatment of increased ICP is determined by causal factors in the individual patient.
The care coordinator in the craniofacial team is expected to see to it that the fundoscopies are performed at the recommended moments and that the results are communicated to the most responsible physician.
Hydrocephalus should be distinguished from ventriculomegaly by means of serial imaging with repetition of MRI in any case at 4 years of age, and earlier if clinical symptoms occur. Patients diagnosed with ventriculomegaly should be followed using MRI and 6 monthly fundoscopy. A multidisciplinary treatment plan is drawn up if progressively increasing ventricle width or papilledema is seen.
Shunting is contraproductive to cranial vault expansion. Therefore, efforts should be directed at treating the increased ICP in hydrocephalus by means of cranial vault expansion whenever possible. Shunt placement is to be considered if increased ICP is sustained on the long term (2 months) after adequate cranial vault expansion.
Follow-up screening for the presence of Chiari malformations in patients with Crouzon/Pfeiffer syndrome by means of MRI scanning is strongly recommended at the age of 4 years and as well on clinical suspicion of Chiari I malformation. Surgical treatment of Chiari malformations is recommended only if the patient is symptomatic. Otherwise, the pediatric neurosurgeon initiates active follow-up with sixth monthly assessment of neurologic symptoms and the presence of papilledema, as well as an annual MRI of MRV. If occipital decompression (for Chiari) is indicated, abnormal occipital venous drainage must be excluded preoperatively.
Children diagnosed with the syndrome van Apert should be evaluated for speech- and language problems from the age of ±2 years. Children with a syndromic craniosynostosis should undergo cognitive and behavioral testing at a young age and again around the age when type of (elementary) school is chosen. Repeat testing is recommended at age 8 or 9 to identify any learning disorders. Psychologic testing of children with a syndromic craniosynostosis is preferably done by the psychologist of the treating craniofacial team.
Psychosocial care for the family should be easily accessible during the entire treatment path, and counseling should be based on a system perspective.
Adolescents who wish surgical treatment need to be offered at least 1 contact with a specialized social worker to check whether their expectations are realistic. The craniofacial center should have an Early Intervention Program/peer supervision group in place to increase resilience. During long sustained treatments that require a lot of motivation from the patient psychosocial screening and, if necessary, support, is desirable.
For all syndromic types of craniosynostosis, a hearing test is indicated annually in the first 4 years of life, with tympanometry and otoacoustic emissions, and if possible with a pure tone audiogram from age 4 years. Therapy is selected based on the type of hearing loss (in conformity with guideline KNO) and may consist of tympanostomy tubes, conventional hearing aids or BAHA, cochlear implant, and reconstructive surgery for congenital middle ear abnormalities possibly at later age.
Oral hygiene must be monitored more intensively than in the general population. Regular orthodontic checkups are necessary on account of delayed dentition and abnormal eruption patterns (1 to 4 times yearly).
The Le Fort III distraction procedure for the correction of the maxillary hypoplasia (including exorbitism) in Apert and Crouzon/Pfeiffer patients is usually performed between ages 8 and 12 years, or from 18 years onwards. Vision-threatening severe OSAS and/or severe exorbitism may be reason to perform this intervention at a younger age (see chapter on OSAS). A monobloc distraction is preferred for young children (≤6 years), depending on earlier interventions. As 12 to 18 year olds have a higher risk of psychosocial problem or may have unrealistic expectations, the Le Fort III procedure is preferably not performed at these ages (see chapters 17 and 18). The Le Fort III distraction with external frame is the method of choice in view of ease of placement and removal of the frame and the optimal vector control.
Monobloc distraction in syndromic craniosynostosis patients is indicated in case of severe exorbitism (globe luxation and/or corneal injury) with
1. severe OSAS at the time of the protocol-dictated initial cranial vault expansion
2. severe OSAS in combination with increased ICP
Monitoring of occlusion is indicated after the Le Fort III or monobloc procedure. Orthognatic surgery is recommended if malocclusion is found (eg, Le Fort I, bilateral sagittal split osteotomy). The operation is planned after age 18 years.
Hypertelorism is preferably corrected from the age of 4 or 5 years on using the facial bipartition technique (with or without midface advancement by means of distraction). The orbital box osteotomy technique can be applied after sufficient eruption of the maxillary dentition (from approximately the age of 14 years) and can be well combined with additional orthognatic surgery.
Immediately after surgery/distraction osteogenesis, orthodontic retention is indicated to stabilize the result and prevent relapse. Provided the oral hygiene allows for this, permanent retention is achieved by means of retention wires and in addition, a retention device that stabilizes the dental arches in relation to each other. To ensure stability of the combined orthodontic-surgical interventions, orthodontic and facial orthopedic monitoring of the development into adulthood is indicated by means of standard protocol. Evaluation at least 2 years after treatment is required.
If a SARME procedure is performed in syndromic craniosynostosis patients, a tooth-borne distractor is preferred during a bone-borne distractor. A bone-borne distractor, however, is indicated when the maxilla is extremely narrow and there is not enough space for a tooth-borne distractor (Hyrax). The thick palatal mucosa impedes the placement of a bone-borne distractor. A SARME procedure is performed from the age of 14 to 15 years.
Follow-up of patients with a syndromic craniosynostosis is recommended until the age of 18 years, at completion of cranial and facial growth.
Participants of the working group: J. Beijer1; A. Mus1; N. Naus2, MD, PhD; A. Gonzalez Candel3, MD; H. de Gier4, MD; L.J. Hoeve, MD, PhD4; G.C.B de Heus5, MD; K. Joosten, MD, PhD5; E.B. Wolvius, MD, DDS., PhD6; T.H.R. de Jong, MD7; E. ter Linde, MD PhD7; M.L.C. van Veelen, MD7; I.M.J. Mathijssen, MD, PhD8; L.N.A. van Adrichem, MD, PhD8; C.M. van der Horst, MD, PhD8; R. van der Hulst, MD, PhD8; J.J.N.M. van der Meulen, MD, PhD8; Kuijpers-Jagtman A., DDS, PhD9; E. Ongkosuwito, DDS, PhD9; A.J.M. Hoogeboom, MD10; J. Okkerse, PhD11; F. Meertens12.
1 The Dutch National Cranial and Facial Deformities Patients and Parents Association (LAPOSA)
2 TheNetherlands Society for Ophthalmology
3 The Netherlands Society for Anesthesiology
4 The Netherlands Society for Otorhinolaryngology
5 The Dutch Association for Pediatrics
6 The Netherlands Society for Oral Medicine and Oral and Maxillofacial Surgery
7 The Netherlands Society for Neurosurgery
8 The Netherlands Society for Plastic Surgery
9 The Society for Orthodontists
10 The Netherlands Society for Clinical Genetics
11 The Dutch Association of Psychologists
12 The Netherlands Society for Relationship Counseling and Family Therapy
Appendix II. Flowdiagram Bredero-Boelhouwer
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