Joint hypermobility and the heritable disorders of connective tissue: clinical and empirical evidence of links with psychiatry

Baeza-Velasco, Carolina; Pailhez, Guillem; Bulbena, Antonio; Baghdadli, Amaria

doi:10.1016/j.genhosppsych.2014.10.002

Cited by 55 publications

(50 citation statements)

References 72 publications

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“…Recently, Baeza‐Velasco et al [] proposed a model of eating disorders in JHS/hEDS that provided some light about this phenomenon. The authors hypothesized that both articular and extra‐articular features play a role in developing and maintain these eating patterns (Fig.…”

Section: Literature Reviewmentioning

confidence: 99%

Psychiatric and psychological aspects in the Ehlers–Danlos syndromes

Bulbena¹,

Baeza-Velasco²,

Bulbena-Cabré³

et al. 2017

American J of Med Genetics Pt C

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109

104

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There is increasing amount of evidence pointing toward a high prevalence of psychiatric conditions among individuals with hypermobile type of Ehlers-Danlos syndrome (JHS/hEDS). A literature review confirms a strong association between anxiety disorders and JHSh/hEDS, and there is also limited but growing evidence that JHSh/ hEDS is also associated with depression, eating, and neuro-developmental disorders as well as alcohol and tobacco misuse. The underlying mechanisms behind this association include genetic risks, autonomic nervous system dysfunction, increased exteroceptive and interoceptive mechanisms and decreased proprioception. Recent neuroimaging studies have also shown an increase response in emotion processing brain areas which could explain the high affective reactivity seen in JHS/hEDS. Management of these patients should include psychiatric and psychological approaches, not only to relieve the clinical conditions but also to improve abilities to cope through proper drug treatment, psychotherapy, and psychological rehabilitation adequately coupled with modern physiotherapy. A multidimensional approach to this "neuroconnective phenotype" should be implemented to ensure proper assessment and to guide for more specific treatments. Future lines of research should further explore the full dimension of the psychopathology associated with JHS/hEDS to define the nature of the relationship. © 2017 Wiley Periodicals, Inc.KEY WORDS: joint hypermobility; anxiety; psychopathology; neuroconnective phenotype; hypermobile Ehlers-Danlos syndrome Professor Antonio Bulbena, M.D., M.Sc, Ph.D., is the Chair of the Department of Psychiatry at the Autonoma University of Barcelona with clinical, academic, and administrative contributions particularly in the area of psychosomatic medicine and anxiety disorders, dementia, chocolate and carbohydrates, clinical measurement in psychiatry, phobias, seasonality, and biometeorology. Has recently developed the Neuroconnective Phenotype and has published numerous books, book chapters, and scientific articles in peer-reviewed journals.Carolina Baeza-Velasco, Ph.D., is a clinical psychology at the Paris Descartes University, with important contributions in the area of psychological assessment and treatment of patients with comorbid anxiety disorders and joint hypermobility among other conditions. Has published several articles about the psychological factors of EDS and related conditions. Andrea Bulbena-Cabre, M.D., M.Sc., is a Psychiatry Research Fellow at the Icahn School of Medicine at Mount Sinai/J. J. Peters Bronx VA Hospital. She has specialized in psychosomatic medicine and is currently studying the anxiety-joint hypermobility phenomena in bipolar and psychotic spectrum disorders. Other research interests include substance abuse, especially in synthetic cannabis and psychosis.Guillem Pailhez, M.D., Ph.D., is an Assistant Professor at the Department of Psychiatry at the Autonoma University of Barcelona, has devoted his career in the study of the interactions between mind and body ...

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Section: Literature Reviewmentioning

confidence: 99%

Psychiatric and psychological aspects in the Ehlers–Danlos syndromes

Bulbena¹,

Baeza-Velasco²,

Bulbena-Cabré³

et al. 2017

American J of Med Genetics Pt C

Self Cite

109

104

View full text Add to dashboard Cite

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“…Based on their results, 50% of the children showed one or more neuropsychological deficits and symptoms similar to depression, which could be related to the serious motoric incoordination associated with Marfan syndrome. Baeza-Velasco and colleagues [20] showed that certain diseases of connective tissue (e.g. Marfan and Ehlers-Danlos syndrome) may be associated with various psychiatric symptoms, such as those of anxiety and depression.…”

