Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records.

OBJECTIVE: Craniofacial disharmony in skeletal diseases is strongly associated with sleep-disordered breathing. This study was aimed at studying the sleep respiratory patterns in young children with rare skeletal disorders. DESIGN: This retrospective study included children with achondroplasia (ACH), osteogenesis imperfecta (OI) and Ellis van Creveld Syndrome. Our subjects underwent an in-laboratory overnight respiratory polygraph between January 2012 and April 2016. All medical records were reviewed and brain Magnetic Resonance Imaging was conducted on patients with ACH, nasopharynx, oropharynx and laryngopharynx spaces. PATIENTS: Twenty-four children were enrolled, 13 with ACH, 2 with spondyloepiphyseal dysplasia, 1 with odontochondrodysplasia, 6 with OI and 2 with Ellis van Creveld Syndrome. RESULTS: Children with ACH, who had adenotonsillectomy, showed fewer sleep respiratory involvement than untreated children. Among 13 patients with ACH, brain magnetic resonance imaging was available in 10 subjects and significant negative correlation was found between sleep respiratory patterns, nasopharynx and oropharynx space (p < 0.05). In 2 patients with spondyloepiphyseal dysplasia, mild-to-moderate sleep respiratory involvement was found. Both subjects had a history of adenotonsillectomy. Mild sleep respiratory involvement was also observed in 4 out of 6 patients with OI. One patient with Ellis van Creveld syndrome had mild sleep respiratory disturbance. CONCLUSIONS: Sleep respiratory disturbances were detected in children with ACH, and with less severity also in OI and Ellis van Creveld syndrome. Adenotonsillectomy was successful in ACH in reducing symptoms. In light of our findings, multicenter studies are needed to obtain further information on these rare skeletal diseases.

Evaluation of the central sleep apnea in asymptomatic children with Chiari 1 malformation: an open question.

INTRODUCTION: Type I is the most common Chiari malformation in children. In this condition, the lower part of the cerebellum, but not the brain stem, extends into the foramen magnum at the base of the skull leading to intermittent brain hypertension. In symptomatic children, central sleep apneas are shown in polysomnography evaluation. A central apnea index of 1/h or more is considered abnormal, but >5/h is clearly considered pathological. Therefore, central sleep apnea evaluation in pediatric age may show great age-related variability. METHOD AND SUBJECTS: We present three patients who were assessed by polysomnography with two different scores for central sleep apneas published in the literature: the method by Scholle (2011) and the American Academy of Sleep Medicine scoring system (2012). CONCLUSIONS: We speculated that the Scholle scoring system can be more helpful in assessing children with asymptomatic Chiari 1 malformation for a closer follow-up. More studies are needed.

Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings.

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.

Obstructive sleep-disordered breathing, enuresis and combined disorders in children: chance or related association?

Nocturnal enuresis is usually diagnosed and treated by a primary paediatrician or family practitioner; if there is any doubt, the children may be referred to a paediatric urologist. Obstructive sleep-disordered breathing is a complex, multifactorial disorder. Adenotonsillar hypertrophy is considered an important factor associated with obstructive sleep apnoea syndrome. Enuresis and obstructive sleep-disordered breathing are both frequent problems of sleep in childhood. We conducted an electronic search in Medline, Scopus and the ISI Web of Science to look for published material and identify a putative link between nocturnal enuresis and obstructive sleep-disordered breathing. A total number of 98 documents were found, but 24 of these had to be excluded after an attentive reading of the title, abstract or full text because the information therein was not suitable for the aims of our search. Studies have found that children with obstructive sleep apnoea syndrome frequently also have nocturnal enuresis. Both disorders have an underlying sleep disturbance characterised by an altered arousal response and sleep fragmentation. The pathophysiology of enuretic events is seemingly linked to nocturnal obstructive events, causing increased intra-abdominal pressure and altered systemic blood pressure that induces natriuresis and polyuria by altering levels of antidiuretic hormone, and atrial and brain natriuretic peptides. We found 17 studies regarding the urological outcome of treatment for obstructive sleep-disordered breathing in children with enuresis. Although a vast amount of information is now available regarding the relationship between nocturnal enuresis and obstructive sleep-disordered breathing, many of the published studies were uncontrolled, retrospective or prospective cohort studies (grade C recommendation). Resolution of enuresis after medical or surgical treatment for obstructive sleep-disordered breathing has been emphasised. Consequently, symptoms such as snoring, sleep apnoeas and restless sleep should be sought for all children with enuresis. Confirmed obstructive sleep-disordered breathing should be treated promptly; subsequently, the persistence of enuresis requires treatment following the standard protocol.

