Rett syndrome is a neurological disorder caused by mutations in the MECP2 gene (1). Core features include a period of normal development followed by regression with loss of communication and hand function skills, the development of hand stereotypies, and impaired gait (2). In addition, Rett syndrome is associated with epilepsy (3), scoliosis (4), and poor growth (5,6).
Growth retardation is one of the supportive criteria for Rett syndrome (2,7). Poor growth has been observed as early as 3 months of age (8) and may continue into adulthood (5,6,9,10). Contributing to this may be a number of factors affecting food intake, both separately and in combination (5,6,9,10), including feeding difficulties, oromotor dysfunction, and other digestive tract disorders, factors that themselves are likely to be determined by genotype (11) and, as such, are an intrinsic component of the disorder. There are additional neurological complexities such as apraxia, autonomic dysfunction including hyperventilation, disrupted sleep patterns, and the development of scoliosis, each of which is likely to have some influence on feeding and growth. Thus, unlike many other neurological disorders, Rett syndrome can be considered as a pervasive disorder of growth (12) requiring specific strategies for management over and above what is typically required for children with other developmental disabilities (13). Data from the Australian Rett syndrome population indicated that feeding difficulties manifested as prolonged feeding times in approximately three-fourths; there were requirements for food to be pureed, mashed, or chopped in approximately two-thirds; gagging or choking with food or liquids occurred in approximately one-fourth; and one-fifth required enteral nutritional support (6). A US survey of 983 families with a daughter with Rett syndrome found similarly that 28% had a gastrostomy (5). Those with a late truncating MECP2 mutation including C terminal deletions were more likely to have higher body mass index and weight z scores compared with other mutations, although there was less apparent variation in height by mutation (6). Recommendations that take into account specific issues associated with Rett syndrome could contribute usefully to the nutritional management in this disorder.
There are few studies available on the management of poor growth in Rett syndrome and these are generally restricted to small case series (10), narrative (14), or systematic reviews, and position statements in the general neurodevelopmental literature (15–17). Because Rett syndrome is rare, most clinicians typically have exposure to few patients. There is a need for systematic review of the literature and the pooling of the expertise to indicate present best practice with regard to nutritional assessment and management.
A consensus-building process using the Delphi technique was used to develop clinical recommendations for the assessment and management of a range of gastrointestinal problems in Rett syndrome. This article describes the development of recommendations relating to the assessment and treatment of issues relating to energy intake and feeding difficulties, including consideration of gastrostomy.
This project took the format recommended for the development of clinical guidelines by the National Health and Medical Research Council, Australia. The project was directed from the Telethon Institute for Child Health Research, Western Australia from 2009 to 2011 and was approved by the ethics committee of the University of Western Australia.
Literature Review and Parent Perspectives
A literature search was performed. Databases included PubMed, MEDLINE, the Cochrane Library, EMBASE, CINAHL, PsychINFO, Proquest Health and Medical Complete, and Web of Science; online libraries included those of the World Health Organization, CMA—Clinical Practice Guidelines, Geneva Medical Research, the National Guideline Clearinghouse, National Electronic Library for Health, Scottish Intercollegiate Guidelines, National Institute for Health and Clinical Excellence, and the Trip Database. Search and key words included combinations of Rett syndrome, cerebral palsy, developmental disability, intellectual disability, comorbidity, gastrointestinal, growth, and feeding. The search was limited to full articles in English from 1986 to 2012. Statements relevant to the clinical assessment and management of poor growth in Rett syndrome were extracted from the full text.
Rettnet, an online e-mail information interchange for parents/individuals with an interest in Rett syndrome (18), was reviewed to collect parent and caregiver perspectives on poor growth and contributing factors such as energy intake and feeding difficulties. Postings from January 2008 to March 2009 were reviewed.
Initial Expert Panel Recruitment, Guideline Development, and Redrafting Using the Modified Delphi Process
Clinicians in the disciplines of developmental pediatrics, child neurology, clinical genetics, pediatric gastroenterology, pediatric surgery, dietetics, speech-language pathology, and nursing with experience with Rett syndrome from different countries were identified through networks of researchers, publications, and the Australian Rett Syndrome (4) and InterRett (19) databases. Network sampling using collegial recommendations was used to expand the sample. Potential participants were contacted by e-mail to request their participation with English as the language used. Fifty-seven clinicians were successfully contacted and 38 (66.7%) agreed to participate as the expert panel.
