Understanding the relationship between autism and hypermobility

Precision Medicine Project - Understanding the relationship between autism and hypermobility

Supervisor(s): Dr Catherine Crompton, Dr Pippa Thomson & Mark Taylor (Karolinska Institutet)
Centre/Institute: Centre for Biomedicine, Self, and Society, Usher Institute

Background

Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are connective tissue disorders characterised by pain, joint instability, dislocations, and fatigue. Autism is a complex developmental condition characterized by differences in social interaction, speech and nonverbal communication, and repetitive behaviors.

Epidemiological studies demonstrate an association between autism and hypermobility: autistic people are significantly more likely to be hypermobile compared with non-autistic non-autistic people (31-39% vs 0.6-5%), and hypermobile people are more likely to be autistic (Baeza-Velasco et al., 2025; Simpson et al., 2005). Both autism and hypermobility are complex, lifelong, polygenic, heterogeneous conditions, and their diversity makes it difficult to generalise about their relationship. Both autistic and hypermobile people are likely to have issues relating to sensory processing and autonomic dysregulation, as well as experiencing poorer health outcomes and health inequalities.  Some shared pathways have been suggested, relating to connective tissue and neurological development (Casanova et al., 2020). 

Our recent research with self-report data from the hEDS-START study (n = ~2000; Crompton et al., 2025) has found that autistic participants (~25%) were more likely to experience a range of hypermobility related symptoms, as well as co-existing mental, neurological, and physical health conditions than non-autistic people.

Aims

In this project, we plan to expand on this work by examining potential genetic underpinnings of autism and hypermobility. The project will initially look at genetic variation but may move into metabolomics in future years.

The student will utilise data from existing cohorts that including autism and hypermobility variables, including UK Biobank, The Simons Foundation (SFARI) Searchlight Database, the Growing up in Ireland (GUI) study, the Millenium Cohort Study (MCS), the Avon Longitudinal Study of Parents and Children (ALSPAC), Psychiatric Genomics Consortium Autism Spectrum Disorder working group and the nationwide Swedish registry data. The student will

  1. Conduct a genome wide association study (GWAS) and multivariate genome wide association meta-analysis (GWAMA) and assess genetic correlation to identify genetic variants associated with autism and hypermobility;
  2. Assess the shared heritability of these traits using the Swedish Registry and Swedish Twin Registry data on familial clustering.
  3. Use Mendelian randomization to infer potential causal relationships between genetic variants and these disorders, as well as key proteins;
  4. Conduct a phenome wide association study (PheWAS) to investigate the associations between specific genetic variants and a range of hypermobility, cognitive and neurodevelopmental phenotypes, to examine the potential effect that specific genetic markers have across clinical outcomes;
  5. Work with people with lived experience to develop, for example, a hypermobility questionnaire suitable for autistic people, or materials to support understanding how genetic research can help improve the health of autistic people.

Training outcomes

Students are expected to have a BSc or MSc in a relevant field and an understanding of genetics and statistics.  The student should be interested in health data science, and the genetic epidemiology of health conditions. Training will be provided on:

1. Bioinformatics, genomics, epidemiology, and advanced statistical analyses of large-scale datasets.

2. Working in R, including using and writing analysis pipelines. 

3. Using Linux including for the high performance computer, and data security,

4. Critical evaluation of information, writing papers, and presenting work to academic audiences. 

5. Community engagement and participatory research methods.

References 

  1. Baeza-Velasco, C., Vergne, J., Poli, M., Kalisch, L., & Calati, R. (2025). Autism in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes: A systematic review and prevalence meta-analyses. Autism, 13623613251328059.
  2. Casanova, E. L., Baeza-Velasco, C., Buchanan, C. B., & Casanova, M. F. (2020). The relationship between autism and ehlers-danlos syndromes/hypermobility spectrum disorders. Journal of personalized medicine, 10(4), 260.
  3. Crompton, C.J., Efthimiou, T.N., Dockrell, D., & Berg, K., Health Experiences and Outcomes of Hypermobile Autistic and Non-autistic Adults (2025) Presentation at Autism Europe, Dublin, Ireland. (manuscript in prep)
  4. Simpson MR (2006). Benign joint hypermobility syndrome: Evaluation, diagnosis, and management. Journal of the American Osteopathic Association 106: 531–6.

Apply Now

Click here to Apply Now

  • The deadline for 26/27 applications is Monday 12th January 2026
  • Applicants must apply to a specific project. Please ensure you include details of the project on the Recruitment Form below, which you must submit to the research proposal section of your EUCLID application.
  • Please ensure you upload as many of the requested documents as possible, including a CV, at the time of submitting your EUCLID application.  

Q&A Sessions

Supervisor(s) of each project will be holding a 30 minute Q&A session in the first two weeks of December. 

If you have any questions regarding this project, you are invited to attend the session on TBC via Microsoft Teams. Click here to join the session.

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