Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome.
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.
Division of Child Neurology and Psychiatry, Department of Pediatrics, University of Catania, Via S. Sofia 78, Catania, Italy. gigimazzone@yahoo.it
Luigi
L
Mazzone
Lia
L
Vassena
Liliana
L
Ruta
Diego
D
Mugno
Ornella
O
Galesi
Marco
M
Fichera
D001321:Autistic Disorder / Q000150:complications* / Q000523:psychology; D059327:Brachydactyly / Q000150:complications* / Q000523:psychology; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications* / Q000523:psychology; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications* / Q000523:psychology; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000523:psychology; D008297:Male