Down Syndrom FAQs

WHAT IS DOWN SYNDROME

Down Syndrome is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome. The condition leads to impairments in both cognitive ability and physical growth that range from mild to moderate developmental disabilities. Physical development in individuals with Down syndrome is often slower than the development of individuals without Down syndrome.

There are many features of Down Syndrome, examples are:

Body shape and size:

Short stature (height): An individual often grows slowly and is shorter than average as an adult
Low muscle tone (hypotonia) throughout the body
A short, wide neck
Short arms and legs

Face shape and features:

Slanted eyes
A nasal bridge that looks pushed in Small ears: They may be set low on the head
Irregularly shaped mouth and tongue: The individual’s tongue may partly stick out. The roof of the mouth (palate) may be narrow and high with a downward curve
Irregular and crooked teeth: Teeth often come in late and not in the same order that other children’s teeth come in.

CAUSES

Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother. Down syndrome results when abnormal cell division involving chromosome 21 occurs.
There are no known behavioral or environmental factors that cause Down syndrome.
Anyone of three genetic variations can cause Down syndrome:

Anyone of three genetic variations can cause Down syndrome:

Trisomy 21: About 95 percent of the time, Down syndrome is caused by trisomy 21: The child has three copies of chromosome 21 (instead of the usual two copies) in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell
Mosaic Down syndrome: In this rare form of Down syndrome, children have some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization
Translocation Down syndrome: When part of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional material from chromosome 21 attached to the translocated chromosome.

SYMPTOMS

There are a variety of symptoms, such as:

Short attention span
Poor judgment
Impulsive behaviors
Slow learning
Delayed language and speech development
Delays in self-help skills.

TREATMENT

There is no single, standard treatment for Down Syndrome. Treatments are based on each individual’s physical and intellectual needs as well as his or her personal strengths and limitations. Below are various examples of treatment, although there are many more.

Early Intervention: This refers to a range of specialized programs and resources that professionals provide to very young children with Down syndrome and their families. These professionals may include special educators, speech therapists, occupational therapists, physical therapists, and social workers. ABA Works provides Early Intensive Behavior Intervention services based on Applied Behavior Analysis (ABA)

Physical therapy: Activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance

Speech-language therapy: Can help individuals with Down Syndrome improve their communication skills and use language more effectively

Occupational therapy: Helps find ways to adjust everyday tasks and conditions to match an individual’s needs and abilities.

Applied Behavior Analysis (ABA) therapy: Individuals with Down Syndrome may become frustrated because of difficulty communicating; may develop compulsive behaviors, and may have Attention Deficit Hyperactivity Disorder and other mental health issues. ABA can help to decrease tantrums, increase compliance and a variety of skills, including communication

Amino acid supplements or drugs that affect the brain activity: Many of the recent clinical trials of these treatments were poorly controlled and revealed adverse effects from these treatments. Since then, newer psychoactive drugs that are much more specific have been developed. No controlled clinical studies of these medications for Down Syndrome have demonstrated their safety and efficacy

Assistive devices: Any type of material, equipment, tool, or technology that enhances learning or makes tasks easier to complete. Examples include amplification devices for hearing problems, bands that help with movement, special pencils to make writing easier, touchscreen computers, and computers with large-letter keyboards.

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