We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?
- Authors
Schiff, Manuel; Benoist, Jean-François; Aïssaoui, Sofiane; Boespflug-Tanguy, Odile; Mouren, Marie-Christine; de Baulny, Hélène Ogier; Delorme, Richard
- Abstract
In the investigation of autism spectrum disorders (ASD), a genetic cause is found in approximately 10-20%. Among these cases, the prevalence of the rare inherited metabolic disorders (IMD) is unknown and poorly evaluated. An IMD responsible for ASD is usually identified by the associated clinical phenotype such as dysmorphic features, ataxia, microcephaly, epilepsy, and severe intellectual disability (ID). In rare cases, however, ASD may be considered as nonsyndromic at the onset of a related IMD.
- Publication
PloS one, 2011, Vol 6, Issue 7, pe21932
- ISSN
1932-6203
- Publication type
Journal Article
- DOI
10.1371/journal.pone.0021932