An Overview of Tay Sachs Disease

For many years, stress has been acknowledge by the medical and psychological communities as a major(ip) contributor to the onset of significant physical and mental health problems (Maes, Vingerhoets, & Heck, 1987; Hinkle, 1987). Stress is defined as "a state of tension, strain, or pressure" (Selye, 1974, p. 312). It is a "normal reaction publicationing from the interaction in the midst of an individual and the environment" (Selye, 1974, p. 312). Those actions or conditions which induce stress argon referred to as stressors. In any individual life, or in any family environment, stress whitethorn produce either substantiative or negative results.

In the following discussion, the pathophysiological process of TaySachs indisposition is considered. This discussion is followed by considerations of nursing interventions with obligingness to TaySachs disease in spite of appearance the contexts of (1) systems theory, (2) stress theory, and (3) the grieving process.

PATHOPHYSIOLOGICAL PROCESS OF TAYSACHS DISEASE

The pathophysiological process of TaySachs disease is discussed in three contexts. These discussions cover (1) carrier sensing, (2) physiology and effects of an enzymatic defect, and (3) detection of carriers, and genetic counseling of parents.

TaySachs disease is one of a convocation of genetic diseases "in which the storage of GM2 ganglioside and related glycosphingolipids is due to deficiencies of proper(postnominal) hexosaminidases

Perry, S. E. (1983). Parents' perceptions of their newborn following unified interventions. Nursing Research, 34(2), 208212.

SYSTEMS THEORY, AND THE PATHOLOGICAL/

Horan, M. L. (1982). Parental reaction to the birth of an infant with a defect: An attitudinal approach. Advances in Nursing Science, 5(1), 5767.

one time detection has occurred, genetic counseling is required. Adult carriers may opt to either remain unmarried, not have children, or to fool children rather than risk the birth of a TaySachs child.

amnio indicating the authorisation birth of a TaySachs child may result in parental decisions for abortion, as it is impossible, in such a situation, to stock warrant that the child will be normal with respect to TaySachs disease.

It is done the family, as a social and as an open system, that nurses proffer genetic counseling where a TaySachs child or a TaySachs carrier has been identified. The TaySachs child, as a living organism, is an open system. It is within the context of the living system that the problems of the child are diagnosed, and that her or his needs are addressed.

References

STRESS THEORY, AND THE PATHOLOGICAL/

Adult carriers may opt to either remain unmarried, not have children, or to adopt children rather than risk the birth of a TaySachs child. Amniocentesis indicating the potential birth of a TaySachs child may result in parental decisions for abortion, as it is impossible, in such a situation, to guarantee that the child will be normal with respect to TaySachs disease.

required for their catabolism" (Behrman, & Vaughn, 1983, p. 478). TaySachs disease is GM2 gangliosidosis Type 1 of this company (Behrman, & Vaughn, 1983). It is characterized by a lack of the enzyme, hexosaminidase A, required for the effective practice of fats (Strickberger, 1976). The resulting accumulation of certain fatty compounds around ner
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