Literature DB >> 27830579

Sleep disordered breathing in children with achondroplasia.

Marco Zaffanello1,2, Gaetano Cantalupo3, Giorgio Piacentini3, Emma Gasperi3, Luana Nosetti4, Paolo Cavarzere3, Diego Alberto Ramaroli3, Aliza Mittal5, Franco Antoniazzi3.   

Abstract

BACKGROUND: Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis). DATA SOURCES: We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep.
RESULTS: Recent findings have highlighted the importance of clinical investigations in patients with achondroplasia, differentiating between those that look for neurological patterns and those that look for respiratory problems during sleep. In particular, magnetic resonance imaging (MRI) and somatosensory evoked potentials are the main tools to evaluate necessary neurosurgery and over myelopathy, respectively.
CONCLUSIONS: The use of polysomnography enables clinicians to identify children with upper airway obstruction and to quantify disease severity; it is not suitable for MRI and/or neurosurgery considerations.

Entities:  

Keywords:  achondroplasia; children; polysomnography; sleep disordered breathing; upper respiratory tract obstruction

Mesh:

Year:  2016        PMID: 27830579     DOI: 10.1007/s12519-016-0051-9

Source DB:  PubMed          Journal:  World J Pediatr            Impact factor:   2.764


  59 in total

1.  Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?

Authors:  Klane K White; Shawn E Parnell; Yemiserach Kifle; Marcella Blackledge; Viviana Bompadre
Journal:  Am J Med Genet A       Date:  2015-09-23       Impact factor: 2.802

2.  The genetic basis of dwarfism.

Authors:  C A Francomano
Journal:  N Engl J Med       Date:  1995-01-05       Impact factor: 91.245

3.  Airway malacia in children with achondroplasia.

Authors:  Kimberly E Dessoffy; Peggy Modaff; Richard M Pauli
Journal:  Am J Med Genet A       Date:  2013-12-05       Impact factor: 2.802

4.  Prevalence and risk factors for sleep-disordered breathing in 8- to 11-year-old children: association with race and prematurity.

Authors:  Carol L Rosen; Emma K Larkin; H Lester Kirchner; Judith L Emancipator; Sarah F Bivins; Susan A Surovec; Richard J Martin; Susan Redline
Journal:  J Pediatr       Date:  2003-04       Impact factor: 4.406

5.  Breathing abnormalities in sleep in achondroplasia.

Authors:  K A Waters; F Everett; D Sillence; E Fagan; C E Sullivan
Journal:  Arch Dis Child       Date:  1993-08       Impact factor: 3.791

6.  The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US.

Authors:  D K Waller; A Correa; Tuan M Vo; Y Wang; C Hobbs; P H Langlois; K Pearson; P A Romitti; G M Shaw; J T Hecht
Journal:  Am J Med Genet A       Date:  2008-09-15       Impact factor: 2.802

Review 7.  Irreversible respiratory failure in an achondroplastic child: the importance of an early cervicomedullary decompression, and a review of the literature.

Authors:  V Colamaria; C Mazza; A Beltramello; A Polo; A Boner; F Antoniazzi; M Polo; P Luchini; V Sgrò; B Dalla Bernardina
Journal:  Brain Dev       Date:  1991-07       Impact factor: 1.961

Review 8.  Diagnosis and management of childhood obstructive sleep apnea syndrome.

Authors:  Carole L Marcus; Lee Jay Brooks; Kari A Draper; David Gozal; Ann Carol Halbower; Jacqueline Jones; Michael S Schechter; Sally Davidson Ward; Stephen Howard Sheldon; Richard N Shiffman; Christopher Lehmann; Karen Spruyt
Journal:  Pediatrics       Date:  2012-08-27       Impact factor: 7.124

9.  Clinical guidelines for the use of unattended portable monitors in the diagnosis of obstructive sleep apnea in adult patients. Portable Monitoring Task Force of the American Academy of Sleep Medicine.

Authors:  Nancy A Collop; W McDowell Anderson; Brian Boehlecke; David Claman; Rochelle Goldberg; Daniel J Gottlieb; David Hudgel; Michael Sateia; Richard Schwab
Journal:  J Clin Sleep Med       Date:  2007-12-15       Impact factor: 4.062

10.  Neurosurgical implications of achondroplasia.

Authors:  James A J King; Shobhan Vachhrajani; James M Drake; James T Rutka
Journal:  J Neurosurg Pediatr       Date:  2009-10       Impact factor: 2.375

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  6 in total

1.  Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records.

Authors:  Marco Zaffanello; Giorgio Piacentini; Luca Sacchetto; Angelo Pietrobelli; Emma Gasperi; Marco Barillari; Nicolò Cardobi; Luana Nosetti; Diego Ramaroli; Franco Antoniazzi
Journal:  Med Princ Pract       Date:  2018-06-21       Impact factor: 1.927

Review 2.  Sleep in Children with Congenital Malformations of the Central Nervous System.

Authors:  Jacqueline F Yates; Matthew M Troester; David G Ingram
Journal:  Curr Neurol Neurosci Rep       Date:  2018-05-23       Impact factor: 5.081

3.  A registry of achondroplasia: a 6-year experience from the Czechia and Slovak Republic.

Authors:  Martin Pesl; Hana Verescakova; Linda Skutkova; Jana Strenkova; Pavel Krejci
Journal:  Orphanet J Rare Dis       Date:  2022-06-16       Impact factor: 4.303

Review 4.  International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Authors:  Ravi Savarirayan; Penny Ireland; Melita Irving; Dominic Thompson; Inês Alves; Wagner A R Baratela; James Betts; Michael B Bober; Silvio Boero; Jenna Briddell; Jeffrey Campbell; Philippe M Campeau; Patricia Carl-Innig; Moira S Cheung; Martyn Cobourne; Valérie Cormier-Daire; Muriel Deladure-Molla; Mariana Del Pino; Heather Elphick; Virginia Fano; Brigitte Fauroux; Jonathan Gibbins; Mari L Groves; Lars Hagenäs; Therese Hannon; Julie Hoover-Fong; Morrys Kaisermann; Antonio Leiva-Gea; Juan Llerena; William Mackenzie; Kenneth Martin; Fabio Mazzoleni; Sharon McDonnell; Maria Costanza Meazzini; Josef Milerad; Klaus Mohnike; Geert R Mortier; Amaka Offiah; Keiichi Ozono; John A Phillips; Steven Powell; Yosha Prasad; Cathleen Raggio; Pablo Rosselli; Judith Rossiter; Angelo Selicorni; Marco Sessa; Mary Theroux; Matthew Thomas; Laura Trespedi; David Tunkel; Colin Wallis; Michael Wright; Natsuo Yasui; Svein Otto Fredwall
Journal:  Nat Rev Endocrinol       Date:  2021-11-26       Impact factor: 47.564

Review 5.  Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders.

Authors:  Marco Zaffanello; Franco Antoniazzi; Laura Tenero; Luana Nosetti; Michele Piazza; Giorgio Piacentini
Journal:  Ann Transl Med       Date:  2018-09

Review 6.  Sleep Disorders in Childhood Neurogenetic Disorders.

Authors:  Laura Beth Mann Dosier; Bradley V Vaughn; Zheng Fan
Journal:  Children (Basel)       Date:  2017-09-12
  6 in total

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