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Related Experiment Videos

Mitochondrial dysfunction in autism spectrum disorders: a population-based study.

G Oliveira1, L Diogo, M Grazina

  • 1Outpatient Clinic of Autism, Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra, 3000-076 Coimbra, Portugal. guiomar@hpc.chc.min-saude.pt

Developmental Medicine and Child Neurology
|March 3, 2005
PubMed
Summary

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Mitochondrial disorders may be a common organic condition associated with autism. This study found hyperlactacidemia in 20% of children with autism, with 7.2% having definite mitochondrial respiratory chain disorders.

Area of Science:

  • Neurodevelopmental Disorders
  • Metabolic Disorders

Background:

  • Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with diverse presentations.
  • A subset of ASD cases is linked to identifiable organic conditions, including metabolic disturbances.
  • Bioenergetic metabolism deficiencies represent one such area of investigation in ASD.

Purpose of the Study:

  • To investigate the prevalence of associated medical conditions in children diagnosed with autism.
  • To specifically examine the occurrence of metabolic abnormalities, such as hyperlactacidemia and mitochondrial disorders, in this population.

Main Methods:

  • A population-based study involving 120 children diagnosed with autism (age range 11y 5mo–14y 4mo).
  • Diagnosis confirmed using DSM criteria, ADI-R, and CARS; cognitive function assessed with Griffiths and WISC.

Related Experiment Videos

  • Plasma lactate levels measured in 69 children; mitochondrial respiratory chain disorder assessed in 11 patients.

    • Main Results:

    • Epilepsy was present in 19% of the children.
    • Hyperlactacidemia was identified in 14 out of 69 children (20.3%).
    • Five of 11 patients (45.5%) studied had a definite mitochondrial respiratory chain disorder, translating to 7.2% of the total screened group (5 of 69).

    Conclusions:

    • Mitochondrial respiratory chain disorders may be a significant, underrecognized organic condition associated with autism.
    • The findings suggest that metabolic screening, particularly for mitochondrial dysfunction, warrants further investigation in children with autism.
    • Hyperlactacidemia is a potential indicator for underlying metabolic issues in the autism population.