Frequency of the Prader-Willi syndrome in the San-in district, Japan

Ehara, Hiroaki; Ohno, Kousaku; Takeshita, Kenzo

doi:10.1016/0387-7604(95)00060-o

Cited by 39 publications

(25 citation statements)

References 14 publications

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“…In conclusion, the INSUP study is the first population survey that was undertaken in order to establish all cases of genetically confirmed diagnosis of PWS country-wide; previous epidemiological studies have consisted of smaller populations and limited age groups [Burd et al, 1990;Akefeldt et al, 1991;Ehara et al, 1995;Whittington et al, 2001;. The present survey was large enough to look at prevalence of obesity in our PWS population as well as to analyze the impact of GH administration and to evaluate the causes of death with or without GH treatment.…”

Section: Discussionmentioning

confidence: 92%

The Italian National Survey for Prader–Willi syndrome: An epidemiologic study

Grugni

Crinò

Bosio

et al. 2008

American J of Med Genetics Pt A

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Twenty-five medical centers and the Prader-Willi Syndrome (PWS) Association collaborated on a study which attempted to identify all people with genetically confirmed diagnosis of PWS living in Italy. Investigators of the participating centers contacted PWS subjects and/or their family, filled in a specially developed form with the required data and forwarded this information by email. The study identified 425 subjects (209 males and 216 females, between the ages of 0.4-46.7). Two hundred thirty-eight patients had del15, 104 had UPD15, 4 demonstrated a translocation affecting chromosome 15 and 79 showed a positive methylation test. There were fewer subjects found over the age of 35, probably due to the low rate of identification of older PWS patients as well as the high mortality rate. There were a greater number of male children and adolescents with PWS whilst, amongst adults, there were more females. As expected, the majority of subjects with PWS were obese, especially in adult life. Nevertheless, it is noteworthy that 26% of patients aged between 6 and 17 were normal weight. A total of 212 subjects had received GH treatment, of which 141 were still receiving therapy, while the remaining 71 had stopped. In children and adolescents (233 cases), 89 subjects had never undergone GH therapy. Eighteen PWS patients had died in the past 20 years. Obesity-related cardiovascular and respiratory diseases were the cause of death, both during childhood and after 18 years of age. Three children died suddenly whilst undergoing GH therapy. Respiratory infection and cardiac illness were the causes of death in two cases. There was no definitive cause of death found in the third case. Overall, there was no increase in number of deaths during GH treatment, suggesting that GH administration in patients with PWS, as a group, does not increase the risk of death. ß

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Section: Discussionmentioning

confidence: 92%

The Italian National Survey for Prader–Willi syndrome: An epidemiologic study

Grugni

Crinò

Bosio

et al. 2008

American J of Med Genetics Pt A

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“…PWS is defined as a rare syndrome: several studies suggest a moderate frequency and a prevalence generally between 1:26,676 [4] or 1:22,000 [5,6] and 1:16,062 [7][8][9][10], occurring in both sexes and in all ethnic groups.…”

Section: Discussionmentioning

confidence: 99%

Sudden cardiac death in a child affected by Prader-Willi syndrome

et al. 2005

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A case of sudden cardiac death in a 3-year-old young male affected by Prader-Willi syndrome, clinically diagnosed and confirmed by means of DNA methylation, is presented. The infant suddenly collapsed at home and was taken apparently unconsciousness by his mother to the emergency clinic where he was pronounced dead. A complete postmortem examination was performed and the histological findings led to the definition of cardiac death with a typical picture of contraction band necrosis. Pulmonary hypoxic alterations are frequently reported as the primary cause of death in PWS cases. In this fatal case according to the macroscopic and microscopic findings, the cause of death was most likely cardiac and possibly related to contraction band necrosis linked with ventricular fibrillation and sudden death.

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“…In contrast, an increase in live birth prevalence of this syndrome has been reported in Japan [Hoshi et al, 1999;Seto et al, 2003]. Numerous epidemiological studies into pediatric neurological diseases including tuberous sclerosis [Ohno et al, 1981], Duchenne muscular dystrophy [Takeshita et al, 1987], Prader-Willi syndrome [Ehara et al, 1995], spina bifida [Ehara et al, 1998], and DS [Toyofuku et al, 1980;Ieshima et al, 1983], have previously been carried out in Tottori Prefecture or San-in district (Tottori and Shimane Prefectures), providing a platform for further research. Kuroki et al [1977] reported that the incidence of DS between 1970 and 1973 fell compared to that between 1950 and 1954, due to a trend for decreasing maternal age in the general Japanese population.…”

Section: Introductionmentioning

confidence: 85%

Live birth prevalence of Down syndrome in Tottori, Japan, 1980–1999

Takeuchi¹,

Ehara²,

Ohtani³

et al. 2008

American J of Med Genetics Pt A

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One hundred sixty-four patients with Down syndrome (DS) were confirmed in Tottori Prefecture, Japan, from 1980 to 1999. The sex ratio of 1.52 (99 males and 65 females) was comparable to that reported in previous studies. The live birth prevalence per 1,000 was 1.52 (95% CI: 1.29-1.75) from 1980 to 1999, with a prevalence of 1.34 (95% CI: 1.05-1.63) recorded between 1980 and 1989, and 1.74 (95% CI: 1.37-2.11) between 1990 and 1999. There was no statistically significant change between these two decades (chi(2)-test). Live birth prevalence in these two decades showed a significant increase (chi(2)-test, P < 0.005) compared with that recorded in 1969-1978 in Tottori Prefecture (0.803, 95% CI: 0.677-0.929). Mean ages of mothers at the birth of a DS patient were 31.0 years in 1980-1989 and 32.4 years in 1990-1999 (t-test, no significant difference). Dispersion analysis on the mean age of mothers at birth for patients born between 1969-1978, 1980-1989, and 1990-1999 showed a significant difference (t-test, P < 0.005), while comparing the mean age of mothers in 1969-1978 to those in 1990-1999 also revealed a significant difference (t-test, P < 0.001). Live birth prevalence has increased due to the rise in fertility rates among older women, although maternal age-specific risk rates remain unchanged. The widespread introduction of induced abortion following prenatal diagnosis decreased live birth prevalence of DS largely in European (and a few Asian) countries after 1990, or kept prevalence steady, despite increasing fertility rates among women aged 30 and over. In contrast, all published studies have reported an increase in live birth prevalence of this syndrome in Japan, probably resulting from the fact that prenatal diagnoses are used only exceptionally in this country (due to the negative attitude toward selection of life in Japanese culture).

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Frequency of the Prader-Willi syndrome in the San-in district, Japan

Cited by 39 publications

References 14 publications

The Italian National Survey for Prader–Willi syndrome: An epidemiologic study

The Italian National Survey for Prader–Willi syndrome: An epidemiologic study

Sudden cardiac death in a child affected by Prader-Willi syndrome

Live birth prevalence of Down syndrome in Tottori, Japan, 1980–1999

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