Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles.

Abstract:

:Apert syndrome is characterized by craniosynostosis, central nervous system anomalies, midface hypoplasia, and syndactyly. Current research has focused on genetic and neurologic correlates. Cognitive assessment has been primarily limited to global intellectual evaluations, which can fail to detect the diverse cognitive attributes of these children at an individual level. This report describes in detail the neuropsychological profiles of 2 children with Apert syndrome, incorporating clinical, radiographic, molecular and surgical data. One child showed intellectual deficits consistent with a moderate intellectual disability. The second child, while of normal intelligence, displayed neuropsychological deficits associated with anterior-brain-region cognitive functions. These data highlight the diversity of neuropsychological outcomes in Apert syndrome in the same genetic mutation and underline the importance of detailed neuropsychological evaluations as integral to the management protocols of affected individuals.

journal_name

Ann Plast Surg

authors

Da Costa AC,Savarirayan R,Wrennall JA,Walters I,Gardiner N,Tucker A,Anderson V,Meara JG

doi

10.1097/01.sap.0000149387.95212.df

subject

Has Abstract

pub_date

2005-04-01 00:00:00

pages

450-5

issue

4

eissn

0148-7043

issn

1536-3708

pii

00000637-200504000-00022

journal_volume

54

pub_type

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