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