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>
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
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.1320590412" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320590412</a>