From that I learned that the syndrome got its name from Swiss doctors, Prof Prader and Dr Willi along with a Dr Labhart whose name got dropped somewhere along the way who had first described the syndrome in Much of the booklet was quite horrifying, and I found there were parts of it I could not look at for long. According to this, my angelic little girl was going to change into a ravening monster, who ate everything in her path, and alongside of that would have severe outbursts of temper and rage.
What was more, she would never develop to maturity sexually, would not have children and would be shorter than average. How could this possibly happen? It happens, I now know, because the genetic abnormality in PWS affects the hypothalamus area of the brain. This in turn controls a number of hormones which affect appetite, growth, sleep and emotions. I vowed that I would do everything I could to help my daughter overcome this nightmare. At that time, little was known about the life path of adults with PWS — the received wisdom was that the weight would continue to pile on and few people lived past I suggested that I could carry out a survey of those parents we were in contact who had adult sons and daughters with PWS.
A psychiatrist from Birmingham, Dr David Clarke, became interested in what I was doing, and the results were ultimately published [i] in And so I became by default the Information Officer for PWSA UK, working in a voluntary capacity until and then as a paid employee, sometimes part time and sometimes full time. My current role is Support Team Manager. Our support team helps families and people with PWS get the support and care they need, answers their queries about every aspect of life with PWS, and training professional care staff.
I have learned that PWS is an incredibly complex condition which affects only around people in the UK. Fortunately it is rarely hereditary. Educational Support. Phone Assistance. Annual Events and Educational Training. Professional Service Provider Recognition. Scholarships and General Assistance. New Diagnosis. Resources What is PWS?
Home Page - Foundation for Prader-Willi Research
PWS Informational Handouts. Resources by Subject. Annual Reports. We contacted corresponding authors of the studies for additional information as needed. The studies were excluded for meta-analysis if required data were incomplete. Two reviewers independently screened all studies for those requiring further retrieval full text or abstract , and then independently reviewed these studies to identify whether they met the inclusion criteria.
About Prader-Willi Syndrome
Disagreements regarding trial eligibility were discussed and resolved by two reviewers. I 2 statistics were used to measure heterogeneity of the studies. Potential publication bias was investigated by visual assessment of the funnel plot plots of effect estimates against sample size. Metaanalyses and funnel plot calculation were performed using Review Manager software version 5.
Statistical significance was determined if the 2-sided P value was less than 0. Seventy-seven reviews, 24 animal studies, and 71 single case reports were immediately removed. A total of 22 articles were removed due to language barrier and articles without Prader-willi in their title were removed.
Ninety three studies were duplicated in two databases.
One hundred fifty studies did not meet the inclusion criteria or because of incomplete data in the papers. After these careful filtering, a total of 13 studies [ 11 , 19 , 21 , 24 — 33 ] met the inclusion criteria of the meta-analyses. Flow chart of articles screening is presented in Figure 1. There are PWS cases in 13 studies. Among them, PWS patients with 15qq13 paternal deletion The distribution of three molecular defects is consistent with other studies in general but with a slightly higher percentage of mUPD [ 34 ].
The characteristics of included studies are available in Table 1. Six studies [ 11 , 21 , 27 , 30 , 32 , 33 ] were carried out in the USA, four [ 26 , 28 , 29 , 31 ] in the UK, two [ 24 , 25 ] in Netherlands, one [ 19 ] in Belgium. Five studies [ 11 , 24 — 26 , 31 ] reported psychiatric illness: 3 studies [ 24 , 26 , 31 ] used the ICD criteria for the diagnosis and 2 studies [ 11 , 25 ] used psychiatric diagnosis in medical records.
In 3 studies [ 11 , 27 , 30 ], the paternal deletions of 15qq13 are further divided into class I and class II deletion II based on the genomic locations of breakpoints as previously described [ 30 , 35 ]. Weighted average method was used to combine the IQ scores of the two deletion subgroups. Table 1. Descriptive characteristics of the included studies. These studies encompassed cases with the paternal deletion and cases with mUPD. These studies included cases with paternal deletion and cases with mUPD. These studies encompassed cases with the paternal deletion and 84 cases with mUPD.
Funnel plot for publication bias about psychiatric illness is presented in Figure 6.
12222 Minnesota Golf Scramble for Prader-Willi Syndrome
Five studies [ 11 , 24 — 26 , 31 ] reported prevalence of psychosis in PWS patients with 15qq13 paternal deletion or mUPD. Two studies [ 24 , 26 ] reported prevalence of depressive psychosis in PWS patients with 15qq13 paternal deletion or mUPD. These studies encompassed 77 cases with the paternal deletion and 66 cases with mUPD.
Two studies [ 24 , 26 ] reported prevalence of bipolar illness in PWS patients with 15qq13 paternal deletion or mUPD. To our knowledge, this is the first meta-analysis to review the psychiatric illness and intellectual abilities in PWS with different types of molecular defects. Our analysis indicates significant differences of clinical presentation related to the neurodevelopment and psychiatric illness between PWS cases with 15qq13 paternal deletion and mUPD.
More specifically, the verbal IQ but not performance IQ is more affected in the cases with 15qq13 deletion.
webdisk.cmnv.org/21424.php Conversely, the psychosis and bipolar disorders are significantly more prevalent in PWS cases with mUPD than that of 15qq13 deletion. These findings not only strengthen the previous impression from small scale studies but also provide new insight that has not reported before.
The immediate question is what contributes to these differences between cases with paternal deletion and mUPD. Human chromosome 15q11—q13 is a domain subject to regulation of genomic imprinting, an epigenetic process in which the expression of genes is depending upon the parent-of-origin [ 36 ]. It is well known that PWS primarily arises from the deficiency of paternally expressed gene or genes in the 15qq13 region. However, it remains a question of debate which genes or genes are responsible for the full spectrum of PWS phenotypes.
These cases have typical clinical features of PWS. However, the neurobehavioral studies have not been evaluated or described in detail. However, how the loss of expression non-coding snoRNAs ultimately leads to the clinical presentations of PWS remains unclear. The molecular difference between paternal deletion and mUPD is clear. Summary of the genetic and expression of chromosomal region 15q11, are presented in Table 3.
In the cases of paternal deletion, the paternally expressed genes in the 15qq13 region are predicted to be completely deficient. The non-imprinted genes in the regions are haploinsufficient in paternal deletion cases. In the mUPD cases, the maternally expressed genes are predicted to be two folds of that in paternal deletion cases and one fold higher than that in normal.