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Common Chromosomal and Genetic Disorders in Children (page 5)

By — Pearson Allyn Bacon Prentice Hall
Updated on Jul 24, 2013

Cystic Fibrosis (CF)

Incidence

1 per 3,300 children from European American backgrounds and 1 per 9,500 children from Hispanic American backgrounds

Characteristicsa

Children with this recessive-gene defect have glands that produce large amounts of abnormally thick, sticky mucus, which creates serious problems for breathing and digestion. CF is usually noticed in infancy due to persistent coughing, wheezing, pneumonia, and big appetite with little weight gain. Many individuals with CF now live well into their 40s.

Implications for Care

Be aware of symptoms that require medical care. The condition is often treated with physical therapy, medication, and bronchial drainage.

Tay-Sachs Disease

Incidence

1 per 2,500-3,600 children among Ashkenazi Jews (of Eastern European ancestry)

Characteristicsa

Children with this recessive-gene defect develop a fatal, degenerative condition of the central nervous system. They lack an enzyme required to break down a fatty substance in brain cells. At about 6 months of age, children slow down in development, lose vision, display an abnormal startle response, and go into convulsions. Other functions are gradually lost, and children become mentally retarded, cannot move, and die by age 3 or 4.

Implications for Care

Offer love and attention as you would to other children. Be alert to new accommodations that may be needed in the environment, such as stabilizing and securing the surroundings when children lose sight. There is no known cure or treatment.

Thalassemia (Cooley's Anemia)

Incidence

1 in 800-2,500 individuals of Greek or Italian descent in the U.S.; rates are lower in other groups

Characteristicsa

Children with this recessive-gene defect develop a disease of blood cells in which oxygen is not transmitted effectively. They become pale, fatigued, and irritable within their first 2 years of life. Individuals with serious forms of the condition may develop feeding problems, diarrhea, and enlargement of the spleen and heart, infections, and unusual facial features and bone structures. Young people severely impaired by this condition sometimes die by early adulthood.

Implications for Care

Help children to cope with their health problems. Treatment may include blood transfusions, antibiotics, and occasionally bone marrow transplants.

Duchenne Muscular Dystrophy

Incidence

1 per 3,000 to 4,000 boys

Characteristicsa

Only boys acquire this X-linked recessive-gene defect, which causes a progressive muscular weakness because of a gene's failure to produce an essential protein needed by muscle cells. Between ages 2 and 5, affected boys begin to stumble and walk on their toes or with another unusual gait. They may lose the ability to walk between ages 8 and 14 and may later die from respiratory and cardiac problems.

Implications for Care

Watch for respiratory infections and heart problems. Treatments include physical therapy, orthopedic devices, surgery, and medications to reduce muscle stiffness.

Notes

aThis table describes typical symptoms for children with particular chromosomal and genetic problems. Children's actual level of functioning depends on the medical treatments they receive; their experiences with families, teachers, other caregivers, and other children; and their health and other genes they might possess. New medical treatments and educational interventions are constantly being tested, and many will increase quality of life for these children.

bX-linked dominant defects also occur but are rare. For example, children who receive the gene for Hypophosphatemia on the X chromosome produce low levels of phosphate and. a result, have soft bones that are easily deformed.

Sources: Blachford, 2002; Burns et al., 2000; Cody & Kamphaus, 1999; Dykens & Cassidy, 1999; Massimini, 2000; K. L. Moore & Persaud, 2003; Nilsson & Bradford, 1999; M. P. ""I & Schulte, 1999; J. T. Smith, 1999; Waisbren, 1999; Wynbrandt & Ludman, 2000.

 

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