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High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry

Propionic Acidemia (PA) is characterized by the accumulation of propionic acid (PPA), its toxic derivatives, and ammonia. The disease causes multiorgan damage, especially in heart, pancreas, and brain; seizures and intellectual disability are often described. Some PA children also show autism spectr...

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Detalles Bibliográficos
Autores principales: Cotrina, Maria L., Ferreiras, Sindy, Schneider, Patricia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012741/
https://www.ncbi.nlm.nih.gov/pubmed/32071841
http://dx.doi.org/10.1002/jmd2.12083
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author Cotrina, Maria L.
Ferreiras, Sindy
Schneider, Patricia
author_facet Cotrina, Maria L.
Ferreiras, Sindy
Schneider, Patricia
author_sort Cotrina, Maria L.
collection PubMed
description Propionic Acidemia (PA) is characterized by the accumulation of propionic acid (PPA), its toxic derivatives, and ammonia. The disease causes multiorgan damage, especially in heart, pancreas, and brain; seizures and intellectual disability are often described. Some PA children also show autism spectrum disorders (ASD). In this study, we have compiled data from 62 individuals from the Propionic Acidemia International Patient Registry and compared it to the published literature on the prevalence of autism in PA. The PA registry shows a significant proportion of ASD diagnoses that is consistent with the combined prevalence reported in the literature. It also shows that ASD in PA is gender balanced and it is diagnosed at older ages (median age 8 years) than in the national registry for autism (median age 4.3 years), which raises the possibility, among others, of PA specific risk factors affecting the natural history of ASD. Data from patient registries provide valuable information on studying the mechanisms involved in a rare disease, although more outreach effort must be done to increase participation and consistency in data entry.
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spelling pubmed-70127412020-02-18 High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry Cotrina, Maria L. Ferreiras, Sindy Schneider, Patricia JIMD Rep Research Reports Propionic Acidemia (PA) is characterized by the accumulation of propionic acid (PPA), its toxic derivatives, and ammonia. The disease causes multiorgan damage, especially in heart, pancreas, and brain; seizures and intellectual disability are often described. Some PA children also show autism spectrum disorders (ASD). In this study, we have compiled data from 62 individuals from the Propionic Acidemia International Patient Registry and compared it to the published literature on the prevalence of autism in PA. The PA registry shows a significant proportion of ASD diagnoses that is consistent with the combined prevalence reported in the literature. It also shows that ASD in PA is gender balanced and it is diagnosed at older ages (median age 8 years) than in the national registry for autism (median age 4.3 years), which raises the possibility, among others, of PA specific risk factors affecting the natural history of ASD. Data from patient registries provide valuable information on studying the mechanisms involved in a rare disease, although more outreach effort must be done to increase participation and consistency in data entry. John Wiley & Sons, Inc. 2019-12-10 /pmc/articles/PMC7012741/ /pubmed/32071841 http://dx.doi.org/10.1002/jmd2.12083 Text en © 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Reports
Cotrina, Maria L.
Ferreiras, Sindy
Schneider, Patricia
High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry
title High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry
title_full High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry
title_fullStr High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry
title_full_unstemmed High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry
title_short High prevalence of self‐reported autism spectrum disorder in the Propionic Acidemia Registry
title_sort high prevalence of self‐reported autism spectrum disorder in the propionic acidemia registry
topic Research Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012741/
https://www.ncbi.nlm.nih.gov/pubmed/32071841
http://dx.doi.org/10.1002/jmd2.12083
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