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1. プラダーウィリ症候群の臨床的特徴、診断、および治療 clinical features diagnosis and treatment of prader willi syndrome
2. プラダーウィリ症候群の疫学および遺伝学 epidemiology and genetics of prader willi syndrome
3. 微細欠失症候群（12番～22番染色体） microdeletion syndromes chromosomes 12 to 22
4. グレリン ghrelin
5. 知的障害（精神遅滞）をもつ成人のプライマリケア primary care of the adult with intellectual disability mental retardation

A review of chemosensory perceptions, food preferences and food-related behaviours in subjects with Prader-Willi Syndrome.

Martínez Michel L1, Haqq AM2, Wismer WV3.
Appetite.Appetite.2016 Apr 1;99:17-24. doi: 10.1016/j.appet.2015.12.021. Epub 2015 Dec 20.
Hyperphagia and obsessive preoccupation with food are hallmark characteristics of Prader-Willi Syndrome (PWS). Although hyperphagia in PWS is linked to hypothalamic dysfunction, the underlying mechanisms behind this problem are poorly understood. Moreover, our understanding of how chemosensory perce
PMID 26713776

Anxiety and depression symptomatology in adult siblings of individuals with different developmental disability diagnoses.

O'Neill LP1, Murray LE2.
Research in developmental disabilities.Res Dev Disabil.2016 Apr-May;51-52:116-25. doi: 10.1016/j.ridd.2015.12.017. Epub 2016 Jan 25.
Factors predicting the emotional well-being of adult siblings of those with developmental disability (DD) remain under-researched. In this study adult siblings of individuals with Down's syndrome (DS), autism (ASD), Prader-Willi syndrome (PWS) and those with DD but with unknown aetiology (DUA) were
PMID 26820453

Deficits in voice and multisensory processing in patients with Prader-Willi syndrome.

Salles J1, Strelnikov K2, Carine M3, Denise T4, Laurier V4, Molinas C3, Tauber M5, Barone P6.
Neuropsychologia.Neuropsychologia.2016 Mar 16. pii: S0028-3932(16)30078-1. doi: 10.1016/j.neuropsychologia.2016.03.015. [Epub ahead of print]
Prader-Willi syndrome (PWS) is a rare neurodevelopmental and genetic disorder that is characterized by various expression of endocrine, cognitive and behavioral problems, among which a true obsession for food and a deficit of satiety that leads to hyperphagia and severe obesity. Neuropsychological s
PMID 26994593

白石昌久,松原圭子,村上信行,永井敏郎
Dokkyo journal of medical sciences 41(1), 45-52, 2014-03-25
PWS患者における年間の致死率は約3%と高率であり,死亡原因が明らかでない突然死症例の報告も散見される.このような突然死の原因のひとつとして,中枢性副腎機能障害(central adrenal insufficiency:CAI)の潜在が懸念されている.我々は,日本人PWS患者36名(女性12名,男性24名,年齢7カ月-59歳)に対し,インスリン負荷試験による副腎機能評価を行った.ACTH基礎値は …
NAID 110009783345