By Jill S. Goldman
ISBN-10: 1489974814
ISBN-13: 9781489974815
ISBN-10: 1489974822
ISBN-13: 9781489974822
The grownup sufferer clinically determined with or in danger for a neurogenetic illness has many questions and matters for the genetic counselor, the neurologist, and different practitioners. due to the emotional and in all probability life-altering effect of those ailments at the sufferer and relations, counseling could be specially challenging.
A infrequent hands-on advisor to the topic, Genetic Counseling for grownup Neurogenetic Disease bargains with center matters that differentiate grownup neurogenetic counseling from its extra known pediatric counterpart. This cutting edge booklet with accompanying movies is designed to fill in deficits during this region standard of teaching courses in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which not often hide genetic counseling). for every situation featured, chapters contain a close evaluation of genetic indicators, diagnostic standards, and administration, plus instructions for asking, and answering, pertinent questions. the foremost focus, in spite of the fact that, is on genetic counseling matters and case histories illustrating those concerns. As an further size, the accompanying videos depict consultant concerns and demanding situations in genetic counseling for particular ailments as well as the fundamentals of a neurological exam. one of the stipulations discussed:
- Movement problems, together with Parkinson's disease.
- Dementias, together with Alzheimer's disease.
- Stroke.
- Motor neuron diseases.
- Neuropathies and channelopathies.
- Adult muscular dystrophies.
- Neurocutaneous syndromes.
- Plus a piece on neurological and neuropsychological evaluation.
This is info that may remain proper as applied sciences switch and genetic realizing evolves. Genetic Counseling for grownup Neurogenetic Disease deals complex scientific knowledge for genetic counselors in addition to neurologists, neuropsychologists, and different referring clinicians.
Read Online or Download Genetic Counseling for Adult Neurogenetic Disease: A Casebook for Clinicians PDF
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Extra info for Genetic Counseling for Adult Neurogenetic Disease: A Casebook for Clinicians
Example text
28. , & Hayden, M. R. (2006). Predictive testing for Huntington disease: Interpretation and significance of intermediate alleles. Clinical Genetics, 70(4), 283–294. 29. , & Christian, W. (2000). A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters. The American Journal of Human Genetics, 66 (3), 1145–1148. 30. , Leavitt, B. , & Hayden, M. R. (2008). Re: Autopsy-proven Huntington’s disease with 29 trinucleotide repeats. Movement Disorders, 23(12), 1794–1795.
In some cases, patients may benefit from antidepressants and behavioral therapies [17]. Family members and caregivers can be empowered by learning how to recognize and manage problematic behaviors. The Huntington Disease Society of America (HDSA) publishes several excellent guidebooks regarding behaviors for caregivers (see resources). Investigational therapies: Several trials have failed to demonstrate a long-term protective effect for antioxidants, anti-inflammatories, and mitochondrial supplements [17].
The fact that substantial expansions of maternally transmitted alleles with as few as 36 repeats have occurred provides evidence that expansions of large maternal intermediate alleles into the disease range are theoretically possible [29]. (c) Age of the transmitting parent: Some studies have suggested a specific effect of paternal age on the risk for intermediate allele expansion, with increasing paternal age associated with higher instability of the CAG repeat number [27]. (d) Predisposing haplotypes-: Intermediate alleles that are ascertained because they had already undergone an expansion are more likely to demonstrate instability than alleles that are incidentally ascertained from the general population [28] Further work has delineated specific haplotypes that are prone to expansion [2].