Down Syndrome
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What is Down syndrome?
Down syndrome is a naturally occurring chromosomal arrangement. Down syndrome has always existed and is universal across racial, gender, and socio-economic lines.
People with Down syndrome have:
- Some intellectual disability
- Some delay in the development of speech and motor skills
- Some characteristic physical features, including a recognizable facial appearance and short stature
Each person with Down syndrome will have their own strengths, likes, dislikes, talents, and temperament. People with Down syndrome might look similar and share some common physical features, but most of all, they will look like their family members and will have their unique personalities.
With appropriate medical interventions and treatment, most people with Down syndrome can have healthy lives. In 1983, people with Down syndrome only lived to about 25, in 2024, the average is 60 years old. However, as with anyone else, there is no definitive life span and some people with Down syndrome have lived well into their 70s.
Some health concerns for people with Down syndrome may include:
- Congenital heart conditions
- Gastrointestinal issues
- Increased risk of developing childhood leukemia
- Respiratory infections
- Sleep issues
- Thyroid problems
- Vision and hearing problems
It is important to remember that not all people with Down syndrome will experience these health concerns. Most health issues associated with people with Down syndrome also occur in the general population and in many cases, the health conditions can be successfully treated and managed by careful monitoring.
Causes & Types
There is no known cause for Down syndrome, and it has nothing to do with what the parents did or did not do during pregnancy. There are three types of Down syndrome, and the type is identified from the chromosome studies done at birth to confirm the diagnosis of Down syndrome:
Trisomy 21 is the most common type of Down syndrome. With an extra copy of Chromosome 21 in every cell, it includes 95% of the Down syndrome population.
Translocation occurs in only 2-3% of those born with Down syndrome, where an extra part or whole extra copy of chromosome 21 is attached to a different chromosome.
Mosaicism is the least common type of Down syndrome. In about 1% of children with Down syndrome, there is an extra whole chromosome 21 in only a percentage of their body cells- the rest of the cells do not have the extra chromosome.
No matter which type of Down syndrome your child has, the effects of the extra genetic material will be unique to them.
There are a few factors that may influence a baby’s chance of having Down syndrome:
- The chance of having a baby with Down syndrome increases with the mother’s age because older eggs are more likely to divide atypically However, about half of babies born with Down syndrome are born to mothers under 35 years old simply because more young women are having babies.
- Couples who have had a child with Down syndrome have a slightly increased chance of having a second child with Down syndrome.
- Individuals (men and women) who carry the translocation chromosomal abnormality may have an increased chance of having a child with Down syndrome depending on the type of translocation.
DIAGNOSIS
How is Down syndrome diagnosed?
After birth, your healthcare provider can test the baby’s blood for the extra chromosome. This is done if the baby has any of the physical signs or birth defects of Down syndrome.
How is Down syndrome diagnosed before birth?
Screening for Down syndrome may be a part of prenatal care for all pregnancies. Noninvasive prenatal testing (NIPT) is a blood test used in prenatal screening. It can determine the risk that the fetus will be born with certain genetic abnormalities. The test is most often used to look for chromosomal disorders, such as the one that causes Down syndrome.
The NIPT test is very accurate but cannot be used to diagnose Down syndrome. It only indicates your risk of having a baby with Down syndrome. Some women test positive on the screen but have babies without Down syndrome.
The only way to diagnose Down syndrome before birth is through diagnostic testing. This involves checking the tissue and fluid in the womb for the extra chromosome. This can be done through:
- Chorionic villus sampling (CVS) taking a sample of the placenta during weeks 10 to 14 of pregnancy.
- Amniocentesis. Taking a sample of the amniotic fluid during weeks 14 to 18 of pregnancy.
- Percutaneous umbilical blood sampling (PUBS), taking a sample of the fetal blood in the umbilical cord during weeks 18 to 22 of pregnancy. It is the most accurate test but has the most risks.
There is a slight risk that these tests can cause a miscarriage. Diagnostic tests are used only when there is a higher chance of a genetic problem in the baby. This could be if the mother is 35 or older or if the mother received an abnormal screening result.
Should I be tested?
