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DOWN SYNDROMEDevelopmental Disabilities Ch. 18
Margaret McGoughKIN583
Discuss history of Down Syndrome
Recognize physical characteristics
Discuss medical complications
Discuss cognitive, development, behavioral characteristics
Interventions
Teaching strategies
Objectives:
Down Syndrome
One of the first symptom complexes associated with intellectual disability to be identified as a syndrome
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)
3 types of chromosomal abnormalities can lead to DS1. Trisomy 21 (95% of individuals)2. Translocation (4%)3. Mosaicism (1%)
Children with mosaic DS typically score higheron IQ tests
Medical complications tend to be similar among
all groups
Prevalence
13.7 per 10,000 (1/732)
Maternal age has been linked to DS20 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)
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)
Early Identification Cont’dPHYSICAL FEATURES:o 3 palm print patternso Brushfield spotso Ear lengtho Internipple distanceo Neck skinfoldo Widely spaced first toes
Children with DS have an increased risk of abnormalities in almost every organ system!
Medical Complications
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
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
Endocrine
Hypothyroidism – poor development of thyroid gland
Great risk for being overweightlower resting metabolic rateAfter first yr – gain more weight than height50% overweight
Diabetes Short stature
Orthopedic
Dental
Loose ligaments Flat feet Juvenile rheumatoid
arthritis Atlantoaxial
subluxation
(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
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
Hematologic Disorders
SkinConditions
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
& BehaviorDelays
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!
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!!
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)
Cognitive Cont’d
ALL INDIVIDUALS OLDER THAN 50 HAVE PATHOLOGICAL PLAQUES AND TANGLES IN THEIR BRAIN (ALZHEIMER’S)MENTAL HEALTH DISORDERS
ANXIETY, DEPRESSIONOCD
TREATMENT
Organized approach to medical management
Monitoring Prevention More frequent tests EARLY, EARLY, EARLY
Intervention
o Parent support/advocacy programso Early intervention programso Education: Optimal environment for
learningo Socialization – school, home,
communityo Focus on VISUALS (strength)o Alternative therapies, Nutritional
therapy
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
Teaching Points