title: Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
abstract: Apert and Crouzon are the most common craniosynostosis syndromes associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. We conducted a study to examine the molecular biology, brain abnormalities, and cognitive development of individuals with these syndromes. A retrospective longitudinal review of 14 patients with Apert and Crouzon syndromes seen at the outpatient Craniofacial Surgery Hospital for Rehabilitation of Craniofacial Anomalies in Brazil from January 1999 through August 2010 was performed. Patients between 11 and 36 years of age (mean 18.29 ± 5.80), received cognitive evaluations, cerebral magnetic resonance imaging, and molecular DNA analyses. Eight patients with Apert syndrome (AS) had full scale intelligence quotients (FSIQs) that ranged from 47 to 108 (mean 76.9 ± 20.2), and structural brain abnormalities were identified in five of eight patients. Six patients presented with a gain-of-function mutation (p.Ser252Trp) in FGFR2 and FSIQs in those patients ranged from 47 to78 (mean 67.2 ± 10.7). One patient with a gain-of-function mutation (p.Pro253Arg) had a FSIQ of 108 and another patient with an atypical splice mutation (940-2A →G) had a FSIQ of 104. Six patients with Crouzon syndrome had with mutations in exons IIIa and IIIc of FGFR2 and their FSIQs ranged from 82 to 102 (mean 93.5 ± 6.7). These reveal that molecular aspects are another factor that can be considered in studies of global and cognitive development of patients with Apert and Crouzon syndrome (CS). © 2016 Wiley Periodicals, Inc.
authors.affiliation: Hospital de Reabilitação de Anomalias Craniofaciais, USP, Bauru, SP, Brazil.
authors.forename: Marilyse B L
authors.initials: MB
authors.lastname: Fernandes
authors.affiliation: Departamento de Fonoaudiologia, FOB-USP, Bauru, SP, Brazil.
authors.forename: Luciana P
authors.initials: LP
authors.lastname: Maximino
authors.affiliation: Departamento de Neurologia, Psicologia e Psiquiatria, UNESP, Botucatu, SP, Brazil.
authors.forename: Gimol B
authors.initials: GB
authors.lastname: Perosa
authors.affiliation: Departamento de Fonoaudiologia, FOB-USP, Bauru, SP, Brazil.
authors.forename: Dagma V M
authors.initials: DV
authors.lastname: Abramides
authors.affiliation: Instituto de Biociências, USP, São Paulo, SP, Brazil.
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
authors.affiliation: Departamento de Fonoaudiologia, FOB-USP, Bauru, SP, Brazil.|Departamento de Neurologia, Psicologia e Psiquiatria, UNESP, Botucatu, SP, Brazil.
authors.forename: Adriano
authors.initials: A
authors.lastname: Yacubian-Fernandes
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D001921:Brain / Q000002:abnormalities*; D002648:Child; D003071:Cognition; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010641:Phenotype; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D051497:Receptor, Fibroblast Growth Factor, Type 2
keywords: central nervous system; intellectual functioning; molecular biology; syndromic craniosynostosis