Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings
Age Factors; Male; Surveys and Questionnaires; Child; Humans; Cohort Studies; Female; Child Preschool; Infant; Incidence; Sleep Apnea Syndromes/di [Diagnosis]; Sleep Apnea Syndromes/et [Etiology]; Achondroplasia/co [Complications]; Polysomnography/mt [Methods]; Receptor Fibroblast Growth Factor Type 3/ge [Genetics]; Sleep Apnea Syndromes/ep [Epidemiology]; Achondroplasia/ge [Genetics]; EC 2-7-10-1 (FGFR3 protein human); EC 2-7-10-1 (Receptor Fibroblast Growth Factor Type 3); feeding difficulties; Achondroplasia; trajectory; characteristics; respiratory sleep disorder
BACKGROUND: The aim of the present study was to show the results of an overnight polysomnography in a cohort of 9 children (7 females and 2 males) with achondroplasia, aged between 1 and 12 years (5.56+/-4.7 years). All of the children carried the Gly380Arg (G380R) mutation on the FGFR3 gene. METHODS: All the young patients underwent nocturnal polysomnography without sleep deprivation. Sleep staging was noted according to the guidelines of the American Academy of Sleep Medicine. At the time of registration, the parents answered to a Sleep Control Test questionnaire regarding medical history and diurnal and nocturnal symptoms of their children. RESULTS: Respiratory sleep disorder was present in 78% of cases, and was generally mild. In 67% of the children there was respiratory effort for more than 30% of the total sleep time. The sample was divided into two age categories: 5 children under the age of 3 years and 4 children over 10 years old. A higher incidence of sleep disorder was found in the first few years of life, where the obstructive pattern predominates. Regarding sleep architecture, we did not find macroscopic alterations of sleep architecture and its phasic manifestations in our paediatric group. However, parents have not been referred daytime sleepiness, attention deficiency, hyperactivity and nocturnal enuresis. Only one had referred recurrent respiratory infections. CONCLUSIONS: Polysomnography is a very useful tool in the evaluation of sleep-disordered breathing in children with achondroplasia.
Zaffanello M; Lo Tartaro P; Piacentini G; Cantalupo G; Gasperi E; Antoniazzi F
Minerva Pediatrica
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/10.23736/S0026-4946.16.04282-1" target="_blank" rel="noreferrer noopener">10.23736/S0026-4946.16.04282-1</a>
Breathing abnormalities in sleep in achondroplasia
breathing difficulties; achondroplasia; trajectory; characteristics; upper airways obstruction
Overnight sleep studies were performed in 20 subjects with achondroplasia to document further the respiratory abnormalities present in this group. Somatosensory evoked potentials (SEPs) were recorded in 19 of the subjects to screen for the presence of brainstem abnormalities, which are one of the potential aetiological mechanisms. Fifteen children aged 1 to 14 years, and five young adults, aged 20 to 31 years were included. All had upper airway obstruction and 15 (75%) had a pathological apnoea index (greater than five per hour). Other sleep associated respiratory abnormalities, including partial obstruction, central apnoea, and abnormal electromyographic activity of accessory muscles of respiration, also showed a high prevalence. SEPs were abnormal in eight (42%), but there was no correlation between abnormal SEPs and apnoea during sleep, either qualitatively or quantitatively. A high prevalence of both sleep related respiratory abnormalities and abnormal SEPs in young subjects with achondroplasia was demonstrated. However, the sleep related respiratory abnormalities do not always result in significant blood gas disturbances or correlate with abnormal SEPs in this group.
