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Health Disabilities

(11-17-05)

IDEA

  • orthopedically impaired–physical disabilities
  • other health impaired–medical disabilities

Quality of Life

Edwards, Patrick, & Topolski (2003) suggest that 3 primary aspects of a person’s life are related to their quality of life: well-being, environment, and standard of living. In a study of self-rated quality of life in a sample of disabled secondary school youth they found that health status, depressive symptoms, and contextual factors (social inclusion, family communication) significantly related to perceived quality of life. The contextual factors are very appropriate targets for counseling interventions, education, and advocacy to increase peer support for and empowerment of disabled adolescent.

Conceptual Framework

Categories of biological contribution to phenotypical development (Cattell, 1950)

  • Hereditary-direct parental contribution
  • Innate-mutation and segregation
  • Congenital-acquired in uterus
  • Constitutional-alteration by life experience

Hereditary Influences: Mechanisms of Genetic Transmission

  • Biological foundation
    • chromosome, genes, alleles, DNA
    • karyotype: arrangement of chromosomes in standard order
    • mitosis: common cell reproduction
    • meiosis: cell division from germ cells (46 chromosomes) to gametes (sex cells)
    • (23 chromosomes)
  • Classical genetic principles: Gregor Mendel, 1866
    • dominant and recessive characteristics
    • phenotype, genotype
  • Exceptions to Mendelian Inheritance
    • additivity: blood type
    • polygenetic inheritance: height, neural tube defects, intelligence?
  • Autosomes and Sex Chromosomes
    • Sex-linked characteristics
      • Hemophilia
      • Red-green color blindness
      • Baldness
      • Some forms of muscular dystrophy, anemia, albinism

Hereditary Influences

  • Recessive gene disorders (947 catalogued)
    • Phenylketonuria (PKU)
      • one of over 23 Overflow Aminocidurias
      • gene incidence app. 1 in 100
      • IQ usually below 50, often below 20
      • treatment by 65 days, mean IQ 93+16
        • treatment 1st month: 95
        • treatment 2nd month: 85
    • Glactosemia
      • inborn error carbohydrate metabolism
    • Tay-Sachs Disease (Amaurotic Family Idiocy)
      • one of a number of recessive lipid diseases characterized by a regressive course
    • Family Microcephalus
      • anomaly of cranial formation: sever MR
    • Inherited Cretinism
      • absence, insufficiency, or error in production of thyroid hormone
  • Dominant Gene Disorders (1218 catalogued)
    • Epiloia
      • tumors of brain & skin
    • Huntington’s Chorea
      • progressive neurological deterioration
    • Primary Microcephaly
      • likely mild MR or borderline intellectual functioning
    • Neurofibromatosis
      • (NFI) chromosome 17

Innate Influences

  • Autosomal nondysjuctions
    • Down’s Syndrome (Trisomy 21, Mongolism)
      • moderate MR
      • “distinctive” face (epicanthan fold, large tongue and lips, furrowed tongue), broad hands with short fingers, congenital heart defects
      • Mother’s Age———— Incidence per 1,000 Live Births
      • 15-19 ———————–0.6
      • 20-24————————0.5
      • 25-29————————0.8
      • 30-34————————0.8
      • 35-39————————2.8
      • 40-44————————7.6
      • 45-49———————–27.5
    • Trisomy 22, 18, 13, 14, 15, 8
      • Trisomy 18: Trisomy E; Edward’s Syndrome
      • Trisomy 13: Patau Syndrome, Bartholin-Patau
      • MR and physical defects
  • Sex Chromosome Nondysjunctions
    • Klinefelter’s Syndrome (XXY)
    • Turner’s Syndrome (XO or X_)
    • XYY Syndrome
  • Structural Abnormalities
    • Ring Chromosomes (usually Ring 18): MR
    • Chi du Chat’s Syndrome (short arm one #5)
    • William’s Syndrome (#7)
    • Prader-Willi Syndrome
      • most involve deletions or rearrangement of chromosome 15
      • 40% deletion, 30% rearrangement, 30% no discernable chromosomal abnormality
      • mild to borderline MR, poor visual-spatial skills, appetite disorder, physical features

