Screening for Metabolic Diseases in Autism Spectrum Disorders
Author Information
Author(s): Manuel Schiff, Jean-François Benoist, Sofiane Aïssaoui, Odile Boepsflug-Tanguy, Marie-Christine Mouren, Hélène Ogier de Baulny, Richard Delorme
Primary Institution: APHP, Reference Center for Inherited Metabolic Disease, Hôpital Robert Debré, Paris, France
Hypothesis
Does routine metabolic screening provide useful information for nonsyndromic autism spectrum disorder (ASD) patients?
Conclusion
Routine metabolic screening does not significantly contribute to the diagnosis of nonsyndromic ASD and may not be more effective than careful clinical evaluation.
Supporting Evidence
- Only 2 out of 274 patients showed abnormal metabolic parameters.
- The prevalence of screened inherited metabolic disorders in nonsyndromic ASD is likely not higher than in the general population.
- A careful clinical evaluation is recommended over routine metabolic screening.
Takeaway
The study looked at children with autism and found that testing for metabolic diseases didn't help much, so doctors might not need to do those tests all the time.
Methodology
Retrospective analysis of metabolic workup results in 274 nonsyndromic ASD children.
Limitations
The study's retrospective design and the limited sample size may affect the findings.
Participant Demographics
Children aged 2 to 17 years, with a majority being male (88%).
Digital Object Identifier (DOI)
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