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High prevalence of self-reported autism spectrum disorder in the Propionic Acidemia Registry
Maria L Cotrina1, Sindy Ferreiras2, Patricia Schneider2
1Propionic Acidemia Foundation (PAF) Highland Park Illinois.
Insights
Propionic Acidemia (PA), a metabolic disorder, shows a notable prevalence of autism spectrum disorders (ASD). ASD in PA patients is diagnosed later and is gender-balanced, suggesting unique disease-related risk factors.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Propionic Acidemia (PA) involves toxic propionic acid buildup, causing multi-organ damage, including neurological effects.
- Autism Spectrum Disorders (ASD) are observed in some children with Propionic Acidemia, indicating a potential link.
Purpose of the Study:
- To investigate the prevalence and characteristics of ASD in individuals with Propionic Acidemia.
- To compare ASD diagnosis age and gender distribution in PA patients with general autism populations.
Main Methods:
- Data compilation from 62 individuals in the Propionic Acidemia International Patient Registry.
- Comparison of registry data with published literature on autism prevalence in PA.
Main Results:
- A significant proportion of PA patients in the registry have ASD diagnoses, consistent with literature findings.
- ASD in PA patients is gender-balanced and diagnosed at a later median age (8 years) compared to the national autism registry (4.3 years).
Conclusions:
- The findings suggest potential PA-specific risk factors influencing ASD development and presentation.
- Patient registries are valuable for rare disease research, but increased participation and data consistency are needed.
Abstract:
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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