Referenced statements extracted from the literature were categorized into topic areas and accompanied by a 5-point Likert scale for agreement rating (strongly agree, agree, neither agree or disagree, disagree, strongly disagree) with space for comments. If there was no literature or in response to Rettnet postings, an open-ended question on management was constructed. Parents who were participants in the Australian Rett Syndrome Consumer Reference Group reviewed the proposed research plan and scope of the statements. The statements and questions were listed in a Microsoft Word document format and an online version created using HTML form and PHP script. Participants could indicate their level of agreement with dropdown menus and type in comments in the spaces provided. Responses could be saved, edited, and submitted in stages. Data received were stored in a MySQL database (Sun Microsystems, Cupertino, CA) on a secure server located at the Telethon Institute for Child Health Research.
For the first round of the Delphi process, members of the expert panel provided feedback on the e-mailed Microsoft Word document or online version, which was username and password protected. Panel members were asked to respond to nominated sections relevant to their professional scope. A predetermined level of consensus was established: consensus was attained for which a minimum of 70% of responses were within 1 response category of the median response. The second guideline set was informed by these responses and returned comments and was then sent for consensus assessment. This process was a modified Delphi process because consensus or lack of consensus was clear at each time point, and therefore we did not send panel members their previous responses together with the median responses for the group. A level of evidence using the Scottish Intercollegiate Guidelines Network grading scheme (20) was applied to each item for which there was consensus: level 1 representing evidence from systematic reviews and randomized controlled trials (RCTs), level 2 case control or cohort studies, level 3 case reports or case series, and level 4 expert opinion.
Literature Review and Parent Perspectives
Search of the scholarly databases revealed 300 citations as potentially relevant. Of these, 77 articles and 3 sets of guidelines from online libraries were retrieved and reviewed in full text: 31 supported the final guideline draft. The first draft of the recommendations was reviewed to check that it contained the main issues raised by families in the Rettnet postings.
Expert Panel Participation
Of the 38 clinicians agreeing to participate, 27 (71.1%) provided data. Seven (25.9%) were child neurologists, 6 (22.2%) were gastroenterologists, 4 (14.8%) were clinical geneticists, 3 (11.1%) were pediatricians, 2 (7.4%) were dieticians, and 2 (7.4%) were speech-language pathologists. There was also 1 (3.7% each) disability specialist, nurse, and dysphagia and feeding specialist.
Initial Guideline Draft and Redrafting Using the Modified Delphi Process
The initial guideline draft comprised sections on the clinical assessment of energy intake, feeding difficulties, anthropometric measures, and consideration of gastrostomy, and treatment to increase energy intake, address feeding difficulties and use of gastrostomy. It included 46 statements, 34 questions, and a reference list, and all of the Rettnet topics were represented. The responses to these questions were either supportive of the responses to the statements or were used to construct items for round 2. Twenty-eight items were included in the second round. The final document comprised 112 separate statements listed in Tables 1–6 (6,9,10,13–15,17,21–43) and there was agreement for 101 of these. These are presented together with levels of evidence, the median responses, and the percentage of responses within 1 category of the median.
Assessment of Energy Intake, Feeding Difficulties, and Anthropometry
The items describing the assessment of energy intake and feeding difficulties are shown in Table 1. There was consensus that nutritional assessment should be undertaken twice annually in those ages up to 12 years and annually thereafter. Information should be sought on the quantity and variety of food intake as well as texture preference and tolerance. A 24-hour diet recall is one mechanism for assessing food intake. It was considered important also to include enquiries or observation of mealtime stress for the child and the caregiver. Functional capacity for self-feeding, chewing, and swallowing can also be assessed from caregiver report, by direct observation or through video, or a referral to a speech-language pathologist, or occupational therapist for assessment can be valuable. The Schedule for Oromotor Assessment is an assessment tool for oromotor function in preverbal children (21,22) and has been used clinically for those with Rett syndrome (9). Questions to caregivers should concern drooling, constipation, vomiting and regurgitation, appetite, and the length of a typical mealtime. In the course of the consultation, the clinician should assess the need for physical positioning and postural supports, special equipment use, modification of food consistency, and prompting during mealtimes. Video fluoroscopy can be used to aid diagnosis of aspiration or other respiratory concerns and to inform texture modification needs (Table 1).
