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What all nurses need to know about Stickler syndrome

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Abstract

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.

It is vital for all nurses to be aware of this genetic disorder so that affected individuals can receive the appropriate care quickly. A recent survey conducted into the clinical manifestations of Stickler syndrome identified that diagnosis is often delayed. This is attributed to underdiagnosis by the screening techniques, despite the fact that 80 per cent of affected individuals have a positive family history (Stickler et al, 2001).

 

What is Stickler syndrome?

 

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.

 

Stickler syndrome manifests itself by affecting the collagen proteins (Richards et al, 2000). Collagen forms a major part of connective tissue and is found throughout the body, where it acts as a structural support, allowing for elastic stretching and tightening. Collagen is also an important constituent in cartilage, which covers the joints, and is found within the sclera, cornea and vitreous humour of the eyes.

 

Two main genes are responsible for most cases of Stickler syndrome:

 

- COL2A1, which accounts for approximately 75 per cent of all cases and is referred to as type 1; and

 

- COL11A1, which is known as type 2.

 

Another gene is known to produce similar symptoms: COL112A, which causes joint and auditory problems but no eye problems and has been labelled oto-spondylo-megaepiphyseal dysplasia (OSMED). There is also a fourth group for which the genetic causes have yet to be determined.

 

Stickler syndrome is a hereditary autosomal dominant condition, which is passed from parent to child of either gender (Richards et al, 2000). Each child has a 50 per cent chance of inheriting the gene if one parent is affected. However, to complicate matters further, in cases where there is no previous family history the syndrome can be caused by a new mutation.

 

Symptoms

 

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.

 

The main symptoms have been identified as follows (Snead and Yates, 1999; Letts et al, 1998):

 

- Myopia in one or both eyes ranging from mild to severe, which may cause squints or a detached retina. This usually occurs from the teenage years onwards. Cataracts, glaucoma, astigmatism and independent eye movements may also occur.

 

- Cleft of the soft and hard palate, either singularly or in combination. Micrognathia, in which the lower jaw is shorter than the top, producing symptoms similar to Pierre Robin syndrome, is also seen as well as a high arched palate.

 

- Hearing loss, varying from deafness to impaired hearing, is usually noted from birth. Glue ear also occurs, mainly as a result of problems with a cleft palate.

 

- Small bridge of the nose, which can give the face a flat appearance, widened and accentuated eyes and a small, regressed jaw (upper and/or lower). These problems often improve with age.

 

- Stiff, sore and inflamed joints causing acute or chronic pain. This may lead to early-onset rheumatoid arthritis, osteoarthritis - usually in later life - or abnormalities at the ends of bones. In addition, hyperflexion, double jointedness and scoliosis are sometimes found.

 

- Mitral valve prolapse occasionally occurs.

 

Screening

 

Screening can be performed using a blood or DNA sample. The main centre for definitive diagnostic testing for Stickler syndrome is in Belgium, so it may take up to six months for the results to be received. However, it should be stressed that screening may not identify the appropriate gene, so diagnosis should then be confirmed by the signs, symptoms and the family history of the patient. This process is labour intensive as it requires a technician to search manually for the faulty gene.

 

A team at Addenbrookes Hospital, Cambridge, is also investigating Stickler syndrome and has been conducting ophthalmic and genetic testing for a number of years.

 

 

Implications for nurses

 

- 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.

 

- Suspicions should be discussed in multidisciplinary teams because this is likely to lead to appropriate action being taken, such as further screening.

 

- Ophthalmic problems need to be treated urgently since any delay in treatment can result in irreversible damage. Stickler syndrome is the most commonly inherited cause of rhegmatogenous retinal detachment in children who have a high risk of retinal tear, which is commonly bilateral and a potential cause of blindness (Snead, 1996).

 

- Dental nurses need to be aware that a cleft palate may be part of a wider syndrome.

 

- School nurses have a compelling need to be up to date on all aspects of this condition because their client group may require urgent medical assistance.

 

- Stickler syndrome has no cure, so prompt diagnosis and prophylactic treatment is required to manage this complex syndrome. Once a diagnosis has been established the need for emotional and family support is of paramount importance.

 

Living with Stickler syndrome

 

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.

 

‘I am a 35-year-old psychiatric nurse, married with two children. A short time ago both my children and I were diagnosed with Stickler syndrome. My childhood was normal; I did well at school academically and I had no problems physically until, at the age of 12, the retina in my left eye spontaneously detached. As it was painless I failed to recognise the seriousness of the situation. It is a bit hard to explain, but the ‘good’ eye took over and very quickly compensated for the weaker eye. Unfortunately, my surgery was unsuccessful, perhaps because of the time delay and the sight in my left eye has been lost ever since.

 

‘I have undergone preventative surgery in my right eye, in the form of cryotherapy on two occasions, and can see well from this eye. I have also suffered from mild joint pains but nothing too severe until my late twenties when I sustained a shoulder injury at work. X-rays revealed that the ball of my shoulder joint was slightly irregular and further investigations showed that there were similar problems with some of my other joints. No reason was given for either the detached retina or the joint irregularities and no connection was made between these two incidences.

 

‘When my first child was born in 1998 it was noted at birth that he had a cleft of his soft palate. A geneticist who saw my son during his stay in hospital for cleft repair surgery at the age of eight months, felt that the cleft was an isolated problem. While reading up on cleft palate, however, I discovered a condition that links retinal detachment, cleft palate and joint problems. At this point, I was certain that both my son and I had this condition. However, no one else agreed, including my ophthalmologist, paediatrician, geneticist, orthodontist or my husband.

 

My daughter was born in 2000, also with a cleft soft palate. A consultant geneticist finally confirmed the diagnosis of Stickler syndrome in April 2002, but only after we pushed for an appointment to answer the ever-mounting questions we wanted answered.

 

‘Once formally diagnosed I made contact with Wendy Hughes, president of the Stickler Syndrome Support Group, who has the syndrome herself. I had already read Hughes’ article (Hughes, 1995) and found that her support group provides excellent information and regular research updates.

 

‘I felt and continue to feel so many conflicting emotions: fear for what the future holds for my children and worries about their eyesight, joints and problems that may arise at school. I feel angry that I have this condition and that I have passed it on to my children. However, I also feel relieved that we now know what the problem is and can seek help should any difficulties arise.

 

‘Would I have had my children if I knew about the syndrome? I don’t know, but I do know that I cannot imagine life without them. It gives me hope that I have lived with the condition for 35 years without it overshadowing my whole life. I have also been told that I do not ‘look’ like someone who has Stickler syndrome. Certain facial characteristics can be present but are not always immediately obvious.

 

‘In our case, the condition seems to have started with me because we have no other family history. My chances of passing the condition on to my children are 50:50 for each child. This is also true for my children, unless genetic research takes a huge leap forward. The severity of the symptoms varies widely, even within the same family. My children are bright, articulate, energetic and a source of real joy and at some point in the future my husband and I will discuss this condition with them.

 

‘I decided to contribute to this article because I want to raise awareness of a relatively common, yet seriously underdiagnosed condition. Also, all the information I have read seems to be so frighteningly negative. However, research in this field continues and happiness while living with this syndrome is not an unobtainable goal.’

 

Further information about Stickler syndrome and an information pack may be obtained from:

 

Stickler Syndrome Support Group

 

PO Box 371

 

Walton on Thames

 

Surrey

 

KT12 2YS

 

Tel: 01932 267635

 

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