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

Journal article
Authors Ingegerd Ahsgren
Ingela Baldwin
Christina Goetzinger-Falk
Anders Erikson
Olof Flodmark
Christopher Gillberg
Published in Developmental Medicine and Child Neurology
Volume 47
Issue 3
Pages 193-198
ISSN 0012-1622
Publication year 2005
Published at Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
Pages 193-198
Language en
Keywords Adolescent, Adult, Attention Deficit Disorder with Hyperactivity, Diagnosis, Physiopathology, Cerebellar Ataxia, Congenital, Diagnosis, Physiopathology, Cerebellum, Pathology, Physiopathology, Child, Comorbidity, Female, Humans, Learning Disorders, Diagnosis, Physiopathology, Magnetic Resonance Imaging, Male, Neurologic Examination, Neuropsychological Tests, Paraplegia, Congenital, Diagnosis, Psychomotor Disorders, Congenital, Diagnosis, Statistics as Topic, Sweden, Tomography, X-Ray Computed
Subject categories Psychiatry


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.

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