| ASPECTS |
|
||||||||
|
|
|
|
|
|
|||
Contents
RESEARCH
Women with Turner syndrome needed for Genetic Study
Answer Web Site
The Teenage Treatment ‘Black Hole’
The Importance of Adult Clinics
Parenting Advice - A Guide for Parents
Recommended care for Adults with TS
Emma-Jane Gault, Department of Child Health, Royal Hospital for Sick Children, Glasgow, G3 8SJ
This prospective UK collaborative study of growth promoting treatment in Turner syndrome (TS) is being run by the British Society for Paediatric Endocrinology & Diabetes’ (BSPED). Its first patient was enrolled in 1999. The study aims to determine whether, in a group of girls with TS receiving a standard dose of growth hormone (GH):
the addition of the anabolic steroid Oxandrolone (Ox) from 9 yrs improves final height (FH).
the introduction of E2 “early” (at 12 yrs) rather than “late” (at 14 yrs) has any influence on FH.
One hundred and two girls with TS, aged 7-13 yrs, receiving GH & with no previous treatment with Ox or E2 have been enrolled at 40 UK hospitals. Girls are randomly allocated to one of 4 treatment groups:
GH, Ox, Early E2
GH, Placebo, Early E2
GH, Ox, Late E2
GH, Placebo, Late E2
A sub-group of girls aged ≥12 yrs on enrolment are randomly allocated to either group 3 or 4.
The long-term nature of this study means that final results will not be available until 2007. However, baseline data are now available.
The average age of girls at enrolment was 9.9 years and they started GH at an average age of 6.4 years. As expected, the group was significantly shorter for age than the general population.
Cardiac & renal abnormalities: There was a high prevalence of heart and kidney problems (26% & 21% respectively). However, in most cases, these were mild. For example, many girls have 2 rather than 3 ‘flaps’ in the aortic valve; a feature that requires surveillance only. A common renal finding was a duplication of part of the kidney; a feature which also requires surveillance only.
ENT problems & interventions: 61.6% of enrolled girls have had recurrent ear infections and/or hearing impairment, often requiring surgical treatment, for example, insertion of grommets or removal of adenoids.
Associated physical features: We chose 14 physical features which can be seen in TS such as neck webbing, wide carrying angle and high arched palate and scored them according to severity. Using our scoring system only 16.3% of enrolled girls were judged to have pronounced physical features.
Adverse Events: No significant adverse events have been reported; in particular, there have been no reports of voice deepening or enlargement of the clitoris which have previously been reported with higher doses of Ox.
Compliance & retention: Difficulties in attending clinic regularly & collecting medication have been reported in 7 girls, 4 of whom have withdrawn, leaving 98 girls participating.
A large proportion of this group has had ENT problems. This should be considered a useful diagnostic marker, alerting clinicians to the diagnosis in any short girl, even in the absence of pronounced physical features. Also, clinicians should be aware of this potential clinical complication in TS patients and we need to consider ways in which this area of care could be improved.
The fact that a quarter of girls in this group has a cardiac problem and a fifth has a renal problem illustrates the need for systematic examination following the diagnosis. It should be emphasised, however, that serious problems are rare.
This study is already providing useful clinical information on a large group of UK girls with TS. It suggests ways in which diagnosis could be improved and highlights potential problems which should be considered in any patient with the diagnosis of TS. Once completed, the study will help answer a long-standing question about the efficacy of Ox and guide the clinician as to the optimal age at which to induce puberty.
Once FH data is available, recommendations can be given as to optimal growth promoting treatment for TS. In the meantime, patients currently receiving Ox, E2 or GH in the doses used in this study can be reassured as to their safety record.
Data will continue to be collected until FH is reached. The BSPED is also planning UK Turner Study II of hormone replacement in adolescents after the completion of pubertal induction.
Many thanks to the girls with TS and their families throughout the UK for generously agreeing to take part in this study.
Professor David Skuse writes
As you may know, many symptoms of Turner syndrome are due to the fact that women with the condition are short of two complete X-chromosomes. There are about 1000 genes on the X-chromosome, but which of them is needed in two copies for normal development remains unclear. David Skuse and colleagues at the Institute of Child Health in London, and his collaborators at the Massachusetts Institute of Technology in Boston, USA, have found a gene that probably plays an important role in how women with Turner syndrome deal with social situations. This is only the second gene to be discovered that contributes to the features associated with the condition. Interestingly, the gene has no impact on general intelligence or abilities, but it seems to be particularly important for processing social information. Before we can publish our results in a scientific journal, we need to check our discovery is correct by seeing a new group of women with 45,X Turner syndrome. We need volunteers to do some simple and brief tests (about 45 minutes) and to give us a DNA sample (in the form of a mouth brush of cheek cells). If you have 45,X Turner syndrome (i.e. you do not have mosaicism) and could help us with this important investigation please contact Professor David Skuse, either by email (dskuse@ich.ucl.ac.uk) or by telephone (0207 831 0975). Thank you.
