Down syndrome is also called “Trisomy 21” and it occurs when there is an extra chromosome (full or partial) of the number 21 chromosome. Typically, a baby is born with 46 chromosomes, but with Down syndrome, the infant has an additional copy of the chromosome 21.
The individual’s intellectual disability may vary from mild to moderate (not typically severe). The physical features are usually noted at birth and the diagnosis will be confirmed with chromosomal analysis (the baby’s genetic karyotype).
This extra chromosome changes the way the baby’s body and brain develop. Each person born with this condition will have physical, intellectual, and language challenges that are unique to the individual.
Some of these physical features are: widely spaced eyes that slightly slant upward, a small nose that is flattened at the bridge, microcephaly (small head size), low muscle tone, large tongue, short neck, small hands, and short fingers. Most children with Down syndrome are also short in stature.
Types of Down Syndrome & Common Associated Conditions
There are three types of Down syndrome: trisomy 21 (nondisjunction) accounts for 95% of cases, translocation accounts for about 3% and mosaicism accounts for about 2%. It is a Congenital disorder (birth defect) and affects Children.
Down syndrome occurs in 1 of 700 live births and is the most common genetic cause of developmental delay. Down syndrome occurs in people of all races and economic levels. The risk increases with the mother’s age (1 in 1250 for a 25 year old mother to 1 in 1000 at age 31, 1 in 400 at age 35, and about 1 in 100 at age 40). However, 80% of babies with Down syndrome are born to women under age 35 years. Translocation Down syndrome has a greatly increased risk of occurring again in a subsequent pregnancy. The exact cause and prevention of Down syndrome are currently unknown.
The degree of intellectual disability is usually mild or moderate, with less than 10% considered severely developmentally delayed. Typically, children with Down syndrome have social skills that exceed their cognitive skills.
Heart defects are common (50%) and can include atrial septal defect (an opening between the upper chambers of the heart), ventricular septal defect (an opening between the lower chambers of the heart), tetralogy of Fallot (a complex heart defect) or patent ductus arteriosus (a small blood vessel between two larger blood vessels that leave the heart which normally closes after birth).
Vision problems such as cataracts and amblyopia (“lazy eye”) occur in 70% of children with Down syndrome, and hearing problems occur in about 60%. About 10% of children will have an intestinal malformation of some type, requiring surgery to correct. Celiac disease occurs in about 15% of children with Down syndrome, and must be treated with a gluten-free diet.
Low muscle tone and loose ligaments are common with Down syndrome, resulting in dislocated hips, scoliosis, joint/muscle pain, and muscle weakness. Some children with Down syndrome (about 10-20%) will have atlantoaxial instability (AAI), a condition with loose ligaments between the first and second cervical vertebrae in the neck that can often be seen on x-ray. AAI puts them at risk of spinal cord injuries if this joint becomes dislocated, and neurologic symptoms from AAI will occur in about 1% of children with Down syndrome.
X-ray screening of children with Down syndrome to detect AAI is required before participation in certain contact sports in the Special Olympics.Down’s syndrome causes a distinct facial appearance, intellectual disability and developmental delays. It may be associated with thyroid or heart disease.
SHORT TERM TREATMENT AND ITS EFFECTS
The number and type of associated conditions will determine treatment for children with Down syndrome. Breast-feeding should be encouraged because of the increased immunity that breast milk offers. However, babies with Down syndrome may have a weak and uncoordinated suck, so infant feeding requires patience, and special help from lactation experts might be recommended.
Coordinated interdisciplinary health and educational services are essential. All children with Down syndrome should be examined by a pediatric cardiologist since half will have congenital heart defect; an echocardiogram can be done in infancy to rule out heart problems.
Because over 50% of children will have crossed eyes (called strabismus, that can lead to vision loss called amblyopia or “lazy eye”), near-sightedness, farsightedness or cataracts, children should be examined by a pediatric ophthalmologist (a medical doctor that specialized in vision) at regular intervals. Glasses, eye patching or sometimes eye surgery will be helpful in maximizing a child’s vision.
Children with Down syndrome have decreased resistance to infections and are more prone to dental disease, leukemia, and other infections. Insulin-dependent diabetes is twice as prevalent in children with Down syndrome.
The child is also prone to ear infections because of having small Eustachian tubes (ear canals) and may need tympanostomy tubes (also called PE or pressure equalizing tubes) to drain fluid in the middle ear that muffles their hearing. Making sure that children with Down syndrome are seeing and hearing well will be very important so that they are not hindered in their learning and sensory input. Families should be offered genetic counseling to be informed of the chance of recurrence.
