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Are Urinary Porphyrins a Valid Diagnostic Biomarker of Autism Spectrum Disorder? / Kerrie SHANDLEY in Autism Research, 7-5 (October 2014)
[article]
Titre : Are Urinary Porphyrins a Valid Diagnostic Biomarker of Autism Spectrum Disorder? Type de document : Texte imprimé et/ou numérique Auteurs : Kerrie SHANDLEY, Auteur ; David W. AUSTIN, Auteur ; Jahar L. BHOWMIK, Auteur Article en page(s) : p.535-542 Langues : Anglais (eng) Mots-clés : porphyrins biomarker ASD diagnosis ASD severity heavy metals mercury Index. décimale : PER Périodiques Résumé : A fundamental challenge to the timely diagnosis of Autism Spectrum Disorder (ASD) is the reliance on the observation of a set of aberrant behavior. Consequently, the diagnostic process requires that the child reach an age where the behaviors would typically be exhibited. The identification of a reliable biological marker (biomarker) could be of considerable benefit to the diagnostic process. As a diagnostic biomarker, porphyrins present an attractive prospect as previous studies have reported consistent findings of children with ASD showing significant elevations in porphyrin levels in contrast to controls. Furthermore, there is some evidence that ASD severity may be associated with porphyrins, which would be a valuable characteristic of any ASD biomarker. Importantly, for practical use, porphyrins can be tested non-invasively via a sample of urine. The present study sought to investigate whether porphyrin profiles can reliably be used to (a) differentiate ASD cases from healthy controls; and (b) predict ASD severity. The study compared the porphyrin levels of three groups of children aged 2–6 years: Group 1—children diagnosed with ASD (n?=?70); Group 2—healthy, normally developing siblings of children diagnosed with ASD (n?=?36); and Group 3—healthy, normally developing children with no known blood relative diagnosed with ASD (n?=?54). The results of logistic regression analyses failed to find support for the hypotheses that porphyrin levels could be used as a valid tool to detect ASD cases or predict severity. Autism Res 2014, 7: 535–542. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1385 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241
in Autism Research > 7-5 (October 2014) . - p.535-542[article] Are Urinary Porphyrins a Valid Diagnostic Biomarker of Autism Spectrum Disorder? [Texte imprimé et/ou numérique] / Kerrie SHANDLEY, Auteur ; David W. AUSTIN, Auteur ; Jahar L. BHOWMIK, Auteur . - p.535-542.
Langues : Anglais (eng)
in Autism Research > 7-5 (October 2014) . - p.535-542
Mots-clés : porphyrins biomarker ASD diagnosis ASD severity heavy metals mercury Index. décimale : PER Périodiques Résumé : A fundamental challenge to the timely diagnosis of Autism Spectrum Disorder (ASD) is the reliance on the observation of a set of aberrant behavior. Consequently, the diagnostic process requires that the child reach an age where the behaviors would typically be exhibited. The identification of a reliable biological marker (biomarker) could be of considerable benefit to the diagnostic process. As a diagnostic biomarker, porphyrins present an attractive prospect as previous studies have reported consistent findings of children with ASD showing significant elevations in porphyrin levels in contrast to controls. Furthermore, there is some evidence that ASD severity may be associated with porphyrins, which would be a valuable characteristic of any ASD biomarker. Importantly, for practical use, porphyrins can be tested non-invasively via a sample of urine. The present study sought to investigate whether porphyrin profiles can reliably be used to (a) differentiate ASD cases from healthy controls; and (b) predict ASD severity. The study compared the porphyrin levels of three groups of children aged 2–6 years: Group 1—children diagnosed with ASD (n?=?70); Group 2—healthy, normally developing siblings of children diagnosed with ASD (n?=?36); and Group 3—healthy, normally developing children with no known blood relative diagnosed with ASD (n?=?54). The results of logistic regression analyses failed to find support for the hypotheses that porphyrin levels could be used as a valid tool to detect ASD cases or predict severity. Autism Res 2014, 7: 535–542. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1385 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=241 Disordered Porphyrin Metabolism: A Potential Biological Marker for Autism Risk Assessment / Nicholas J. HEYER in Autism Research, 5-2 (April 2012)
[article]
