title: 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.
authors.affiliation: Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
authors.forename: Annette C
authors.initials: AC
authors.lastname: Da Costa
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
authors.forename: Jacquie A
authors.initials: JA
authors.lastname: Wrennall
authors.forename: Izabela
authors.initials: I
authors.lastname: Walters
authors.forename: Nicole
authors.initials: N
authors.lastname: Gardiner
authors.forename: Alan
authors.initials: A
authors.lastname: Tucker
authors.forename: Vicki
authors.initials: V
authors.lastname: Anderson
authors.forename: John G
authors.initials: JG
authors.lastname: Meara
mesh_terms: D000168:Acrocephalosyndactylia / Q000150:complications* / Q000235:genetics; D000293:Adolescent; D003062:Codon; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009483:Neuropsychological Tests; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D012720:Severity of Illness Index
chemical_list: D003062:Codon; D017931:DNA Primers; D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2