Brachidactyly-Mental Retardation (BDMR) Syndrome (MIM 600430) is associated with terminal deletions at chromosome 2q37 and a limited number of studies also reported an association between 2q37 → qter deletion and autism. Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive, behavioral, and disease natural history homologies, with a very prominent social impairment in the first 4 years of life. At follow-up evaluations, spanning a 5-years period, both children experienced a progressive reduction of the autistic symptoms, besides retaining compromised cognitive ability. This report supports the hypothesis that genes in the 2q37 region may contribute to the etiology of autism, leading, however, to a peculiar evolution of the disease, with symptoms severity decreasing over time.

Mazzone, L., Vassena, L., Ruta, L., Mugno, D., Galesi, O., & Fichera, M. (2012). Brief report: Peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome. JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 42(10), 2202-2207 [10.1007/s10803-011-1432-5].

Brief report: Peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome

Mazzone L.
;
2012

Abstract

Brachidactyly-Mental Retardation (BDMR) Syndrome (MIM 600430) is associated with terminal deletions at chromosome 2q37 and a limited number of studies also reported an association between 2q37 → qter deletion and autism. Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive, behavioral, and disease natural history homologies, with a very prominent social impairment in the first 4 years of life. At follow-up evaluations, spanning a 5-years period, both children experienced a progressive reduction of the autistic symptoms, besides retaining compromised cognitive ability. This report supports the hypothesis that genes in the 2q37 region may contribute to the etiology of autism, leading, however, to a peculiar evolution of the disease, with symptoms severity decreasing over time.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/39 - Neuropsichiatria Infantile
English
Con Impact Factor ISI
Autistic Disorder; Brachydactyly; Child, Preschool; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 2; Female; Fibrous Dysplasia, Polyostotic; Humans; Intellectual Disability; Male
Mazzone, L., Vassena, L., Ruta, L., Mugno, D., Galesi, O., & Fichera, M. (2012). Brief report: Peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome. JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 42(10), 2202-2207 [10.1007/s10803-011-1432-5].
Mazzone, L; Vassena, L; Ruta, L; Mugno, D; Galesi, O; Fichera, M
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/194089
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