Down Syndrome: A Parent’s Guide To Everything About It

What Is Down Syndrome?

Down syndrome is a genetic condition caused by an extra copy of chromosome 21. This results in intellectual, physical, and behavioral delays and disabilities. The severity of the symptoms varies depending on each individual’s condition.

The life expectancy of individuals with Down syndrome is improving and they can now take part in more activities, including employment, education, and community life. Recent medical advances, as well as cultural and institutional support, mean that individuals with Down syndrome can achieve many goals, respond to the challenges of this condition, and have a positive quality of life.

What Causes of Down Syndrome?

Genes come in pairs, and when the baby is conceived, both mom and dad pass on a gene for each trait. Half of the baby’s genes come from mom and a half from dad. There are 23 pairs of chromosomes, which are all made up of individual genes. Down syndrome occurs when an individual receives three number 21 chromosomes instead of two. This is how the baby gets a total of 47 chromosomes: one more chromosome than the usual 46.

Down syndrome (also called Trisomy 21) is a genetic disorder caused by the presence of all or part of an extra copy of chromosome 21. This causes problems with physical growth and development, as well as learning to speak and interact.

There are three types of Down syndrome

1) Trisomy 21

2) Mosaicism of Down syndrome

3) Translocation of Down syndrome

Trisomy 21

Trisomy 21, also known as Down syndrome, is a genetic disorder. Every cell in your baby’s body will have an extra copy of chromosome 21.

Mosaicism Down syndrome

Mosaicism is when a child is born with an extra chromosome in some, but not all of their cells. This means babies with mosaic Down syndrome do not have all the traits usually associated with the condition, however, they still have Down syndrome in their chromosome make-up.

Translocation Down syndrome

A translocation is when parts of two different chromosomes are swapped into one single chromosome. This exchange changes the number and location of genes in the child.

Will your child have Down syndrome?

There is an increased chance of birth defects when a mother is 35 or older. The baby’s father’s age can also affect the chances of having a baby with Down syndrome. Down syndrome mostly occurs because a chromosome from each parent’s pair is not complete. Some chromosomes are missing, or have an extra piece of chromosome (called an “extra” chromosome 21) that causes Down syndrome. When both parents have the same extra chromosome, there is an increased chance of having a child with Down syndrome.

Research shows that the father’s age may also affect whether your child has Down syndrome. One 2003 study found that fathers over 40 had twice the chance of having a child with Down Syndrome compared to men under 30 years old.

Other parents who are more likely to have a child with Down syndrome include people with a family history of Down syndrome, people who carry the genetic translocation 21 in their chromosomes, those whose eggs are older than 34 years old, or men having children after the age of 40.

You are pregnant! You are having a wonderful time, planning for all the exciting changes you and your family are about to experience. You have heard about how Down syndrome increases the chance of miscarriage, or that you may have a baby with Down syndrome, but in a lot of cases, most people do not know what that means.

What are the Symptoms of Down Syndrome?

You will experience no symptoms of carrying a child with Down syndrome. When you tell your doctor you are pregnant, they will test you for these traits to confirm their existence.

Most babies with Down syndrome have characteristic facial features, such as flat cheeks, a short nose, and slanted eyes. Birth defects affecting the heart, eyes, ears, and other body systems can also be present. Only a trained healthcare provider can diagnose Down syndrome during pregnancy.

A child with Down syndrome can be born with an average size. As he grows up, his body parts will grow differently than other children. For example, the head of a child with Down syndrome can be larger than normal and his arms and legs may also be shorter.

Down syndrome might affect a child’s abilities in speech, physical development, hearing, seeing, and learning. However, the effect varies from person to person and depends on the severity of the condition.

The most common features of Down syndrome include:

• short attention span
• slow learning capabilities
• poor judgment
• impulsive behavior

While many medical complications accompany Down syndrome, efforts to screen for and treat these problems in babies born with this condition are working.

Obesity, Leukaemia, Hearing Loss, Poor Vision, Cataracts, Dementia, Congenital Heart Defects, Chronic Constipation, Sleep Apnoea, Alzheimer’s disease later in life, Late Tooth Growth, Causing Problems With Chewing, Hip Problems, Such As Dislocations, Hypothyroidism (Low Thyroid Function).

The fact that people with Down syndrome are at increased risk for infections is not surprising. People with Down syndrome have problems with the immune system, respiratory infections, urinary tract infections, and skin infections.

Screening for Down syndrome during pregnancy

The chance for a woman over 35 or a woman with a family history of Down syndrome to deliver a baby with Down syndrome increases with age. An ultrasound that checks the baby’s chromosomes (genetic material) can tell you whether your baby has Down syndrome.

First trimester

When your doctor is concerned about Down syndrome, you may be offered an ultrasound evaluation and blood tests at one of your first prenatal visits. These tests have a higher false-positive rate than tests done at later pregnancy stages. If results are not normal, your doctor may follow up with an amniocentesis after 15 weeks of gestation.

Second trimester

Between 15 and 20 weeks of pregnancy, your medical team may ask you to have an ultrasound and a quadruple marker screen (QMS) test. These tests are typically done at the same time.

Treating Down syndrome

The National Down Syndrome Society is a great place for families to learn about programs, treatment, and support for individuals with Down syndrome and their families.

Your child will start a Down syndrome program as soon as he or she is diagnosed. In these programs, teachers and therapists help your child learn the skills he or she needs to have a happy and healthy life. Programs usually start with interventions in infancy. Federal law requires that states offer therapy programs for qualifying families.

• self-help skills
• motor skills
• sensory skills
• social skills
• language and cognitive abilities

With school as an important part of the life of a child with Down syndrome, regardless of intellectual ability, it may be difficult to find the right school for your child. Research reveals that children with Down syndrome attend mainstream classes in integrated classrooms at all levels from elementary to high school and even beyond.

Living with Down syndrome

Living with Down syndrome can mean more frequent visits to the doctor, but thanks to medical advancements, people with Down syndrome are having longer healthier lives. They are able to participate in everyday activities like never before and are becoming more integrated into their communities than ever before.

Building a strong doctor-patient relationship is key to keeping your child with Down syndrome healthy. Locate a specialist near you who has experience treating this condition, and be sure to stay in regular contact with that individual. Make sure your child gets annual flu shots, and ask about the appropriate use of antibiotics.

Living with Down syndrome will change your life in ways you never knew possible. You will learn how to take care of your child and help her become the best she can be. You will also discover stories you will want to share with other parents whose children also have Down syndrome – and with others who may not know much about this wonderful disorder.