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Chromosomal and Endocrine Disorders. 2005. Chromosomal Disorders. Downs syndrome Trisomy Translocation Mosaicism Risk Factors. Downs Syndrome - Physical Signs. eyes face hands feet musculoskeletal. Down Syndrome. Physical Problems. High risk for: Heart malformations
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Chromosomal Disorders • Downs syndrome • Trisomy • Translocation • Mosaicism • Risk Factors
Downs Syndrome - Physical Signs • eyes • face • hands • feet • musculoskeletal
Physical Problems • High risk for: • Heart malformations • Respiratory infections • Atlantoaxial instability • others: leukemia, hypothyroidism
High risks of respiratory infection Difficulty eating Altered growth & development Altered family process Nursing Interventions
Endocrine Disorders Growth Hormone • Hypopituitarism • Deficiency of GH • Treatment: replacement therapy
Growth Hormone Disorders • HyperpituitarismExcess before epiphyseal closure- gigantismExcess after epiphyseal closure - acromegaly Treatment: Surgery, radiation
Other Endocrine Dysfunctions • Hypothyroidism • congenital • acquired • Pancreas • diabetes in children • Type I
Hypothyroidism • Screen at birth • Hormone necessary for brain development first 2 years of life • Necessary for linear growth during childhood.
Hypothyroidism • Permanent brain damage • Severe retardation • Very thick dry skin • Tongue thick • Saddle nose
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.
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.
Educable (EMR), Mildly retarded • Trainable (TMR), Moderately retarded
Early Interventions programs • Promote child’s optimum development • Self-help skills • Communications • Socialization • Sexuality
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.