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Chromosomal and Endocrine Disorders

Learn about Down syndrome, growth hormone disorders, and cognitive impairments in children, along with nursing interventions and early educational programs. Discover the risks, physical signs, and interventions for these disorders.

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Chromosomal and Endocrine Disorders

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  1. Chromosomal and Endocrine Disorders 2005

  2. Chromosomal Disorders • Downs syndrome • Trisomy • Translocation • Mosaicism • Risk Factors

  3. Downs Syndrome - Physical Signs • eyes • face • hands • feet • musculoskeletal

  4. Down Syndrome

  5. Physical Problems • High risk for: • Heart malformations • Respiratory infections • Atlantoaxial instability • others: leukemia, hypothyroidism

  6. High risks of respiratory infection Difficulty eating Altered growth & development Altered family process Nursing Interventions

  7. Endocrine Disorders Growth Hormone • Hypopituitarism • Deficiency of GH • Treatment: replacement therapy

  8. Growth Hormone Disorders • HyperpituitarismExcess before epiphyseal closure- gigantismExcess after epiphyseal closure - acromegaly Treatment: Surgery, radiation

  9. Other Endocrine Dysfunctions • Hypothyroidism • congenital • acquired • Pancreas • diabetes in children • Type I

  10. Hypothyroidism • Screen at birth • Hormone necessary for brain development first 2 years of life • Necessary for linear growth during childhood.

  11. Hypothyroidism • Permanent brain damage • Severe retardation • Very thick dry skin • Tongue thick • Saddle nose

  12. Cognitive Impairments • Mild: IQ – 50-70 slower to achieve motor milestones, self care, language. Can reach 3rd to 6th grade level. Achieves adequate vocational and self-maintenance skills • Moderate: - IQ - 35-50, noticeable delays in motor, and speech. Performs simple tasks in sheltered conditions.

  13. Cognitive Impairments • Severe: IQ 20-40. Marked motor delays. Little or no communication skills. Needs protective environment repetitive activities and direction • Profound: IQ below 20 minimum capacity for functioning, needs total care. Achieves the mental age of young infant.

  14. Educable (EMR), Mildly retarded • Trainable (TMR), Moderately retarded

  15. Early Interventions programs • Promote child’s optimum development • Self-help skills • Communications • Socialization • Sexuality

  16. Hospitalization • Consult with parent about the child’s abilities using open-ended questions. • Determine child’s functional level, any special devices any techniques the parents use. • Encourage independence. • Follow home routines as possible • Place child with developmentally similar roommate and playmates.

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