ABSTRACT
Introduction. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 703 Review of Genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 705 Life Expectancy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 706 Natural History . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 706 Potential Therapies or Interventions. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 708 Degree of Neuromotor Impairment . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 709 Major Organ Impairment . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 709 Dual Diagnoses . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 710 DNA Specific Information . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 711 Comorbid Medical Conditions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 711 Trisomy 21 as an Example of Life Care Planning Issues in Genetic
Conditions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 712 Rehabilitation Services . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 713 Durable Medical Equipment. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 713 Alternative Therapies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 713 Behavioral Issues. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 715 Conclusion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 716 Resources . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 716
Texts . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 716 Web-Based/Electronic Resources . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 716
References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 717
Classically, the definition of “genetic” disorders is that group of conditions in which the primary pathophysiology is based in changes in the DNA. With rapid advances in the understanding of the molecular basis of even common human
diseases, the term
genetic disorder
could encompass almost any human medical condition. For example, the genetic basis of conditions such as atherosclerotic heart disease, diabetes, hypertension, and cancer are becoming increasingly clear. In fact, if one includes genetic susceptibility, even such things as head trauma outcomes have been associated with polymorphisms in the apolipoprotein-E gene, and different polymorphisms have been shown to have predictive value.