Titre : Disordered Porphyrin Metabolism: A Potential Biological Marker for Autism Risk Assessment Type de document : Texte imprimé et/ou numérique Auteurs : Nicholas J. HEYER, Auteur ; Diana ECHEVERRIA, Auteur ; James S WOODS, Auteur Année de publication : 2012 Article en page(s) : p.84-92 Langues : Anglais (eng) Mots-clés : autistic spectrum disorder biomarker children heme porphyrins Index. décimale : PER Périodiques Résumé : Autism (AUT) is a complex neurodevelopmental disorder that, together with Asperger's syndrome and Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), comprises the expanded classification of autistic spectrum disorder (ASD). The heterogeneity of ASD underlies the need to identify biomarkers or clinical features that can be employed to identify meaningful subtypes of ASD, define specific etiologies, and inform intervention and treatment options. Previous studies have shown that disordered porphyrin metabolism, manifested principally as significantly elevated urinary concentrations of pentacarboxyl (penta) and coproporphyrins, is commonly observed among some children with ASD. Here, we extend these observations by specifically evaluating penta and coproporphyrins as biological indicators of ASD among 76 male children comprising 30 with validated AUT, 14 with PDD-NOS, and 32 neurotypical (NT) controls. ASD children (AUT and PDD-NOS) had higher mean urinary penta (P < 0.006) and copro (P < 0.006) concentrations compared with same-aged NT children, each characterized by a number of extreme values. Using Receiver Operating Characteristic curve analysis, we evaluated the sensitivity and specificity of penta, copro, and their combined Z-scores in ASD detection. The penta sensitivity was 30% for AUT and 36% for PDD-NOS, with 94% specificity. The copro sensitivity was 33% and 14%, respectively, with 94% specificity. The combined Z-score measure had 33% and 21% sensitivity for AUT and PDD-NOS, respectively, with 100% specificity. These findings demonstrate that porphyrin measures are strong predictors of both AUT and PDD-NOS, and support the potential clinical utility of urinary porphyrin measures for identifying a subgroup of ASD subjects in whom disordered porphyrin metabolism may be a salient characteristic. En ligne : http://dx.doi.org/10.1002/aur.236 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155
in Autism Research > 5-2 (April 2012) . - p.84-92[article] Disordered Porphyrin Metabolism: A Potential Biological Marker for Autism Risk Assessment [Texte imprimé et/ou numérique] / Nicholas J. HEYER, Auteur ; Diana ECHEVERRIA, Auteur ; James S WOODS, Auteur . - 2012 . - p.84-92.
Langues : Anglais (eng)
in Autism Research > 5-2 (April 2012) . - p.84-92
Mots-clés : autistic spectrum disorder biomarker children heme porphyrins Index. décimale : PER Périodiques Résumé : Autism (AUT) is a complex neurodevelopmental disorder that, together with Asperger's syndrome and Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS), comprises the expanded classification of autistic spectrum disorder (ASD). The heterogeneity of ASD underlies the need to identify biomarkers or clinical features that can be employed to identify meaningful subtypes of ASD, define specific etiologies, and inform intervention and treatment options. Previous studies have shown that disordered porphyrin metabolism, manifested principally as significantly elevated urinary concentrations of pentacarboxyl (penta) and coproporphyrins, is commonly observed among some children with ASD. Here, we extend these observations by specifically evaluating penta and coproporphyrins as biological indicators of ASD among 76 male children comprising 30 with validated AUT, 14 with PDD-NOS, and 32 neurotypical (NT) controls. ASD children (AUT and PDD-NOS) had higher mean urinary penta (P < 0.006) and copro (P < 0.006) concentrations compared with same-aged NT children, each characterized by a number of extreme values. Using Receiver Operating Characteristic curve analysis, we evaluated the sensitivity and specificity of penta, copro, and their combined Z-scores in ASD detection. The penta sensitivity was 30% for AUT and 36% for PDD-NOS, with 94% specificity. The copro sensitivity was 33% and 14%, respectively, with 94% specificity. The combined Z-score measure had 33% and 21% sensitivity for AUT and PDD-NOS, respectively, with 100% specificity. These findings demonstrate that porphyrin measures are strong predictors of both AUT and PDD-NOS, and support the potential clinical utility of urinary porphyrin measures for identifying a subgroup of ASD subjects in whom disordered porphyrin metabolism may be a salient characteristic. En ligne : http://dx.doi.org/10.1002/aur.236 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155