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Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum

Johansson, Maria ; Billstedt, Eva ; Danielsson, Susanna ; Strömland, Kerstin ; Miller, Marilyn ; Granström, Gösta ; Flodmark, Olof ; Råstam, Maria LU orcid and Gillberg, Christopher (2007) In Developmental Medicine & Child Neurology 49(4). p.8-280
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... (More)
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. (Less)
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@article{f57b6d86-137f-4152-a08f-7c114de2cf3e,
  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.}},
  author       = {{Johansson, Maria and Billstedt, Eva and Danielsson, Susanna and Strömland, Kerstin and Miller, Marilyn and Granström, Gösta and Flodmark, Olof and Råstam, Maria and Gillberg, Christopher}},
  issn         = {{0012-1622}},
  keywords     = {{AdolescentAutistic Disorder/diagnosisAutistic Disorder/physiopathology*Autistic Disorder/rehabilitationBrain/abnormalities*Brain/pathologyBrain/physiopathologyChildChild; PreschoolDiagnostic and Statistical Manual of Mental DisordersElectroencephalographyFemaleGoldenhar Syndrome/diagnosisGoldenhar Syndrome/physiopathology*Goldenhar Syndrome/rehabilitationHumansInfantInfant; NewbornMagnetic Resonance ImagingMaleMental Retardation/diagnosisMental Retardation/physiopathologyNeuropsychological TestsPatient Care TeamPregnancyProspective StudiesRisk FactorsTomography; X-Ray Computed}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{8--280}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Developmental Medicine & Child Neurology}},
  title        = {{Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum}},
  url          = {{http://dx.doi.org/10.1111/j.1469-8749.2007.00280.x}},
  doi          = {{10.1111/j.1469-8749.2007.00280.x}},
  volume       = {{49}},
  year         = {{2007}},
}