Sleep-disordered breathing and its management in children with achondroplasia
retrospective study; school child; preschool child; human; child; clinical article; surgery; prevalence; apnea hypopnea index; achondroplasia; adenotonsillectomy; neurosurgery; polysomnography; sleep disordered breathing; apnea monitoring; bone dysplasia; upper respiratory tract; breathing difficulties; surgical interventions; physical interventions; ENT surgery; CPAP; BiPAP; cervical decompression; obstructive sleep apnea
Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our study was to review the poly(somno)graphic (P(S)G) findings and consequent treatments in children with achondroplasia followed in the national reference center for skeletal dysplasia. A retrospective review of the clinical charts and P(S)G of 43 consecutive children (mean age 3.9 +/- 3.5 years) with achondroplasia seen over a period of 2 years was performed. Twenty four (59%) children had obstructive sleep apnea (OSA). Thirteen children had an obstructive apnea-hypopnea index (OAHI) < 5/hr, four had an OAHI between 5 and 10/hr, and seven had an OAHI > 10/hr. Ten of the 15 children who had previous upper airway surgery still had an abnormal P(S)G. All the patients with an AHI > 10/hr were under 7 years of age and none had a prior tonsillectomy. The children who underwent adeno-tonsillectomy, coupled in most cases with turbinectomy, were significantly older (mean age 7.5 +/- 3.5 vs. 3.5 +/- 1.7 years old, P = 0.015) and had significantly better P(S)G results than those who underwent only adeno-turbinectomy. No correlation was observed between the mean AHI value at the baseline P(S)G and the type of academic course (standard, supported or specialized). In conclusion, OSA is common in children with achondroplasia. The observation of a reduced prevalence of OSA after (adeno-)tonsillectomy is in favor of this type of surgery when possible. Copyright © 2017 Wiley Periodicals, Inc.
Tenconi R; Khirani S; Amaddeo A; Michot C; Baujat G; Couloigner V; De Sanctis L; James S; Zerah M; Cormier-Daire V; Fauroux B
American Journal of Medical Genetics Part A
2017
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.a.38130" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.38130</a>
Sleep-disordered breathing in children with achondroplasia
Pediatrics; death; unexpected; apnea; cervicomedullary compression; decompression; infants; obstruction; respiratory complications; breathing difficulties; achondroplasia; trajectory; characteristics; obstructive sleep apnea; central apnea
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 pCO(2) 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.
Mogayzel P J; Carroll J L; Loughlin G M; Hurko O; Francomano C A; Marcus C L
Journal of Pediatrics
1998
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/s0022-3476(98)70358-0" target="_blank" rel="noreferrer noopener">10.1016/s0022-3476(98)70358-0</a>
Disordered breathing during sleep in patients with mucopolysaccharidoses
breathing difficulties; sleep disturbance; Galactosialidosis; MPSI; MPSII; MPSIII; MPSIIIA; MPSIIIB; MPSVI; MPSVII; trajectory; characteristics; obstructive sleep apnea; OSA; frequent awakenings; poor sleep quality
Objective: Obstructive sleep apnoea (OSA) has been reported as a feature of children with mucopolysaccharidoses (MPS). However, the incidence and severity of OSA with respect to disease type is poorly defined. The aim of the present study was to measure objectively the degree of OSA in a group of children with a range of MPS syndromes. Methods: In a cross-sectional study, cardiopulmonary sleep studies were performed during unsedated sleep in 26 children with MPS over a period of 2 years. Scores of OSA severity based upon clinical history and upon objective sleep study data were made in each case and compared. Results: OSA was present in 24/26 patients, and ranged in severity from mild to severe. OSA was most marked in MPS type IH (Hurler syndrome) followed by types IHS (Hurler–Scheie syndrome) and II (Hunter syndrome). Frequent arousals and poor sleep quality, not suspected clinically, were noted in several patients. There was agreement between the clinical and objective scoring systems in only 17/26 patients (65%) with clinical history scores tending to underestimate the most severe cases (5/26 cases) and overestimate the severity in the mild cases (4/26 cases). Conclusions: Obstructive respiratory problems are frequent in MPS patients and there are differences in severity of OSA between the different MPS types. Assessments of the severity of OSA based upon clinical history alone are inadequate. Our results suggest that objective sleep studies are necessary to evaluate these cases, to monitor clinical outcome and to assess the effects of therapeutic intervention. Prospective studies in larger numbers of patients are needed to validate these observations.