The items describing anthropometric and biochemical assessments are shown in Table 2. The measurement of weight was considered a critical part of clinical assessment. It was acknowledged that measuring height is more problematic especially when some girls and women are unable to stand or have a spinal deformity. For those who can stand, a stadiometer should be used, and for those younger than 2 years or unable to stand, supine length should be measured. Height can be estimated by measuring lower leg height for those ages 12 years who cannot stand (44). The algorithms for estimating height in centimeters are (3.26 × tibial length) + 30.8, or (2.69 × knee height) + 24.2 (44). It was agreed that a standard growth chart should be used to plot anthropometric measures over time and that a body mass index >25th centile was a reasonable target for clinical practice, with attention not to exceed the normal range (Table 2).
There was strong consensus that it was important to check the oral health of the patient and, where applicable, to make the appropriate dental referral. It was also agreed that the clinician should be aware of the possible additional energy requirements associated with the breathing abnormalities in Rett syndrome (6); however, to date, this has not been substantiated in a clinical study (45). In line with guidelines for the gastrointestinal care of children more generally (23), biochemical tests that should be undertaken as part of a nutritional assessment include hemoglobin, ferritin, white blood cell count, differential count, albumin/protein, urea, creatinine, electrolytes, vitamin D, and calcium. For those at risk for specific micronutrient deficiency, for example, for those taking some anticonvulsant medications, with poor growth, with symptoms suggestive of gastrointestinal malabsorption, or receiving at least 50% of their nutritional needs via enteral support, it was recommended that in addition to the above they should undergo testing of folate and B12. The frequency of biochemical testing should be determined by growth status (Table 2).
Management to Increase Energy Intake and to Reduce Feeding Difficulties
It was agreed that energy requirements should be based on serial growth measures, but if underweight, as indicated from serial growth charts, the energy requirements should be above the recommended energy intake for weight (24). Energy-dense foods are the most appropriate way of increasing energy intake (24–26), and frequent snacks of high-energy nutritional supplements can be administered. The panel agreed that a daily diet containing the recommended daily allowance for essential nutrients was optimal, administered during frequent small feeds offered throughout the day (14). There is no evidence that gluten-free or lactose-free diets are associated with improved growth (Table 3).
The majority of the panel members supported the promotion of optimal participation in feeding activities. For example, for some girls, it may be worth a trial of intensive therapy to optimize abilities because new skills can be learned (9). Physical positioning and postural support such as supporting jaw and avoiding hyperextension may be applicable (27–29). There may also be a need for special equipment use (28) or prompting and socializing during meals (29,30) (Table 4).
Consideration of Gastrostomy
The benefits of gastrostomy on which the panel agreed were that it would allow shorter mealtimes and reduced chest infections for the affected individual and an improved quality of life for caregivers (31). A gastrostomy in itself was not likely to result in reduced vomiting, reflux, constipation, or pain. The panel agreed that gastrostomy should be considered where there is failure to thrive despite efforts to increase energy intake, where oromotor dysfunction was causing an unsafe swallow, and where the length of the feeding time was causing stress for both caregiver and child; however, they also agreed that complications included infection, leaking, dislodgement or migration of the tube, intestinal perforation, and an increased risk of reflux. A summary of the benefits and complications of gastrostomy and gastrojejunostomy in relation to Rett syndrome is presented in Table 5.
If gastrostomy is performed, clinical monitoring following insertion of a gastrostomy tube should include a general and nutritional assessment, review of gastrointestinal function, and fluid status, check on feeding tube and stoma site and, most important, management of equipment and any support needs for the home (17) (Table 5). The panel agreed that aggressive nutritional therapy and gastrostomy placement can favorably alter adverse trajectories for growth in Rett syndrome (32,33). There was strong consensus on the need for parents to have practical and emotional support before and after the insertion of a gastrostomy tube (32). Fundoplication is not done routinely but needs to be considered in the presence of severe gastroesophageal reflux. There was also agreement that a trial with a nasogastric tube could assist in determining the potential for weight gain that may occur with gastrostomy feeds and correct existing malnutrition while waiting for a gastrostomy. A gastrojejunostomy tube can be used where gastrostomy feeds are not tolerated (34,35), but the panel agreed that disadvantages are their tendency to migrate back into the stomach, for the tube to obstruct, and the need for slow continuous feeds. In some settings, the dependence on physician support for changing gastrojejunostomy tubes may also be a disadvantage.
