title: [Fragile X syndrome with Dandy-Walker variant: a clinical study of oral and written communicative manifestations].
abstract: The Fragile X syndrome is the most frequent cause of inherited intellectual disability. The Dandy-Walker variant is a specific constellation of neuroradiological findings. The present study reports oral and written communication findings in a 15-year-old boy with clinical and molecular diagnosis of Fragile X syndrome and neuroimaging findings consistent with Dandy-Walker variant. The speech-language pathology and audiology evaluation was carried out using the Communicative Behavior Observation, the Phonology assessment of the ABFW - Child Language Test, the Phonological Abilities Profile, the Test of School Performance, and the Illinois Test of Psycholinguistic Abilities. Stomatognathic system and hearing assessments were also performed. It was observed: phonological, semantic, pragmatic and morphosyntactic deficits in oral language; deficits in psycholinguistic abilities (auditory reception, verbal expression, combination of sounds, auditory and visual sequential memory, auditory closure, auditory and visual association); and morphological and functional alterations in the stomatognathic system. Difficulties in decoding the graphical symbols were observed in reading. In writing, the subject presented omissions, agglutinations and multiple representations with the predominant use of vowels, besides difficulties in visuo-spatial organization. In mathematics, in spite of the numeric recognition, the participant didn't accomplish arithmetic operations. No alterations were observed in the peripheral hearing evaluation. The constellation of behavioral, cognitive, linguistic and perceptual symptoms described for Fragile X syndrome, in addition to the structural central nervous alterations observed in the Dandy-Walker variant, caused outstanding interferences in the development of communicative abilities, in reading and writing learning, and in the individual's social integration.
authors.affiliation: Departamento de Fonoaudiologia da Faculdade de Odontologia de Bauru, Universidade de São Paulo – USP – Bauru (SP), Brasil. dionelam@uol.com.br
authors.forename: Dionísia Aparecida Cusin
authors.initials: DA
authors.lastname: Lamônica
authors.forename: Plínio Marcos Duarte Pinto
authors.initials: PM
authors.lastname: Ferraz
authors.forename: Amanda Tragueta
authors.initials: AT
authors.lastname: Ferreira
authors.forename: Lívia Maria do
authors.initials: LM
authors.lastname: Prado
authors.forename: Dagma Venturini Marquez
authors.initials: DV
authors.lastname: Abramides
authors.forename: Mariana Germano
authors.initials: MG
authors.lastname: Gejão
mesh_terms: D000293:Adolescent; D003616:Dandy-Walker Syndrome / Q000150:complications / Q000503:physiopathology*; D005600:Fragile X Syndrome / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D007806:Language Disorders / Q000175:diagnosis*; D007859:Learning Disabilities / Q000175:diagnosis*; D008297:Male; D013066:Speech-Language Pathology