PRESENTATION OUTLINE
What is Down syndrome?
Down syndrome(also called trisomy 21)is a congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21. The person has an extra chromosome.
Symptoms
Developmental: learning disability, delayed development, speech delay in a child, short stature.
Mouth: displacement of the tongue or abnormally large tongue.
Cognitive: difficulty thinking and understanding or intellectual disability.
Symptoms continued...
Also common: obesity, deafness, mouth breathing, thyroid disease, low-set ears, flaccid muscles (weak),congenital heart disease, spots in the eye, immunodeficiency, bent little finger, lazy eye
Causes
Down syndrome occurs in about 1 out of every 700 babies.A baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. The extra copy changes how the baby's body and brain develop. It can cause both mental and physical challenges for the baby.
Possible treatments
Down syndrome is a lifelong condition. But there are things that can help...
Most services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational & physical therapy. They may also need extra help or attention in school.
Where it is more prevalent
Down syndrome can happen to anyone. The ages to most likely be affected are... 0-40 and people ages 41-60+ can be somewhat affected.
Types of Down syndrome
Trisomy 21- about 95% of people with Down syndrome have trisomy 21. Each cell in the body has 3 separate copies of chromosome instead of the usual 2 copies.
Translocation Down syndrome: accounts for small percentage of people with Down syndrome (3%). Occurs when an extra part or whole extra chromosome 21 is present but is attached or "translocated" to a different chromosome rather than being a separate chromosome 21.
Types of Down syndrome continued...
Mosaic Down syndrome: affects about 2% of the people with Down syndrome. For children with mosaic Down syndrome some of their cells have 3 copies of chromosome 21. They may have fewer features of the condition due to the presence of some(or many) cells with a typical number of chromosomes.