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Diagnosis and management of sleep disorders in Prader-Willi syndrome.
Duis J, Pullen LC, Picone M, Friedman N, Hawkins S, Sannar E, Pfalzer AC, Shelton AR, Singh D, Zee PC, Glaze DG, Revana A. Duis J, et al. J Clin Sleep Med. 2022 Jun 1;18(6):1687-1696. doi: 10.5664/jcsm.9938. J Clin Sleep Med. 2022. PMID: 35172921 Free PMC article. Review.
PWS is a rare neuroendocrine disorder characterized by early hypotonia and feeding difficulties; developmental delays; endocrinopathies; and behavioral concerns, especially rigidity, anxiety, and behavioral outbursts. PWS is also characterized by decreased resting e …
PWS is a rare neuroendocrine disorder characterized by early hypotonia and feeding difficulties; developmental delays; endocri …
Growth hormone treatment for Prader-Willi syndrome: A review.
Yang X. Yang X. Neuropeptides. 2020 Oct;83:102084. doi: 10.1016/j.npep.2020.102084. Epub 2020 Aug 21. Neuropeptides. 2020. PMID: 32859387 Review.
The Prader-Willi Syndrome (PWS) is a rare developmental disorder that contributed by multiple genes. Phenotypically, infants with PWS exhibit hypotonia and developmental delay, whilst older children and adults have cognitive impairments, neuropsychiatric symp …
The Prader-Willi Syndrome (PWS) is a rare developmental disorder that contributed by multiple genes. Phenotypically, infants with PWS …
Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management.
Shoemaker A. Shoemaker A. Diabetes Obes Metab. 2024 Apr;26 Suppl 2:25-33. doi: 10.1111/dom.15494. Epub 2024 Feb 21. Diabetes Obes Metab. 2024. PMID: 38383825 Review.
Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developmental delay and vision loss due to rod-cone dystrophy. ...In BBS, receptor trafficking in and out of the cilia is compro …
Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, …
Genotype-phenotype correlation in Prader-Willi syndrome: A large-sample analysis in China.
Mao S, Yang L, Gao Y, Zou C. Mao S, et al. Clin Genet. 2024 Apr;105(4):415-422. doi: 10.1111/cge.14477. Epub 2024 Jan 23. Clin Genet. 2024. PMID: 38258470
The rates of obesity and hyperphagia in the deletion group were also higher than those in the non-deletion group (71.1% vs. 58.9%, p = 0.041; 75.7% vs. 62.0%, p = 0.016). There are significant differences in the rates of skin hypopigmentation and language develop …
The rates of obesity and hyperphagia in the deletion group were also higher than those in the non-deletion group (71.1% vs. 58 …
Effects of early recombinant human growth hormone treatment in young Chinese children with Prader-Willi syndrome.
Gao Y, Yang LL, Dai YL, Shen Z, Zhou Q, Zou CC. Gao Y, et al. Orphanet J Rare Dis. 2023 Feb 7;18(1):25. doi: 10.1186/s13023-023-02615-7. Orphanet J Rare Dis. 2023. PMID: 36750945 Free PMC article.
BACKGROUND: Prader-Willi syndrome (PWS) is a rare and multisystemic genetic disorder that is characterized by severe hypotonia, hyperphagia, short stature, and global developmental delay. Although early recombinant human growth hormone (rhGH) treatment has be …
BACKGROUND: Prader-Willi syndrome (PWS) is a rare and multisystemic genetic disorder that is characterized by severe hypotonia, hyperphag …
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.
Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB. Gunay-Aygun M, et al. Pediatrics. 2001 Nov;108(5):E92. doi: 10.1542/peds.108.5.e92. Pediatrics. 2001. PMID: 11694676
The sensitivities of the major criteria ranged from 49% (characteristic facial features) to 98% (developmental delay). Global developmental delay and neonatal hypotonia were the 2 most consistently positive major criteria and were positive in >97% o …
The sensitivities of the major criteria ranged from 49% (characteristic facial features) to 98% (developmental delay). Global …
Cognitive profile in a large French cohort of adults with Prader-Willi syndrome: differences between genotypes.
Copet P, Jauregi J, Laurier V, Ehlinger V, Arnaud C, Cobo AM, Molinas C, Tauber M, Thuilleaux D. Copet P, et al. J Intellect Disabil Res. 2010 Mar;54(3):204-15. doi: 10.1111/j.1365-2788.2010.01251.x. Epub 2010 Feb 2. J Intellect Disabil Res. 2010. PMID: 20136683
BACKGROUND: Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by developmental abnormalities leading to somatic and psychological symptoms. These include dysmorphic features, impaired growth and sexual maturation, hyperphagia, intellectual dela …
BACKGROUND: Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by developmental abnormalities leading to somatic an …