COGNITIVE & SENSORY IMPAIRMENT

Down syndrome

• Presence of all or part of an extra 21 chromosome

• Occurs in all ages & races

• Maternal age most significant risk factor (>35 years)

• Causes moderate to severe cognitive and physical impairment

• Requires many services throughout life

Down syndrome assessment

• Prefer routine and consistency

• Self-stimulating behaviors

Down syndrome diagnosis

• Prenatal testing

• Manifestations evident at birth

Down syndrome manifestations

• Hypotonia

• Inner epicanthal folds

• Wide, flat, nasal bridge

• Narrow, high-arched palate

• Protruding tongue

• Small, short ears

• Short and broad neck

• Broad, short hands & stubby fingers

• Box 20.2

Down syndrome conditions associated

• Cardiac conditions

  • Heart malformations

    • Septal defects

  • Gastrointestinal disorders

  • Hearing and vision impairments

  • Thyroid disease

    • Test throughout life

  • Obstructive sleep apnea

  • Sensitive skin

  • Seizures

  • Atlantoaxial instability

Down syndrome management

• First year of life

  • Full cardiac workup

    • Detect any cardiac anomalies

  • Monitor GI system

  • Difficulty sucking and feeding

• 2-4 years

  • Sleep and behavior

• Support

  • Accepting diagnosis

  • Quick identification of resources

  • Genetic testing

• Encourage participation

• Keep on routine as much as possible

What is Fragile X

• Genetic disorder

  • Sex linked inheritance

• Gene located on the X chromosome

  • X-link dominant

• Carrier has either partial or full mutation

  • Females (XX) - partial

  • Males (XY) - full

• Carrier mothers transmit the disease

• Significant cognitive and learning disabilities

Fragile X manifestations

• Intellectual deficits

  • Assess capabilities → provide intervention

    • Language and sensory development r/t schooling

• Physical characteristics (LONG and LARGE)

  • Minor dysmorphic features

  • Long narrow face

  • Long, wide, or protruding ears

  • Enlarged testicles

  • Mitral valve prolapse

• Difficulties with social peer relationships

• Languaging and sensory impairment

• Possible aggressive behaviors

• Self injurious behaviors

Fragile X management

• Interventions target SYMPTOMS

  • Improve cognitive emotional and behavioral elements

  • Medications

  • Special education programs

  • Vocational programs

  • Behavioral management classes

  • Genetic counseling