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Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum.

Journal article
Authors Maria E I Johansson
Eva Billstedt
Susanna Danielsson
Kerstin Strömland
Marilyn Miller
Gösta Granström
Olof Flodmark
Maria Råstam
Christopher Gillberg
Published in Developmental Medicine and Child Neurology
Volume 49
Issue 4
Pages 280-288
ISSN 0012-1622
Publication year 2007
Published at Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
Institute of Clinical Sciences, Department of Otorhinolaryngology
Institute of Clinical Sciences, Department of Pediatrics
Institute of Clinical Sciences
Pages 280-288
Language en
Keywords Adolescent, Autistic Disorder, Diagnosis, Physiopathology, Rehabilitation, Brain, Abnormalities, Pathology, Physiopathology, Child, Child, Preschool, Diagnostic and Statistical Manual of Mental Disorders, Electroencephalography, Female, Goldenhar Syndrome, Diagnosis, Physiopathology, Rehabilitation, Humans, Infant, Infant, Newborn, Magnetic Resonance Imaging, Male, Mental Retardation, Diagnosis, Physiopathology, Neuropsychological Tests, Patient Care Team, Pregnancy, Prospective Studies, Risk Factors, Tomography, X-Ray Computed
Subject categories Psychiatry


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.

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