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Related Experiment Video

Updated: Jun 8, 2025

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Motor phenotypes associated with genetic neurodevelopmental disorders.

Alexandra Santana Almansa1,2, LeeAnne Green Snyder3, Wendy K Chung4

  • 1Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.

Annals of Clinical and Translational Neurology
|November 2, 2024
PubMed
Summary

Genetic neurodevelopmental disorders (NDDs) often involve motor impairments. This study characterized motor phenotypes in 959 patients with 57 genetic NDDs, revealing a spectrum of challenges including delayed milestones and tone abnormalities.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Monogenic disorders are increasingly linked to neurodevelopmental disorders (NDDs), such as autism spectrum disorder and intellectual disability.
  • Motor impairments are common in genetic NDDs but are not well-defined.
  • Characterizing motor phenotypes is crucial for understanding and managing these conditions.

Purpose of the Study:

  • To investigate and characterize the motor phenotype in individuals with genetic neurodevelopmental disorders.
  • To identify specific motor deficits associated with various genetic conditions causing NDDs.

Main Methods:

  • Analysis of data from Simons Searchlight, including 959 patients across 57 genetic disorders.
  • Utilized Vineland Adaptive Behavior Scales Second Edition (Vineland-II) motor standard scores.
  • Examined motor milestones (sitting, walking) and tone abnormalities (hypotonia, hypertonia, cerebral palsy).

Main Results:

  • Significant motor impairment (Vineland-II <56) observed in GRIN2B, HNRNPH2, and SCN2A-related disorders.
  • Delayed unsupported sitting (≥18 months) noted in GRIN1-related disorder (mean 26.3 months).
  • Delayed independent walking (≥36 months) observed in CTNNB1 (37.4 months) and HNRNPH2 (41.9 months) disorders. Hypotonia (83%) and hypertonia (16%) were prevalent, with 10% diagnosed with cerebral palsy.

Conclusions:

  • Genetic neurodevelopmental disorders present a wide spectrum of motor impairments.
  • Further detailed characterization of these motor phenotypes is warranted.
  • Identifying specific motor deficits can aid in targeted interventions for affected individuals.