LONG TERM TREATMENT AND ITS EFFECTS
Children with Down syndrome are at increased risk for respiratory problems during surgery because of their anatomy and low muscle tone (hypotonia). Stridor (noisy breathing due to a narrowing or partial blockage of the windpipe) and apnea after surgery are common and thus children with Down syndrome should be very carefully assessed pre- and post-operatively. Children with Down syndrome may be more prone to infections such as ear infections and pneumonia. All infections should be treated aggressively. Sleep apnea is common and is often relieved by adenoid and tonsil removal.
Immunizations and consistent health care are extremely important. Growth should be monitored using special growth charts that compare children with Down syndrome to other children with Down syndrome. They may be more prone to obesity, and interventions for weight management are important in order to keep the child active and healthy.
Constipation may also be a problem because of low muscle tone and inactivity and thus a high-fiber diet may be useful to minimize this tendency. Puberty usually occurs at the same time as other children, and children and parents will need help to learn how to handle their sexuality in socially appropriate ways.
Children with Down syndrome are at increased risk for thyroid problems (20% incidence). Leukemia is18-20 times more common in Down syndrome than in the general population, but the absolute risk is still low. Life expectancy is about 55 years. Most men are sterile, but women can conceive. They will have a 50% chance of having a baby with Down syndrome.
COMPLICATIONS OF DOWN SYNDROME
Children with Down syndrome are at increased risk for respiratory problems during surgery because of their anatomy and low muscle tone (hypotonia). Stridor (noisy breathing due to a narrowing or partial blockage of the windpipe) and apnea after surgery are common and thus children with Down syndrome should be very carefully assessed pre- and post-operatively.
Children with Down syndrome may be more prone to infections such as ear infections and pneumonia. All infections should be treated aggressively. Sleep apnea is common and is often relieved by adenoid and tonsil removal.
Immunizations and consistent health care are extremely important. Growth should be monitored using special growth charts that compare children with Down syndrome to other children with Down syndrome. They may be more prone to obesity, and interventions for weight management are important in order to keep the child active and healthy. Constipation may also be a problem because of low muscle tone and inactivity and thus a high-fiber diet may be useful to minimize this tendency.
Puberty usually occurs at the same time as other children, and children and parents will need help to learn how to handle their sexuality in socially appropriate ways. Children with Down syndrome are at increased risk for thyroid problems (20% incidence). Leukemia is18-20 times more common in Down syndrome than in the general population, but the absolute risk is still low. Life expectancy is about 55 years. Most men are sterile, but women can conceive. They will have a 50% chance of having a baby with Down syndrome.
IMPLICATIONS OF DOWN SYNDROME
Children with Down syndrome will walk, talk, become toilet trained and develop many skills of independent living. However they will learn new skills more slowly than most other children. Most will test at an intelligence quotient (IQ) of 40-55.
Early intervention programs beginning in infancy can be very helpful to children and families in making sure that they have all the assistance possible to develop and remain healthy. Including children in activities that other children of the same age are doing results in developmental gains. Speech therapy may be helpful to encourage children to learn to speak with good articulation. Most children with Down syndrome can be mainstreamed into regular classrooms for at least part of their education. With special education, most children will develop reading and writing skills.
There is a range of developmental attainment of children with Down syndrome, but in general, their skills have been underestimated. They can take part in recreational activities with other children if there is some degree of accommodation for their delays. Their social development must be encouraged so that they can develop friendships and as many independent living skills as possible. Special work programs and semi-independent community living arrangements promise a full life for people with Down syndrome if families are assisted to guide their child in supervised independence that matches the child’s abilities and decision-making skills.
Parental education and support are essential, and local, regional, and national organizations are very helpful. In the infant and childhood years, making sure that a child with Down syndrome is engaged in services to support his/her development, to screen for conditions that are more common in children with Down syndrome, and to receive routine well child care is important. Safety issues, sexuality, and transition to adult care services are big issues that parents face as the years go by for the child with Down syndrome. Due to the societal stigma on people with Down synndrome, The UN theme for 2024 World Down synndrome day is “End the Stereotypes” which means;
We don’t all act the same way or like the same things. We each have our individual identity, interests, likes and dislikes, gifts and talents, just like everyone else. Having Down syndrome or an intellectual disability is just one part of who we are! We are people. Treat us like people and Love us just as we are.
Let Love Lead in human affairs!
© Asikiye Victory Kennedy George