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A Guide for Parents
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THE CHILD GROWTH FOUNDATION
Registered Charity No. 274325
2 Mayfield Avenue
London W4 1PW
Telephone: +44(0)20 8995 0257 / 8994 7625 Fax: +44(0)20 8995 9075 Email: firstname.lastname@example.org www.heightmatters.org.uk
GROWTH AND GROWTH DISORDERS – SERIES NO: 8(REPRINT JUNE 2003).
Written by Dr Richard Stanhope (Gt. Ormond Street/Middlesex Hospital, London) and Mrs Vreli Fry (Child Growth Foundation)
CGF INFORMATION BOOKLETS
The following are also available:
1. Growth and Growth Disorders
2. Growth Hormone Deficiency
3. Puberty and the Growth Hormone Deficient Child
4. Premature Sexual Maturation
5. Emergency Information Pack for Children with Cortisol and GH Deficiencies and those Experiencing Recurrent Hypoglycaemia
6. Congenital Adrenal Hyperplasia
7. Growth Hormone Deficiency in Adults
8. Turner Syndrome
9. The Turner Woman
10. Constitutional Delay of Growth & Puberty
11. Multiple Pituitary Hormone Deficiency
12. Diabetes Insipidus
14. Intrauterine Growth Retardation [including Russell Silver]
15. Thyroid Disorders
NB: To order a single copy, send an A5 SAE envelope to the Child Growth Foundation:
For multiple copies obtain quote from the CGF These booklets are supported through an unrestricted educational grant © from Serono Ltd., Bedfont Cross, Stanwell Road, Feltham, Middlesex TW14 8NX, UK. Tel. 020 8818 7200 CONTENTS Page Introduction 4 What is Turner Syndrome? 4 How is Turner Syndrome Diagnosed? 5 Mosaicism 5 When is Turner Syndrome Diagnosed? 6 Diagnosis in the Young Baby 6 Infancy and Childhood 7 Sleeping 7 Feeding 7 Hearing & Vision 7 Growth 7 Behaviour 8 Co-ordination 8 Schooling & Development 8 Adolescence 9 Growth 9 Treatment 9 Puberty 10
Further Information 15
TURNER SYNDROMEThe lack of, or abnormality of, the second X chromosome produces Turner Syndrome.
It effects only girls. They are likely to be short and lack ovaries that function correctly.
There are other physical features that are common to the condition, but rarely do all occur together in one child.
INTRODUCTIONThis booklet is written for parents of children with Turner Syndrome who wish to know more about the condition. There are two booklets about Turner Syndrome. The second booklet concentrates on Turner Syndrome in adulthood, but you will probably find it helpful to read both. The quotes that we have included in this booklet are from girls with Turner Syndrome.
“It is a problem, not your whole life”. Kylie aged 7 years For many years the Child Growth Foundation has listened to families describe what the diagnosis of Turner Syndrome in their daughter has meant to them and how it has affected them and their whole family. Hopefully, this booklet, along with support and information from their specialist, will help parents to gain sufficient knowledge to enable them to understand how they can help their daughter with any difficulties that may arise.
Some of what you read may not be appropriate for your child - it is simply our best effort to pass on the knowledge entrusted to us by parents and professionals which may help others. You will need to discuss the details of your child’s management with your specialist, as every Turner Syndrome child is an individual.
WHAT IS TURNER SYNDROME?
Turner Syndrome was first fully described by an American, Dr Henry Turner in 1938.
Turner Syndrome (TS) is a chromosomal condition affecting approximately 1 in 2,500 live female births. The diagnosis is confirmed by examination of the chromosomes from a blood sample (karyotype). Turner Syndrome is usually characterised by short stature and non-functioning ovaries leading to the absence of pubertal development and infertility.
There is no increased risk of mental retardation in Turner Syndrome girls whose intelligence spans the normal range.
