Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Asperger's syndrome and aminoaciduria: a case example.

S W Miles1, P Capelle

  • 1Department of Psychiatry, Auckland Hospital, New Zealand.

The British Journal of Psychiatry : the Journal of Mental Science
|March 1, 1987
PubMed
Summary

This study presents a case of Asperger's syndrome with behavioral disturbances and an aminoaciduria metabolic disorder. The findings suggest a potential link between this metabolic issue and neurological impairment in the patient and his family.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

[Appendiceal mucoceles, pseudomyxoma peritonei and appendiceal mucinous neoplasms: update on the contribution of imaging to choice of surgical approach].

Journal de chirurgie·2009
Same author

How to convince your manager to invest in an HIS preimplementation methodology for appraisal of material, process and human costs and benefits.

Proceedings. AMIA Symposium·2000
Same author

[Acute respiratory distress revealing Mediterranean spotted fever].

Presse medicale (Paris, France : 1983)·2000
Same author

Diagnosis and follow-up of Whipple's disease by amplification of the 16S rRNA gene of Tropheryma whippelii.

European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology·1999
Same author

Eating attitudes.

The New Zealand medical journal·1985
Same author

Eating attitudes in an adolescent schoolgirl population.

The New Zealand medical journal·1985

Area of Science:

  • Neurodevelopmental disorders
  • Metabolic disorders
  • Genetics

Background:

  • Autism spectrum disorder (ASD) encompasses a range of neurodevelopmental conditions.
  • Asperger's syndrome, a subtype of ASD, is characterized by social interaction difficulties and restricted interests.
  • Behavioral disturbances can be associated with neurodevelopmental disorders and may have underlying biological factors.

Observation:

  • A case study of an 18-year-old male initially diagnosed with infantile autism, but presenting with characteristics aligning with Asperger's syndrome.
  • The patient exhibits impairments in higher cerebral functioning and enduring behavioral disturbances, a pattern also observed in several male family members.
  • Biochemical analysis revealed an aminoaciduria (abnormal amino acid excretion) in both the patient and his father.

Related Experiment Videos

Findings:

  • The co-occurrence of Asperger's syndrome, behavioral disturbances, and aminoaciduria in the patient and his father suggests a potential shared etiology.
  • The identified aminoaciduria represents a metabolic disturbance that may be linked to the observed neurological and behavioral symptoms.
  • Sporadic hyperlysinaemia is discussed as one potential mechanism connecting the metabolic and neurological/behavioral disturbances.

Implications:

  • This case highlights the importance of considering metabolic investigations in individuals with neurodevelopmental and behavioral disorders, especially when a family history is present.
  • Understanding the interplay between metabolic pathways and brain function can offer new insights into the pathophysiology of Asperger's syndrome and related conditions.
  • Further research into aminoacidurias and their neurological consequences may reveal novel diagnostic markers or therapeutic targets for neurodevelopmental disorders.