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Autism spectrum disorders and underlying brain pathology in CHARGE association

✍ Scribed by Maria Johansson; Maria Råstam; Eva Billstedt; Susanna Danielsson; Kerstin Strömland; Marilyn Miller; Christopher Gillberg


Book ID
104454325
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
124 KB
Volume
48
Category
Article
ISSN
0012-1622

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✦ Synopsis


The rate of autism spectrum disorders (ASDs) and brain abnormalities was analyzed in 31 individuals (15 males, 16 females; age range 1mo to 31y, mean age 8y 11mo) with CHARGE association, as part of a multidisciplinary study. A meticulous neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Judgement regarding ASDs was impossible in three infants and three patients who were deaf and blind. Five individuals met diagnostic criteria for autism, five for an autistic‐like condition, and seven for autistic traits. Brain abnormalities were indicated in almost three‐quarters of examined individuals, and midline abnormalities of the forebrain in one‐third. Awareness of the coexistence of CHARGE and ASDs is important in habilitation care in CHARGE. Moreover, the results indicate that a subgroup of ASDs may be associated with errors in early embryonic brain development.


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## Abstract The autism spectrum disorders (ASDs) are complex diseases with a strong genetic component. Numerous candidate gene studies have tested association between various functional and positional candidate genes and autism, but no common variation predisposing for autism has been identified to