Clinical manifestation: There are two clinical phases which characterizes PWS as shown in table 1 (Zellweger, 1988): The two clinical phases of PWS (1) Phase 1 Moderate to severe neonatal hypotonia Poor suck Difficulty in feeding Hypogonadism Marked delayed in motor milestone Phase 2 Much less hypotonia Short stature Hyperphagia Increasing obesity… Read More »
PWS is a complex disorder with variable phenotypic changes according to the age of the patient. There are numbers of Associations and Support groups are working together to give a better management to the PWS individuals e.g. Prader Willi Syndrome Association (UK) and PWSA (USA) etc. Researches are still in progress in all concerned… Read More »
Care providers of a PWS patient must understand that the intervention means the management of clinical symptoms. Because PWS undergoes different developmental changes they must understand its impact on both patient and their families. Creation of a management strategy should be drown on the condition of disease. Professional experiences and from the knowledge of… Read More »
Over past decade it has been noticed that structural and functional homologies extend across very distantly related species. Now day’s homology to a relevant orthologus gene is a criterion of extracting the candidency of a gene to a disease. Virtually every mouse gene has the exact counterparts as human, and the same probably do… Read More »
The etiology and pathology of disease is not well understood until very recent advances in the field of cytogenetics and molecular genetics. These recent advances are now providing some insight of the fairly complicated syndrome. Approximately 70% of the PWS have been shown to have a deletion in chromosome 15, described as 15q11-q13.… Read More »
(1) This case study has been provided by Jack Sherman and adapted from Greenswag & Alexander, 1995. In 1957, just after the publication of the article by Prader, Labhart and Willi (1956) Miss M. was born. Due to lack of information and awareness it took a long time to be diagnosed. M. was evaluated… Read More »
Many of the child behavior problems and cognitive capabilities can be explained within the framework of understanding the characteristic of Prader Willi Syndrome. Society, family and hereditary factors also influence it. PWS is a disease of altered growth and development. Affected persons are potentially overweight, sexually immature, and short and developmentally delayed individuals. The… Read More »
Table of contents: Introduction: Nature of Prader Willi Syndrome: Etiology and Pathogenesis: Genetics of Prader Willi Syndrome: Animal Model: Diagnostic Criteria: Case Study: Management: Conclusion: