Abstract
Autism spectrum disorder (ASD) and generalised joint hypermobility (GJH) share a number of clinical manifestations including proprioceptive impairment, motor difficulties, sensory hypersensitivity, and autonomic dysfunction. Clinical observations suggest that GJH is overrepresented in ASD. However, there are currently few systematic studies available. Knowledge about comorbidities may unfold common aetiopathological pathways underlying the association and improve the clinical management. The aim of this large, cross-sectional comparative study is to evaluate the relationship between ASD and GJH in adults. Data on joint hypermobility, symptoms associated with both hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS), lifetime psychiatric diagnoses, psychiatric rating scales for ASD and attention deficit hyperactivity disorder (ADHD), and socio-demographics was collected for 199 individuals with ASD and 419 non-ASD community controls. Logistic regression models adjusting for covariates (age, sex, ethnicity) revealed a significant relationship between ASD and GJH and between ASD and symptomatic GJH, with adjusted odds ratios of 3.1 (95% CI: 1.9, 5.2; p < 0.001) and 4.9 (95% CI: 2.6, 9.0; p < 0.001), respectively. However, the high prevalence of comorbid ADHD in the study sample reduces the generalizability of the results among individuals with ASD without comorbid ADHD. Possibly, an additional ADHD phenotype is the primary driver of the association between ASD and GJH. Furthermore, GJH with additional self-reported symptoms, suggestive of HSD/hEDS, showed a stronger association with ASD than did non-specified GJH, indicating that symptomatic GJH plays a greater role in the relationship than non-specified GJH does. Therefore, the current study underscores the need of careful sample subclassifications. ASD with GJH may represent a novel subgroup of ASD in terms of aetiopathology and clinical presentation. Future research should elucidate the aetiological factors behind the association between ASD and GJH and evaluate how the comorbidity of GJH affects ASD outcomes.
Highlights
Autism Spectrum Disorder (ASD) is comprised of a group of conditions characterised by persistent difficulties in social interaction and communication, as well as restricted and repetitive patterns of behaviour, interests, or activities (1)
Additional exclusions depended on the specific analyses (Supplementary Table S1); for the Beighton Scoring System (BSS) analyses, 60 participants with Autism spectrum disorder (ASD) without comorbid attention deficit hyperactivity disorder (ADHD) and 136 participants with ASD with comorbid ADHD were included for Generalised joint hypermobility (GJH), while 55 participants with ASD without comorbid ADHD and 128 participants with ASD with comorbid ADHD were included for symptomatic GJH
For the five–part questionnaire on hypermobility (5PQ) analyses, 57 participants with ASD without comorbid ADHD and 134 participants with ASD with comorbid ADHD were included for GJH, while 56 participants with ASD without comorbid ADHD and 129 participants with ASD with comorbid ADHD were included for symptomatic GJH
Summary
Autism Spectrum Disorder (ASD) is comprised of a group of conditions characterised by persistent difficulties in social interaction and communication, as well as restricted and repetitive patterns of behaviour, interests, or activities (1). ASD is associated with several comorbid psychiatric and physical conditions (4–6). The reported prevalence rates vary widely between studies, likely related to the clinical and pathogenetic heterogeneity of ASD (4). The 2013 update (5th edition) of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) permitted a co-occurring ADHD diagnosis with ASD (1). One recent meta-analysis estimated the lifetime prevalence of ADHD amongst patients with ASD to be approximately 40% (7), depression, obsessivecompulsive disorder and anxiety are common (6), in addition to gender dysphoria (8). Physical comorbidities e.g., sleep related problems, epilepsy, sensory impairments, atopy, autoimmune conditions, clumsiness, and obesity are frequently reported (5). Comorbidities may substantially impair the quality of life in already severely distressed people. Generalised joint hypermobility (GJH) is one such condition that has recently been proposed as a neglected comorbidity in ASD (9)
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