Indoor/outdoor not-voluptuary-habit pollution and sleep-disordered breathing in children: a systematic review.

BACKGROUND: Exposure to environmental pollutants is advocated to be a major risk factor, with increased morbidity and mortality in humans due to acute and chronic airway inflammation. The aim of the present review is to show the literature research regarding the link between the sleep-disordered breathing and exposure to indoor/outdoor pollution in children. We hypothesized that environmental air pollution can play a role in childhood sleep-disordered breathing. METHODS: We conducted an electronic search in Medline (with PubMed interface), Scopus and the ISI Web of Science using the keywords "sleep" or "sleep apnea" or "sleep disordered breathing" and "pollution" and "children" in "Title/Abstract/Keywords", with language restriction (non-English paper) and no date limitation to present. The tobacco smoke pollution is well established linking and is not considered for the present subject. We examined the strength of the evidence according to the Oxford Centre for Evidence-Based Medicine [2011] and the Centre for Evidence-Based Medicine [2009]. RESULTS: A total of 105 articles were identified, but 97 of these had to be excluded after an accurate reading of the title, abstract or full text. In the end, eight studies were selected for our analysis for a total of a total of 5,826 children. The results suggest an involvement (grade C) of environmental (not from voluptuary habits) pollution in the worsening of sleep-disordered breathing in children. CONCLUSIONS: To date, some studies reported significant differences between areas with higher and lower pollutants and the interventions on indoor pollution reduced sleep-disordered breathing in children. Therefore, although the relevance of the argument is high, the number of studies and the interest in the subject seems at this time quite limited.

Sleep-Disordered Breathing in Children with Recurrent Wheeze/Asthma: A Single Centre Study.

The relationship between asthma and sleep-disordered breathing is bidirectional due to common risk factors that promote airway inflammation. Obstructive sleep-disordered breathing and recurrent wheeze/asthma are conditions that involve the upper and the lower respiratory system, respectively. The aim of the present study was to investigate the sleep disordered breathing in children with recurrent wheeze/asthma. This was a retrospective study concerning children older than 2 years who underwent-between January 2014 and November 2016-an in-laboratory overnight polygraphic study. We match the children between those who do or do not have recurrent wheeze/asthma disease. We examined the clinical records of 137 children. We excluded eight patients because of neurological and genetic conditions. Children with recurrent wheeze/asthma (N = 28) were younger (p = 0.002) and leaner (p = 0.013) compared to non-affected children (N = 98). Children with wheeze/asthma and unaffected ones had a similar obstructive apnea-hypopnea index (p = 0.733) and oxygen desaturation index (p = 0.535). The logistic regression analysis, in which the condition of wheeze/asthma (yes/no) was a dependent variable, while demographic (age, sex, body mass index (BMI) Z-score) and polygraphic results during sleep (obstructive apnea-hypopnea index, central apnea index, peripheral oxygen saturation (SpO2), and snoring) were covariates, showed that children with wheeze/asthma had higher central apnea index (Exp(B) = 2.212; Wald 6.845; p = 0.009). In conclusion, children with recurrent wheeze/asthma showed an increased number of central sleep apneas than unaffected children. This finding may suggest a dysfunction of the breathing control in the central nervous system during sleep. Systemic or central inflammation could be the cause.

Chiari 1 Malformation in a Child with Febrile Seizures, Parasomnias, and Sleep Apnea Syndrome.

INTRODUCTION: The type I is the most common Chiari malformation in children. In this condition, the lower part of the cerebellum, but not the brain stem, extends into the foramen magnum at the base of the skull leading to disturbances in cerebrospinal fluid circulation and to direct compression of nervous tissue. CASE REPORT: We describe a 4-year-old Caucasian female child with febrile seizures, headache, parasomnias, and a delay of speech. The child underwent a magnetic resonance imaging to investigate these neurological signs, disclosing a Chiari malformation type 1. The polysomnography showed a mild-moderate sleep-disordered breathing, increased number of central sleep apneas, and generalized spike waves at sleep onset. CONCLUSIONS: Seizures have been seldom described in CM1 patients. The main reasons for performing MRI in this case were frequent seizures, a delay of speech, and headache, leading to an unexpected diagnosis of CM1. Polysomnography detected a discrete SDB.