Waters K A; Everett F; Sillence D; Fagan E; Sullivan C E
Archives in Disease in Childhood
1993
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/10.1136/adc.69.2.191" target="_blank" rel="noreferrer noopener">10.1136/adc.69.2.191</a>
Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials
Achondroplasia/co [Complications]; Adolescent; Adult Child; Child; Preschool; Evoked Potentials; Female; Humans; Infant; Male; Middle Aged; Respiration; Sleep Apnea Syndromes/et [Etiology]; Sleep Apnea Syndromes/th [Therapy]; Tonsillectomy; Weight Loss; breathing difficulties; achondroplasia; surgical interventions; physical interventions; adenotonsillectomy; losing weight; weight loss; CPAP; respiratory disturbance index
The occurrence of obstructive sleep apnea (OSA) is achondroplasia has been linked to brain stem compression. Overnight sleep studies (11 subjects) and somatosensory-evoked potentials (SEP's, 10 subjects) were recorded before and after conventional treatment of OSA in achondroplasia. The two groups were derived from 30 subjects who underwent diagnostic sleep studies and SEPs, including 15 females and 15 males with a median age 6.6 years (range 1.0-47.6) at the time of the first study. In 30 initial studies there was no correlation between severity of OSA and abnormalities on SEP evaluation. Treatment of 17 subjects included adenotonsillectomy (n = 3), weight loss (n = 1), and nasal-mask continuous positive airway pressure (CPAP) (n = 13). Sleep studies in 11 subjects after a delay of 8.8 +/- 2.8 months showed a reduction in respiratory disturbance index (RDI) from 38.4 +/- 6.9 to 6.5 +/- 1.8 events hr(-1) (p < 0.001) and movements/arousals fell from 10.4 +/- 2.2 to 4.8 +/- 0.2 hr(-1) (p < 0.04). Obstructive events were reduced from 33.7 +/- 6.9 to 2.4 +/- 1.0 hr(-1) (p < 0.001). Improvement of respiratory indices was associated with an increased proportion of slow-wave sleep from 25.2 +/- 4.0% to 32.3 +/- 2.4% (p = 0.01), and decrease in stage 1-2 sleep from 59.3 +/- 5.8% to 46.6 +/- 1.9% (p = 0.03). There was no increase in the percentage of REM sleep (15.2 to 21.2%). Repeat SEP studies in 10 subjects, after clinically effective treatment of OSA, showed improvement of SEP score of at least 1 grade, in 5 of 7 (71%) with initially abnormal values. We conclude that treatment of relieve upper airway obstruction improves OSA in achondroplasia, accompanied by changes in sleep structure and, in some cases, improved studies of neurological function.
Waters K A; Everett F; Sillence D O; Fagan E R; Sullivan C E
American Journal of Medical Genetics
1995
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<a href="http://doi.org/10.1002/ajmg.1320590412" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320590412</a>
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
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<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
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<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>
Cognitive and motor skills in achondroplastic infants: neurologic and respiratory correlates
Brain/pathology; Male; Electroencephalography; Humans; Prospective Studies; Female; Child Preschool; Infant; Neuropsychological Tests; Psychomotor Performance; Intelligence; Atrophy; Achondroplasia/complications/physiopathology/psychology; Evoked Potentials Somatosensory; Intellectual Disability/etiology; Respiration Disorders/etiology/physiopathology; Sleep Apnea Syndromes/etiology/physiopathology; sleep disturbance; tone and motor problems; achondroplasia; trajectory; characteristics; respiratory dysfunction
Thirteen infants with achondroplasia underwent psychometric testing as part of a comprehensive neurologic assessment. As a group, mental development was average and motor development was delayed, although a wide range of scores was obtained. Foramen magnum measurements were correlated with respiratory dysfunction, abnormal somatosensory evoked potentials, and delayed motor development. Abnormal polysomnogram outcome was associated with reduced mental capacity. In light of the reported increased frequency of respiratory dysfunction in achondroplasia, these findings warrant careful attention and further study.
Hecht J T; Thompson N M; Weir T; Patchell L; Horton W A
American Journal of Medical Genetics
1991
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<a href="http://doi.org/10.1002/ajmg.1320410215" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320410215</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
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<a href="http://doi.org/10.1007/s11325-010-0432-6" target="_blank" rel="noreferrer noopener">10.1007/s11325-010-0432-6</a>