Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study

Objectives: Pallister-Killian syndrome (PKS) is a rare genetic disorder with multi-organ involvement caused by mosaic tetrasomy of chromosome 12p. Although many caregivers report the presence of impaired sleep in their children, there are no clear data in the literature on this issue and no systematic study has ever been performed. With this study, we aimed to characterize the features of sleep in Pallister-Killian syndrome and identify the possible influence of clinical and demographic features. Moreover, our aim was to verify the effectiveness of conventional screening questionnaires in this particular group of patients.Methods: We prospectively enrolled 14 patients aged 1–17 years in collaboration with PKS Kids Italia ONLUS. The Sleep Disturbance Scale for Children (SDSC) questionnaire was administered to caregivers. Then, video polysomnography (VPSG) of at least 24 h was performed and results were compared with a same-aged control group.Results: A total of 92% of patients had abnormal SDSC scores, extremely high in the “disorder of initiating and maintaining sleep” (DIMS) and “sleep breathing disorders” (SBD) subscales. VPSG showed a significantly impaired macrostructure in PKS patients, with a higher Arousal Index (p < 0.00001) and percentage of time spent in N3 (p < 0.00001), and reduced Sleep Efficiency (p = 0.0006). After dividing both PKS and controls into two groups based on median age, some peculiarities emerged: the younger group had higher Awakenings Index (p = 0.0207) and percentage of time spent in N1 (p = 0.015) while the older group showed higher time in bed (TIB) (p = 0.0485), compared with controls. Due to poor compliance, the Apnea-Hypopnea Index (AHI) was evaluated only for 10 PKS children, being significantly increased (p = 0.0427) compared with controls. SBD subscale scores in SDSC were significantly related to AHI values in VPSG (p = 0.0099).Conclusions: This study constitutes the first attempt to describe the sleep pattern in PKS. Despite small numbers due to the rarity of the syndrome, our VPSG results confirm the high prevalence of sleep disorders (SDs) in these patients. It is therefore essential to investigate and treat them. The SDSC scale is a good screening tool for early detection also in these patients, with particular sensitivity in detecting breathing disorders.

Algorithm for the diagnosis of breathing disorders during sleep in children with neurological pathology

Introduction. Sleep disorders in children with nervous system pathology are more pronounced than in the general population. One of the most common causes of sleep disorders in children is sleep-disordered breathing. The aim of our study was to create an algorithm for the diagnosis of sleep breathing disorders in children with neurological pathology. Materials and methods. The results of night studies (160 polysomnographies, 98 cardiorespiratory monitorings) carried out in the department of instrumental diagnostics at the National Medical Research Center for Children’s Health in 258 children (154 boys and 104 girls, aged one month to 17 years) with neurological pathology were analyzed. Questionnaires were used to assess the quality of sleep. An essential criterion for dividing children into groups was the presence of maxillofacial anomalies (MFA). The results were compared with complaints according to questionnaires, age, BMI and ENT-status of patients. Results. In the general sample, a significant (p < 0.001) relationship between respiratory disorders and complaints and the presence of ENT pathology was obtained. The most severe breathing disorders were recorded in children with MFA (p < 0.001). The result was the creation of an algorithm for examining children with neurological pathology. Conclusion. Children with neurological pathology in sleep-breathing disorders require a personalized approach to correcting the causes of these disturbances, depending on the nosology. Chronic pathology of the ENT organs aggravates respiratory disorders during sleep. Regular monitoring of sleep disorders using questionnaires should be included in the algorithm for managing children with neurological diseases of all ages for early detection of these disorders.

Morbidity and mortality reduction associated with polysomnography testing in idiopathic pulmonary fibrosis: a population-based cohort study

Background It is not well-known if diagnosing and treating sleep breathing disorders among individuals with idiopathic pulmonary fibrosis (IPF) improves health outcomes. We evaluated the association between receipt of laboratory-based polysomnography (which is the first step in the diagnosis and treatment of sleep breathing disorders in Ontario, Canada) and respiratory-related hospitalization and all-cause mortality among individuals with IPF. Methods We used a retrospective, population-based, cohort study design, analyzing health administrative data from Ontario, Canada, from 2007 to 2019. Individuals with IPF were identified using an algorithm based on health administrative codes previously developed by IPF experts. Propensity score matching was used to account for potential differences in 41 relevant covariates between individuals that underwent polysomnography (exposed) and individuals that did not undergo polysomnography (controls), in order minimize potential confounding. Respiratory-related hospitalization and all-cause mortality were evaluated up to 12 months after the index date. Results Out of 5044 individuals with IPF identified, 201 (4.0%) received polysomnography, and 189 (94.0%) were matched to an equal number of controls. Compared to controls, exposed individuals had significantly reduced rates of respiratory-related hospitalization (hazard ratio [HR] 0.43, 95% confidence interval [CI] 0.24–0.75), p = 0.003) and all-cause mortality (HR 0.49, 95% CI 0.30–0.80), p = 0.004). Significantly reduced rate of respiratory-related hospitalization (but not all-cause mortality) was also observed among those with > = 1 respiratory-related hospitalization (HR 0.38, 95% CI 0.15–0.99) and systemic corticosteroid receipt (HR 0.37, 95% CI 0.19–0.94) in the year prior to the index date, which reflect sicker subgroups of persons. Conclusions Undergoing polysomnography was associated with significantly improved clinically-important health outcomes among individuals with IPF, highlighting the potential importance of incorporating this testing in IPF disease management.

