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Trisomy 21 (down syndrome)

What is Down’s Syndrome ? - Congenital “Birth” defect - A genetic mutation in the chromosomes. - Each pair of chromosomes include set of 2. - Down Syndrome Includes an extra chromosome on the 21st chromosome (set of 3)
Incidence and Population - Down syndrome can affect anyone whose familial ties has links to down syndrome. - Affects anyone whose family has the gene for Down Syndrome
Etiology Cause During reproduction 46 chromosomes should be divided in half and should get 23 chromosomes from dad and 23 from mom. When an error occurs where the extra chromosome on chromosome 21 is kept It than becomes three copies of the chromosome 21.
Test that can test Down Syndrome -Genetic testing -Blood Tests -X-Rays -Magnetic resonance imaging (MRI) -Computed tomography (CT) can -EOS imaging
Physical Appearance Eyes slant upward, Small folded ears, small mouth and tongue large, small nose, Short neck,small, hand, and short fingers, One single crease straight across palm second crease curves down by thumb, Short and unusual looseness of joints
Major Effects of the Condition -Heart defects -Some defects are minor and can be treated with medications but others require surgery -Chronic upper respiratory tract infections -Intestinal malformations -Visual impairment -Hearing loss -Thyroid problem -Leukemia
Medical Problems -Congenital heart disease & Gastrointestinal abnormalities -Musculoskeletal & movement problems -Spine disorders -Endocrinologic disorders Epilepsy -Hearing loss, Speech apraxia, Sleep/Feeding disorders -Developmental disabilities
Developmental Delays Mental growth Physical growth Maturation disorders Standing Walking Balance Cerebrum size
Signs and Symptoms Flexible joints and weak, floppy muscles Overly quiet baby Less responsive to stimuli Vision and hearing impairment Inwardly curved little finger Abnormal space between the great and second toe Unusual creases on the soles of the feet and hands
OT intervention Assist fine motor skills (grasp and pinch) Assist in development play and cognitive skills Improve independence in functional activities (dressing and toileting) Improve confidence and socialisation through motor skills Sensory integration concerns
Created by: rmart11