DOI: https://doi.org/10.22141/2224-0551.4.64.2015.75347

Prader-Willie Syndrome in the Practice of Pediatrician. Modern Approaches to the Diagnosis and Treatment

T.M. Khimenko, A.O. Adakhovska

Abstract


Objective. To familiarize the doctors with diagnostic criteria and modern comprehensive approach to the treatment of children with Prader-Willie syndrome. The problems of treatment with growth hormone, social integration of patients were stressed, a clinical case from practice is presented. The analysis of the scientific literature of leading foreign and domestic authors has been carried out. The article presents the current approaches to early diagnosis based on large and small diagnostic criteria already at the first months of life, indications for molecular-genetic testing by fish-method to detect microdeletions of chromosome 15. A case of Prader-Willi syndrome demonstrates the typical clinical manifestations, the need for a multidisciplinary approach and continuous monitoring of patients. Conclusions. Prader-Willi syndrome has characteristic features that can be detected in most patients during the first six months of life, which will made it possible to carry out timely correction of metabolic and hormonal disorders and to improve quality of life. To clarify the diagnosis, genetic testing, which today became available in most regions of Ukraine, is successfully performed. The question of supporting hormone therapy that enables to adjust significantly the phenotype of patients with Prader-Willi syndrome, providing adequate physical development, is still open. Long-term use of recombinant growth hormone can prevent a number of complications characteristic of the syndrome, and to improve the quality of life for patients in the future.

Keywords


Prader-Willie syndrome; diagnosis and treatment; growth hormone.

References


Medical management for adults with Prader-Willi syndrome / Hauber M., Stratmann B., Hoedebeck-Stuntebeck N., Tschoepe D. // Metab. Syndr. Relat. Disord. — 2013 Dec. — 11(6). — 392-6.

Prader-Willi syndrome as a model of human hyperphagia / Tauber M., Diene G., Mimoun E., Çabal-Berthoumieu S., Mantoulan C., Molinas C., Muscatelli F., Salles J.P. // Front Horm. Res. — 2014. — 42. — 93-106.

Sarda P. Prader-Willi syndrome / P. Sarda // Soins Pediatr. Pueric. — 2013 Sep-Oct. — 274. — 20-3.

Rice L.J. Cognitive and behavioural aspects of Prader-Willi syndrome / Rice L.J., Einfeld S.L. // Curr. Opin. Psychiatry. — 2015 Mar. — 28(2). — 102-6.

Prenatal diagnosis of Prader-Willi syndrome and Angelman syndrome for fetuses with suspicious deletion of chromosomal region 15q11-q13 / Chang C.W., Hsu H.K., Kao C.C., Huang J.Y., Kuo P.L. // Int. J. Gynaecol. Obstet. — 2014 Apr. — 125(1). — 18-21.

Prader-Willi syndrome / Cassidy S.B., Schwartz S., Miller J.L., Driscoll D.J. // Genet Med. — 2012 Jan. — 14(1). — 10-26.

Cassidy S.B. Prader-Willi syndrome / Cassidy S.B., Driscoll D.J. // Eur. J. Hum. Genet. — 2009 Jan. — 17(1). — 3-13.

Cassidy S.B. Prader-Willi and Angelman syndromes: sister imprinted disorders / Cassidy S.B., Dykens E., Williams C.A. // Am. J. Med. Genet. — 2000. — 97(2). — 136-46.

Everman D.B. Genetics of childhood disorders: XII. Genomic imprinting: breaking the rules / D.B. Everman, S.B. Cassidy // J. Am. Acad. Child. Adolesc. Psychiatry. — 2000 Mar. — 39(3). — 386-9.

Growth hormone therapy, muscle thickness, and motor development in Prader-Willi syndrome: an RCT / Reus L., Pillen S., Pelzer B.J., van Alfen-van der Velden J.A., Hokken-Koelega A.C., Zwarts M., Otten B.J., Nijhuis-van der Sanden M.W. // Pediatrics. — 2014 Dec. — 134(6). — e1619-27.

Prader-Willi syndrome: A case report and a Chinese literature review / Zhu J., Cao Q., Zhang N., Zhao L. // Intractable Rare Dis. Res. — 2013 Nov. — 2(4). — 123-6.

Prader-Willi syndrome: a case report with atypical developmental features / Sewaybricker L.E., Guaragna-Filho G., Paula G.B., Andrade J.G., Tincani B.J., D’Souza-Li L., Lemos-Marini S.H., Maciel-Guerra A.T., Guerra-Júnior G. // J. Pediatr. Endocrinol. Metab. — 2014 Sep. — 27(9-10). — 983-8.

Sarda P. Prader-Willi syndrome / Sarda P. // Soins. Pediatr. Pueric. — 2013 Sep-Oct. — 274. — 20-3.

Синдромы Прадера — Вилли и Ангельмана: возможности молекулярно-цитогенетической и цитогенетической диагностики / Юров И.Ю., Ворсанова С.Г., Куринная О.С., Колотий А.Д., Демидова И.А., Кравец В.С., Юров Ю.Б. // Журнал неврологии и психиатрии им. C.C. Корсакова. — 2014. — Т. 114, № 1. — С. 49-53.

Особенности ожирения и метаболических нарушений при синдроме Прадера — Вилли у детей / Волеводз Н.Н., Богова Е.А., Немцова М.В., Ермакова М.А., Чернова Т.О., Сазонова Н.И. // Проблемы эндокринологии. — 2014. — Т. 60, № 1. — С. 24-31.

Тозлиян Е.В. Синдром Прадера — Вилли в практике педиатра // Практика педиатра. — 2014. — Т. 2. — С. 32-39.

Богова Е.А. Синдром Прадера — Вилли: новые возможности в лечении детей / Богова Е.А., Волеводз Н.Н. // Проблемы эндокринологии. — 2013. — Т. 59, № 4. — С. 33-40.

Гузева В.И. Клинические трудности диагностики синдрома Прадера — Вилли / Гузева В.И., Бессонова Л.Б., Сеель К.А. // Педиатр. — 2013. — Т. 4, № 2. — С. 81-84.






Copyright (c) 2016 CHILD`S HEALTH

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.

 

© Publishing House Zaslavsky, 1997-2019

 

   Seo анализ сайта