Ambulatory clinical parameters and sleep respiratory events in a group of obese children unselected for respiratory problems.

BACKGROUND: Obstructive sleep apnea in children is frequently due to tonsil and adenoid hypertrophy. This study aimed to investigate the relationship between ambulatory clinical parameters and sleep respiratory events in obese children. METHODS: We carried out a prospective respiratory sleep study between 2013 and 2015. Nails obstruction, tonsils enlargement and palate position were subjectively measured. Italian attention deficit hyperactivity disorder (ADHD) rating scale for parents was also performed. The polygraph study was performed using a portable ambulatory device. RESULTS: Forty-four obese children were consecutively recruited into this study. Mild sleep respiratory disturbance was showed in 31.8 % of patients; 18.2% previously had an adeno (tonsillectomy). In 50% of these obese children, both apnea-hypopnea index and oxygen desaturation index showed polygraph abnormal results. ADHD rating scale for parents scores were positive in 9.1% of patients. CONCLUSIONS: We found a high rate of mild sleep respiratory disturbance and ADHD-like symptoms referred by parents. The respiratory disturbance was not totally cured by surgery. Finally, otorhinolaryngology variables were not able to explain mild sleep respiratory disturbance.

Sleep-disordered breathing is associated with blood pressure and carotid arterial stiffness in obese children.

INTRODUCTION: Both sleep-disordered breathing (SDB) and high blood pressure (BP) occur more frequently among obese children than among normal weight children, and this may be due to endothelial dysfunction and worsened arterial stiffness. The aim of this study was to evaluate the possible association between SDB and BP, and the possible role of endothelial function and local and systemic arterial stiffness in a sample of obese children asymptomatic for sleep disturbances. MATERIALS AND METHODS: Thirty-nine obese children were included in the study. Children underwent overnight limited channel polysomnography, and the vascular measurements included the following: office and 24-h ambulatory BP; brachial flow-mediated dilatation, carotid intima-media thickness and carotid distensibility measured using ultrasound; and systemic arterial stiffness index measured using digital volume pulse analysis. RESULTS: Significant correlations between different BP measurements (both office and ambulatory BP monitoring and estimated by Z score) and SDB were found, including correlations involving the respiratory disturbance index, the apnea-hypopnea index (AHI), the number of desaturations per hour and the mean peripheral saturation (r ranging between 0.330 and 0.474). Carotid distensibility was correlated with the AHI (r = -0.367; P = 0.030) and with the mean oxygen saturation (r = 0.401; P = 0.017). In contrast, there was no relationship among flow-mediated dilatation, stiffness index, carotid intima-media thickness and all the tested respiratory markers. In the multivariate analysis, the supine Z SBP remained independently associated with the number of desaturations per hour and the AHI, even after correction for carotid distensibility and BMI. CONCLUSION: Our data suggest that in obese children asymptomatic for sleep respiratory problems, SDB might worsen BP, in part, through an increase in arterial stiffness.

Sleep disordered breathing in children with achondroplasia.

BACKGROUND: Children with achondroplasia often have breathing problems, especially during sleep. The most important treatments are adenotonsillectomy (for treating upper obstruction) and/or neurosurgery (for resolving cervicomedullar junction stenosis). DATA SOURCES: We reviewed the scientific literature on polysomnographic investigations which assessed the severity of respiratory disorders during sleep. RESULTS: Recent findings have highlighted the importance of clinical investigations in patients with achondroplasia, differentiating between those that look for neurological patterns and those that look for respiratory problems during sleep. In particular, magnetic resonance imaging (MRI) and somatosensory evoked potentials are the main tools to evaluate necessary neurosurgery and over myelopathy, respectively. CONCLUSIONS: The use of polysomnography enables clinicians to identify children with upper airway obstruction and to quantify disease severity; it is not suitable for MRI and/or neurosurgery considerations.