This decision is up to you. Some women feel better if they know their risk so that they can prepare themselves for the possibility of having a baby who has Down syndrome. Your healthcare provider can help you understand your risks and consider the pros and cons of getting screened and/or tested.
TREATMENT
Are there treatments?
Down syndrome is not a disease, disorder, defect or medical condition and therefore does not require treatment, prevention or a cure. However, some people with Down syndrome may have other health conditions that require different forms of treatment. Treatments could be one-time (such as surgery) or lifelong (such as a special diet).
Treatment could start in infancy if a child with Down syndrome is born with a health condition such as a heart defect. Babies with Down syndrome may be screened for health conditions such as hypothyroidism, hearing loss, vision problems, blood disorders, and digestive problems.
Some children with Down syndrome have a team of health professionals, including doctors, specialists, and therapists. They work together to give the child the treatment and therapy they need to thrive. Services may include early intervention, therapies, and assistive devices.
Early intervention
Early intervention involves specialized programs and resources that are provided to babies and toddlers with Down syndrome and their families. They usually start in infancy. Research has shown that early intervention improves outcomes for these children later in life.
Therapies
There are a variety of therapies that can help children with Down syndrome. These include:
- Physical therapy– exercises and activities that increase strength, improve posture and balance and build motor skills. Many children with Down syndrome have low muscle tone. Physical therapy can be particularly helpful for them.
- Speech therapy –helps develop communication and language skills. Children with Down syndrome often speak later than children without Down syndrome.
- Occupational therapy –adjusts everyday activities to the child’s abilities. This therapy teaches skills your child will use every day. These skills include eating, getting dressed, handwriting, and caring for themselves.
- Behavioral therapy –Children with Down syndrome may get frustrated or develop compulsive behaviors. This therapy helps the child cope with complicated feelings and learn to self-regulate behaviour.
Accommodations
An accommodation is any tool, technology, or piece of equipment that helps someone function more easily. This could include something as simple as a modified pencil that makes writing easier, a special touchscreen computer that allows a person to communicate, additional time for school work, or assistive devices such as hearing aids.
Living with Down syndrome
Other health conditions sometimes go along with having Down syndrome. Every person with Down syndrome is different. A person with Down syndrome may or may not have or develop any of these other conditions.
- Poor muscle tone. it takes longer to learn to roll over, sit up and walk. Physical therapy can help.
- Heart defects. About half of babies who have Down syndrome also have a heart problem. An ultrasound exam of your baby’s heart will show any defects. Surgery may be necessary to fix the heart condition.
- Digestive problems. Some babies who have Down syndrome have problems swallowing. Others may have blockages in their intestines. Surgery may be necessary to fix these problems. Once they are fixed, they usually cause no further concerns. Children with Down syndrome may have Celiac disease This causes intestinal problems when they eat gluten, a protein in wheat. A special diet is recommended.
- Hearing problems. Up to 75% of children with Down syndrome have problems with their hearing. Regular hearing screenings are required Vision problems. Some babies have eye problems, such as cataracts (cloudy lenses) or crossed eyes. Corrective lenses or surgery may be needed.
- Down syndrome may cause a weakened immune system that makes it harder to fight infection. Children with Down syndrome may have more frequent colds, ear infections, and sinus infections. Recommendations will be made that children with Down syndrome receive vaccines.
- Blood disorders. People with Down syndrome are more likely to have blood disorders. These could include anemia (low iron) and polycythemia (high levels of red blood cells). Often these kinds of abnormalities in the blood will resolve on their own in time. Children with Down syndrome may develop leukemia (cancer of the white blood cells)
- Premature aging. Adults with Down syndrome may develop health problems normally caused by aging at a younger age than in the general population. These could include dementia, memory loss, and early menopause.
- Learning disabilities. People with Down syndrome will have some level of intellectual disability. The extent of this disability and how affects the way they think and learn is different for every individual.
For the future
With appropriate medical interventions and treatment, most people with Down syndrome can have healthy lives.
Individuals with Down syndrome have the same physical and emotional needs as everyone, Down syndrome is part of who they are. Every person with Down syndrome is different. It is possible for people with Down syndrome to:
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