- What Is Down’s Syndrome?
- Types of Down’s Syndrome
- Risk Factors of Giving Birth to a Child With Down’s Syndrome
- Growing Up With Down’s Syndrome
- Symptoms of Down’s Syndrome
- Screening for Down’s syndrome
- Characteristics of Down’s Syndrome
- Treatment for Down’s Syndrome
- How to Prevent Down’s Syndrome
- Diagnosing Down’s Syndrome
- Caring for a Child With Down’s syndrome
- Baby Health Care Tips
- Down’s Syndrome Growth Charts for Children
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Pregnancy screening tests have now made it possible for a couple to know if their baby is at risk of having Down’s syndrome. While the news that your child may be born with the condition is saddening, it is important to understand the various problems that children with Down’s syndrome experience and how to tackle them effectively.
What Is Down’s Syndrome?
Down’s syndrome is a genetic condition where the child is born with an extra copy of the 21st chromosome. This extra chromosome alters the course of development of the child, mentally and physically. As per DSE (Down’s Syndrome Education International), this condition affects between 1 in 400 to 1 in 1,500 babies born, the frequency varying from country to country.
Types of Down’s Syndrome
There are many different types of Down’s syndrome that can affect children. It is important that you educate yourself about them and identify early signs of Down’s syndrome in infants. The types of Down’s syndrome include:
1. Trisomy 21
Trisomy 21 accounts for 95% of the cases of Down’s syndrome. In Trisomy 21, an anomaly in cell division called “non-disjunction” results in 3 copies of chromosome 21 in the embryo.
This happens during or before conception, where the pair of the 21st chromosome fails to separate in either the sperm or the egg. This additional chromosome gets replicated in all the cells of the body.
Mosaicism is found in only about 1% of all Down’s syndrome cases. It is a condition where there is a mixture of both – normal cells having 46 chromosomes, and abnormal cells having 47 chromosomes. The cells having 47 chromosomes have an extra copy of chromosome 21.
Translocation can be found among 4% of Down’s syndrome cases. Here, a part of chromosome 21 breaks off and gets attached to another chromosome. The presence of this extra full or partial chromosome 21 causes the disorder.
Risk Factors of Giving Birth to a Child With Down’s Syndrome
Certain circumstances can add to the risk of giving birth to a child with Down’s syndrome. Major risk factors include:
1. Advancing Maternal Age
Researchers believe that older women are at a higher risk of conceiving a baby with Down’s syndrome. This is because the eggs of older women have a greater risk of undergoing improper cell division.
The chart, as per National Down’s Syndrome Society (NDSS), can be described as follows:
- Women pregnant at 30 have a 1 in 1000 chance of giving birth to a baby with Down’s syndrome
- Women pregnant at 35 have a 1 in 400 chance of giving birth to a baby with Down’s syndrome
- Women pregnant at 42 have a 1 in 60 chance of giving birth to a baby with Down’s syndrome
- Women pregnant at 49 have a 1 in 12 chance of giving birth to a baby with Down’s syndrome
2. Carriers of Genetic Translocation
Down’s syndrome can be passed on to babies by both the mother and father if either of them is a carrier of the genetic translocation. A carrier of a disease or medical condition does not suffer from the disease or medical condition but carries a ‘faulty’ copy of the gene responsible for causing it. When such a person becomes a parent, chances are that the child may suffer from the disease, or become a carrier, just like the parent.
3. Having a Child With Down’s Syndrome
Parents who already have a child with Down’s syndrome or are themselves carriers of some chromosomal anomaly are at a higher risk of having another baby with Down’s syndrome.
Babies born with Down’s syndrome tend to have several health complications:
- Heart Defects
About half the infants born with Down’s syndrome have some kind of congenital heart defect. Some of these defects can even be identified during prenatal ultrasounds. The baby may undergo regular echocardiograms for the initial three months if a heart defect is detected.
- Gastrointestinal Defects
The baby with gastrointestinal defects may face abnormalities in:
- Intestines – leads to severe vomiting
- Oesophagus – causes frequent choking if improperly connected with the windpipe
- Anus – A closed anal opening. One such condition is Hirschsprung disease, where the intestinal nerve makes it difficult to expel stools. It affects 2 to 15% of infants with Down’s syndrome
The baby may also develop digestive problems like gastrointestinal blockage and heartburn (Gastroesophageal reflux) or celiac disease.
- Immune Disorders
Babies with Down’s syndrome are at a higher risk of developing autoimmune disorders that may lead to an abnormality in the immune system. This means that they have a higher chance of contracting contagious diseases than normal children their age.
- Eye problems
A majority of the infants with Down’s syndrome face some kind of eye problem, which ranges from mild (blockage in tear ducts) to serious (cataract) problems. It is recommended that the child be taken to see a pediatric ophthalmologist once every one or two years.
- Hearing loss
Infants with Down’s syndrome may be prone to ear infections as they may have comparatively narrow ear canals.
