Should autistic children be evaluated for mitochondrial disorders?
Tally Lerman-Sagie1, Esther Leshinsky-Silver, Nathan Watemberg
1Mitochondrial Disease Clinic, Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel. asagie@post.tau.ac.il
Abstract:
Autism is etiologically heterogeneous; medical conditions are implicated in only a minority of cases, whereas metabolic disorders are even less common. Recently, there have been articles describing the association of autism with mitochondrial abnormalities. We critically review the current literature and conclude that mitochondrial disorders are probably a rare and insignificant cause of pure autism; however, evidence is accumulating that both autosomal recessive and maternally inherited mitochondrial disorders can present with autistic features. Most patients will present with multisystem abnormalities associated with autistic behavior. Finding biochemical or structural mitochondrial abnormalities in an autistic child does not necessarily imply a primary mitochondrial disorder but can also be secondary to technical inaccuracies or another genetic disorder. Clinicians should be careful in diagnosing a mitochondrial disorder in an autistic child because it has important implications for accurate genetic counseling, prognosis, and therapy.
Insights
Mitochondrial disorders are rarely the primary cause of autism spectrum disorder (ASD). However, some mitochondrial conditions can present with autistic features, often alongside other medical issues.
Area of Science:
- Neurodevelopmental disorders
- Genetics
- Mitochondrial biology
Background:
- Autism spectrum disorder (ASD) is etiologically diverse, with medical and metabolic conditions being rare causes.
- Recent literature suggests a potential association between autism and mitochondrial abnormalities.
- Understanding the role of mitochondria in ASD is crucial for diagnosis and management.
Purpose of the Study:
- To critically review the current literature on the association between mitochondrial disorders and autism spectrum disorder.
- To evaluate the evidence for mitochondrial dysfunction as a cause or contributing factor in autism.
- To provide guidance for clinicians regarding the diagnosis and implications of mitochondrial disorders in autistic children.
Main Methods:
- Systematic literature review of studies investigating mitochondrial abnormalities in individuals with autism.
- Critical analysis of evidence linking primary mitochondrial disorders to autistic features.
- Evaluation of diagnostic criteria and potential confounding factors.
Main Results:
- Primary mitochondrial disorders are likely a rare and insignificant cause of pure autism.
- Evidence suggests that both autosomal recessive and maternally inherited mitochondrial disorders can manifest with autistic features, often as part of multisystem abnormalities.
- Mitochondrial abnormalities in autistic children may be secondary to other genetic disorders or technical issues, not necessarily indicating a primary mitochondrial disease.
Conclusions:
- While primary mitochondrial disorders are uncommon causes of autism, they should be considered when autistic features are present, especially with multisystem involvement.
- Careful diagnosis is essential, as identifying a mitochondrial disorder has significant implications for genetic counseling, prognosis, and therapeutic strategies.
- Distinguishing primary mitochondrial disorders from secondary findings is critical for accurate clinical management of autism spectrum disorder.
