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Behavioural phenotype syndromes and autisms

Participants: Maria Johansson, Christopher Gillberg & Maria Råstam.

Background: Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and oculoauriulovertebral spectrum (OAV) are three behavioural phenotype conditions (BPCs) with multiple congenital dysfunctions such as cranial nerve palsies, visual and hearing deficits, learning disability (LD) and behavioural disturbances, suggested to be associated with early embryonic brain stem injuries. Individuals with autistic symptoms had been described in case reports in all three BPCs before the present studies. The studies examined the prevalence of autism syndromes and associated factors/conditions in Möbius, CHARGE and OAV, hypothesising that a subgroup of autism syndromes may be associated with first trimester brain stem damage. Diagnostic difficulties in individuals with multiple dysfunctions such as in these conditions were also analysed.

Method: As part of multidisciplinary surveys of Möbius (n=25), CHARGE (n=31) and OAV (n=20) the occurrence of autistic symptoms were scrutinised utilising the DSM-III-R and DSM-IV checklists for autistic disorder, the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC). LD was evaluated by standardised IQ-tests or the Vineland Adaptive Behaviour Scales. Results from previously performed radiological imaging/laboratory tests were analysed.

Results: There was a high rate of autism syndromes in all BPCs (Möbius 48%, CHARGE 68%, OAV 42%) as well as of LD (Möbius 32%, CHARGE 72%, OAV 25%). In Möbius syndrome there was a high degree of specificity for classic autism, not seen in the same way in the other two BPCs. Cranial nerve dysfunction was present in all individuals with Möbius, in 55% with CHARGE, and in 60% with OAV. Autism syndromes, LD and cerebral abnormalities tended to occur in the same individuals. The diagnostics of autism syndromes presented difficulties, notably due to sensory impairments, cranial nerve palsies and LD, and increased with the number and severity of disabilities.


Johansson, M., Gillberg, C., & Råstam, M. (2010). Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects. Research in Developmental Disabilities, 31, 9-24.

Johansson, M., Billstedt, E., Danielsson, S., Strömland, K., Miller, M., Granström, G., … Gillberg, C. (2007). Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum. Developmental Medicine and Child Neurology, 49, 280-288.

Johansson, M., Råstam, M., Billstedt, E., Danielsson, S., Strömland, K., Miller, M., & Gillberg, C. (2006). Autism spectrum disorders and underlying brain pathology in CHARGE association. Developmental Medicine and Child Neurology, 48, 40-50.

Johansson, M., Wentz, E., Fernell, E., Strömland, K., Miller, M.T., & Gillberg, C. (2001). Autism spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals. Developmental Medicine and Child Neurology, 43, 338-345.


Page Manager: Anna Spyrou|Last update: 1/30/2013

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