Apert syndrome: evaluation of a treatment algorithm.

Area of Science:

• Genetics
• Pediatric Surgery
• Developmental Pediatrics

Background:

• Apert syndrome presents significant phenotypic variability.
• Surgical interventions aim to mitigate developmental delays and reduce operative burden.
• Understanding correlations between phenotype, treatment, and outcomes is crucial for optimizing care paradigms.

Purpose of the Study:

• To catalog phenotypic variability in Apert syndrome.
• To review surgical outcomes and their relation to treatment goals.
• To examine correlations for improved treatment strategies.

Main Methods:

• A 20-year case series review of 135 Apert syndrome patients.
• Inclusion of phenotypic variations, genetic mutations, developmental assessments, and surgical treatments.
• Analysis of treatment timing and correlations with developmental outcomes.

Main Results:

• Common mutations include S252W and P253R; varied hand, palate, and skull anomalies were observed.
• Early cranial/midfacial procedures were performed at outside centers.
• Adverse development correlated with shunts, tracheostomies, and multiple surgeries; early treatment from birth showed better outcomes.

Conclusions:

• Preventing developmental delays from raised intracranial pressure and sleep apnea is a primary goal.
• Reducing operative interventions may improve developmental trajectories.
• Comprehensive, early-center care from birth is associated with higher developmental attainment.