Evaluation and Diagnosis
Down syndrome is the most common genetic chromosomal disorder and cause of intellectual disabilities in children. Down syndrome is not inherited or caused by anything the mother did during pregnancy. Instead, it is caused by an error in cell division involving chromosome 21 during the development of the egg, sperm or embryo. The cause of this error is unknown and there are no behavioral or environmental factors that cause Down syndrome.
Are some parents more at risk?
As the age of the woman increases, the chances of giving birth to a child with Down syndrome also increase. This is because older eggs have a greater risk of improper chromosome division. In addition, a woman who has one child with Down syndrome has about a 1 in 100 chance of having another child with Down syndrome.
Are there prenatal screenings for Down syndrome?
Prenatal testing such as serum tests, blood tests and ultrasounds during pregnancy can estimate the risk of having a baby with Down syndrome but false positives and false negatives frequently occur. More invasive tests such as collecting a sample of the amniotic fluid (i.e. Amniocentesis), from the placenta (i.e. Chorionic Villus Sampling) or from the baby’s umbilical cord (i.e. Cordocentesis) can offer more accurate results. If you are pregnant, you can discuss these types of tests and their benefits and risks with your doctor to help you make the right decision.
but it is important to note that children with Down Syndrome are more like other children than they are different.
How is Down syndrome diagnosed?
Down syndrome is usually identified at birth or shortly after. The initial diagnosis is usually based on physical characteristics that are commonly seen in babies with Down syndrome that may include:
- Flattened facial features
- Small head
- Short neck
- Protruding tongue
- Upward slanting eyes
- Unusually shaped or small ears
- Poor muscle tone
- Broad, short hands with a single crease in the palm
- Relatively short fingers and small hands and feet
- Excessive flexibility
- Tiny white spots on the colored part (iris) of the eye called Brushfield spots
- Short height
The diagnosis must be confirmed by a chromosome study, or karyotype, which is a visual display of the chromosomes grouped by their size, number and shape. Chromosomes may be studied by examining blood or tissue cells.
Are there any health issues?
Some, but not all, individuals with Down syndrome can have health complications. These may include heart defects, leukemia, infectious diseases, dementia, sleep apnea, obesity, gastrointestinal blockage, thyroid problems, early menopause, seizures, ear infections and hearing loss. However, with appropriate medical care, most children and adults with Down syndrome can lead healthy lives. The average life expectancy of individuals with Down syndrome is 60 years, with many living into their sixties and seventies.
What to expect after a diagnosis of Down syndrome
In general, developmental milestones, such as sitting, crawling, walking, talking, will be delayed. As a result, early intervention services, such as physical, occupational, speech-language, and developmental therapies, should be provided shortly after birth.
Children with Down syndrome may have mild to moderate impairments, but it is important to note that they are more like other children than they are different. Depending on the level of difficulty, children may attend mainstream education, special education classes or require a more specialized program. Some students will complete high school and attend college. Many adults with Down syndrome are capable of working in the community, while others may require a more structured environment.
While there may be challenges, the quality of life for individuals with Down syndrome has greatly increased throughout the past years. A stimulating and loving home environment, alongside supportive educational and community programs, will enable people with Down syndrome to have a fulfilling, productive and meaningful life.