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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.
- 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
1.
Beighton P. The Ehlers Danlos syndromes. In: Beighton P, ed. McKusicks
heritable disorders of connective tissue, 5th edn.
St Louis: Mosby, 1993:189–251. syndrome.
Raccah et al of
2.
Norton LA,
Assael LA.
Orthodontic and temporomandibular
joint
considerations in the treatment of patients with Ehlers Danlos
Syndrome. Am J Orthodont Dentofacial Orthop
1997;111:75–84.
3.
Incidence and prevalence table. Communicating quality
London:
Royal
College
of Speech and Language Therapy, 1996.
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