WHAT IS DOWN’S SYNDROME?
Down’s syndrome is the most common disorder of the human chromosome. It results from the presence of an extra chromosome, in some or all body cells. People with Down syndrome may share some physical and mental features. However, the symptoms can vary from mild to severe. Children with Down’s syndrome grow and learn more slowly and may have a variety of health challenges. It is present in 1 out of every 800 live births.
The condition was first described by an English doctor, Dr. John Langdon Down, for whom the syndrome is named. Down’s syndrome is also called Trisomy 21.
Very importantly, early intervention, improved medical care, parent education and increased social acceptance results in children with Down’s syndrome having better skills and higher levels of functioning.
FEATURES OF DOWN’S SYNDROME
- Floppiness due to decreased muscle tone ( soft muscles)
- Flat nasal bridge
- Small nose and mouth with tongue appearing large
- Eyes that slant upwards and outwards, with extra skin in the middle corner (epicanthic fold)
- A big space between the first and second toe (sandal gap)
- A single crease across the palm (palmar crease)
- Below average weight and length at birth
- Short broad hands
- Short 5th finger which curves in
WHAT CAUSES DOWN’S SYNDROME?
The human body is made up of cells. Each cell usually contains 23 pairs of called chromosomes (threadlike structure which carries genes). Half of these are inherited from the mother, and the other half from the father. These pairs of chromosomes are numbered (23 pairs) and each person should have a total of 46 single ones.
In persons with Down’s syndrome however, the 21st set (pair) of chromosomes have three instead of two, resulting in the total of 47 chromosomes. The true cause of Down’s syndrome remains a mystery. This condition may affect anyone, and although a woman’s chance of having a child with Down’s syndrome increases with age, two-thirds of all children with this condition are born to mothers under the age of 35 years.
HEALTH CARE ISSUES
Children with Down’s syndrome may face a number of different health care issues. Some children may suffer from none of these medical conditions, others from only some of them, and others from all. Each child is an individual and as such will be unique with respect to their medical problems. Some of these issues may present at birth whilst others may occur throughout their lives. These health care issues are as follows:
- Heart disorders: These occur in about half of babies born with Down’s syndrome. Some of these defects may be mild and not require surgery, whilst others are more severe and require surgery to fix the problem. For this reason, it is recommended that soon after birth an echocardiogram (ultrasound of the heart) be done to take a look at the heart.
- Digestive difficulties: Children with Down’s syndrome are more likely to have problems such as constipation, diarrhoea and frequently bring up their feeds. These babies may also have difficulty feeding due to their small mouth and smooth, flat tongue. However as they grow they are better able to control their tongue and this will make feeding easier.
- Dental and oral concerns: Teething in children with Down’s syndrome tends to occur later on in life, with the first tooth usually appearing at about 12-24 months of age. A lot of children with Down’s syndrome will have missing teeth.
- Hearing: Three-quarters of children with Down’s syndrome experience hearing problems at some point, so it is important that hearing tests be performed regularly in both the early months of life and throughout childhood.
- Vision: Children with Down’s syndrome are more likely to suffer from problems with eyesight. This will make it more difficult for them to learn. It is therefore important that they have a routine eye test at least once a year throughout childhood. Most of these problems may be corrected with glasses.
- Infections: Children with Down’s syndrome are at an increased risk for developing infections. Common sites for infection include: bladder, throat, tonsils, teeth, middle ear and skin. The usual immunization schedule is recommended and will help to protect from some diseases.
- Thyroid dysfunction: There is an increased chance of children with Down’s syndrome having low levels of thyroid hormone. Signs of low thyroid hormones (hypothyroidism) include: feeling tired or cold, hair loss, constipation, dry skin, hoarseness of the voice and poor growth.
- Blood disorders: Children with Down’s Syndrome are at increased risk for blood disorders such as leukaemia.
- Epilepsy: Children with Down’s syndrome are more prone to having seizures / “fits”. This may be treated with medication .Response to treatment is usually good.
- Cervical spine instability: The bones in the upper part of the neck are sometimes found to move more than usual. Signs of this include: holding the head to the side, neck pain, weakness, breathing changes, difficulty walking, unsteadiness and loss of ability to control bladder and bowel movements.
- Breathing difficulties: Children with Down’s syndrome have smaller than usual air passages in the nose, mouth and chest. This can result in breathing problems such as snoring and mouth breathing, which can in turn cause problems with the teeth.
ADJUSTING TO YOUR BABY
When faced with the news that their baby has Down’s syndrome, most parents share common feelings. These include: shock, disbelief, sorrow/grief, protectiveness, revulsion, inadequacy, embarrassment, anger and guilt. With time, the majority of parents have been found to adjust remarkably. Take one day at a time. Do not expect total acceptance. It is natural to have bad days. It is important to share feelings with your partner, support each other and try and arrange to spend time together. Explain to siblings as much as their age will allow about Down’s syndrome. Spend special time with ALL your children. Include ALL your children in family activities. Treat ALL your children fairly so as not to create jealousy. Help other children cope if being teased about a sibling with Down’s syndrome. Involve grandparents, other relatives and friends. Remember you are not alone! ￼￼￼￼￼￼
For further information and support, please contact Jamaica Down’s Syndrome Foundation Limited at 968-3273 or 495-7491.