- Sleep Apnea
Children with Down’s syndrome do not have well developed soft tissues and skeletons. This can obstruct their airways, making it harder for them to breathe. As they cannot take in enough oxygen, sleep gets affected and can result in discomforts such as sleep apnea. Sleep apnea is a disorder where affected individuals find it hard to breathe during sleep, resulting in shallow breaths or intermittent pauses between breaths.
Children with Down’s syndrome are at a greater risk of obesity as compared to normal children.
- Spinal problems
The child may have a misalignment of the top 2 vertebrae in the neck, which puts a risk of serious injury to the spinal cord by an overextension of the neck.
The child is at an increased risk of developing Dementia and Alzheimer’s disease as he/she advances in age.
- Malfunctioning thyroid
About 10% of babies with Down’s syndrome have a malfunctioning thyroid gland.
The health problems mentioned above may sound severe, but these can be treated with proper attention and care. You should remember that the life expectancy of people with Down’s syndrome has increased tremendously to over 60 years as compared to earlier times.
Growing Up With Down’s Syndrome
The life of a child growing up with Down’s syndrome can be filled with interesting opportunities for playing, interacting and moving in their initial years of life. With age, they excel in all areas and develop the confidence to interact with people.
Children with Down’s syndrome have individual interests, strengths, talents and needs, just like other ordinary people. Each child develops at a different rate and in a different way by being supported and socially included in their schools, families and communities.
Their personalities can be unique. They may be calm or anxious, sociable or shy, and easy to manage or difficult to manage. They may score from mild to moderate in intellectual areas, but you may often be overwhelmed by the child’s insight, creativity and cleverness.
With understanding and support from communities, young adults with Down’s syndrome also excel in areas not expected of them. They hold meaningful jobs, manage their own households well and equally contribute to the communities they live in. Quite often, they face challenges, which they overcome in ways that can inspire others.
Symptoms of Down’s Syndrome
There are no specific symptoms to indicate that you are carrying a child with Down’s syndrome. It may be estimated by certain screenings during the early stages of pregnancy. These include:
Screening for Down’s syndrome
Screening tests are aimed at providing an estimate of the likelihood of the foetus having Down’s syndrome. These are cost-effective as well as easy to perform, and help the parents in deciding whether to conduct diagnostic tests.
Screening tests comprise of:
1. Nuchal Translucency Testing (NTT)
- This test is performed between 11 to 14 weeks of pregnancy.
- An ultrasound measures the clear space in the folds of tissue behind the developing baby’s neck (A baby with Down’s syndrome has fluid accumulated in this space, making it appear larger than usual).
- This test is generally followed by a maternal blood test.
2. Triple Screen/Quadruple Screen
- Also termed as a “multiple marker test”, this test is performed between 15 and 18 weeks of pregnancy.
- This test measures the quantity of normal substances in the mother’s blood.
- Triple screen tests for 3 markers whereas quadruple screen tests an additional marker.
3. Integrated Screen
This screening combines the results obtained from the first-trimester screening tests (with or without NTT) and blood tests from the second-trimester quadruple test, thus providing parents with the most accurate results.
4. Genetic Ultrasound
- This test is performed between 18 to 20 weeks.
- A detailed ultrasound along with blood tests checks the foetus for any physical traits or anomalies concerned with Down’s syndrome.
5. Cell-free DNA
- This is a blood test that analyses the foetal DNA found in the mother’s blood.
- It is performed during the first trimester.
- This test detects trisomy 21 accurately.
- The test is specially prescribed for women with a high risk of conceiving a baby with Down’s syndrome.
Children born with Down’s syndrome tend to have symptoms that can be seen in their early stages only.
Early signs of Down’s syndrome in infants can be identified by the features listed below:
- Flat face
- Small head
- Protruding tongue
- Short neck
- Upward slanted eyes
- Unusually shaped ears
- Single crease in the palm
- Poor muscle tone
Characteristics of Down’s Syndrome
Babies having Down’s syndrome can display a full range of emotions. They can be creative, imaginative and exhibit certain physical attributes as follows:
- Low muscle tone: the condition is also termed as Hypotonia, where baby feels limp
- Short height
- Short and wide neck having excess fat and skin
- Single palmar crease i.e. single crease across the palm
- Short arms and legs
- Wide space between the big toe and its adjacent toe
- Almond-shaped, upward slanted eyes
- A pushed-in look of nasal bridge i.e. the flat area between nose and eyes
- Irregular or crooked teeth, which may come late and in different order
- Small ears set low on the head
- Protruding tongue
- Irregularly shaped mouth, where upper palate of the mouth has a downward curve
Treatment for Down’s Syndrome
The treatment generally depends on the child’s physical ailments and the intellectual challenges faced at different stages of life.
- About 40 to 50 per cent of newborn babies with Down’s syndrome have heart defects.
- Newborns should have their hearts checked through electrocardiogram and echocardiogram. If any heart defect is found, the baby should be referred to a paediatric cardiologist.
- Infants may face difficulty in swallowing, blockage in their bowel movement, eye problems such as cataracts, or crossed eyes. Proper and timely surgery may treat these problems.
