Chromosomal and Endocrine Disorders 2005 Chromosomal Disorders n

Chromosomal and Endocrine Disorders 2005

Chromosomal Disorders n Downs syndrome n n Trisomy Translocation Mosaicism Risk Factors

Downs Syndrome - Physical Signs n n n eyes face hands feet musculoskeletal

Down Syndrome

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

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

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

Growth Hormone Disorders • Hyperpituitarism Excess before epiphyseal closuregigantism Excess after epiphyseal closure acromegaly Treatment: Surgery, radiation

Other Endocrine Dysfunctions n Hypothyroidism n congenital n acquired n Pancreas n diabetes in children n Type I

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

Hypothyroidism n n n Permanent brain damage Severe retardation Very thick dry skin Tongue thick Saddle nose

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

Cognitive Impairments n n 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.

n n Educable (EMR), Mildly retarded Trainable (TMR), Moderately retarded

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

Hospitalization n n 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.