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Autism spectrum disorders in propionic acidemia patients
Caroline Dejean de la Bâtie1, Valérie Barbier2, Célina Roda2
1Service de Pédopsychiatrie, Hôpital Necker-Enfants Malades, Université Paris Descartes, APHP, 149 rue de Sèvres, 75015, Paris, France.
Journal of Inherited Metabolic Disease
|September 1, 2017
Summary
Propionic acidemia, a metabolic disorder, is frequently associated with autism spectrum disorder (ASD) and related symptoms. Early psychiatric screening is crucial for affected children and young adults.
Area of Science:
- Neuroscience
- Metabolic Disorders
- Psychiatry
Background:
- Propionic acidemia results from propionyl-CoA carboxylase deficiency.
- Chronic neurological and cognitive issues are common, but psychiatric aspects are understudied.
- Autism spectrum disorder (ASD) prevalence in propionic acidemia requires further investigation.
Purpose of the Study:
- To evaluate the psychiatric manifestations in children and young adults with propionic acidemia.
- To determine the frequency of autism spectrum disorder and related phenotypes in this population.
- To explore potential correlations between disease severity and psychiatric outcomes.
Main Methods:
- Pedopsychiatric evaluations were conducted on 19 patients aged 2-25 years.
- Diagnostic tools included ADI-R, CARS-T, and ADOS for suspected ASD.
- Previous psychometric data and 3-hydroxypropionate levels were analyzed.
Main Results:
- Autism spectrum disorder or broader autism phenotype (BAP) was observed in 9 out of 19 patients.
- Five patients exhibited symptoms indicative of BAP, and four had severe anxiety.
- Two patients experienced acute psychotic episodes; lower early decompensation was noted in ASD/BAP patients.
Conclusions:
- Autism spectrum disorder is a frequent comorbidity in propionic acidemia.
- In-depth psychiatric evaluations and ASD screening are recommended for patients with propionic acidemia.
- Further research is needed to elucidate the mechanisms linking propionic acidemia and ASD.
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