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Apert Syndrome: Evaluation of a Treatment Algorithm
Jeffrey A. Fearon, MD, Cindy Podner, RNFA.
The Craniofacial Center, Dallas, Dallas, TX, USA.
Purpose: Apert syndrome is uncommonly encountered, even at large craniofacial centers. Aside from two reported surgical series (9 and 24 patients, respectively), there is little published literature. This study was designed to assess outcomes of an evolving treatment paradigm focused on: 1. Improving developmental outcomes (including frequent assessments for raised intracranial pressure and sleep apnea with: polysomnography, MRI, VEP’s, optic nerve examinations, etc.), and 2. Reducing the total number of operative interventions (delaying surgery when safely possible and combining procedures).
Methods: Case series review of all Apert patients treated by a single surgeon. Phenotypic variations, genetic testing, developmental assessments, surgical treatments were assessed. A chi-squared test was used to test the differences between distributions of findings, Fisher’s Exact test for small cell counts, continuous variables were tested using the t-test, with the Pooled Method used for equal variances and a Satterthwaite approximation for unequal variances.
Results: Over a 20-year period, 135 Apert patients were treated (32% since birth, 68% underwent prior surgical interventions elsewhere). With a mean follow up of 9.5 years, 22 patients underwent as many as 16-46 operations (70% began treatment elsewhere). Cranial vaults and mid facial advancements were performed much earlier at outside institutions (6.2 vs. 12.6 months, and 5.3 vs. 7.5 years; P<0.001, P=0.003). Two patients (1.5%) died at home, temporally unrelated to surgery. Gene testing revealed an equal distribution of mutations (S252W:P253R, 20:18). Of 268 hands: 60% were Type I, 21% Type II, and 19% Type III (hand type did not correlate with development). Only 50% had normal palates: 26.5% had cleft uvulae and 23.5% had soft palatal clefts. Three separate types of skull configuration were identified, and intracranial anomalies included: 29% acquired Chiari malformations, 12% corpus callosal anomalies, and 24% septum pellucidum anomalies. Developmental delays were stratified: A (32%) normal to slight delay, B (43%) moderate delay, C (22%) severe delay. No significant correlations were noted between development and: specific gene mutation, presence of intracranial anomalies, skull phenotype, and timing of initial skull surgery (<12 months vs. >12 months). A statistically negative correlation was found between development and the presence of shunts and tracheostomies (P = 0.01, P = 0.03). A significantly positive correlation was noted between development and treatment from birth at our center (P<0.0001).
Conclusions: Acquired Chiari malformations and palatal clefting appear more common in children with Apert syndrome than previously recognized. Traditional treatment is notable for an extremely high total number of operations. Initial cranial vault enlargements and mid facial advancements were both performed at a significantly earlier age at outside institutions. Unlike previous reports, we found no positive correlation between development and performing skull surgery prior to 12-months of age; however, our surgical timing varied with skull phenotype (a potential selection bias). With our use of development as a metric, our treatment paradigm has evolved towards a focus on avoiding preventable development delays, and decreasing total operations. A significantly positive correlation was found between development and treatment from birth at our center, a possible reflection of our treatment model.
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