Section: Discussionmentioning

confidence: 99%

The effects of acute and elective cardiac surgery on the anxiety traits of patients with Marfan syndrome

et al. 2017

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BackgroundMarfan syndrome is a genetic disease, presenting with dysfunction of connective tissues leading to lesions in the cardiovascular and skeletal muscle system. Within these symptoms, the most typical is weakness of the connective tissue in the aorta, manifesting as aortic dilatation (aneurysm). This could, in turn, become annuloaortic ectasia, or life-threatening dissection. As a result, life-saving and preventative cardiac surgical interventions are frequent among Marfan syndrome patients. Aortic aneurysm could turn into annuloaortic ectasia or life-threatening dissection, thus life-saving and preventive cardiac surgical interventions are frequent among patients with Marfan syndrome. We hypothesized that patients with Marfan syndrome have different level of anxiety, depression and satisfaction with life compared to that of the non-clinical patient population.MethodsPatients diagnosed with Marfan syndrome were divided into 3 groups: those scheduled for prophylactic surgery, those needing acute surgery, and those without need for surgery (n = 9, 19, 17, respectively). To examine the psychological features of the patients, Spielberger’s anxiety (STAI) test, Beck’s Depression questionnaire (BDI), the Berne Questionnaire of Subjective Well-being, and the Satisfaction with Life scale were applied.ResultsA significant difference was found in trait anxiety between healthy individuals and patients with Marfan syndrome after acute life-saving surgery (p < 0.01). The mean score of Marfan syndrome patients was 48.56 (standard deviation (SD): 5.8) as compared to the STAI population mean score of 43.72 (SD: 8.53). No difference was found between groups on the BDI (p > 0.1). Finally, a significant, medium size effect was found between patient groups on the Joy in Living scale (F (2.39) = 3.51, p = 0.040, η2 = 0.15).ConclusionsInvolving psychiatric and mental-health care, in addition to existing surgical treatment interventions, is essential for more successful recovery of patients with Marfan syndrome.

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“…There is a small but growing literature that suggests an etiological overlap between EDS/HSD and autism Baeza-Velasco et al, 2015). While we are unable to estimate true comorbidity rates in this study due to the ways in which respondents were recruited (potential bias), we will nevertheless briefly describe our EDS/HSD sample.…”

Section: The Immune Endocrine and Autonomic Nervous Systemsmentioning

confidence: 96%

“…Early evidence suggests that autism and EDS/HSD overlap comorbidly Baeza-Velasco et al, 2015). Although a number of case studies have been published since the 1980s, a more recent nationwide study from Sweden indicates that approximately 3% of individuals with EDS have an autism diagnosis (Fehlow & Tennstedt, 1985;Sieg, 1992;Fehlow et al, 1993;Takei et al, 2011;Cederlöf et al, 2016).…”

Section: Introductionmentioning

confidence: 99%

Immune, Autonomic, and Endocrine Dysregulation in Autism and Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders Versus Unaffected Controls

Casanova

Sharp

Edelson

et al. 2019

Preprint

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BackgroundA growing body of literature suggests etiological overlap between Ehlers-Danlos syndrome (EDS)/hypermobility spectrum disorders (HSD) and some cases of autism, although this relationship is poorly delineated. In addition, immune, autonomic, and endocrine dysregulation are reported in both conditions and may be relevant to their respective etiologies.AimsTo study symptom overlap in these two comorbid spectrum conditions.Methods and ProceduresWe surveyed 702 adults aged 25+ years on a variety of EDS/HSD-related health topics, comparing individuals with EDS/HSD, autism, and unaffected controls.Outcomes and ResultsThe autism group reported similar though less severe symptomology as the EDS/HSD group, especially in areas of immune/autonomic/endocrine dysregulation, connective tissue abnormalities (i.e., skin, bruising/bleeding), and chronic pain. EDS/HSD mothers with autistic children reported more immune symptoms than EDS/HSD mothers without, suggesting the maternal immune system could play a heritable role in these conditions (p = 0.0119).Conclusions and ImplicationsThese data suggest that EDS/HSD and autism share aspects of immune/autonomic/endocrine dysregulation, pain, and some tissue fragility, which is typically more severe in the former. This overlap, as well as documented comorbidity, suggests some forms of autism may be hereditary connective tissue disorders (HCTD).

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Joint hypermobility and the heritable disorders of connective tissue: clinical and empirical evidence of links with psychiatry

Cited by 55 publications

References 72 publications

Psychiatric and psychological aspects in the Ehlers–Danlos syndromes

Psychiatric and psychological aspects in the Ehlers–Danlos syndromes

The effects of acute and elective cardiac surgery on the anxiety traits of patients with Marfan syndrome

Immune, Autonomic, and Endocrine Dysregulation in Autism and Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorders Versus Unaffected Controls

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