VOL: 99, ISSUE: 13, PAGE NO: 28
Elizabeth Brown, RMN, is staff nurse, Crichton Royal Hospital, Dumfries
Josef Brown, BSc (Mental health), BSc (Nursing studies) RMN, RGN, DipHE, is nurse lecturer, Crichton University Campus, Dumfries; Glenn R Marland, BEd, MN, PGCRM, DipN, RMN, RNT, is senior lecturer, Crichton University Campus, Dumfries.
Stickler syndrome is estimated to affect between one in 3,000 and one in 10,000 people (Hughes, 1995) but this figure could be higher because of the difficulties associated with diagnosing the condition. Symptoms are very diverse and include myopia, cleft of the soft and hard palates, hearing loss, joint problems and occasionally prolapse of the mitral valve in the heart.
The term syndrome is used to describe a group of symptoms that have a common cause. It is derived from the Greek sundrome which means to run together. Dr Gunnar Stickler first defined Stickler syndrome, or hereditary progressive arthro-ophthalmopathy, in the USA in 1965 (Stickler et al, 1965). He noted that there was a familial similarity spanning several generations and family members presenting with similar problems. After a period of research, he was able to identify and document the condition.
Each patient presents with a unique combination of symptoms, which makes diagnosis extremely difficult. Many individuals are categorised into pigeon-holes that deal with their presenting problem.
A team at Addenbrookes Hospital, Cambridge, is also investigating Stickler syndrome and has been conducting ophthalmic and genetic testing for a number of years.
- Nurses need to be aware of all the signs and symptoms associated with Stickler syndrome so that when problems group together this will not be attributed to coincidence. The boundaries of assessment need to be extended beyond each presenting complaint.
The following is a personal account from someone who has recently been diagnosed with Stickler syndrome. The case study presents the personal and social issues connected with living with the condition and shows how the condition can go unnoticed for years. Nurses can help in this respect by taking a holistic approach to patient care and raising the possibility with colleagues that a patient may have the condition.