We did not assess differences in functional outcomes between those who had four-digit versus five-digit reconstructions because controlling for hand dominance and sex diluted the sample sizes significantly and disallowed meaningful comparisons.
Most subjects (17 of 22) had completed high school, four were still in high school or a technical school, and one was completing a post–high school program. Four had completed a 4-year undergraduate program, three were enrolled, three were planning to enroll, and one had enrolled but left without completion. One subject was in a graduate program, and two had started graduate programs but left without completion.
All subjects reported employment history, paid and voluntary, in a variety of fields. A few subjects specifically mentioned activities that help others with similar disabilities. Two subjects reported periods of unemployment and difficulty securing jobs. Eight subjects had driver’s licenses (although not all drove), and four were in the process of getting a driver’s license.
Lifestyle and Social Interactions
Subjects reported a range of living situations, from living with immediate family (n = 17), with a spouse (n = 1), or alone (n = 4). Most subjects reported completing household activities, such as cleaning, laundry, and pet care. Most participated in athletic activities, including swimming, tennis, surfing, and team sports such as basketball and baseball. Several competed in the Special Olympics.
Subjects reported a range of social interactions, including those with immediate and extended family and friends. Several subjects had dated and one was currently dating. One subject was married and two subjects had children. Several reported social interactions with others with Apert syndrome. A few subjects described social anxiety, and one noted a lack of friends.
This study offers novel data on long-term functional upper-extremity and health-related quality of life outcomes in adults with Apert syndrome. In our study population, self-reported health-related quality of life outcomes were more favorable than functional measures alone would suggest. Average total Jebsen Hand Function Test times were significantly slower than population norms. Similarly, total active motion and pinch strength measures were very low, mostly because of the lack of interphalangeal joint motion in all digits. Nevertheless, despite the unfavorable measured functional data, average total scores for the 36-Item Short-Form Health Survey were more favorable than population norms, and average Disabilities of the Arm, Shoulder, and Hand questionnaire score indicated a relatively low level of perceived disability. Furthermore, the qualitative data collected from semistructured interviews suggest a high level of functioning among these adult patients with Apert syndrome.
Our findings in these adults mirror the findings of others who compared functional measures with self-reported health-related quality of life outcomes in adults with congenital hand differences. Goldfarb and colleagues studied 21 adult patients (25 wrists) who were treated with centralization for radial longitudinal deficiency. They found a 62 percent increase over population norms in the speed of performing the Jebsen Hand Function Test, but the Disabilities of the Arm, Shoulder, and Hand questionnaire only showed mild disability of 18. They concluded that hand function remained markedly abnormal in these patients, whereas upper-extremity disability was mild.21 Stutz and colleagues assessed long-term outcomes after radial polydactyly correction in 43 thumbs. The treated thumbs had significantly weaker pinch strength than the unaffected thumbs of the same patients; however, the average Disabilities of the Arm, Shoulder, and Hand questionnaire score was only 4.5.22 The same group also found similar results in a different cohort of patients who were treated with on-top–plasty for radial polydactyly construction.23 Pinch strengths were below the 50th percentile of age-matched norms, and grip strength was just above the 50th percentile, but the average Disabilities of the Arm, Shoulder, and Hand questionnaire score was 4.3. Similar findings about an apparent dissociation between measured function and self-reported upper-extremity disability in adult patients with congenital hand differences has been confirmed by others as well.24 , 25
Nevertheless, polydactyly and radial longitudinal deficiency are often unilateral, and functional deficits in one limb can be overcome by a normal contralateral limb, thus leading to less disability. Such is not the case in Apert syndrome, where the complex syndactyly is always bilateral and enantiomorphic. Furthermore, although elbow and shoulder function was not directly measured in this study, many Apert syndrome patients have more proximal upper-extremity deficits, including radioulnar synostosis, humeral-ulnar synostosis (approximately 10 percent), and elbow and shoulder stiffness (that worsens as they age), thus further compromising function.2 Nevertheless, these functional issues translate to only mild disability, with an average Disabilities of the Arm, Shoulder, and Hand questionnaire score of 16.9 in this study. Although this value is 6.8 points higher than the population norm, it is less than the minimum clinically important difference (the smallest change in an outcome measure that is perceived to be clinically important) for the Disabilities of the Arm, Shoulder, and Hand questionnaire score of 15.
The findings outlined above are not necessarily surprising to experienced clinicians who work with patients with congenital upper-extremity differences. Despite obvious significant functional deficits, patients often do well and can lead rich, extraordinary lives. Although there can be many reasons for this observation, one hypothesis is that patients born with these conditions are better able to adapt to their deficits during early life—an advantage not seen in older individuals with acquired hand conditions. This hypothesis advocates for completing functional upper-extremity operations early in childhood to take advantage of brain plasticity and adaptability.
