Department of Otolaryngology, Great Ormond Street Hospital for Children, London, United Kingdom. 

Ehlers-Danlos syndrome is a connective tissue disorder characterized by joint hypermobility, skin hyperextensibility and cutaneous fragility. It usually presents in young adults and is rarely diagnosed in children. Voice involvement in young children, to our knowledge, has not been reported in the literature. We present two cases with dysphonia from birth and an eventual diagnosis of Ehlers-Danlos syndrome. The syndrome and its relevance to voice pathology are discussed. We suggest that Ehlers-Danlos syndrome should be considered as an underlying diagnosis in atypical presentations of dysphonia in young children.

804 BRITISH JOURNAL OF RHEUMATOLOGY VOL. 37 NO. 7

http://rheumatology.oxfordjournals.org/cgi/reprint/37/7/803

 A survey of EDS: Hearing, Voice, Speech and Swallowing Difficulties. Is there an Underlying Relationship

We would like to report the results of a recent survey which, for the first time, has demonstrated hearing, speech, voice and language difficulties in a large cohort of patients with EDS. EDS is an inherited disorder of connective tissue that affects multiple organ systems. There is a classic triad of skin hyperextensibility, joint hyperlaxity and brusing. Although the EDS is increasingly being studied, this is the first time that an assessment of speech-related problems has been sought.

The first author is a speech therapist who has become professionally involved with this group of patients and was struck by the absence of literature on the problems she encountered. A postal questionnaire was circulated to the 411 members of the nationwide EDS support group and EDS types 1,2,3,4 and 6 were represented amongst the returns. The questionnaire was specifically designed for this survey and included introductory questions such as “Have you got/ever had difficulties with your voice?” Further sub-questions were then asked according the to respondent’s answer. There was a >50% response rate from a single mailing. The mean age was 45.5 years (range 1.5-80 ) with more females than males.

The most commonly reported symptom was difficulty in swallowing. This occurred in 39% of responders. Of these ¾ had difficulty clearing their throat on one swallow and 2/3 reported a tightness or a lump in the throat during swallowing. They reported the need to swallow several times before the pharynx was cleared. Many subjects found that eating soft food helped, whereas others felt unable to eat alone for fear of choking. Difficulties in chewing occurred in 25%. Discrepancies between lower and upper jaw alignment were major components of their problems. Orthodontic and temporomandibular joint problems in EDS are well described.

There was also a high rate of aurally related symptoms and 28% reported being unable to sustain a voice or shout. Delays in language development and premature degeneration of speech according  to the prompt question of “Have you ever had difficulties with understanding or using your own speech?” occurred in a high frequency than in the general population. The incidence of dysphonia in the general population is 28 per 100,000. The current study identified dysphonia in 89 out of 327 (27%). Speech and language difficulties are estimated to occur at a rate of 1100 per 100,000 (1%) in pre and school-age children, but EDS subjects reported difficulties at a rate of 157 out of 327 (48%) in this age range. Tiring and other age-related effects on voice, such as poor quality, limited range of pitch and maintenance of voice, etc. were reported from age 11 onwards. The mean age of onset was 36 yr. (range from 11-63 yr). The language difficulties were self-limiting in 46%, but remained persistent in 54% of subjects.

The high prevalence of speech and swallowing difficulties in EDS may suggest that some of these problems are secondary to the underlying connective tissue defect.

1. Hunter, A.W. Morgan, H.A. Bird

Ehlers Danlos Support Group, 1 Chandler Close, Richmond, North Yorkshire DL10 5QQ and *Clinical Pharmacology Unit, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7, 4SA

 Accepted 20 February 1998

 See page 803 and 804 of British Journal of Rheumatology Volume 37, NO. 7

http://rheumatology.oxfordjournals.org/cgi/reprint/37/7/803.pdf

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