Throat and voice problems in<scp>Ehlers–Danlos</scp>syndromes and hypermobility spectrum disorders

Birchall, Martin A.; Lam, Chon Meng; Wood, Gary

doi:10.1002/ajmg.c.31956

Cited by 11 publications

(15 citation statements)

References 24 publications

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“…As the largest study of its kind in terms of exploring throat symptoms of EDS/HSD and self‐management strategies, this work provides a unique and valuable contribution and has generated interest from leading health care practitioners specializing in EDS and HSD. Prior to this study, throat symptoms of EDS/HSD have not been well reported or characterized 20 …”

Section: Discussionmentioning

confidence: 99%

“…mechanisms by which one's voice may be affected. 20 As the largest study of its kind in terms of exploring throat symptoms of EDS/HSD and self-management strategies, this work provides a unique and valuable contribution and has generated interest from leading health care practitioners specializing in EDS and HSD.…”

Section: Discussionmentioning

confidence: 99%

“…Prior to this study, throat symptoms of EDS/HSD have not been well reported or characterized. 20 Recruitment of participants was highly successful for the cEDS, hEDS, and HSD groups, resulting in a large sample and strong reliability of results for these groups as well as allowing comparisons to be drawn between them. The small sample size obtained for the rarer types of EDS is likely to reflect the rarity of these conditions, the prevalence of which is not known.…”

Section: Discussionmentioning

confidence: 99%

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Self‐reported throat symptoms in Ehlers–Danlos syndromes and hypermobility spectrum disorders: A cross‐sectional survey study

Williams,

Wood,

Hakim

et al. 2023

Laryngoscope Investig Oto

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ObjectivesThis study identified the frequency and severity of dysphagia, dysphonia, and laryngopharyngeal reflux symptoms in people with Ehlers–Danlos syndromes (EDS) or hypermobility spectrum disorders (HSD) and explored differences between diagnostic groups.MethodsParticipants were recruited via non‐probability convenience sampling. Information was gathered via online survey, including the Reflux Symptom Index (RSI; Belafsky et al., J Voice. 2002;16:274–277), the Eating and Drinking Assessment Tool (EAT‐10; Belafsky et al., Ann Otol Rhinol Laryngol. 2008;117:919–924), and the Voice Handicap Index (VHI; Jacobson et al., Am J Speech Lang Pathol. 1997;6(3):66–70). These were analyzed using ANOVAs.ResultsThere were 1620 participants (96.6% female, 2.8% male) that met the inclusion criteria. The mean age was 38.09 (SD 12.22). 75.51% had hypermobile EDS (hEDS), 17.83% had HSD and 3.33% had classic EDS (cED). The cohort's mean scores were RSI = 22.95 (SD 9.01), EAT‐10 = 11.91 (SD 9.66), and VHI score = 31.99 (SD 24.36). The hEDS group had significantly higher mean scores than the HSD group on RSI score and on some RSI items, on EAT‐10 score and on all EAT‐10 items, and on one VHI item.ConclusionPeople with EDS/HSD experience symptoms of acid reflux, dysphagia, and dysphonia to varying degrees with significant differences between hEDS than HSD. Awareness of the impact of EDS/HSD on throat symptoms will enable health care professionals to anticipate throat symptoms more readily in this population, providing individualized and effective management plans.Level of EvidenceIV.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Self‐reported throat symptoms in Ehlers–Danlos syndromes and hypermobility spectrum disorders: A cross‐sectional survey study

Williams,

Wood,

Hakim

et al. 2023

Laryngoscope Investig Oto

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“…Patients with altered voice, deep neck pains, choking, and swallowing problems may also benefit from voice therapy, which is a low-risk treatment option. 6,7 Beyond PT/ OT, patients may seek out alternative methods of exercise and movement depending on their tolerance. Gentle movement techniques that encourage efficient movement and well-being include Alexander technique, Feldenkrais, tai chi, and qigong.…”

Section: Movementmentioning

confidence: 99%

“…In addition, some patients may experience benefits from neurologic, orthopedic, or pelvic floor PT. Patients with altered voice, deep neck pains, choking, and swallowing problems may also benefit from voice therapy, which is a low-risk treatment option 6,7. Beyond PT/OT, patients may seek out alternative methods of exercise and movement depending on their tolerance.…”

Section: Movementmentioning

confidence: 99%

Hope for Hypermobility: Part 2—An Integrative Approach to Treating Symptomatic Joint Hypermobility

Daylor¹,

Gensemer²,

Norris³

et al. 2023

Topics in Pain Management

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designates this enduring material for a maximum of 1.5 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. To earn CME credit, you must read the CME article and complete the quiz and evaluation assessment survey on the enclosed form, answering at least 70% of the quiz questions correctly. This CME activity expires on March 31, 2025. NCPD AccreditationLippincott Professional Development is accredited as a provider of nursing continuing professional development (NCPD) by the American Nurses Credentialing Center's Commission on Accreditation. Lippincott Professional Development will award 2.5 contact hours for this NCPD activity. This activity is also provider approved by the California Board of Registered Nursing, Provider Number CEP 11749 for 2.5 contact hours. Lippincott Professional Development is also an approved provider of continuing nursing education by the District of Columbia, Georgia, West Virginia, New Mexico, South Carolina, and Florida, CE Broker #50-1223. Your certificate is valid in all states. Instructions for earning ANCC contact hours are included on page 11 of the newsletter. This NCPD activity expires on March 6, 2026.

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Respiratory manifestations in the Ehlers–Danlos syndromes

Bascom

Dhingra

Francomano

2021

American J of Med Genetics Pt C

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Persons with the Ehlers-Danlos syndromes (EDS) report a wide range of respiratory symptoms, most commonly shortness of breath, exercise limitation, and cough. Also reported are noisy breathing attributed to asthma, difficulty with deep inhalation, and inspiratory thoracic pain. The literature consists of case reports and small crosssectional and cohort studies. One case-control study estimated twofold to threefold greater respiratory disease burden among persons with EDS as compared to controls.The differential diagnosis for symptoms is broad. Structural alterations include pectus deformities, scoliosis, recurrent rib subluxations, and tracheobronchomalacia, associated with varying degrees of physiologic impairment. Those with vascular EDS have an increased risk of pneumothorax, intrapulmonary bleeding, cysts, and nonmalignant fibrous nodules. Functional aerodigestive manifestations such as inducible laryngeal obstruction may be misdiagnosed as asthma, with gastro-esophageal dysmotility and reflux as common contributing factors. Inflammatory manifestations include costochondritis, bronchiectasis, and localized respiratory allergic and nonallergic mast cell activation. Cranio-cervical instability can dysregulate respiratory control pathways. There is a need for careful phenotyping using standardized clinical tools and patient-reported outcomes and continuing collaboration with aerodigestive specialists including otolaryngologists and gastroenterologists. Also needed is further evaluation of respiratory symptoms in persons with hypermobility spectrum disorders.Personalized monitoring strategies are invaluable for interpretation and long-term management of respiratory symptoms.

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Throat and voice problems inEhlers–Danlossyndromes and hypermobility spectrum disorders

Cited by 11 publications

References 24 publications

Self‐reported throat symptoms in Ehlers–Danlos syndromes and hypermobility spectrum disorders: A cross‐sectional survey study

Self‐reported throat symptoms in Ehlers–Danlos syndromes and hypermobility spectrum disorders: A cross‐sectional survey study

Hope for Hypermobility: Part 2—An Integrative Approach to Treating Symptomatic Joint Hypermobility

Respiratory manifestations in the Ehlers–Danlos syndromes

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