Individuals with Apert syndrome exhibit symphalangism of the digits; thus, their only functional joints are the metacarpophalangeal joints. Traditionally, the fifth digit is considered the “best” digit in patients with Apert syndrome. It is least involved in the syndactyly, and its radiographic appearance tends to be more normal than the others. However, our study shows that average metacarpophalangeal joint motion in the fifth digit in these patients was not significantly (clinically) different than in the other digits. The standard deviations for metacarpophalangeal joint measurements were quite wide. Indeed, several patients had multiple digits with less than 5 degrees of motion at the metacarpophalangeal joint. The surgeon who administered the functional tests observed that most patients had one or two “good” fingers that were used for opposition against the thumb. These fingers had the greatest metacarpophalangeal joint motion and provided the main mode of pinch function.
Metacarpophalangeal joint range of motion decreased with increasing complexity of the syndactyly. Patients with type I hands had better range of motion in all digits than patients with type II hands, and type III patients were the most deficient. Although this observation confirms the finding that increasing initial complexity leads to worse range of motion, there was no difference seen in the other functional measures or the self-reported outcomes. In other words, although those with worse hand involvement may have less range of motion, they do not experience any difference in timed tasks or upper-extremity disability. It is possible that most of the useful function is between the thumb and one (or two) other digit(s); thus, once the syndactylies are released, useful function would be similar among different hand types (the observation outlined in the previous paragraph supports this hypothesis). Regardless, the findings outlined are important when counseling parents of children with Apert syndrome who are concerned about long-term function. That the presence of four (versus five) digits did not appear to influence self-reported outcomes is also worth consideration in more difficult cases.
Observations from the timed Jebsen Hand Function Test tasks indicated significant deficits in stacking of checkers and lifting of large, heavy objects as compared to norms. In Apert syndrome patients, short fingers and the lack of distal digital motion inhibit volumetric grip and limit large object grasp. This is one of the reasons we did not measure grip—because individuals cannot wrap their hands around the dynamometer. Slow performance in stacking checkers is also likely attributable to poor digital motion. Stacking checkers involves careful balancing, which in turn requires proprioceptive feedback of “fast fibers,” which are typically well-represented in the small joints of the hand. Small movements at the metacarpophalangeal joints translate into large movements at the fingertip. Without fine control more distally near the fingertip, careful balancing of small objects can be difficult, which explains these results.
Apert syndrome also affects the craniofacial skeleton and can cause abnormal head shape and midface hypoplasia. Given the social stigma associated with the craniofacial anomalies, it was crucial to provide additional health measures in this study that could help further elucidate health-related quality of life and social integration. The subjects in this study scored more favorably than population norms in both mental and physical health aspects of the 36-Item Short-Form Health Survey. The qualitative interviews further substantiated these results and showed acceptable social/societal integration. All participants had at least completed high school and had been employed; many of them had relationships and participated in social activities such as sports and other group endeavors. Experience and social integration in our series mirrored other studies’ results.6 , 26 , 27 One possible topic for future study would be to assess which of the major manifestations of this condition—craniofacial or extremities—have a greater effect on health-related quality of life, function, and social integration.
A major limitation of this study is the small sample size, which limits the power of statistical tests and generalizability of the results. Apert syndrome is rare, and recruitment efforts from a pediatric facility are limited because most participants are no longer patients. Other limits on generalizability of these data include social support and neurocognitive status. Most adults who were successfully enrolled received assistance in coordination and/or travel from family member(s). Patients with neurocognitive delay could not participate in the study, thus deeming a potentially nontrivial portion of this patient population ineligible, and potentially introducing selection bias. The prevalence of neurocognitive delay in this sampled population of patients is unknown, and we were unable to estimate how many patients may have not been successfully recruited as a result. When counseling parents about long-term upper-extremity function and disability, clinicians should indicate that the outcomes outlined herein were observed in patients with sufficient neurocognitive ability to complete surveys and participate in functional tests.
Another limitation of this study was that patients were treated by different (often multiple) surgeons at different (often multiple) institutions. Although all of them had undergone syndactyly release procedures, a few had undergone additional procedures such as osteotomies and digital lengthening procedures. Lastly, there was no control in terms of the degree of involvement—as even within certain types of syndactyly, there can be great variation in bony and soft-tissue anatomy.6 Nevertheless, to standardize these patients and/or restrict the study population based on certain metrics would severely limit the study population. Furthermore, this study did not aim to assess outcomes of syndactyly release or other procedures in these patients, but rather to provide a snapshot of functional outcomes and disability in an adult cohort of Apert patients who had undergone corrective procedures in the past.
This study offers novel data on long-term functional upper-extremity and health-related quality-of-life outcomes in adults with Apert syndrome. Self-reported health-related quality-of-life outcomes were more favorable than functional measures alone would suggest. The participants in this study showed remarkable social integration and physical and emotional resilience despite significant functional and social impediments. Even though functional measures showed less motion, less strength, and less speed than population norms, these measured deficits did not translate to functional disability as perceived by the patients themselves. Treatment protocols have evolved, and it is possible that future cohorts will display better functional outcomes and appearance and, perhaps, even less disability.
