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Video Imaging and Spatiotemporal Maps to Analyze Gastrointestinal Motility in Mice

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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.

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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.