Contributing factors of mortality in Prader-Willi syndrome

被引：50

作者：

Proffitt, Jennifer ^{[1
,2
]}

Osann, Kathryn ^{[3
]}

McManus, Barbara ^{[4
]}

Kimonis, Virginia E. ^{[1
]}

Heinemann, Janalee ^{[4
]}

Butler, Merlin G. ^{[5
]}

Stevenson, David A. ^{[6
]}

Gold, June-Anne ^{[1
,7
,8
]}

机构：

[1] Univ Calif Irvine, Dept Pediat, Div Genet & Genom, Irvine, CA 92717 USA

[2] Stanford Univ, Med Ctr, Lucile Packard Childrens Hosp, Perinatal Genet Clin, Stanford, CA 94305 USA

[3] Univ Calif Irvine, Dept Med, Div Hematol Oncol, Irvine, CA 92717 USA

[4] Prader Willi Syndrome Assoc, Sarasota, FL USA

[5] Univ Kansas, Med Ctr, Dept Psychiat Behav Sci & Pediat, Kansas City, KS 66103 USA

[6] Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA 94305 USA

[7] Univ Loma Linda, Dept Pediat, Div Med Genet, Loma Linda, CA USA

[8] Univ Cambridge, Dept Clin Genet, Cambridge, England

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2019年 / 179卷 / 02期

关键词：

cardiac and respiratory failure; growth hormone; mortality; obesity; Prader-Willi syndrome; GROWTH-HORMONE TREATMENT; BODY-COMPOSITION; ANGELMAN-SYNDROMES; MOTOR DEVELOPMENT; GENETIC SUBTYPES; BIRTH INCIDENCE; CHILDREN; DEATH; ADULTS; PREVALENCE;

D O I：

10.1002/ajmg.a.60688

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Prader-Willi syndrome (PWS) is a multi-system disorder resulting from a lack of paternal gene expression in the 15q11.2-q13 region. Using databases compiled through response questionnaires completed by families known to the Prader-Willi Syndrome Association (USA), this study tested the hypothesis that PWS genetic subtype, BMI, age of diagnosis, clinical symptoms, and growth hormone treatment differ among deceased and living individuals with PWS. Categorical and continuous variables were compared using chi-square and two-group t tests, respectively. Deceased individuals had higher rates of clinical features, including increased weight concerns, heart problems, sleep apnea, other respiratory complications, diabetes, osteoporosis, high pain tolerance, and severe skin picking, when compared to living individuals. Meanwhile, living individuals had higher rates of growth hormone use and early puberty. Obesity and subsequent consequences are the primary contributors to increased mortality in PWS. Additional emphasis on areas to decrease mortality is needed.

引用

页码：196 / 205

页数：10

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