Leighton SEJ; Papsin B; Vellodi A; Dinwiddie R; Lane R
International Journal of Pediatric Otorhinolaryngology
2001
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/S0165-5876(01)00417-7" target="_blank" rel="noreferrer noopener">10.1016/S0165-5876(01)00417-7</a>
Increased prevalence of sleep-disordered breathing in Friedreich ataxia
reliability; Neurosciences & Neurology; disease; scale; adults; apnea syndrome; daytime sleepiness; breathing difficulties; Friedreich's ataxia; trajectory; characteristics; obstructive sleep apnea
Objectives: We sought to document the prevalence and nature of sleep-disordered breathing (SDB) in individuals with Friedreich ataxia (FRDA) as well as establish the relationship, if any, between SDB and clinical parameters of FRDA. Methods: Eighty-two individuals with FRDA were administered the Epworth Sleepiness Scale on an annual basis for up to 3 years. Individuals were referred for a sleep study if they had an Epworth Sleepiness Scale score >8 or had clinical symptoms suggestive of SDB. Results: From this cohort, 21 individuals underwent a sleep study and 17 were diagnosed with obstructive sleep apnea syndrome, giving a minimum prevalence of 21%, which is greater than that found in the general population (3%-7%). Moreover, the presence of obstructive sleep apnea was significantly correlated with the duration of disease and clinical severity of FRDA. Conclusion: It is recommended that individuals with FRDA undergo regular screening for obstructive sleep apnea to identify the need for a sleep study and subsequent treatment if SDB is diagnosed.
Corben L A; Ho M; Copland J; Tai G; Delatycki M B
Neurology
2013
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1212/WNL.0b013e318297ef18" target="_blank" rel="noreferrer noopener">10.1212/WNL.0b013e318297ef18</a>
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes
Cross-Sectional Studies; Age Factors; Male; Treatment Outcome; Comorbidity; Child; Humans; Adolescent; Cohort Studies; Female; Child Preschool; Infant; Polysomnography; Body Mass Index; Achondroplasia/di [Diagnosis]; Achondroplasia/th [Therapy]; Sleep Apnea Central/di [Diagnosis]; Sleep Apnea Central/th [Therapy]; Sleep Apnea Obstructive/di [Diagnosis]; Sleep Apnea Obstructive/th [Therapy]; Achondroplasia/ep [Epidemiology]; Airway Obstruction/di [Diagnosis]; Airway Obstruction/ep [Epidemiology]; Airway Obstruction/th [Therapy]; Sleep Apnea Central/ep [Epidemiology]; Sleep Apnea Obstructive/ep [Epidemiology]; breathing difficulties; achondroplasia; trajectory; characteristics; obstructive sleep apnea
PURPOSE: We report aspects of sleep-disordered breathing in a cohort of achondroplastic children who attended our hospital. METHODS: A retrospective chart review was conducted for a 15-year period to further evaluate the diagnosis and treatment of sleep-disordered breathing in children with achondroplasia. RESULTS: A review of the medical records was undertaken for 46 children (63%, mean age 3.9 years) with achondroplasia that had overnight polysomnography. Among them, 25 (54.3%) had obstructive sleep apnea (OSA). For 19 out of 46 patients (follow-up rate, 41.3%) with a mean follow-up of 31.3 months (range, 3 month to 11 years), 13 had undergone adenotonsillectomy, while nine were treated with continuous positive airway pressure. CONCLUSIONS: Prospective evaluation of our clinic population confirms a high incidence of SDB in achondroplastic children. OSA has been linked to raise intracranial pressure as well as neurocognitive deficits in children and we hypothesize that associations between neurological and respiratory abnormalities in this disorder are a consequence of the early onset of associated respiratory, rather than the neurological complications.
Afsharpaiman S; Sillence D O; Sheikhvatan M; Ault J E; Waters K
Sleep and Breathing
2011
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s11325-010-0432-6" target="_blank" rel="noreferrer noopener">10.1007/s11325-010-0432-6</a>