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Minor physical anomalies in neurodevelopmental disorders: a twin study

Lynnea Myers1, Britt-Marie Anderlid2,3, Ann Nordgren2,3

  • 1Department of Women's and Children's Health, Center of Neurodevelopmental Disorders (KIND), Karolinska Institutet & Center for Psychiatry Research, Stockholm County Council, Stockholm, Sweden.

Child and Adolescent Psychiatry and Mental Health
|December 7, 2017
PubMed
Abstract

Insights

Minor physical anomalies (MPAs) are more common in individuals with autism spectrum disorder (ASD). These subtle physical differences may help identify those at higher risk for ASD.

Area of Science:

  • Developmental biology
  • Genetics
  • Clinical psychology

Background:

  • Minor physical anomalies (MPAs) are subtle anatomical variations linked to altered embryogenesis.
  • MPAs are more prevalent in neurodevelopmental disorders (NDDs) than in typical development.
  • Further research on MPAs in NDDs, particularly twin studies, is needed to control for familial factors.

Purpose of the Study:

  • To investigate the association between MPAs and NDDs, including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD).
  • To examine the relationship between the number of MPAs and zygosity within twin pairs.
  • To identify specific MPAs associated with ASD.

Main Methods:

  • Clinical assessments of 116 twins (61 NDD, 55 controls) from 51 monozygotic and 7 dizygotic pairs.
  • Statistical analysis to determine the association between MPAs and NDD diagnoses and traits.
  • Investigation of intrapair correlations of MPAs based on zygosity.

Main Results:

  • A significant association was found between MPAs and ASD diagnosis and autistic traits.
  • MPAs were not significantly associated with NDDs in general or ADHD.
  • Specific MPAs in ASD included overweight, hypermobility, pes planus, straight eyebrows, vision impairment, arachnodactyly/long toes, long eyelashes, and microtia.
  • A high correlation in the number of MPAs was observed within monozygotic twin pairs.

Conclusions:

  • MPAs are more frequent in individuals with ASD, suggesting a potential genetic influence.
  • MPAs may serve as indicators for early detection of ASD.
  • Further exploration of MPAs' utility in identifying individuals at increased risk for ASD is warranted.
Keywords:
ADHDASDAutismMinor physical anomaliesNeurodevelopmental disorders

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