Indian Journal of Human Genetics
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CASE REPORT
Year : 2010  |  Volume : 16  |  Issue : 1  |  Page : 36-38

Autism and X-linked hypophosphatemia: A possible association?


University Centre Child and Adolescent Psychiatry (UCKJA), ZNA Middelheim Antwerp, University of Antwerp, CAPRI, Belgium

Correspondence Address:
Vermeersch Joel
(UCKJA) ZNA Middelheim, Lindendreef 1, B-2020 Antwerp
Belgium
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DOI: 10.4103/0971-6866.64937

PMID: 20838491

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We herein report the joint occurrence of an autistic disorder (AD) and X-linked hypophosphatemia. X-linked hypophosphatemia (XLH), an X-linked dominant disorder, is the most common of the inherited renal phosphate wasting disorders. Autism is a pervasive developmental disorder that occurs mainly due to genetic causes. In approximately 6-15% of cases, the autistic phenotype is a part of a broader genetic condition called syndromic autism. Therefore, reports of cases with the joint occurrence of a known genetic syndrome and a diagnosis of ASD by a child psychiatrist are relevant. A joint occurrence does not, however, mean that there is always a causal link between the genetic syndrome and the autistic behavioural phenotype. In this case, there are a number of arguments countering a causal link.


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