Special Needs Children: Down Syndrome

Normally, each person inherits genetic information in form of 46 chromosomes, 23 from the mother and 23 from the father. However, children with DS usually have 47 chromosomes or one chromosome has an extra part. This extra genetic material is the cause of physical and cognitive delay.  The name Down Syndrome stems from the British doctor John Langdon Down, who was the first to describe the condition in the year 1887. Only in 1959, the extra chromosome was discovered to be the cause of it. Down Syndrome hits one out of every 800 babies regardless of the race or nationality of the parents. The reason why this chromosomal error occurs remains unknown. However, it is evident that 35-year-old women (or older) have a higher risk of getting a child with DS.

 

Physical, Cognitive and Medical Effects Associated with DS

Children having DS usually have a flat facial profile, an upward slant to the eyes, small ears, a single crease across the center of the palms, and an enlarged tongue. Low muscle tone and loose joints are also of their characteristics. Although, this “floppiness” can improve over time, developmental milestones like sitting up, crawling and walking are usually reached later than it is the case with other children. Low muscle tone can also lead to sucking, feeding as well as digestive problems. Delays in speech and self-care skills like feeding themselves and toilet training can also occur. The extra genetic material often leads to mild to moderate mental retardation affecting the children’s cognitive abilities. The degree of retardation varies from one case to the other. This does not mean that children with DS are incapable of learning and developing any skills. They can learn and some of them develop normal and even very special abilities. They just attain goals at a different pace. Some of them, called high-functioning, can be differentiated from other kids only by physical appearance and are very close to normal.  “Kids with DS have a wide range of abilities, and there’s no way to tell at birth what they will be capable of as they grow up[1]“ M.A. describes her nephew saying “he’s very talented. He plays music and he is independent to a great extent”.

 

Some children with DS do not have medical or health problems, but there are others who require some special medical care. Half of all children born with Down Syndrome have congenital heart defects and are prone to developing pulmonary hypertension (high blood pressure in the lungs). Medication and surgery can often alleviate or correct such problems. Furthermore, half of them have hearing and vision problems. Hearing problems can be attributed to fluid buildup in the inner ear or structural problems in the ear itself. Common vision problems include Amblyopia (lazy eye), near- or farsightedness, and an increased risk of cataracts. Fortunately, those conditions are solvable. Other health problems might include thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, an increased susceptibility to infection, and a higher risk of childhood leukemia. Again, most of these conditions are treatable.

Unfortunately, the chromosomal error of Down Syndrome cannot be reversed or totally alleviated, but it can be detected before a child is born through prenatal testing and diagnosis.

 

Prenatal Screening and Diagnosis

There are two types of tests that the mother can undergo in order to determine whether the fetus has DS or not:  Screening and diagnostic tests. According to Dr. Ismail Aboul Fotouh, Assistant Professor of Obstetrics and Gynecology at Cairo University, screening tests are relatively suspicious, as they are nonconclusive and have 80 to 85% sensitivity.  Nevertheless, they are important in indicating whether further diagnostic tests should be performed or not. Diagnostic tests are almost 100% accurate, but they have a 1% risk of miscarriage or preterm labor.

 

Screening Tests:

• Nuchal translucency testing: Through ultrasound, the doctor measures the clear space in the folds of tissue behind a developing baby’s neck. In babies with DS (and other chromosomal abnormalities), this space is larger than usual, as they tend to accumulate more fluid. This test is usually performed between the 11^th and 14^th week of pregnancy. Combining the result of this measurement with the mother’s age and the baby’s gestational age, the risk of a baby’s having DS is calculated.
• The triple screen (multiple marker test): Performed between the 15^th and 20^th weeks of pregnancy, these tests measure the quantities of various substances in the mother’s blood, and together with the woman’s age, gives a risk ratio indicating whether or not the fetus has Down Syndrome can be estimated. It’s important to understand that a "positive" or abnormal result doesn’t necessarily mean that the baby has a problem. In fact, only about 10 percent of women with abnormal results have babies with birth defects[2].
• A detailed ultrasound: This checks some of the physical traits associated with DS in conjunction with the blood tests.

 

Diagnostic Tests:

• Amniocentesis: A small sample of the amniotic fluid is taken through a needle inserted in the abdomen to detect if there are any chromosomal abnormalities. It is performed between the 16^th and 20^th week of pregnancy.
• Chorionic villus sampling (CVS):  By inserting a needle in the abdomen a sample of the placenta is taken. It is usually conducted between the 8^th and 12^th week of pregnancy.

 

After the delivery of a child, a physical exam of the baby can usually show whether a baby has DS or not. Further chromosomal studies can confirm the results of the physical exam.

EARLY INTERVENTION

When discovering that their child has Down Syndrome, parents are usually affected by the feelings of grief, shame, fear, guilt and even loss of the perfect child that they have been dreaming of. This is perfectly normal and even healthy, as after the initial shock is over, out of these feelings of despair and dismay, a sense of hope develops, provided parents reach the conclusion that they should not give up. Amina, mother of Walaa, tells her experience saying “I just couldn’t face it or face anyone. I didn’t even know what DS was, and I couldn’t tell my children and family”[3]. This turmoil soon gave way to hope, when Amina realized Walaa was responding positively to treatment. “I started to hope that, with more effort, Walaa could be as close to normal, as possible. I decided to treat her as a normal child. I never hid her, and I believe contact with people helped her develop a lot”. Walaa is now attending a private school and she has already started vocational training so that she could find a job later and become a productive member in society. She won a gold medal in basketball and is attending swimming classes.

 

Walaa’s success story strongly underlines the fact that parents should never give up if they find out that their child has a disability. Parents of children with DS should always try to learn as much as they can about this disability and enroll their kids in therapeutic programs as early as possible, e.g. speech and physiotherapy. In addition, medical intervention needed should never be neglected. “Many cases die due to neglect, and many others develop severe retardation”[4], Dr. Mohamed El-Sawi, Professor of Pediatrics and Genetics at Ain Shams University, points out. He further states that families should create as normal life situation as possible for the child, however, “what happens is that most parents are ashamed. They lock the child up and hide him away from people, which negatively affects the child’s mental and physical health”. Without parental cooperation, early intervention services might be ineffective. 

 

Early detection of Down Syndrome problems can prevent impairment from becoming a disability. It can also help minimize the degree of the existing disabilities and save the trouble of developing new ones. Early intervention programs, medical, surgical or cognitive, make children with Down Syndrome undergo important experiences aiding them in reaching their maximum potential and become productive members of society.

 

In Egypt, early intervention services are increasing nowadays, but there is no integrated system linking institutions together, nor doctors with institutions.  “There is help for those who seek it, but there should be outreach programs for those who are unaware that help is at hand” [5].