Quiz 2: Developmental Disabilities Flashcards
Down Syndrome
- Not a disease
- A genetic disorder -> trisomy 21
- Causes moderate to severe intellectual impairment.
- Requires many services throughout life
Down Syndrome Incidence
Higher incidence in boys and non-hispanic white children
What are risk factors for children with down syndrome?
Maternal age >35 years old (most significant factor)
What are physical manifestations of Down syndrome?
- Flat profile
- Inner epicanthal fold
- Wide, flat, nasal bridge
- Narrow, high arched palate
- Protruding tongue
- Small, short ears (may be low set)
- Short stature
- Hypotonic (floppy)
Children with Down syndrome have neurological delays in:
- Cognitive skills and levels of adaptive function
- Find and gross motor skills
- Speech
What conditions are associated with Down syndrome?
- Cardiac conditions
- Cataracts
- GI conditions
- Endocrine disorders: Hypothyroidism
- Sensitive skin
- Seizures
Assessment of children with Down syndrome will show
- They prefer routine and consistency
- Self-stimulating behaviors
How is Down syndrome diagnosed?
- Prenatal testing
- Manifestations evident at birth
Management of Down Syndrome during the first year of life
- Full cardiac workup to detect any cardiac anomalies
- Monitor GI system
- Medical strategies: correcting structural deformities and associated behaviors
Management of Down syndrome in 2-4 y/o
-Sleep and behavior
Other management for Down syndrome includes
- Support: accepting diagnosis and quick identification of resources
- Encourage participation
- Keep on routine as much as possible
Fragile X Syndrome
- Genetic disorder -> sex linked inheritance
- Gene located on X chromosome
- Carriers has either partial or full mutations: Females (XX) is partial; Males (XY) is full
- Carrier mothers transmit disease
- Significant cognitive and learning disabilities
What are manifestations of fragile X syndrome?
Areas of functioning is affected.
- Intellectual deficits (boys)
- Difficulties with social peer relationships
- Language and sensory impairment
- Behavioral difficulties
- Self-injurious behavior
What are physical characteristics of fragile X syndrome?
- Facial dysmorphism
- Large ears
- Long narrow face
- Enlarged testicles
- Flat feet
- Mitral valve prolapse
Fragile X Syndrome: Cure
There is no cure