The Answer web site is an Antenatal Screening web Recourse. Please do log on and have a look at this excellent site at www.antenataltesting.info
Answer offers pregnant women and their partners:-
Information about the screening and diagnostic tests available in pregnancy.
Information about some of the conditions that might be detected by antenatal tests.
Personal testimonies from individuals and their families directly affected by these conditions.
Links to support groups and other useful websites
Shopping, hanging out with friends and so much more.
by Melanie
Turner syndrome is not just about growth and development, it is a lifelong condition, and my story could be a cautionary tale in what can happen when girls with TS are discharged from the care of Paediatric experts as they become adult.
As I was growing up my height fell behind other children my age, and although my family were all tall people by the time I was ten I was the smallest person in my class. My mother particularly noticed this as my best friend at the time was the second tallest girl in the entire primary school! At that time she must have been a good foot taller than I was.
My short stature was investigated and I was diagnosed with TS at the age of 11 and referred to a paediatric growth clinic. The major concerns at that stage (quite rightly) were growth and puberty. Developing properly and being like all my friends was also the most important thing for me personally. I was treated with low levels of oestrogen and progesterone which to my great delight was quickly effective in putting me through puberty. Being small was my other great concern and I was eager to try growth hormone treatment when it came in a couple of years later. This was in its early days, before pen delivery systems and involved injecting myself with a hypodermic six days a week for eighteen months – ow!
Whilst I was still a child I was treated by the paediatric system; by specialists in the endocrine and growth fields. However, when I reached 17-18 and was discharged from the paediatric clinics the feeling was that, now my final height and puberty were achieved there was no real need for further monitoring or changes in treatment. The main long-term concern I knew about then was the inability to have children, and there did not seem to be a lot to be done about that (not then anyway, although with advances in IVF, much more is possible now). I was never referred to an adult specialist, simply discharged into the care of my GP, for prescription of my existing treatment, which was a pill based hormone preparation. For some years I just continued taking the same pills and going to my GP periodically for a repeat prescription.
Fortunately for me I have a mother who just happens to be a paediatrician herself, and she became concerned that I was receiving no expert follow up. At her suggestion I joined a study into bone densities and treatment for women with TS. When my first ever bone density was done I was horrified to discover that at 23 I had the bone density of someone of fifty, and at the worst point my bones were not far above the fracture level!
I rapidly changed treatment onto a proper HRT preparation (as opposed to the contraceptive pill based treatment I had been on before). Over several years, with regular expert monitoring and adjustment of my treatment, my bone density came within normal range.
When the bone density study ended I was again discharged back to my GP, albeit on a much more suitable treatment preparation. I was determined not to let the same thing happen again with my treatment. I wanted to be treated by specialists and when an adult TS clinic was started at Addenbrook’s Hospital in Cambridge I requested a referral.
At the Addenbrook’s Clinic I have access not to only bone density monitoring but echocardiogram, thyroid function tests and even hearing tests. Fortunately for me the echocardiogram was clear, but the thyroid function tests showed that I was developing mild thyroid deficiency, and I have now been put on thyroxin treatment as well.
What my experiences show is that it is easy for a girl with TS who has been treated by paediatricians up until her late teens to fall into a ‘black hole’ when they reach the age and stage to be discharged from paediatric care. It is easy to consider that growth and puberty are the only issues that need to be addressed and further ‘specialist’ care and treatment changes are not needed.
But TS if it is anything is a lifelong condition, and the medical needs change over time. Had I remained simply on the same old treatments, I would be well on the way to developing osteoporosis and possibly serious thyroid problems as well. And TS, can in some people, be linked with a range of other problems also. It is therefore important that girls with TS do not let themselves fall into that ‘black hole’. If a referral to an adult specialist is not suggested then make sure that you suggest it yourself. clinics are now being set up for your benefit, so make sure you take advantage of them.
By Lisa
A lot of women with TS will remember that feeling when they are told that they are too old for the children’s clinic. From personal experience I can remember being told that at sixteen that was it – there was nowhere to refer me on to, so from that time to the age of 21 I went unmonitored.
At 21 my GP referred me to a doctor in the local fertility clinic, he took me off the pill and put me on HRT and told me to come back when I wanted to start a family. I was a bit stunned and was left unmonitored for a further 10 years.
In 1998 as part of the IVF process I had to undergo a MRI scan. I was told everything was normal and was healthy enough to go through with the treatment (but that’s another story).
It was the year 2000 while at Blackpool for the conference that I discovered that there was an adult clinic in Hull, my hometown and on my return I went to my GP and asked for a referral. The clinic had been held earlier that month so it was October of the following year that I got an appointment. Dr Atkin was brilliant and I had a lot of tests done like thyroid, bone density and kidney function.
