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[Autism and metabolic disorders-a rational approach]
Andreas Hahn1, Bernd A Neubauer
1Abteilung Neuropädiatrie und Sozialpädiatrie, Zentrum Kinderheilkunde, Justus-Liebig-Universität, Giessen. Andreas.Hahn@paediat.med.uni-giessen.de
Zeitschrift Fur Kinder- Und Jugendpsychiatrie Und Psychotherapie
|November 22, 2005
Summary
Rare genetic neurometabolic disorders are linked to autism symptoms. This overview clarifies diagnostic procedures and therapeutic strategies for these specific conditions, distinguishing them from unconfirmed theories.
Area of Science:
- Genetics
- Neurology
- Metabolism
Context:
- Autism's heterogeneous causes are primarily genetic, with definitive etiologies identified in under 10% of cases.
- Confusion exists regarding autism diagnosis and therapy due to low success rates in identifying pathology and unverified claims of cures.
- Numerous reports suggest associations between autism and metabolic derangements, necessitating clarification.
Purpose:
- To provide an overview of rare, genetically determined neurometabolic disorders associated with autism-specific symptoms.
- To discuss diagnostic procedures and therapeutic consequences for identified metabolic defects.
- To critically evaluate hypotheses linking autism to metabolic derangements, including confirmed and falsified associations.
Summary:
- Focuses on rare, genetically determined neurometabolic disorders (inborn errors of metabolism) linked to autism, such as Smith-Lemli-Opitz Syndrome and succinate semialdehyde dehydrogenase deficiency.
- Highlights that affected individuals often present with additional neurological symptoms.
- Details diagnostic approaches and outlines therapeutic strategies based on specific metabolic defects, while also addressing unconfirmed or disproven metabolic associations.
Impact:
- Aims to reduce confusion surrounding diagnostic procedures and rational therapies for individuals with autism.
- Offers clarity on specific, treatable neurometabolic conditions that may present with autism-specific symptoms.
- Provides a scientific basis for understanding the role of specific metabolic disorders in autism spectrum disorder.
Related Concept Videos
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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:21Overview of Protein Metabolism
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Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
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Participant Modeling
Participant modeling involves therapists demonstrating calm and effective behaviors in situations...
Participant Modeling
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01:29Theoretical Approaches to Psychological Disorder
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Biological approach
The biological approach posits that internal, organic factors are the primary causes of such disorders. This perspective emphasizes brain structure and function, genetic predispositions, and neurotransmitter imbalances. For example, schizophrenia has been associated with both genetic...
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01:29Intellectual Disability
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