To assess sleep-disordered breathing (SDB), sleep architecture, and arousal pattern in infants with achondroplasia and to evaluate the relationship between foramen magnum size and the severity of SDB.
A retrospective review of polysomnographic recordings and medical records was performed in infants with achondroplasia and in aged-matched control subjects. All studies were re-scored with the emphasis on respiratory events, sleep state, and arousals. In addition, the neuroimaging study of the brain (magnetic resonance imaging) was reviewed to evaluate foramen magnum diameters and to assess their relationship to SDB.
Twenty-four infants met the criteria for entry into analysis, 12 infants with achondroplasia (A) and 12 control infants (C). There was no significant difference in age or sex. Infants with achondroplasia had a significant increase in total respiratory disturbance index (RDI; A, 13.9 +/- 10.8 versus C, 2.0 +/- 0.9; P < .05). However, there was no significant difference in percentages of active sleep, quiet sleep, or sleep efficiency. Analysis of arousals demonstrated that infants with achondroplasia had a significant decrease in both spontaneous arousal index (A, 10.5 +/- 3.5/hr versus C, 18.6 +/- 2.7; P < .0001) and respiratory arousals (A, 10.3% +/- 6.3% versus C, 27.5 +/- 9.5%; P < .0001). Evaluation of foramen magnum dimensions demonstrated smaller foramen magnum size, but there were no significant correlations between anteroposterior or transverse diameters and RDI.
Infants with achondroplasia have significant SDB during early infancy. SDB in infants with achondroplasia is not associated with alteration in sleep architecture, possibly because of attenuation of the arousal response. We speculate that the concomitant increased apneic events and decreased arousal response will lead to vulnerability in these infants and may underlie the pathophysiologic mechanism of sudden unexpected death in this population.
"Parents may underestimate the respiratory symptoms and poor sleep quality in their child. Moreover, it has been shown recently that infants with achondroplasia have a decreased arousal index, and in particular a respiratory-related arousal index, as compared to healthy counterparts, explaining why these infants have normal sleep efficiency despite a significantly higher RDI [Ednick et al., 2009]. But this lack of correlation between symptoms of sleep-disordered breathing and sleep results is also observed in FIG. 2. Improvement of the apnea–hypnea index (AHI) and desaturation index after upper airway surgery. "
[Show abstract][Hide abstract] ABSTRACT: Children with achondroplasia are at risk of sleep-disordered breathing. The aim of the study was to evaluate lung function and sleep-disordered breathing in children with achondroplasia. An interview, clinical examination, lung function tests with blood gases, and a polygraphic sleep study were obtained as part of routine annual evaluation in consecutive children with achondroplasia. We included 30 children (median age 3.0 years, range: 0.4-17.1) over a period of 21 months. Habitual snoring and witnessed apneas were observed in 77% and 33% of the patients, respectively. Prior to the sleep study, 10/29 (34%) patients had undergone upper airway surgery and 5/29 (17%) craniocervical decompression operation. Arterial blood gases were abnormal in two (7%) patients. Sleep findings were abnormal in 28/30 (93%) patients. Eleven (37%) patients had an apnea index≥1 event/hr and 26 (87%) had an apnea-hypopnea index≥5 events/hr. The ≥3% desaturation index was >5/hr in 22 (73%) patients. Sixteen (53%) patients had a minimal pulse oximetry<90% but only two (7%) patients had a maximal transcutaneous carbon dioxide pressure>50 mmHg during sleep. As a consequence, the following therapeutic interventions were performed: upper airway surgery in four patients and noninvasive positive pressure ventilation (NPPV) in five other patients, resulting in an improvement in sleep studies in all nine patients. Systematic sleep studies are recommended in children with achondroplasia because of the high prevalence of sleep-disordered breathing. Upper airway surgery and NPPV are effective treatments of sleep-disordered breathing.
American Journal of Medical Genetics Part A 08/2012; 158A(8):1987-93. DOI:10.1002/ajmg.a.35441 · 2.16 Impact Factor
"To date, a variety of research methods have been used in clinical and community-based samples. Laboratory polysomnography – the most reliable and comprehensive method for assessing infant sleep (Ednick et al., 2009) – is limited by the short period of assessment and the artificial sleep environment, which may be disruptive to sleep. Actigraphy is an alternative method for the assessment of infant sleep. "
[Show abstract][Hide abstract] ABSTRACT: Reliable, valid and cost-effective methods for the assessment of infant sleep and sleep problems are of major importance. In this study, the first aim was to assess the agreement of an electronic diary as well as a paper diary with actigraphy for measuring infant sleep patterns in a community sample. The second aim was to assess the feasibility and acceptance of, and compliance with, the electronic diary and the paper diary. Ninety parents reported infant sleep behavior in a paper diary in their home environments for a total of 6 days, 95 in an electronic diary, within two consecutive weeks while actigraphic data were obtained simultaneously. We found moderate to good agreement between electronic diaries and actigraphy (r = 0.41-0.65, P < 0.01), and paper diaries and actigraphy (r = 0.47-0.70, P < 0.01). In addition, this study also found good agreement between both diaries and also between both diaries and actigraphy for sleep percentage over 24 h (electronic diaries and actigraphy: 54.1 ± 0.7%, 52.5 ± 0.7%, P < 0.05; paper diaries and actigraphy: 55.1 ± 0.5%, 52.2 ± 0.6%, P < 0.01) and for daytime (electronic diaries and actigraphy: 27.3 ± 0.9%, 23.5 ± 1.2%, P < 0.01; paper diaries and actigraphy: 27.3 ± 0.8%, 23.2 ± 1.0%, P < 0.01), with the exception that less daytime sleep was recorded on actigraphy than on either diary. In conclusion, the electronic diary and the paper diary are valid and well-accepted methods for the assessment of infant sleep. Parents preferred the electronic diary but, conversely, they were less compliant in completing it.
Journal of Sleep Research 06/2011; 20(4):598-605. DOI:10.1111/j.1365-2869.2011.00926.x · 3.35 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: La ventilation non invasive (VNI) au long cours est une technique d’assistance respiratoire en plein essor chez l’enfant. Elle consiste en la délivrance d’une assistance respiratoire à travers une interface qui respecte les voies aériennes du patient, comme un masque nasal ou facial, plus rarement des canules nasales. La VNI est indiquée dans les hypoventilations alvéolaires, dont les causes sont variées. En effet, l’hypoventilation peut être liée à une maladie neuromusculaire, à une anomalie maxillofaciale ou des voies aériennes supérieures, à une déformation de la cage thoracique, à une maladie pulmonaire ou à une anomalie du contrôle de la respiration. Dans ces pathologies chroniques, la VNI est le traitement de choix de l’insuffisance respiratoire, car c’est une technique non invasive qui peut être utilisée à la demande, préférentiellement pendant le sommeil. L’essor de la VNI s’explique à la fois par un meilleur dépistage des troubles respiratoires du sommeil dans ces maladies et la mise sur le marché d’interfaces et de ventilateurs mieux adaptés à l’enfant.
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