Literature DB >> 32341819

Familial Sleep Disorders in Unknown Genetic Syndrome.

Mara Lelii1, Elena Baggi2, Laura Senatore1, Maria Francesca Bedeschi2, Robertino Dilena2, Maria Iascone3, Silvana Gangi2, Paola Marchisio1, Maria Francesca Patria2.   

Abstract

Sleep-disordered breathing (SDB) is common in children, especially in those with congenital or genetic diseases. The factors involved include obstructive sleep apnea, disrupted rapid eye movement sleep, and central hypoventilation. Diagnosing and treating SDB in these children have a positive impact on the quality of life of them and their families, reducing the risk of both further impairment of cognitive abilities and cardiopulmonary complications. We report a familial case of SDB with central hypoventilation, in which identification of the disorder in the younger sister led to the unfortunately late diagnosis and treatment of the same condition in the older sister. © Thieme Medical Publishers.

Entities:  

Keywords:  genetic syndrome; hypoventilation; sleep-disordered breathing

Year:  2019        PMID: 32341819      PMCID: PMC7183398          DOI: 10.1055/s-0039-1698808

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  12 in total

Review 1.  Sleep-disordered Breathing in Neuromuscular Disease.

Authors:  Loutfi S Aboussouan
Journal:  Am J Respir Crit Care Med       Date:  2015-05-01       Impact factor: 21.405

Review 2.  Sleep Disturbances in Neurodevelopmental Disorders.

Authors:  Althea Robinson-Shelton; Beth A Malow
Journal:  Curr Psychiatry Rep       Date:  2016-01       Impact factor: 5.285

3.  Rules for scoring respiratory events in sleep: update of the 2007 AASM Manual for the Scoring of Sleep and Associated Events. Deliberations of the Sleep Apnea Definitions Task Force of the American Academy of Sleep Medicine.

Authors:  Richard B Berry; Rohit Budhiraja; Daniel J Gottlieb; David Gozal; Conrad Iber; Vishesh K Kapur; Carole L Marcus; Reena Mehra; Sairam Parthasarathy; Stuart F Quan; Susan Redline; Kingman P Strohl; Sally L Davidson Ward; Michelle M Tangredi
Journal:  J Clin Sleep Med       Date:  2012-10-15       Impact factor: 4.062

Review 4.  Respiratory difficulties and breathing disorders in achondroplasia.

Authors:  S Afsharpaiman; A Saburi; Karen A Waters
Journal:  Paediatr Respir Rev       Date:  2013-03-21       Impact factor: 2.726

5.  Sleep disturbances in Angelman syndrome: a questionnaire study.

Authors:  Oliviero Bruni; Raffaele Ferri; Gaetana D'Agostino; Silvia Miano; Michele Roccella; Maurizio Elia
Journal:  Brain Dev       Date:  2004-06       Impact factor: 1.961

6.  Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.

Authors:  Debra E Weese-Mayer; Elizabeth M Berry-Kravis; Lili Zhou; Brion S Maher; Jean M Silvestri; Mark E Curran; Mary L Marazita
Journal:  Am J Med Genet A       Date:  2003-12-15       Impact factor: 2.802

7.  Sleep Disorders and Their Management in Children With Ehlers-Danlos Syndrome Referred to Sleep Clinics.

Authors:  Keren Armoni Domany; Sumalee Hantragool; David F Smith; Yuanfang Xu; Monir Hossain; Narong Simakajornboon
Journal:  J Clin Sleep Med       Date:  2018-04-15       Impact factor: 4.062

8.  NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea.

Authors:  Jamie Campbell; David R FitzPatrick; Tara Azam; Neil A Gibson; Laura Somerville; Shelagh K Joss; Don S Urquhart
Journal:  Pediatrics       Date:  2018-04       Impact factor: 7.124

9.  Sleep disordered breathing and ventilatory support in children with Down syndrome.

Authors:  Federica Trucco; Michelle Chatwin; Thomas Semple; Mark Rosenthal; Andrew Bush; Hui-Leng Tan
Journal:  Pediatr Pulmonol       Date:  2018-07-10

10.  Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study.

Authors:  Martino Pavone; Valeria Caldarelli; Sonia Khirani; Marina Colella; Adriana Ramirez; Guillaume Aubertin; Antonino Crinò; Frédéric Brioude; Frédérique Gastaud; Nicole Beydon; Michèle Boulé; Lisa Giovannini-Chami; Renato Cutrera; Brigitte Fauroux
Journal:  Pediatr Pulmonol       Date:  2015-04-07
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