The authors thank the study subjects who participated in the study.
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Dr. David B. Sarwer, Associate Dean for Research, Professor of Social and Behavioral Sciences, Director of the Center for Obesity Research and Education, College of Public Health, Temple University, Philadelphia, Pennsylvania. Over the past several decades, a number of plastic surgery centers around the world have investigated the psychosocial impact of being born with a congenital condition that affects physical functioning and/or appearance. The commonly held belief among laypersons is that children and adolescents who are disfigured suffer greatly with body image dissatisfaction, low self-esteem, depression, and social anxiety. While that is the unfortunate experience for a minority of individuals born with congenital conditions, most studies have suggested that individuals born with conditions that affect their appearance report a wide range of reactions, and importantly, many show few differences from their unaffected peers. The consensus belief among many experts in the field is that individuals born with congenital conditions are at increased risk for psychosocial issues, but these untoward outcomes are not universal.
Far less research has been conducted on the functional and psychosocial outcomes of children born with these conditions who are now adults. There are several reasons for this. First, even among centers that specialize in treating children with craniofacial conditions and related disorders, the rare nature of the conditions results in relatively small clinical populations over time. Second, as these children move through adolescence and early adulthood, many are lost to follow-up. Thus, the ability of investigators to locate them and engage them in clinical research studies is challenged.
The study by Taghinia and colleagues provides important information on the functional and psychosocial status of a sample of 22 young to middle-age adults born with Apert syndrome. Compared to population norms, these individuals, on average, show mild to moderate deficits in hand functioning. However, their self-report of their disability was more positive than seen on those objective measures. Similarly, as assessed by the “gold standard” measure of health-related quality of life (the Short-Form Health Survey-36), the sample had median scores on the physical and mental health composite scales that were more positive than population norms, suggesting higher levels of quality of life.
These findings highlight several important issues. First, as seen in studies of the psychosocial functioning of children and adolescents with craniofacial conditions, there are few differences in the functioning of affected and nonaffected individuals when examined at the group level. On the individual level, however, the psychosocial reaction may be quite different. As is often seen clinically, some children with mild to moderate levels of disfigurement present with significant psychosocial and behavioral issues. In contrast, others with profound disfigurement will often display relatively little psychosocial distress. In recent years, the pediatric psychology literature has increasingly focused on the psychological construct of resiliency as a way to understand how some children and families respond incredibly well to the stress of a severe craniofacial condition or other chronic health issues. Measures of the construct are recommended for future studies of both pediatric and adult craniofacial populations.
Second, relatively few studies in this area have combined both functional and psychosocial measures of outcome. This is a particular strength of this study and is encouraged in future work as well. The results of this investigation also highlight the observation that there is often a disconnect between a patient’s and a provider’s assessment of outcome of a given treatment. Adults with Apert syndrome in the present study self-reported lower levels of disability than anticipated from the functional assessments. This is an important reminder for researchers and clinicians that the patient’s perspective of his or her illness may be more meaningful to the patient that our medical assessment or opinion. This may be an example of resiliency at work—that even in the face of objective measures of functional limitations, individuals find a way to endure through the challenges of daily life but also experience a level of quality of life not all that different from their family and friends.
Finally, results of this study may have implications for the growing field of vascularized composite allotransplantation. As the field continues to develop, there needs to be additional consideration of the level of physical and psychosocial functioning that makes an individual appropriate for a vascularized composite allotransplantation procedure. In cases where an individual has been born without a hand, or has lost one or more hands following traumatic injury or illness, the ability to engage in activities of daily living and secure meaningful employment will likely influence both the patient’s and transplant team’s thoughts about the appropriateness of hand transplantation. Similarly, a patient’s successful use or failure with a prosthetic hand(s) will be an important part of the medical decision-making process. While the present study suggests that, as a group, adults with Apert syndrome are functioning well, it may be that an individual with the syndrome, and who is struggling physically and psychologically, will present for a hand transplant procedure. This will give those who work in the field of vascularized composite allotransplantation additional opportunity to think about the important issues of physical and psychosocial functioning in making a determination about appropriateness for a transplant procedure.
Disclosure: Dr. Sarwer currently has grant funding in the area of bariatric surgery from the National Institute of Diabetes, Digestive, and Kidney Disease (R01-DK-108628-01) as well as the Commonwealth of Pennsylvania (PA CURE). He also is a member of the Board of Directors of the American Board of Plastic Surgery and the Aesthetic Surgery Education and Research Foundation. He has consulting relationships with BARONova, Merz, and Novo Nordisk.©2019American Society of Plastic Surgeons