Complex Neuropresentions in Hypermobility Spectrum Disorders: Interacting Mechanisms and Comorbid Conditions

Hypermobility Spectrum Disorders (HSD) refer to a group of diagnoses in which connective tissue is compromised: hypermobile Ehlers-Danlos Syndrome, hypermobility spectrum disorders, and pre-2017 diagnoses of hypermobile joint syndrome. Because connective tissue is prevalent in all components of the nervous system, people with HSD often present with complex and unusual neurological manifestations, including: craniocervical and atlantoaxial instability, occult tethered cord, Chiari I malformation, dysautonomia, cerebrospinal fluid leaks, idiopathic intracranial hypertension, Eagle syndrome, Tarlov cysts, dystonia, and a variety of peripheral neuropathies. Sensory processing and interoceptive abnormalities may also provoke further physical stress and damage to the nervous system. Neuropsychiatric manifestations such as ‘brain-fog,’ anxiety, neurodivergence and a neurosensitive phenotype are also prevalent in this population driven by chronic pain, disability and the uncertainties when facing medical uncertainties[PK1.1] . Diagnosing and managing the neurological manifestations in HSDremains a challenge for primary and specialized physicians, especially as they often coexist with one another as well as other comorbidities such as myalgic encephalomyelitis/chronic fatigue syndrome, functional neurological disorder, and inflammatory disorders such as mast cell activation syndrome. The extensive overlap among these conditions suggests that they may share some fundamental abnormalities related to the biomechanical and structural weaknesses of the connective tissue in the affected body promoting inflammation, sensory disntegration and blood-brain barrier disruption The complex and overlapping presentations make screening and diagnosis difficult, leading to uncertainties, hesitation and delayed or misdiagnosis. This is especially true when brain-body interactions blur the distinction between physiological and psychological involvement. Improved understanding of how underlying pathophysiology impacts clinical presentation may lead to improved diagnosis and management. Understanding the relationships among these neuropresentations may also improve our ability to triage and identify which interventions might have the greatest impact. This Research Topic will explore the anatomical, pathyphysiological, biodynamic and/or biomechanical, neurological, immune and psychiatric relationships, similarities and differences among neuropresentations associated with HSD and identify clinical and pathological biomarkers for the above. The goals are to better 1) understand the underlying mechanisms of neuropresentation in HSD and how the various neurological and neuropsychiatric disorders can increase the risk of and exacerbate the others, 2) recognize and differentiate among these conditions in the clinic, and 3) manage these conditions individually and when they co-exist. To gain insight into the complex neuropresentations associated with Hypermobility Spectrum Disorders (HSD), including hypermobile Ehlers-Danlos syndrome (hEDS), we welcome articles addressing, but not limited to, the following themes:• Pathology, including pathoanatomical and pathophysiological mechanisms contributing to neuropresentations in HSD.• The role of connective tissue disorders in the pathophysiology underlying these conditions.• The role of autonomic nervous system dysfunction in these conditions.• The role of the immune system in the pathophysiology underlying these conditions.• The brain-body relationship and how it is driven by neurobiology and neuropsychology in people with HSD.• Development of effective screening tools to rule in or out any of these conditions. • How to recognize and differentiate among these conditions through symptoms, physical signs, imaging, laboratory and other testing.• How the pathology underlying these conditions interact to exacerbate one another.• Appropriate conservative rehabilitation treatment (e.g., PT, OT, etc.) for these conditions.• Appropriate pharmacological treatment for these conditions.• The role of psychological management for these conditions, addressing both psychological factors contributing to, and the consequences of having conditions that are difficult to diagnose and treat.• How to determine if or when surgical management is indicated. Topic editors: Leslie Russek, Alba Azola, Petra M Klinge, Ilene Sue Ruhoy, Cliffton Chan Source: https://www.frontiersin.org/research-topics/76975/complex-neuropresentions-in-hypermobility-spectrum-disorders-interacting-mechanisms-and-comorbid-conditions