Poor growth is one of the supportive diagnostic criteria of Rett syndrome (2), usually observed as decreased velocity of head growth, height, and weight for age. The reasons for poor growth in Rett syndrome are not well understood, but contributing factors include genotype (6,46) and the motor impairments that affect chewing and swallowing (5). This project identified relevant literature relating to Rett syndrome and developmental disability, and with parental input and expert clinician consensus, integrated the evidence using a modified Delphi technique. We have worked systematically to develop recommendations that assist clinicians and families to engage in best practices (47). Our document is practical and comprehensive as a guide to the assessment and management of poor growth and feeding difficulties in Rett syndrome.
There is a clear understanding that comprehensive clinical attention to the medical health issues of Rett syndrome is required, including feeding and nutritional support as we have described. We recruited an international and multidisciplinary panel to provide expertise to discuss the relevant issues. Extremely little “drop out” of panel members occurred, and using methods similar to our previously developed guidelines for scoliosis in Rett syndrome (48), the group engaged in timely consultation using e-mail and online surveys. In the absence of high-level evidence, this document represents a present best effort to provide clinicians with practical guidance in this important area of care. Our recommendations are comprehensive with a life span approach and will be useful, not as a recipe for clinical practice but as a guide for embedding the monitoring and management of poor growth within routine management. A significant limitation of this project is the paucity of peer-reviewed literature, and therefore, literature in the general neurodevelopmental field and the consensus of experts played particularly important roles.
Growth problems are reported frequently, often by families who are puzzled that their daughter has an apparently good appetite. Assessment of 10 girls with Rett syndrome using doubly labeled water found that the energy expenditure of involuntary activities including hand stereotypies did not increase and in this small sample appeared not to have contributed to growth failure (45). The contribution of autonomic abnormalities including hyperventilation to growth failure has not been assessed to date. Some females gain excess weight in association with gastrostomy. Our panel recommended a regimen of feeding that aims for at least >25th centile as a minimum with due attention not to exceed the normal range. New centile curves based on 816 girls and women with Rett syndrome now provide additional information with which to monitor clinical progress and determine the necessity for intervention (36). Our recommendation would be approximately equivalent to the 50th centile values on the new Rett syndrome–specific growth charts, which were not available at the time of the Delphi process.
Poor feeding skills can contribute to poor growth including difficulties chewing and swallowing foods and involuntary tongue movements (5), presumably a result of altered muscle tone and dyspraxia as well as poor motor control. Hypersalivation, hyperventilation, and breath holding can further interfere with feeding. These difficulties are compounded by poor communication skills, which make it difficult for the girls and women to express what or how much they want to eat. As a result, fewer calories may be consumed than are necessary for growth and development. Cross-sectional studies have found that in women with Rett syndrome, hand function can be poorer (49) and the delay to first swallow longer (29), reducing abilities to self-feed. These findings are consistent with observations of increased muscle tone and paucity of movement with advancing age (50). There is a limited evidence base for the training of feeding skills to improve feeding (30,51,52), and benefits have nevertheless been observed for girls as well as women (52). This justifies assessment and a trial of intensive treatment for some because gains can be made, but more systematic investigation of the effectiveness of these therapy strategies is necessary to clarify this recommendation.
The decision by a clinician to recommend a gastrostomy and for a family to accept this is difficult in the management of Rett syndrome. Health outcomes of gastrostomy have been studied in general (31,37) and include advantages of improved height and weight gain (33); however, there are potentially many other benefits of gastrostomy such as improved respiratory health, decreased mealtime stress, and improved caregiver quality of life. There is a need to examine these issues systematically so that clinicians can support the emotive components that accompany this clinical decision making. There was no consensus that gastrostomy should be accompanied by fundoplication, and clinical practice appears to vary. It should be considered with caution in those with significant air swallowing given the case reports of rare stomach perforation (53,54). Our panel recommended in some instances a trial of nasogastric feeding may be used to assess the potential for weight gain, although some panel members described the associated discomfort as counterproductive. Clearer assessment of this management method is also required.
Rett syndrome is a complex and overwhelming disorder with many aspects to its medical management that are best undertaken using the expertise of specialists working in the context of a multidisciplinary team. We have developed practical baseline recommendations for the monitoring and management of poor growth and feeding difficulties in Rett syndrome using a comprehensive, multidisciplinary approach. The level of evidence for the statements was low and the expert panel drew heavily on clinical experience when determining their agreement. This document provides important leads for the planning of further research. For present clinical care, however, the recommendations can be used as a basic plan to promote discussion between caregivers and their clinicians and as an aid for clinical management.
