Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

<h4>Background</h4>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 identifie...

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Autores principales:	Manuel Schiff, Jean-François Benoist, Sofiane Aïssaoui, Odile Boespflug-Tanguy, Marie-Christine Mouren, Hélène Ogier de Baulny, Richard Delorme
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2011
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/1611c12f2bfa4000b6c5823b18e6e055
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spelling	oai:doaj.org-article:1611c12f2bfa4000b6c5823b18e6e0552021-11-18T06:50:37ZShould metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?1932-620310.1371/journal.pone.0021932https://doaj.org/article/1611c12f2bfa4000b6c5823b18e6e0552011-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21760924/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>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.<h4>Objectives</h4>To evaluate the utility of routine metabolic investigations in nonsyndromic ASD.<h4>Patients and methods</h4>We retrospectively analyzed the results of a metabolic workup (urinary mucopolysaccharides, urinary purines and pyrimidines, urinary creatine and guanidinoacetate, urinary organic acids, plasma and urinary amino acids) routinely performed in 274 nonsyndromic ASD children.<h4>Results</h4>The metabolic parameters were in the normal range for all but 2 patients: one with unspecific creatine urinary excretion and the other with persistent 3-methylglutaconic aciduria.<h4>Conclusions</h4>These data provide the largest ever reported cohort of ASD patients for whom a systematic metabolic workup has been performed; they suggest that such a routine metabolic screening does not contribute to the causative diagnosis of nonsyndromic ASD. They also emphasize that the prevalence of screened IMD in nonsyndromic ASD is probably not higher than in the general population (<0.5%). A careful clinical evaluation is probably more reasonable and of better medical practice than a costly systematic workup.Manuel SchiffJean-François BenoistSofiane AïssaouiOdile Boespflug-TanguyMarie-Christine MourenHélène Ogier de BaulnyRichard DelormePublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 6, Iss 7, p e21932 (2011)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Manuel Schiff Jean-François Benoist Sofiane Aïssaoui Odile Boespflug-Tanguy Marie-Christine Mouren Hélène Ogier de Baulny Richard Delorme Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?
description	<h4>Background</h4>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.<h4>Objectives</h4>To evaluate the utility of routine metabolic investigations in nonsyndromic ASD.<h4>Patients and methods</h4>We retrospectively analyzed the results of a metabolic workup (urinary mucopolysaccharides, urinary purines and pyrimidines, urinary creatine and guanidinoacetate, urinary organic acids, plasma and urinary amino acids) routinely performed in 274 nonsyndromic ASD children.<h4>Results</h4>The metabolic parameters were in the normal range for all but 2 patients: one with unspecific creatine urinary excretion and the other with persistent 3-methylglutaconic aciduria.<h4>Conclusions</h4>These data provide the largest ever reported cohort of ASD patients for whom a systematic metabolic workup has been performed; they suggest that such a routine metabolic screening does not contribute to the causative diagnosis of nonsyndromic ASD. They also emphasize that the prevalence of screened IMD in nonsyndromic ASD is probably not higher than in the general population (<0.5%). A careful clinical evaluation is probably more reasonable and of better medical practice than a costly systematic workup.
format	article
author	Manuel Schiff Jean-François Benoist Sofiane Aïssaoui Odile Boespflug-Tanguy Marie-Christine Mouren Hélène Ogier de Baulny Richard Delorme
author_facet	Manuel Schiff Jean-François Benoist Sofiane Aïssaoui Odile Boespflug-Tanguy Marie-Christine Mouren Hélène Ogier de Baulny Richard Delorme
author_sort	Manuel Schiff
title	Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?
title_short	Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?
title_full	Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?
title_fullStr	Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?
title_full_unstemmed	Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?
title_sort	should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?
publisher	Public Library of Science (PLoS)
publishDate	2011
url	https://doaj.org/article/1611c12f2bfa4000b6c5823b18e6e055
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Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?

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