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Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome? / Lv WANG in Autism Research, 3-5 (October 2010)
[article]
Titre : Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome? Type de document : Texte imprimé et/ou numérique Auteurs : Lv WANG, Auteur ; Manya T. ANGLEY, Auteur ; Michael J. SORICH, Auteur ; Robyn L. YOUNG, Auteur ; Ross A. MCKINNON, Auteur ; Jacobus P. GERBER, Auteur Année de publication : 2010 Article en page(s) : p.268-272 Langues : Anglais (eng) Mots-clés : autism spectrum disorder (ASD) creatine deficiency syndrome (CDS) creatine (CR) guanidinoacetate (GAA) liquid chromatography tandem mass spectrometry (LC-MS/MS) diagnostic biomarkers Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that presents in the first three years of life. Currently, diagnosis of ASD is based on its behavioural manifestations, as laboratory diagnostic tests do not exist. Creatine deficiency syndrome (CDS) is one form of inborn error of metabolism where affected individuals have similar clinical features to individuals with ASD. Abnormal urinary creatine (CR) and guanidinoacetate (GAA) levels have been reported as biomarkers of CDS. We hypothesized that screening for abnormal levels of urinary CR and GAA in children with ASD may assist in identifying a subgroup of ASD individuals who can be managed with dietary interventions. Morning urine samples were collected from children with and without autism and analyzed for CR and GAA levels. Results showed there was no statistically significant difference in urinary CR:creatinine and GAA:creatinine between the children with ASD and sibling or unrelated controls. In conclusion, routine screening for abnormal urinary CR and GAA could be considered in ASD diagnostic protocols; however, individuals positive for CDS are likely to be rare in an ASD cohort. En ligne : http://dx.doi.org/10.1002/aur.145 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115
in Autism Research > 3-5 (October 2010) . - p.268-272[article] Is there a role for routinely screening children with autism spectrum disorder for creatine deficiency syndrome? [Texte imprimé et/ou numérique] / Lv WANG, Auteur ; Manya T. ANGLEY, Auteur ; Michael J. SORICH, Auteur ; Robyn L. YOUNG, Auteur ; Ross A. MCKINNON, Auteur ; Jacobus P. GERBER, Auteur . - 2010 . - p.268-272.
Langues : Anglais (eng)
in Autism Research > 3-5 (October 2010) . - p.268-272
Mots-clés : autism spectrum disorder (ASD) creatine deficiency syndrome (CDS) creatine (CR) guanidinoacetate (GAA) liquid chromatography tandem mass spectrometry (LC-MS/MS) diagnostic biomarkers Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that presents in the first three years of life. Currently, diagnosis of ASD is based on its behavioural manifestations, as laboratory diagnostic tests do not exist. Creatine deficiency syndrome (CDS) is one form of inborn error of metabolism where affected individuals have similar clinical features to individuals with ASD. Abnormal urinary creatine (CR) and guanidinoacetate (GAA) levels have been reported as biomarkers of CDS. We hypothesized that screening for abnormal levels of urinary CR and GAA in children with ASD may assist in identifying a subgroup of ASD individuals who can be managed with dietary interventions. Morning urine samples were collected from children with and without autism and analyzed for CR and GAA levels. Results showed there was no statistically significant difference in urinary CR:creatinine and GAA:creatinine between the children with ASD and sibling or unrelated controls. In conclusion, routine screening for abnormal urinary CR and GAA could be considered in ASD diagnostic protocols; however, individuals positive for CDS are likely to be rare in an ASD cohort. En ligne : http://dx.doi.org/10.1002/aur.145 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=115