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Cognitive Impairment - IQ<70
- functional deficits
- diagnosed before age 18
Early sign:
- delayed gross and fine motor skills
- difficulty with speech and communication
- aggression or poor environmental adaptation
Risk Factor:
- Substance exposure in utero -> teratogenic brain
effects
- Low SES -> Impacts development and chronic
illness risk
Nursing care:
- Screen at 9, 18, 30 months & 4 years
Down Syndrome Caused by trisomy 21
Physical features: 35 years increases risk (1 in 350)
Health Problems: congenital heart defects,
hypothyroidism, leukemia, Alzheimers, Atlantoaxial
instability, Cataracts
Down Syndrome Diagnosis and Diagnosis
Associated Disorders Screenings - Chromosomal Analysis
- maternal analysis
- blood
Screening for associated disorders:
- Echocardiogram
- vision and hearing
- Thyroid hormone level
, Down Syndrome Management - Manage associated disorders & comorbidities
- surgery to correct serious anomalies
- genetic counseling
- vision and hearing
- thyroid and iron studies
- socialbility
- therapy for developmental delays
Fragile X FMR1 gene mutation (X-linked dominant)
Both males and females can transmit
Common features:
- long face
- large ears
- autism-like behaviors
- flat feet
- large testes
- high arched palate
Fragile X Behavioral Manifestations & Behavioral Manifestations:
Medical Concerns - Intellectual disabilities
- learning disabilites
- language delays
- autism-like behaviors
- social anxiety
- increase risk of aggression
Medical Concerns:
- history of recurrent ear infections and sinusitis
- mitral valve prolapse associated with Fragile X
- 50% also have autism diagnosis
- ADHD symptoms may be present
ADHD Patho: genetics, exposure to toxins, neurochemical
imbalance, weak signals in prefrontal cortex, diet
Symptoms: inattention, hyperactivity, impulsivity
Diagnosis: 6+ symptoms for 6 months in 2 settings
Risks: Academic problems, anxiety, depression