On my next appointment (October 2002) I was sent for another MRI scan which came through in January 2003. I went along and never thought any more about it until I received a letter with an appointment to see another doctor the following week. The letter asked me not to come alone, and to bring a friend or a family member which of course immediately started alarm bells ringing but I did not unduly panic. I had never heard of this doctor and it was at a totally different hospital to any of my previous tests or appointments and I knew I had another appointment for the TS clinic in a few weeks.
My husband Les came with me to the appointment as he had an inkling something was wrong (but he didn’t tell me until after the appointment). When I met the doctor I was told that the MRI had shown that I have an enlarged aorta measuring 3.5cm whereas an average width is 2.3cm. The doctor said there was no need to take any immediate action but it needed to be monitored. If the size increased to between 4 & 5cm then I would be offered an operation to replace the valve and pipe. In the meantime I would be fine and should look out for symptoms like breathlessness. I will now be having MRI scans annually to monitor the condition.
I cannot say this upset me but I was shocked. I hope that by telling this story all the ladies reading this will realise the importance of the adult clinics. I know that Angela worked tirelessly on this and that Pat is continuing her good work.
To be blunt having this MRI has almost certainly saved my life. I feel that’s reason enough to give one hour of your life each year to go to an adult clinic so come on ladies get off your butts and get referred. You won’t regret it.
Ed’s note – Thank you Lisa for sharing your story, a salutary lesson to us all - doctors and those with TS alike.]
[Ed’s Note : the following is an extract from an article which appeared in the May 2004 Turner Syndrome Association of Australia Newsletter and is reproduced with the kind permission of Psychologist Amanda Wheeler and TSAA ; a copy of the full article can be obtained via the Editors].
TIP : All of these strategies can be used from Day 1 with your child.
Spend one-to-one time with your child regularly and remember it does not have to be long periods of time to be effective.
Talk to your child using good communication skills eg. Eye contact, getting down to their eye level, calm voice and simple language.
Show your child affection through physical touch eg. Hugging, massage and tickling.
TIP : Emotions themselves are not negative. It is the expression of the emotion that can be negative.
Label and identify the emotion that your child is feeling eg. Sad, frustrated, happy or excited.
Encourage children to use their words to explain their feelings eg. “I am sad that Josie does not want to share her toy with me”.
When they are dealing with emotions appropriately identify it for the child and praise them.
Help them to look at different ways they can express their emotions in a constructive manner eg. If sad, they can try and ask their parent for a cuddle.
TIP : Use plenty of praise and encouragement.
Break a big task down into small steps and allow your child to do each step one at a time with you.
Role play and rehearse using toys, puppets and dolls.
Draw up a list of what needs to be done and when.
When your child comes to you with a problem, ask them to develop some possible solutions and then work out the best one.
Discussing the situation with your child and what they can do differently in the future.
TIP : Preparation and planning can help eg. Talking to your child about what is about to happen and having any supplies you might need on hand.
Praise your child regularly for their specific behaviour at the times the child is behaving eg. “that’s great you have picked up the toys”.
Have suitable activities for your child’s age and interest to stimulate them and keep them busy.
Set a good example to your children.
Use a Behaviour Chart for a specific behaviour you wish to encourage eg. Staying in bed.
Have routines that are clear and consistent for your child.
The Society has produced an information leaflet for women with TS who do not attend a specialist TS Clinic. The leaflet is for guidance only but outlines the health checks that women need and the time span for these checks.
We know that many women with TS are still only seen by their GP and with the best will in the world GPs cannot be expected to know everything about TS, the possible treatments and the checks which every woman with TS should be having throughout her life.
This situation has arisen because not so much was known about TS and once a young girl reached 16 she was signed off to her GP and more often than not told to come back when she wanted to have children!
Sadly, although much more is known about the condition now and more health issues related to TS have come to light, there are still women who do not know that there are specialist TS clinics around the UK and more importantly the health checks they should be having. GPs also need to know this and the leaflet has been designed for both patient and GP so that an informed decision can be made about future care.
On page 15 you will find a list of information available from the Society including this leaflet and how to obtain it. If you think you should be having these checks and are not or if your daughter is about to leave paediatric care then this leaflet is for you and your GP.
The leaflet also contains a list of the specialist TS clinics currently available. There are not as many of these clinics around the country as we would like but we are working with clinicians to try and set up more.
Our aim is that eventually every woman with TS will be able to obtain the specialist care she needs for a healthy life. We will keep you updated on this issue in future editions of ASPECTS. If you need further advice or information please contact the TSSS office.
Home | What is TS ? | Information | About Us | Links | Latest News
All web pages copyright © TSSS(UK) unless otherwise stated. Please read our copyright and disclaimer page