Down syndrome is a genetic syndrome that can have profound effects on the body and cause disability. Genetic disorders come from the number of chromosomes store in our genes. In most people there are 23 chromosomes, one-half of those come from mother and the other half from father. Down syndrome occurs when the 21^st chromosome duplicates itself. When this happens, the physical and other effects of Down syndrome appear. This article will explain the effects of this disorder, how it affects the quality of life for someone who has it and family members.

What Are the Symptoms in Down Syndrome Patients?

The effects of Down Syndrome are seen in three different areas, including physical signs, cognitive symptoms, and behavior symptoms. These include:

Physical Signs

• Eyes that slant upward
• Smaller head size
• Flat features on face
• Smaller ears
• Shortened neck
• Tongue protrusion
• Hypermobility
• Short fingers
• Lack of muscle tone
• Deep palm and toe creases
• Heart disease or malformations
• Intestinal disease
• Respiratory disease

Behavior Symptoms

• Unable to pay attention
• Poor judgement and reasoning
• Poor impulse control

Cognitive Symptoms

• Developmental disability (speech, language, motor skills)
• Low IQ
• Poor learning abilities
• Poor cognition
• Developmental delays (often severe)

Effects of Down Syndrome on the Patient, Family and Life

How It Affects Kids

1. They look different. The physical characteristics of Down syndrome are often very pronounced. Someone can look at a child or adult with Down’s and know right away they have it. This can lead to physical limitations, bullying, and teasing from others.
2. They develop more slowly than others. You may hear the term “developmentally delayed” and this means things like speech, walking, talking, and other motor skills are slow to develop. Children with Down Syndrome tend to meet these milestones later than their peers.
3. Autism and ADHD. The effects on the brain and nervous system can cause disorders on the Autism Spectrum and Attention Deficit Hyperactivity Disorder. This can also lead to learning disabilities in school. Children may need more help in school and special education services, plus therapy to help them cope with the effects of Down syndrome.
4. Digestive issues. Down’s can cause issues with the digestive tract. This includes slowed digestion, diarrhea, and constipation. More serious illness can occur such as bowel obstruction, imperforate anus, Hirschsprung's disease, and rarely celiac disease. Some of these conditions may require bowel surgery to correct.
5. Problems with hearing. It is common to have hearing issues with Down syndrome. There is also a condition where fluid buildsup in the inner ear causing pressure and hearing problems or even chronic infection. This is known as “glue ear,” and needs tubes inserted to help drain the fluid.
6. Trouble seeing well. Down syndrome can have effects on vision and increased need for eyeglasses. This may be due to cataracts, near-sighted, far-sighted, nystagmus (uncontrollable eye movement), glaucoma, and keratoconus (bulging cornea). Some of these conditions may need surgery for correction.
7. Thyroid disease. Thyroid disease affects a larger number of people with down’s (at about 1 in every 10 people). Hypothyroidism is common and thus the thyroid is unable to regulate the metabolism without the use of thyroid hormone supplements. Symptoms include feeling tired, slowed movement, and weight gain. Blood testing can be done and missing hormone can be replaced.
8. Congenital heart defects and heart disease. One of the serious effects of Down Syndrome is approximately one-half of babies born with Down’s have heart defect. Most commonly, the heart has a hole between the chambers. This can cause heart failure due to an overflow of blood in the chambers and the inability to pump blood effectively. Babies with Down syndrome will need a full heart workup to make sure there are no issues with the heart.
9. Problems with chronic infection. The immune function of people with Down Syndrome is not as strong and they can get chronic infections such aspneumonia, influenza, ear infections, and common childhood diseases. The risk for infections can be lowered by giving children with down’s their required immunization, plus an annual flu shot.
10. Memory and cognitive dysfunction. Dementia can cause memory issues and problems with clear thinking in people with down syndrome. Dementia can set in early on as early as the 40’s. Signs this is occurring include short-term memory loss, disoriented thinking, trouble understanding directions, and mental confusion.
11. They also experience a full range of emotions and often need help coping with their feelings. Some may have behaviors that need careful and close monitoring. They often have trouble reasoning about what is appropriate and what is inappropriate. Many of these behaviors occur because they have trouble outwardly expressing and talking about their feelings inside. This has led to specially trained staff members that can teach them healthy ways of expression.

Effects on Family

Siblings and family members of children with Down syndrome can often feel left out with all the challenges in caring from someone with special needs. This affects the entire family unit. However, there are many chances for siblings to grow in a positive way when helping care for their special needs sibling. They tend to be more mature, protective, and develop their own skills at a faster level. People who have a Down Syndrome family member tend to be accepting of others with any disability and are more sensitive to the challenges others outside the home may face.

How About Its Effects on Everyday Life?

People with Down Syndrome are essentially normal people just like everyone else. They have dreams and aspirations for a future. They can learn in school with extra help, they hold jobs, and most patients, if not severely disabled can even live on their own. It is just a chromosome defect, but they are not ill. They just need more extensive care and support to help them achieve their goals.

Due to some of the effects of Down Syndrome and physical appearances, they are often separated from the community and people tend to expect less from them. Recent advancements in rehabilitation for Down Syndrome has led to the belief that they should be treated as normally as possible and encouraged to integrate into the community. This has led to the development of programs to help them work and function as independently as possible.

Advice for Parents

Caring for children with a disability and managing the effects of Down Syndrome takes a lot of time and patience. Siblings may not always understand this and here are some helpful tips to keep things balanced in the home:

• Give each of your children some of your time each day. Give them individual attention doing the things they like to do. Take the time to make each family member feel special.
• Keep your other children involved in helping care for your child with special needs, but don’t overload them with responsibility to this child.
• Give your partner time. Arrange for “dates” out to have time alone. Hire a caregiver to help so you can spend the night away from home. Pay attention to romance and take the time for each other.