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Autism spectrum disorders and underlying brain pathology in CHARGE association

  • Maria Johansson (a1), Maria Råstam (a1), Eva Billstedt (a1), Susanna Danielsson (a1), Kerstin Strömland (a2), Marilyn Miller (a3) and Christopher Gillberg (a1)...


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.


Corresponding author

Department of Child and Adolescent Psychiatry, Göteborg University, Kungsgatan 12, SE 411 19 Göteborg, Sweden. E-mail:


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