Down Syndrome

Down syndrome (DS) is the most common chromosomal condition diagnosed in the United States. Around 6,000 babies — or one in 700 — are born with DS every year.

How Are Chromosomes Involved?

All human beings have 23 pairs of chromosomes in each of their cells. Chromosomes carry genetic information (genes) that determines our characteristics — some visible and some internal. Most people inherit 46 total chromosomes or 23 pairs — that’s one copy of each chromosome from each parent.

People with DS are born with an extra copy of chromosome 21, which gives them a total of 47 chromosomes. Nobody knows for sure why it happens, but we know that the extra chromosome is usually present in every one of the trillions of cells in their bodies. For that reason, DS is often referred to as “trisomy 21,” meaning three copies of chromosome 21.

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Common Characteristics of Down Syndrome

Although every child with DS is different, some characteristics are common. For example, most children with DS have some delays in various areas of development. Gross motor delays are delays in areas like sitting, crawling, and walking. Fine motor delays are delays in coordinated movements of the hands and fingers. Speech delays are delays in the onset and quality of speech development.

All children with DS develop at a different pace and some may not have as many developmental delays as others. On average, most children with Down syndrome reach their developmental milestones about 1.5 to 2 times later than other children. People with Down syndrome will typically experience mild to moderate intellectual disability.

People with DS also may have certain facial and physical attributes in common, including:

  • Almond-shaped eyes
  • Flat nasal bridge
  • Short neck
  • Small ears
  • Small chin
  • Small feet and hands with short fingers.
  • Shorter height

Potential Health Issues With DS

People with DS also may develop certain medical conditions. Hearing problems, eye issues, ear infections, and congenital heart defects are common. Later in life, people with DS may develop sleep apnea, hip dislocation, thyroid disease, and early onset Alzheimer’s disease.

The American Academy of Pediatrics (AAP) has guidelines for health care providers and families to help anticipate future medical needs and provide preventive care. When these guidelines are followed, many potential medical conditions can be discovered early, or even avoided. Researchers are currently developing health care guidelines for adults as people with DS are living longer.

Prenatal Screening for Down Syndrome

There are several ways to screen and diagnose DS before birth. The chance of a baby having Down syndrome increases for mothers over age 35. Doctors can use maternal blood samples and ultrasound to detect DS in the early stages of pregnancy. Other more invasive diagnostic tools — such as amniocentesis and chorionic villus sampling — may be used to definitively diagnose or confirm DS.

The Future of Down Syndrome

People with DS are living longer than ever before. In the 1960s, the average life expectancy for children with DS was age 10. Today, that number is age 60 and higher. People with DS also are living higher-quality lives, thanks to appropriate medical care, supportive therapies, and educational options.

People living with DS now benefit from interventions that weren’t offered or available years ago, including:

  • Speech therapy
  • Physical therapy
  • Occupational therapy
  • Inclusive education
  • Surgeries, particularly cardiac surgery for congenital heart disease

Good News for New Parents

Initially, expectant or new parents and their families may feel sad or disappointed when their baby is diagnosed with DS because of uncertainty about the child’s long-term prognosis. However, when DS touches a family, dreams need not be abandoned — just altered. Loving homes, early intervention services, individualized education planning, vocational training, and preventive medical care play an important role in helping children with DS reach their full potential.

Children with DS are first and foremost kids — who have the right to attend neighborhood schools and take part in community recreational programs. Adolescents and adults with DS have the right to work and live in the community, socialize with friends, and contribute fully at home, in the workplace, and in society.

Good News for Families

Research has shown that the families of children with DS have overwhelmingly positive experiences despite the diagnosis. Studies on the impact of DS on the family show that 96% of parents do not regret having a child with DS. And 96% of siblings would not want to trade their sibling with DS for a sibling without DS, and 99% of people with Down syndrome say that they are happy with their life.

Where to Find Support

The Down Syndrome Center of Western Pennsylvania at UPMC Children’s Hospital of Pittsburgh provides parents and families with the tools they need to become strong advocates for children and adolescents with DS. Services include comprehensive medical assessments and referrals to specialists and adult services as needed.

The center also collaborates with the Adult Down Syndrome Center at UPMC Montefiore, the Down Syndrome Medical Interest Group, and national Down syndrome organizations to investigate clinical issues in individuals with DS. Various educational resources are available through the center’s library.

For information or to make an appointment at our clinic in Pittsburgh (Lawrenceville neighborhood), Bridgeville, Wexford, Erie, Sharon, or Johnstown, Pennsylvania, call 412-692-7963.

Sources

Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125364/

Dr. Vellody's own flyer on DS

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