Laryngological presentations and patient-reported outcome measures in Ehlers–Danlos syndrome

Abstract

Objective. This study aimed to characterise the laryngological presentations of Ehlers-Danlos syndrome and conduct a preliminary exploration of patient-reported outcome measures.Methods. This paper describes a retrospective case series of patients with Ehlers-Danlos syndrome seen by the senior author between 2005 and 2019. A literature review was conducted to summarise the existing findings.Results. Twenty-one patients met the inclusion criteria. All reported symptoms were grouped; this showed that swallowing, voice and hyolaryngeal skeletal complex problems were commonest. Patient-reported outcome measures were available for eight patients, which showed large variations in: the Reflux Severity Index (median = 25.5; range = 0-33), Eating Assessment Tool score (median = 21.5; range = 0-35) and Voice Handicap Index (median = 21.5; range = 0-104). Twelve studies met our literature review inclusion criteria, involving at least 91 patients with laryngological presentations of Ehlers-Danlos syndrome. Conclusion.Ehlers-Danlos syndrome patients experience musculoskeletal issues, which in the throat manifest as hyolaryngeal skeletal complex problems. Future studies with larger patient numbers are required to validate laryngological patient-reported outcome measure tools in Ehlers-Danlos syndrome.https://www.cambridge.org/core/terms.

‘I Have Had to Stop Singing Because I Can't Take the Pain’: Experiences of Voice, Ability, and Loss in Singers With Hypermobility Spectrum Disorders

“…Some described occasional painful spasms in their throat, coughing, choking, or other unpleasant laryngeal sensations. These echo descriptions of patients with EDS who present with subluxations of the hyoid bone 18,23 or larynx 19 , swallowing difficulties 18,23 and breathing difficulties 38 . However, few participants had undergone laryngeal assessment or received speech and language therapy, despite ongoing difficulties.…”

“…Our findings indicate a high prevalence of dysphonia, in line with previous research. 18,[20][21][22][23][24][25] Our participants experienced difficulties achieving volume and maintaining modal phonation, vocal fatigue with little use, and unpredictable breaks in phonation. Some described occasional painful spasms in their throat, coughing, choking, or other unpleasant laryngeal sensations.…”

“…17 However, a HCTD can potentially affect any joint and collagen-based tissue in the body, 3,15 including those of the vocal tract. Previous research of voice function in people with hypermobility disorders is limited to clinical case reports [18][19][20][21][22][23] and two cohort studies 24,25 all of which involve people with EDS. Case reports have identified joint problems in the vocal tracts of adults and children with EDS, including subluxation of the hyoid bone, 18,23 subluxation of the larynx, 19 reduced mobility of the arytenoids 21 and hypermobility of arytenoids.…”

“…Previous research of voice function in people with hypermobility disorders is limited to clinical case reports [18][19][20][21][22][23] and two cohort studies 24,25 all of which involve people with EDS. Case reports have identified joint problems in the vocal tracts of adults and children with EDS, including subluxation of the hyoid bone, 18,23 subluxation of the larynx, 19 reduced mobility of the arytenoids 21 and hypermobility of arytenoids. 22 Problems with the structure or functioning of the vocal folds, 18,20,21 hypotonicity in the larynx and pharynx 18 and oesophagus 26 were also reported.…”

“…Although clinical symptoms can be subtle, 18 research suggests that functional voice and throat problems occur more commonly in EDS than in the general population. 24,25 These include problems with swallowing, 23,24 hoarse voice in the absence of infections, 25 limited pitch range, easy vocal tiring and difficulties projecting or shouting. 24 Compared to the general population, hypermobility may be more prevalent in musicians and performers, 27 for whom the condition is both an asset 28 and a liability.…”