Congenital Influences

  • Prenatal
    • General Condition of the Mother
      • Malnutrition
      • Specific Dietary Deficits
        • Vitamin D: Rickets
        • Iodine: Cretinism
    • Maternal Illness
      • TORCH group (Toxoplasmosis, Rubella, Cytomegalovirus, Herpes, Syphillis)
    • Blood Type Incompatibility
      • ROGAM
    • Drugs: quantitative vs. qualitative effects
      • Thalidomide
      • Progestines: Progestine-induced hermaphroditism
      • Alcohol: Fetal Alcohol Syndrome
      • Nicotine
    • Chemical Toxins: PCB’s and IQ
    • Radiation
  • Natal
    • Anoxia
    • Fetal Distress
    • Cerebral Palsy
    • Prematurity (& Postmaturity)
      • Gestation age vs. gestation weight
      • Birth Weight (premature)–% Disability (IQ<70, CP)
      • <1,500 grams —————-4%
      • <1,000 grams —————-10%
      • < 750 grams —————–18%

Constitutional Influences

  • Illness
  • Toxic Exposure
  • Brain Injury

Illustrative physical and medical disabilities affecting children

  • Cerebral Palsy: neurological condition associated with motor problems, weakness, lack of coordination
    • often other disabilities are comorbid: hearing defects, speech and language problems, intellectual deficits, visual disabilities, perceptual problems–CP is usually considered multidisabled
    • prevalence: 4-5 per 1,000 live births
  • Spina Bifida: birth defect involving abnormal opening in the spinal column
    • both mild and serious forms occur
    • no association with intelligence
    • most common birth defect
  • Muscular Dystrophy: group of hereditary conditions, progressive, characterized by myodegeneration
    • Duchenne muscular dystrophy (DMD): most serious form
  • Spinal cord injuries
  • approximately 10,000 new cases a year
    • 85-90% males aged 16-30
    • MVA cause approximately 36%
    • gunshot wounds cause approximately 29%
    • falls cause approximately 21%
  • Acquired Immune Deficiency Syndrome (AIDS)
    • disease caused by the human immunodeficiency virus (HIV), which attacks the immune system
    • leads to opportunistic infections and tumors
    • AIDS complex dementia (ACD)
    • Prevalence: 19.9 per 100,000
    • approximately 8,600 children under 13
    • approximately 420,000 citizens of U.S. die each year from AIDS; 5,000 of these are under 15 years of age
  • Seizure Disorders (Epilepsy)
    • Approximately 2,500,000 people in the U.S. have some type of seizure disorder, about 30% are children
  • Diabetes
    • difficulty with regulation of blood insulin levels affecting metabolism of glucose
    • secondary complication: blindness, cardivascular disease, kidney disease, neuropathies may occur over time
    • juvenile onset diabetes tends to be more severe and progressive
    • brittle diabetes have very limited tolerance for dietary intake
    • approximately 6% of U.S. population have diabetes
  • Cystic Fibrosis
    • Inherited, systemic disorder of secretion glands
    • obstructs the functions of the lungs, pancreas, and sweat glands
    • occurs primarily in Caucasians, affects approximately 30,000 children and adults in U.S., app. 3 in every 10,000 live births
  • Sickle Cell Anemia
    • abnormality of hemoglobin molecule found in red blood cells
    • block microvascular channels causing anoxia
    • approximately 1 in 400 African-American infants has sickle cell anemia; 7-10% of African Americans carry a single recessive gene for Sickle Cell Anemia

Society & Health Related Issues

  • Child Abuse & Neglect
    • neglect
    • abuse
      • psychological abuse
      • physical abuse
        • episodic/explosive
          • male
          • female
          • role of alcohol abuse/dependence
        • psychotic
        • sadistic
      • sexual abuse
        • incident
        • chronic
        • incest
  • Maternal Drug and Alcohol Abuse
    • Fetal Alcohol Syndrome (FAS) & Fetal Alcohol Effects (FAE)
  • Health education and prevention efforts
    • teenage pregnancy
    • substance use prvention
    • wellness education
    • physical education
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