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Ataxia, autism, and the cerebellum: a clinical study of 32 individuals with congenital ataxia

Published online by Cambridge University Press:  18 February 2005

Ingegerd Åhsgren
Affiliation:
Department of Child and Adolescent Neurology and Habilitation, Norrliden, Sundsvall Hospital, Sundsvall, Sweden.
Ingela Baldwin
Affiliation:
Department of Child and Adolescent Neurology and Habilitation, Norrliden, Sundsvall Hospital, Sundsvall, Sweden.
Christina Goetzinger-Falk
Affiliation:
Department of Child and Adolescent Neurology and Habilitation, Norrliden, Sundsvall Hospital, Sundsvall, Sweden.
Anders Erikson
Affiliation:
Department of Paediatrics, Umeå University Hospital, Umeå, Sweden.
Olof Flodmark
Affiliation:
Department of Neuroradiology, Karolinska Hospital, Stockholm, Sweden.
Christopher Gillberg
Affiliation:
Department of Child and Adolescent Psychiatry, Göteborg University, Göteborg, Sweden.
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Abstract

The suggested link between autism and cerebellar dysfunction formed the background for a Swedish clinical study in 2001. Thirty-two children (17 females, 15 males; mean age 12y, SD 3y 10mo; range 6 to 21y) with a clinical suspicion of non-progressive congenital ataxia were examined, and parents were interviewed about the presence of neuropsychiatric problems in the child. Twelve children had simple ataxia, eight had ataxic diplegia, and 12 had ‘borderline’ ataxia. All but one of the 32 children had a mild to moderate gross motor disability according to Gross Motor Function Classification System (15 were categorized as level I, 16 as level II, and one child as level IV). Neuroimaging and neuropsychological testing were achieved in most cases. There was a strong association between learning disability and autism spectrum disorder (often combined with hyperactivity disorder) on the one hand, and both simple and borderline ‘ataxia’ on the other, but a weaker link between ataxic diplegia and neuropsychiatric disorders. A correlation between cerebellar macropathology on neuroimaging and neuropsychiatric disorders was not supported. Congenital ataxia might not be a clear-cut syndrome of cerebellar disease, but one of many signs of prenatal events or syndromes, leading to a complex neurodevelopmental disorder including autism and learning disability.

Type
Original Articles
Copyright
© 2005 Mac Keith Press

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