[article] 
inJournal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.2124-2131

Titre :	Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders
Type de document :	Texte imprimé et/ou numérique
Auteurs :	M. E. MÁRQUEZ-CARAVEO, Auteur ; I. IBARRA-GONZÁLEZ, Auteur ; R. RODRÍGUEZ-VALENTÍN, Auteur ; Miguel Ángel RAMÍREZ-GARCÍA, Auteur ; V. PÉREZ-BARRÓN, Auteur ; E. LAZCANO-PONCE, Auteur ; M. VELA-AMIEVA, Auteur
Article en page(s) :	p.2124-2131
Langues :	Anglais (eng)
Mots-clés :	Adolescent  Autism Spectrum Disorder/complications  Child  Delayed Diagnosis/statistics & numerical data  Female  Humans  Male  Metabolism, Inborn Errors/diagnosis/epidemiology/psychology  Mexico/epidemiology  Neurodevelopmental Disorders/complications  Tandem Mass Spectrometry/methods  Autism spectrum disorders  Inborn errors of metabolism  Intellectual disabilities  Metabolic screening  Neurodevelopmental disorders
Index. décimale :	PER Périodiques
Résumé :	The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect treatable IEM of small molecules. One patient with isovaleric acidemia and autism spectrum disorder (ASD) and another with beta-ketothiolase deficiency and ASD/intellectual disability/attention-deficit/hyperactivity disorder (ADHD) were diagnosed, indicating an IEM frequency of 3.9% (1:26 subjects). The high frequency of treatable IEM indicates the need to perform a minimum metabolic screening as part of the diagnostic approach for patient with NDD, particularly when newborn screening programs are limited to a few disorders.
En ligne :	http://dx.doi.org/10.1007/s10803-020-04682-2
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452

[article] Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders [Texte imprimé et/ou numérique] / M. E. MÁRQUEZ-CARAVEO, Auteur ; I. IBARRA-GONZÁLEZ, Auteur ; R. RODRÍGUEZ-VALENTÍN, Auteur ; Miguel Ángel RAMÍREZ-GARCÍA, Auteur ; V. PÉREZ-BARRÓN, Auteur ; E. LAZCANO-PONCE, Auteur ; M. VELA-AMIEVA, Auteur . - p.2124-2131.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.2124-2131

Mots-clés :	Adolescent  Autism Spectrum Disorder/complications  Child  Delayed Diagnosis/statistics & numerical data  Female  Humans  Male  Metabolism, Inborn Errors/diagnosis/epidemiology/psychology  Mexico/epidemiology  Neurodevelopmental Disorders/complications  Tandem Mass Spectrometry/methods  Autism spectrum disorders  Inborn errors of metabolism  Intellectual disabilities  Metabolic screening  Neurodevelopmental disorders
Index. décimale :	PER Périodiques
Résumé :	The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect treatable IEM of small molecules. One patient with isovaleric acidemia and autism spectrum disorder (ASD) and another with beta-ketothiolase deficiency and ASD/intellectual disability/attention-deficit/hyperactivity disorder (ADHD) were diagnosed, indicating an IEM frequency of 3.9% (1:26 subjects). The high frequency of treatable IEM indicates the need to perform a minimum metabolic screening as part of the diagnostic approach for patient with NDD, particularly when newborn screening programs are limited to a few disorders.
En ligne :	http://dx.doi.org/10.1007/s10803-020-04682-2
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452