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Related Experiment Video

Updated: Feb 8, 2026

Fragility Assessment of Bovine Cortical Bone Using Scratch Tests
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Autism and heritable bone fragility: A true association?

Meena Balasubramanian1,2,3, Rebecca Jones4, Elizabeth Milne5

  • 1Highly Specialised Severe, Complex & Atypical OI Service, Sheffield Children's NHS Foundation Trust, UK.

Bone Reports
|June 30, 2018
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Summary

This study explored genetic links between Osteogenesis Imperfecta (OI) and Autism Spectrum Disorder (ASD) in children. Genetic analyses revealed pathogenic variants in genes like COL1A1/COL1A2, NBAS, NRX1, and PLS3, suggesting a potential genetic connection.

Keywords:
AutismAutism assessmentsBone fragilityGenomic studiesOsteogenesis imperfecta

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Area of Science:

  • Genetics and Developmental Pediatrics
  • Autism Spectrum Disorder (ASD) research
  • Osteogenesis Imperfecta (OI) research

Background:

  • Osteogenesis Imperfecta (OI), characterized by bone fragility, typically presents with normal intelligence.
  • A subset of children with severe OI exhibit traits consistent with Autism Spectrum Disorder (ASD).
  • Early identification of developmental delay and autistic traits in OI patients is crucial for optimal care and educational provision.

Purpose of the Study:

  • To investigate potential genetic links between bone fragility in Osteogenesis Imperfecta (OI) and Autism Spectrum Disorder (ASD).
  • To identify patients with co-occurring severe/complex OI and autistic traits using standardized diagnostic tools.
  • To perform genetic analyses on a cohort of children with confirmed ASD and OI.

Main Methods:

  • Recruited a cohort of 7 children with severe/complex OI and autistic traits.
  • Utilized gold-standard diagnostic tools: Autism Diagnostic Inventory-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS).
  • Conducted trio whole exome sequencing (WES) on patients meeting ASD diagnostic criteria.

Main Results:

  • Identified pathogenic variants in genes associated with OI, including COL1A1/COL1A2, in most patients.
  • Detected specific variants in NBAS, NRX1, and PLS3 in individual patients.
  • Confirmed a genetic component in a subset of OI patients with ASD.

Conclusions:

  • Diagnosing ASD in children with OI has significant clinical and social benefits, improving access to services and support.
  • Understanding the dual diagnosis of OI and ASD is essential for comprehensive clinical and educational planning.
  • Further genomic investigations are warranted to explore the relationship between bone fragility and autism.