Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system

Author:

Maximino Luciana Paula1,Ducati Luis Gustavo2,Abramides Dagma Venturini Marques3,Corrêa Camila de Castro2,Garcia Patrícia Fernandes3,Fernandes Adriano Yacubian4

Affiliation:

1. Universidade de São Paulo, Brasil; Universidade de São Paulo, Brasil

2. Universidade Estadual Paulista, Brasil

3. Universidade de São Paulo, Brasil

4. Universidade de São Paulo, Brasil; Universidade Estadual Paulista, Brasil

Abstract

ABSTRACT Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. Methods: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests. Results: Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients. Conclusion: Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

Publisher

FapUNIFESP (SciELO)

Subject

Neurology,Neurology (clinical)

Reference35 articles.

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2. Craniosynostosis genetics: the mystery unfolds;Panigrahi I.;Indian J Hum Genet,2011

3. Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene;Mantilla-Capacho JM;Genet Couns,2005

4. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome;Glaser RL;Am J Hum Genet,2000

5. Brain and ventricular volume in patients with syndromic and complex craniosynostosis;Jong T;Childs Nerv Syst,2012

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