Dataset Information

Functional neurological signs in hypermobile Ehlers-Danlos syndrome and hypermobile spectrum disorders with suspected neuropathic pain.

ABSTRACT:

Background

The hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are connective tissue disorders characterized by generalized joint hypermobility, associated with chronic pain and several symptoms, such as fatigue, dysautonomia, as well as psychiatric co-morbidities. Clinical observations of unusual manifestations during systematic sensory testing raised the question of a possible co-existence with a functional neurological disorder (FND). Hence, this study aimed to assess the presence of positive functional neurological signs (FNS) in a cohort of patients with hEDS/HSD.

Methods

The clinical data of hEDS/HSD patients (N = 24) were retrospectively analyzed and compared to a prospectively recruited age-/sex-matched healthy control group (N = 22). Four motor- and three sensory-positive FNS were assessed.

Results

Twenty-two patients (92%) presented at least one motor or sensory FNS. Five patients (21%) presented only a single FNS, 14 presented between 2 and 4 FNS (58%), and 3 patients presented 5 or more FNS (12%). None of the healthy controls presented motor FNS, and only two presented a sensory FNS.

Conclusions

The presence of FNS in hEDS/HSD deserves better clinical detection and formal diagnosis of FND to offer more adequate care in co-morbid situations. In fact, FND can severely interfere with rehabilitation efforts in hEDS/HSD, and FND-targeted physical therapy should perhaps be combined with EDS/HSD-specific approaches.

SUBMITTER: Fernandez A

PROVIDER: S-EPMC10897362 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Functional neurological signs in hypermobile Ehlers-Danlos syndrome and hypermobile spectrum disorders with suspected neuropathic pain.

Fernandez Aurore A Jaquet Manon M Aubry-Rozier Bérengère B Suter Marc M Aybek Selma S Berna Chantal C

Brain and behavior 20240201 2

<h4>Background</h4>The hypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are connective tissue disorders characterized by generalized joint hypermobility, associated with chronic pain and several symptoms, such as fatigue, dysautonomia, as well as psychiatric co-morbidities. Clinical observations of unusual manifestations during systematic sensory testing raised the question of a possible co-existence with a functional neurological disorder (FND). Hence, this s ...[more]

PMID: 38409931

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Project description:The reported prevalence of hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos Syndrome (hEDS) is unclear due to complex presentations and lack of awareness amongst professionals, contributing to diagnostic and management uncertainties. Standardising an outcome measure to assess symptoms most important to patients should help determine the impact of interventions. This Delphi study aims to reach a consensus with stakeholders on the core outcome set for children and adults with HSD/hEDS. A three-round modified Delphi consensus study with a follow-up consensus meeting was used. Stakeholder groups consisted of (1) individuals with HSD/hEDS; (2) family/friends/carers and (3) healthcare professionals. Participants could belong to more than one stakeholder group. They rated 74 symptoms using a 9-point Likert scale: 1 "not important to 9 "critically important". Symptoms achieving a consensus rating of ≥ 70.0% critical importance across all groups were included. In Round 1, 766 responses were received from 600 participants, reducing to 566 responses from 438 participants by Round 3, with 53 participating in the consensus meeting. Overall, 30 symptoms met the ≥ 70.0% critically important threshold to be included in the final core outcome set. These were categorised under the specialties of musculoskeletal and orthopaedics, social, pain, gynaecology and urology, negative affect, neurological, gastrointestinal and "other". This study is the first to identify by consensus the core outcome set to be measured for patients with HSD/hEDS. The importance of these outcomes was confirmed by individuals living with the condition, their family, friends, carers and relevant healthcare professionals. Trial registration: IRAS ID: 326,855; East Midlands - Leicester South REC (reference: 23/EM/0143); Protocol registered with the COMET Initiative. Key Points • There is a lack of standardised outcome measure for HSD/hEDS research studies due to the heterogeneity of symptom presentations. • Symptoms across musculoskeletal and orthopaedics, social, pain, gynaecology and urology, negative affect, neurological, gastrointestinal and "other" specialties were identified as the core outcome set defined as ≥ 70.0% critically important to measure for individuals with HSD/hEDS. • There were a significant number of symptoms, widely recognised in the literature to be comorbid to HSD/hEDS, that reached a critical importance threshold of 50.0-69.9%, restricting the core outcome set to only those that met 70% or above may be limiting.

Dataset Information

Functional neurological signs in hypermobile Ehlers-Danlos syndrome and hypermobile spectrum disorders with suspected neuropathic pain.

Background

Methods

Results

Conclusions

Publications

Functional neurological signs in hypermobile Ehlers-Danlos syndrome and hypermobile spectrum disorders with suspected neuropathic pain.

Similar Datasets

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