- Low thyroid levels are quite common among infants. Hence, yearly thyroid tests need to be performed.
Early childhood concerns
- Children may be affected by frequent cold, sinus and ear infections. Such cases require early and aggressive treatment.
Most of the children require speech and physical therapies to enhance their development as they grow. Later on, they may need occupational therapy, which would help them learn job skills and live on their own.
How to Prevent Down’s Syndrome
Research suggests 3 primary prevention strategies:
1. Folic acid supplementation
Studies indicate that there may be a link between Down’s syndrome and neural tube defects. Folic acid supplements help prevent the occurrence of neural tube defects in babies as well as reduce the risk of developing Down syndrome.
2. Avoiding reproduction at an older age
Women above 35 have an increased risk of giving birth to babies with Down’s syndrome.
3. Genetic diagnosis
It’s recommended that couples who are at high risk of conceiving a child with Down’s syndrome go through a pre-implantation genetic screening.
Diagnosing Down’s Syndrome
Diagnostic tests are accurate in detecting whether the foetus has Down’s syndrome condition. These are invasive tests performed inside the uterus and carry a high risk of miscarriage, preterm labour and fetal injury. Hence, these tests are mostly recommended to women aged 35 and older or to those having abnormal results from screening tests.
Diagnostic tests include:
1. Chorionic Villus Sampling
- This is performed between 8 and 12 weeks.
- A tiny sample of the placenta is obtained through a needle inserted into the cervix or the abdomen.
- This is performed at 15-20 weeks.
- This involves the analysis of a small amount of amniotic fluid obtained from a needle inserted into the abdomen.
3. Percutaneous Umbilical Blood Sampling
- This test is performed after 20 weeks.
- This involves the analysis of a sample of blood from the umbilical cord obtained through a needle inserted into the abdomen.
Down’s syndrome is diagnosed even after birth by certain physical characteristics. A blood or tissue sample is stained to check the chromosomes grouped by number, shape and size.
Caring for a Child With Down’s syndrome
Raising a child with Down’s syndrome is challenging as well as rewarding. Your path may be different from other parents, but the journey will give you countless memories and fill your life with unconditional love.
- Enquire about early intervention programs for your child to join in, where they will be offered special programs and stimulation to develop language, motor, self-help and social skills.
- Be socially active as that will help the child grow socially and give him or her encouragement to participate in various activities.
- Encourage your child to be independent. With your support and some practice, your child will learn to handle daily tasks such as dressing, managing hygiene, packing, cooking and doing the laundry.
- Your child will reach all the growth milestones i.e. rolling, walking and talking, but at a delayed pace as compared to others. It’s important that you focus on their development sequence and not age.
- Expect a bright future for your child as they can live equally fulfilling lives as their peers.
Baby Health Care Tips
Babies with Down’s syndrome require extra care. It is important to regularly monitor their growth.
Babies with Down’s syndrome require exclusive breastfeeding so that their immune systems develop well.
Babies with Down’s syndrome may take time in learning how to suck, chew and swallow. Weaning may hence be delayed.
Babies with Down’s syndrome suffer from dry skin. You may gently massage with oil or moisturising cream every day.
- Temperature control
Babies with Down’s syndrome face problems in regulating their body temperature and may get too cold or overheated quickly. It is recommended to dress them appropriately.
- Heart problems
If the baby is breathing is too fast, it is important that this is monitored and acted upon immediately.
- Thyroid levels
Thyroid hormone levels may be too low in babies with Down’s syndrome, which can, in turn, lead to a number of other problems/complications. It is advisable to regularly have blood tests for thyroid done every 6 months or 1 year.
- Stomach or bowel issues
Any discomfort leading to spitting up, swelling of the stomach or abnormal stool pattern are warning signs that need to be looked into.
Down’s Syndrome Growth Charts for Children
Children with Down’s syndrome generally differ in their growth patterns as compared to normal children. Previous health charts can assist healthcare providers to monitor the growth of children with Down syndrome and keep a record of how well the child is growing as compared to peers.
As per National Down’s Syndrome Society (NDSS), the results listed below describe the average growth of Down’s syndrome children from 0 to 3 years:
Range for Boys:
|18 inches to 21.5 inches at birth||6 to 8.5 pounds at birth|
|27 to 30 inches at 1 year||15.5 to 21.5 pounds at 1 year|
|30.5 to 34 inches at 2 years||20 to 27.5 pounds at 2 years|
|33 to 37 inches at 3 years||23.5 to 32.5 pounds at 3 years|
Range for Girls
|18 to 20.5 inches at birth||5 to 8 pounds at birth|
|26 to 28.5 inches at 1 year||14 to 19 pounds at 1 year|
|30 to 32.5 inches at 2 years||19 to 25 pounds at 2 years|
|32.5 to 36 inches at 3 years||23 to 30 pounds at 3 years|
While a child with Down’s syndrome may need extra care and attention, he or she is by no means less cherished than a normal child. Addressing the baby’s needs without resentment, or without any feeling of helplessness or pity for yourself or the child, will ensure the development of a healthy individual.