The authors thank the Rett Syndrome Association, UK, for funding this study, the NIH and NHMRC for funding the Australian Rett Syndrome research program, program, the NIH for funding the Natural History Study in the US, and the International Rett Syndrome Foundation for funding the InterRett research program. The authors also acknowledge the valuable contributions of the expert panel members who participated in the Delphi technique. The expert panel members are Sue Abraham, PhD, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY; Bruria Ben-Zeev, MD, Pediatric Neurology Institute, Edmond & Lily Safra Children's Hospital, the Chaim Sheba Medical Center, Tel Hashomer, Israel; Elana Bern, MD, MPH, Boston Children's Hospital, Boston, MA; Sudge Budden, MD, Pediatric Development and Rehabilitation, Legacy Emanuel Children's Hospital, Portland, OR; Hilary Cass, FRCPCH, Neuroscience Unit, Great Ormond Street Hospital for Children & Institute of Child Health, London, UK; Carmelo Cuffari, MD, Johns Hopkins Hospital, Baltimore, MD; Carolyn Ellaway, PhD, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia; John Fortunato Jr, MD, Wake Forest Baptist Medical Center, Winston-Salem, NC; Michael Freilinger, MD, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; Suzanne Geerts, RD, MS, Civitan International Research Centre, University of Alabama, Birmingham, AL; Richard Haas, MD, Department of Neurosciences, University of California San Diego, La Jolla, CA; Peter Humphreys, MD, FRCP, Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Mary Jones, MD, Katie's Clinic for Rett Syndrome, Children's Hospital & Research Center, Oakland, CA; Omar Khwaja, MD, PhD, Boston Children's Hospital, Boston, MA; Jane Lane, RN, BSN, Civitan International Research Centre, University of Alabama, Birmingham, AL; Ted O’Loughlin, FRACP, Department of Gastroenterology, Children's Hospital at Westmead, Sydney, New South Wales, Australia; Alan Percy, MD, Department of Pediatrics and Neurology, University of Alabama, Birmingham, AL; Mercè Pineda, MD, PhD, Department of Neuropediatrics, Hospital Sant Joan de Déu, Barcelona, Spain; Carolyn Schanen, MD, PhD, Human Genetics Research, A.I. duPont Hospital for Children, Nemours Biomedical Research, Wilmington, DE; Catherine Senez, Université Paris Diderot, Paris, France; Steven Skinner, MD, Greenwood Genetic Center, Greenwood, SC; Eric Smeets, MD, PhD, Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, the Netherlands; Sue Thompson BSc, AdvAPD, Genetic Metabolic Disorders Service, Children's Hospital at Westmead, Sydney, New South Wales, Australia; Batia Weiss, MD, Division of Pediatric Gastroenterology and Nutrition, Edmond & Lily Safra Children's Hospital, the Chaim Sheba Medical Center, Tel Hashomer, Israel; Helena Wandin, PhD student, Department of Public Health and Caring Sciences, Research in Disability and Rehabilitation, Uppsala Universitet, Uppsala, Sweden; and Ingegerd Witt-Engerstrom, MD, PhD, Swedish Rett Center, Froson, Sweden.
Treatment of Constipation and Diarrhea in the 7th Century
If the child's belly is constipated, a little honey may be put into its food; and if even then it does not obey, turpentine,* to the size of a chick-pea, may be added. When the bowels are loose, millet, in particular, ought to be administered.
Paulus Aegineta** (625–690 AD) Epitome, Lib I, cap 10.
*Turpentine, a resin distilled predominantly from pines, was used topically for wound asepsis, lice, and, when mixed with lard, as a chest rub for chest coryza. Orally, it was used as an antihelminthic and defecation lubricant. Even the ancients recognized the risk of aspiration and therefore prescribed a “pellet.”
**Paulus Aegineta (625–690) wrote the final compilation of the Patristic era, Epitome, in 7 comprehensive volumes. The first dealt with dietetics, the second pathology, and the third diseases of brain, nerves, ear, nose, and throat. Volume 4 focused on skin and burns, 5 on poisons, 6 described surgery, and 7 pharmacology. Volume 6 was the most valuable because it illustrated the commendable surgical skills of the 7th century. Aegineta described the removal of foreign bodies from the nasopharynx and esophagus, by tonsillectomy, tracheotomy, mastectomy, hysterectomy, and even abdominal trocar insertion. To even contemplate such procedures at the time suggests that he likely had reasonable success.
—Submitted by Angel R. Colón, MD
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