OBJECTIVE: Our objective was to characterize sleep-disordered breathing in 88 children with achondroplasia aged 1 month to 12.6 years. RESULTS: At the time of their initial polysomnography, five children had previously undergone tracheostomy, and seven children required supplemental oxygen. Initial polysomnography demonstrated a median obstructive apnea index of 0 (range, 0 to 19.2 apneas/hr). The median number of central apneas with desaturation per study was 0.5 (0 to 49), the median oxygen saturation nadir was 91% (50% to 99%), and the median peak end-tidal pCO2 was 47 mm Hg (36 to 87 mm Hg). Forty-two children (47.7%) had abnormal initial study results, usually caused by hypoxemia. Two children with severe obstructive sleep apnea eventually required continuous positive airway pressure therapy, and three additional children required tracheostomies. CONCLUSIONS: (1) Children with achondroplasia often have sleep-related respiratory disturbances, primarily hypoxemia. (2) The majority do not have significant obstructive or central apnea; however, a substantial minority are severely affected. (3) Tonsillectomy and adenoidectomy decreases the degree of upper airway obstruction in most but not all children with achondroplasia and obstructive sleep apnea. (4) Restrictive lung disease can present at a young age in children with achondroplasia.
OBJECTIVE: Our objective was to characterize sleep-disordered breathing in 88 children with achondroplasia aged 1 month to 12.6 years. RESULTS: At the time of their initial polysomnography, five children had previously undergone tracheostomy, and seven children required supplemental oxygen. Initial polysomnography demonstrated a median obstructive apnea index of 0 (range, 0 to 19.2 apneas/hr). The median number of central apneas with desaturation per study was 0.5 (0 to 49), the median oxygen saturation nadir was 91% (50% to 99%), and the median peak end-tidal pCO2 was 47 mm Hg (36 to 87 mm Hg). Forty-two children (47.7%) had abnormal initial study results, usually caused by hypoxemia. Two children with severe obstructive sleep apnea eventually required continuous positive airway pressure therapy, and three additional children required tracheostomies. CONCLUSIONS: (1) Children with achondroplasia often have sleep-related respiratory disturbances, primarily hypoxemia. (2) The majority do not have significant obstructive or central apnea; however, a substantial minority are severely affected. (3) Tonsillectomy and adenoidectomy decreases the degree of upper airway obstruction in most but not all children with achondroplasia and obstructive sleep apnea. (4) Restrictive lung disease can present at a young age in children with achondroplasia.
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
Authors: Merrill S Wise; Cynthia D Nichols; Madeleine M Grigg-Damberger; Carole L Marcus; Manisha B Witmans; Valerie G Kirk; Lynn A D'Andrea; Timothy F Hoban Journal: Sleep Date: 2011-03-01 Impact factor: 5.849
Authors: R Nisha Aurora; Rochelle S Zak; Anoop Karippot; Carin I Lamm; Timothy I Morgenthaler; Sanford H Auerbach; Sabin R Bista; Kenneth R Casey; Susmita Chowdhuri; David A Kristo; Kannan Ramar Journal: Sleep Date: 2011-03-01 Impact factor: 5.849
Authors: Jason Kennedy; Gail Jackson; Simon Ramsden; Jacky Taylor; William Newman; Michael J Wright; Dian Donnai; Rob Elles; Michael D Briggs Journal: Eur J Hum Genet Date: 2005-05 Impact factor: 4.246