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Down Syndrome

Down Syndrome

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Down Syndrome

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  1. Developmental Disabilities Ch. 18 Down Syndrome Margaret McGough KIN583

  2. Objectives: Discuss history of Down Syndrome Recognize physical characteristics Discuss medical complications Discuss cognitive, development, behavioral characteristics Interventions Teaching strategies

  3. Down Syndrome One of the first symptom complexes associated with intellectual disability to be identified as a syndrome

  4. History • Evidence of syndrome dates back to ancient times (excavations of skulls, portrait paintings) • 1866 – Dr. John Langdon Down published 1st physical description • 1959 – researchers identified chromosomal abnormality that causes D.S. (additional chromosome 21)

  5. 3 types of chromosomal abnormalities can lead to DS • Trisomy 21 (95% of individuals) • Translocation (4%) • Mosaicism (1%) Children with mosaic DS typically score higher on IQ tests Medical complications tend to be similar among all groups

  6. Prevalence • 13.7 per 10,000 (1/732) • Maternal age has been linked to DS 20 yrs – 1 in 2,000 45 yrs – 1 in 20 • 1/3 of individuals with translocation DS inherit from parent who is a carrier • Trisomic DS occurs more in males • Translocation DS occurs more in females (reason unknown)

  7. Early identification • Women 35 + are offered prenatal diagnostic testing for DS with amniocentesis • Any age – prenatal screenings • Enables physicians to provide genetic counseling to the family (cardiac planning, parental accommodation, medical eval of infant)

  8. Early Identification Cont’d PHYSICAL FEATURES: • 3 palm print patterns • Brushfield spots • Ear length • Internipple distance • Neck skinfold • Widely spaced first toes

  9. Medical Complications Children with DS have an increased risk of abnormalities in almost every organ system!

  10. Congenital Heart Defects • Population study – 44% • Leads to increased back pressure in the arteries that connect the heart to the lungs (congestive heart failure) • Fatal

  11. Sensory • Vision: refractive errors, crossed eyes, jiggling of the eyes, inflammation of eyes, tear duct obstruction, cataracts, ptosis *Always have opthalmologist exam • Hearing: 2/3 – conductive (narrow throat structures and immune variation) sensorineural (cochlea or auditory nerve) *sleep apnea – arrested breathing during sleep

  12. Endocrine • Hypothyroidism – poor development of thyroid gland • Great risk for being overweight lower resting metabolic rate After first yr – gain more weight than height 50% overweight • Diabetes • Short stature

  13. Orthopedic Dental • Loose ligaments • Flat feet • Juvenile rheumatoid arthritis • Atlantoaxialsubluxation (partial displacement of upper vertebra) • Early-onset periodontal disease (gingivitis, regression of jaw bone that anchors teeth) • Malocclusions (abnormal contact of opposing teeth) • Fused, small, missing teeth

  14. Gastrointestinal Epilepsy • Malformations • 5 % of children with DS • Newborn period (poor feeding, vomiting) • Reflux • Celiac disease • 6 % of individuals with DS • Seizures occur: before 3, after 13

  15. Hematologic Disorders Skin Conditions • Complete blood count at birth because of high risk • 10-20% of children with transient leukemia in newborn period later develop acute myelogenous leukemia • Eczema • Inflammation of the lips • Dry, scaly skin • Fungal infection (nails) • Dandruff • Dry eyes

  16. Delays & Behavior

  17. Gross Motor • Do not sit up until 11 months • Do not walk until 19 months • Development milestones in boys with DS are generally reached later than girls *Significant disabilities are rare!

  18. Cognitive • First 2 yrs – don’t seem to have impairment • By 2 yrs – significant language delays • Receptive better than expressive • Intelligibility interferes with communication *Speech Therapy!!

  19. Cognitive Cont’d • Mild to moderate intellectual disability • Poor verbal short term memory skills • Visual motor skills are strong • Some children with DS may experience deterioration of cognitive or psychological functioning in adolescence (worsening behavior, academic performance)

  20. Cognitive Cont’d ALL INDIVIDUALS OLDER THAN 50 HAVE PATHOLOGICAL PLAQUES AND TANGLES IN THEIR BRAIN (ALZHEIMER’S) MENTAL HEALTH DISORDERS ANXIETY, DEPRESSION OCD

  21. TREATMENT • Organized approach to medical management • Monitoring • Prevention • More frequent tests • EARLY, EARLY, EARLY

  22. Intervention • Parent support/advocacy programs • Early intervention programs • Education: Optimal environment for learning • Socialization – school, home, community • Focus on VISUALS (strength) • Alternative therapies, Nutritional therapy

  23. Teaching Points Comprehensive: work with student, parents, health professionals, other faculty Find strengths - use visuals often Therapy Work together with the paraeducator & special education department Find peer tutors who can help you! Encourage programs (support student at Special Olympics, etc.) Look for changes in cognitive, development, behavior characteristics Be aware of medical problems