It is caused by uniparental disomy as a result of failure of expression of paternally inherited genes of chromosome 15. Physical signs and symptoms include distinctive facial features with narrow bifrontal diameter, up…
ort stature, temperature dys-regulations, osteoporosis, scoliosis, growth hormone insufficiency (Cassidy and Driscoll, 2009), mental retardation, developmental disabilities, high pain threshold, skin picking(Yearwood etal., 2011) and behavioral characteristics such as compulsive behavior, psychiatric disorders and cognitive delays. Neonatal and infants show lethargy, poor reflexes, feeding, sucking problems and poor weight gain.
PWS has an incidence of 1 in 10,000-29,000 people worldwide (Yearwood et al., 2011) while in U.S. its occurrence is reported to be1 per 16,000-25,000 population (Butler, 1996). It is prevalent in all races and both genders. Cassidy and Driscoll (2009) have reported an estimated death rate of 3% per year in a population study. Research suggests frequent causes of death in PWS patients (approx 60%) are cardiovascular disorders and stroke along with complications related to obesity, respiratory disorders, shock pneumonia and hypoventilation (Yearwood et al., 2011).
PWS is a consequence of abnormalities of imprinted region of proximal 15q. Research suggests an uncertain relationship between genetics and clinical signs of PWS. It can arise from either paternal or maternal factors however; around 70% of the cases are attributed to paternal inheritance involving a missing gene from chromosome 15 in areas of 15q11-q13. 20% of the cases occur due to maternal uniparental disomy i.e. inaccurate inheritance of two copies of chromosome 15 from the mother. Rest of the cases (3-5%) is considered to be caused either by mutation in imprinting process (Cassidy, 1997) or a rearrangement in structure of chromosome (Yearwood et al., 2011).
For accurate diagnosis of PWS genetic testing is recommended. These include FISH (fluorescence in situ hybridization) which identifies deletions, translocations, chromosomal alterations etc, High resolution chromosomal analysis test which is helpful in detection of chromosomal deletions, abnormalities, translocations and ...
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Although many efforts have been implemented to discourage mothers from consuming alcohol during their pregnancy, cases of children with FAS never seem to cease. Children with FAS have particular facial characteristics, and most demonstrate impaired learning abilities.
Clinical manifestations of this disease include hypotonia, hypo-gonadism(small genitalia, absent or delayed pubertal development, infertility), hyper-phagia(morbid obesity), sleeping disorders, short stature, temperature dys-regulations, osteoporosis, scoliosis, growth hormone insufficiency (Cassidy and Driscoll, 2009), mental retardation, developmental disabilities, high pain threshold, skin picking(Yearwood etal., 2011) and behavioral characteristics such as compulsive behavior, psychiatric disorders and cognitive delays.
The author also proved a predominant relationship amid SCNIA, DS and GEFS+ spectrum mainly characterized by marked phenotypic inconsistency besides the seizure onset age, seizure types, severity and unpredictable cognitive outcome. Initially, SCN1A mutations were evident in epilepsy syndrome: earlier known as Generalized Epilepsy with Febrile Seizure+.
These disorders include both a component relating to mental functioning and other correlated with individual skills accommodation in their environment. Development is unfortunately reduced and so devoting more time is needed for learning essential, adaptive skills, such as speaking, walking, dressing or eating.
365). There is certainly a need for this type of analysis because, as the authors assess and as the scientific community is already aware, CPAP is often the initial form of treatment presented to patients with OSAS, and this treatment is not an easy of pleasant experience for most individuals suffering from sleep apnea.
It is responsible for functioning of the nervous system and responses to immunity. It has a great impact to the symptoms of the menstrual cycle. This influence makes it a major discussion area on its effectiveness to premenstrual symptoms.
zed quite a number of researchers seeking to make clarifications on how the disease spreads into the body, how it relates with other systems and so on. However, sometimes it may take long to conduct a prospective or retrospective study, as the prevalence of the condition is
It is a form of mental illness that often aflicts the mother or caretaker who normally has a medical background and has the ability to fake the cause of illness while at home. The illness then disappears once the child or senior is taken to the hospital for medical
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