The physical features associated with Turner Syndrome may include webbing of the neck (extra folds of skin); nail abnormalities; puffy hands and feet; coarctation of the aorta (constriction or narrowing of the main artery from the heart which can be corrected with surgery). Feeding problems may occur in the early childhood years and there can be learning or behavioural difficulties which may need professional help. A full list of associated features is given at the end of the booklet.
It must be emphasised that some girls may have only one or two mild features of the syndrome while others may have several easily recognised ones.
“I think doctors should be more educated about Turner Syndrome so they will be able to diagnose it earlier and give the correct information’.
HOW IS TURNER SYNDROME DIAGNOSED?
Although the diagnosis is initially based on the characteristic physical signs, it is confirmed by a chromosome analysis (karyotype). A chromosome is a string of genes present in every cell in the body. Normally, each cell has twenty-three pairs of chromosomes, making a total of forty-six chromosomes. One of these pairs, the sex chromosomes, determines the gender of the foetus, ie. will the baby be a boy or a girl? In a boy, the sex chromosomes will be an X and a Y (46XY) whereas in girls there are two X chromosomes (46XX). In Turner Syndrome there will usually be only one X chromosome instead of two, so making forty-five chromosomes in total (45X0, the 0 representing the missing chromosome). The missing X has been lost sometime during cell division from either the mother’s egg or the father’s sperm. When the X chromosome is missing in all the cells this is often described as “classical Turner Syndrome”. There are also a number of abnormalities of the second X chromosome that can produce Turner Syndrome.
Mosaicism Sometimes the second X chromosome is missing from, or is abnormal in, only some of the cells in the body but not all. This is referred to as Turner Mosaicism (46XX/45X0) as some of the cells are normal and some are abnormal. These girls often have less obvious physical characteristics, but ovarian function and height will be affected as in the classical 45X0 Turner Syndrome.
“I was diagnosed at 11 years. I was lucky because my Mum knew someone who had a daughter with TS and that helped”.
Each individual child requires her own personal assessment and advice about her management and treatment. Although it is very important that the karyotype is performed, knowing the differences in karyotypes influences treatment in only a small proportion (about 1%) of girls with Turner Syndrome. In this group the identification of a particle of a Y chromosome is essential in view of the additional risk this causes of developing an ovarian tumour. If a particle of Y chromosome is identified, the ovaries should be removed.
Apart from the non-functioning ovaries, it is important to know that the vagina and uterus (womb) are normal. However, as the ovaries will not be producing the sex hormone oestrogen, replacement oestrogen therapy will normally be required throughout adolescence and adulthood for a variety of reasons including future sexual activity, for maintaining the strength of the bones and for psychological reasons.
The chromosomal abnormality leading to Turner Syndrome is an accident which, unfortunately, can not be prevented. The cause of the missing or damaged chromosome in Turner Syndrome is not known and no risk factors eg. mother’s age, diet during pregnancy etc. have been identified. There is also no known increased risk of recurrence in any future pregnancy beyond that seen in the general population ie. 1 in 2,500 live born females. The equivalent of Turner Syndrome in boys (450Y) does not occur as survival following the loss of the X chromosome is not possible in males.
WHEN IS TURNER SYNDROME DIAGNOSED?
Diagnosis is possible at birth, or even before the baby is born. Sometimes there are features of Turner Syndrome that can be identified by ultrasound scan, the diagnosis is then confirmed through amniocentesis (removal of some of the fluid that surrounds the foetus) or chorionic villus sampling (part of the early placenta). These tests allow examination of the chromosomes of the foetus in the womb. Often, a girl with Turner Syndrome is not diagnosed until early childhood when growth progressively slows down or, even later, when puberty fails to occur. Any girl who is significantly smaller than other girls of her age should have a chromosome assessment done as the condition is relatively common.
“I was not diagnosed until 11 years.The trouble was, my Mum was small and no-one took much notice.Then my Mum persisted and the specialist diagnosed me on my second visit”.
DIAGNOSIS IN THE YOUNG BABYBaby girls with Turner Syndrome may, when they are born, have puffy hands and feet.
This is probably due to the insufficient development of the lymphatic system which drains away body fluids through small vessels under the skin. This puffiness usually disappears soon after birth, although in some girls it can remain or re-occur, occasionally in connection with the use of oestrogen treatment at puberty. There may be pronounced skinfolds at the neck which generally disappear, hut in some cases the neck is broad with more permanent skinfolds. This is referred to as webbing of the neck and cosmetic surgery may be considered. This should be in the first year of life as scarring is less severe than when the girls are older. Small spoon-shaped nails may be noticeable at birth. These can be difficult to cut but parents advise keeping them short and chiropodists can also give helpful advice. Another reason why the diagnosis of Turner Syndrome may be made in the first few months of life is finding a heart defect caused by the narrowing of the main artery leaving the heart (coarctation of the aorta). This usually requires surgery and leads to normal heart function.
INFANCY AND CHILDHOODInfancy can be a very difficult time for parents and many will find it easier to cope if the diagnosis has been made early and the problems anticipated and discussed openly with plans for how to deal with them if and when they arise.
Sleeping There are often difficulties with sleeping patterns. Young girls with Turner Syndrome seem to need very short periods of sleep and are often over active when awake.
Feeding Problems may arise with some babies because of poor sucking and, later, difficulties with chewing and swallowing. For some babies, poor sucking is due to a high arched palate and a Haberman feeding bottle may be of help. Spoons for feeding need to be small and cups which have a thick rim are helpful because they are easier to grip with the lips. Additional feeding difficulties may arise when introducing solids. A speech therapist can be of great support with feeding problems and can also help with any speech difficulties that may arise as the child gets older. Early feeding problems are very common and, although sometimes quite distressing, they do improve and do not lead to any serious disorders. Knowing this may help parents who can be understandably worried.
Hearing & Vision
The Eustachian tube, which joins the back of the throat and the middle ear allowing drainage from the ears, (it opens or “pops” when you swallow) does not work properly in many girls with Turner Syndrome. Middle-ear infections are common and hearing can be impaired. As the girls progress to Nursery School age, recurrent ear infections may become troublesome and some may require grommets which are small tubes inserted into the eardrum to drain fluid away from the middle-ear. Hearing checks need to be done regularly to make sure any hearing loss is attended to.
Eyes need to be tested for short-sightedness, squints and ptosis (drooping eyelids). A squint or ptosis in one eye will prevent the development of normal vision in the affected eye and this will need specialist care.
Growth Although girls with Turner Syndrome are born smaller than average they initially grow at a normal rate. However, at around 3 to 4 years of age, the girls may start to appear noticeably smaller than their friends. It is important to treat your daughter appropriately for her age, not her size, giving her encouragement to accept tasks and not trying to overprotect her or prevent her from taking part in challenging activities.
Behaviour Some parents have noticed that their daughters have shown difficulties in understanding instructions or ‘just don’t hear” and so hearing checks are always necessary. However, if hearing problems are excluded, try to rephrase instructions and be specific. For instance “don’t touch the cooker” may need a fuller explanation such as “don’t touch the cooker because you may burn yourself’. Also, point out the hot saucepan and flames or hotplate to support this. Instructions often need to be structured on the basis of how to complete the task required, explaining any outcome that may occur. For example “don’t do that” could mean anything when what really needs to be said is “don’t do that because...”.
Activities involving dexterity and co-ordination can need special help such as the efforts required in catching a ball, which requires co-ordination of actions of hand and eye. This is particularly shown by difficulty with fine finger movements. Practice and endless patience can improve this as they get older.
We are only too aware of the frustration of parents told many years later that their daughter has Turner Syndrome when they have been saying for years that there was something wrong. Those who look after children should listen to such concerned parents.