title: Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum.
abstract: As part of a multidisciplinary study, the rate of autism spectrum disorder (ASD), learning disability (LD), and brain abnormalities was examined in 20 participants (12 males, 8 females; age range 8mo-17y, mean age 8y 1mo) diagnosed as falling within the oculoauriculovertebral spectrum (OAV). A neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Two individuals met diagnostic criteria for autism, one for autistic-like condition, and five for autistic traits. Four patients had mild LD, three severe LD, two profound LD, and two borderline intellectual functioning. Neuroimaging indicated cerebral abnormalities in more than half of the patients. Abnormalities of white/grey matter were found in more than half of examined individuals; enlargement of ventricles in more than a third. Results indicate that at least a subgroup of ASD may be associated with errors in early embryonic brain development. Awareness of the coexistence of OAV/ASD is important in habilitation care of individuals with OAV.
authors: Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg, Sweden. maria.johansson@pediat.gu.se
authors: Maria
authors: M
authors: Johansson
authors: Eva
authors: E
authors: Billstedt
authors: Susanna
authors: S
authors: Danielsson
authors: Kerstin
authors: K
authors: Strömland
authors: Marilyn
authors: M
authors: Miller
authors: Gösta
authors: G
authors: Granström
authors: Olof
authors: O
authors: Flodmark
authors: Maria
authors: M
authors: Råstam
authors: Christopher
authors: C
authors: Gillberg
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000175:diagnosis / Q000503:physiopathology* / Q000534:rehabilitation; D001921:Brain / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D039721:Diagnostic and Statistical Manual of Mental Disorders; D004569:Electroencephalography; D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis / Q000503:physiopathology* / Q000534:rehabilitation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009483:Neuropsychological Tests; D010348:Patient Care Team; D011247:Pregnancy; D011446:Prospective Studies; D012307:Risk Factors; D014057:Tomography, X-Ray Computed