553 Assessment of sleep disorders in children and adolescents with obesity

Introduction When studying the inherent aspects of sleep it is important to assess how the quality and quantity of sleep in the last two decades may be one of the reasons for the increase in childhood obesity, which has been growing rapidly worldwide. This study aims to assess the presence of sleep disorders in overweight children and adolescents. Methods An descriptive study was conducted with data collection from 43 patients between 6 and 13 years old diagnosed as overweight. They were patients of a specialized service for children and adolescents with obesity that is part of the Hospital de Clínicas of the Federal University of Paraná, located in Curitiba, Brazil. To investigate the presence of sleep disorders, the Sleep Disturbance Scale for Children (SDSC) questionnaire was administered. The factors assessed were: Disorders of Initiating and Maintaining Sleep, Sleep Breathing Disorders, Disorders of Arousallnightmures, Sleep Wake Transition Disorders, Disorders of Excessive Somnolence and Sleep Hyperhydrosis. Results The mean age of the patients that took part in the research was 10 years and 7 months (± 1.95). The mean BMI of the participants was 29.57 kg/m2 (± 4.38), the majority being diagnosed with obesity. The sum of all SDSC factors demonstrated the presence of pathological sleep in 58.1% (25) of the sample, whereas 51.2% (22) of the patients had Sleep Breathing Disorders and 58.1% (25) had the Sleep Wake Transition Disorder. Conclusion The present study demonstrated the presence of sleep disorders in overweight children and adolescents. As for Sleep Respiratory Disorder, a situation has already been advocated in the current literature for this audience. In relation to the Sleep-Wake Transition Disorder and pathological sleep, further research is needed to prove the presence of the disorder in other groups studied. Here is the suggestion that future research be done with subjective and objective data collection on sleep within a larger sample, in order to confirm the association between sleep disorders and childhood obesity. Support (if any):

Morbidity and Mortality Reduction Associated with Polysomnography Testing in Idiopathic Pulmonary Fibrosis: A Population-Based Cohort Study

Background: It is not well-known if diagnosing and treating sleep breathing disorders among individuals with idiopathic pulmonary fibrosis (IPF) improves health outcomes. We evaluated the association between receipt of laboratory-based polysomnography (which is the first step in the diagnosis and treatment of sleep breathing disorders in Ontario, Canada) and respiratory-related hospitalization and all-cause mortality among individuals with IPF.Methods: We used a retrospective, population-based, cohort study design, analyzing health administrative data from Ontario, Canada, from 2007-2019. Individuals with IPF were identified using an algorithm based on health administrative codes previously developed by IPF experts. Propensity score matching was used to account for potential differences in 41 relevant covariates between individuals that underwent polysomnography (exposed) and individuals that did not undergo polysomnography (controls), in order minimize potential confounding. Respiratory-related hospitalization and all-cause mortality were evaluated up to 12 months after the index date. Results: Out of 5044 individuals with IPF identified, 201 (4.0%) received polysomnography, and 189 (94.0%) were matched to an equal number of controls. Compared to controls, exposed individuals had significantly reduced rates of respiratory-related hospitalization (hazard ratio [HR] 0.43, 95% confidence interval [CI] 0.24-0.75), p=0.003) and all-cause mortality (HR 0.49, 95% CI 0.30-0.80), p=0.004). Significantly reduced rate of respiratory-related hospitalization (but not all-cause mortality) was also observed among those with >=1 respiratory-related hospitalization (HR 0.38, 95% CI 0.15-0.99) and systemic corticosteroid receipt (HR 0.37, 95% CI 0.19-0.94) in the year prior to the index date, which reflect sicker subgroups of persons. Conclusions: Undergoing polysomnography was associated with significantly improved clinically-important health outcomes among individuals with IPF, highlighting the potential importance of incorporating this testing in IPF disease management.