Signal quality of home polygraphy in children and adolescents.

AIM: The aims of the study were to examine the signal quality (SQ) of home polygraphy (PG) in children and adolescents and to compare automatic and manual scoring of the PGs. METHODS: Clinical Trials Registration: NCT04964830. Participants and caregivers were instructed to set up the equipment and perform home PGs themselves. The PGs were analysed according to SQ and their interpretability and differences in automatic vs. manual scoring regarding apnoea-hypopnoea index (AHI), apnoea index (AI), hypopnoea index (HI) and oxygen desaturation index (ODI) were examined. RESULTS: 54 healthy children aged 9-14 years participated in the study. 86% of the PGs were interpretable with mean SQ of 79.1% (CI 95%: 73.5%; 84.8%). Significant differences between the automatic and manual scoring were found for AHI, AI, HI and ODI (p < 0.0001). CONCLUSION: Home PGs of children and adolescents are feasible to be performed with good SQ. Significantly higher markers of sleep-disordered breathing were achieved in the automatic scoring in comparison with the manual scoring.

Specific dento-craniofacial characteristics in non-syndromic children can predispose to sleep-disordered breathing.

AIM: To ascertain and illustrate specific clinical dento-craniofacial characteristics associated with sleep-disordered breathing (SDB) in non-syndromic children. METHODS: Narrative review of literature on SDB, dental occlusion and craniofacial morphology retrieved through online literature database search for these terms. The review focused on clinical examples and graphical illustrations in order to ascertain the association between dento-craniofacial characteristics and SDB. Only publications concerning healthy non-syndromic children without any somatic or psychological diagnosis were included. RESULTS: Dento-craniofacial characteristics such as anterior open bite, large overjet, cross bite and facial appearance such as convex profile due to mandibular retrognathia and inclination, narrow and high palate can predispose to SDB in non-syndromic children. Furthermore, extended head posture, mouth breathing and general adenoidal face may be symptoms or predisposing factors to SDB in non-syndromic children. CONCLUSION: Dento-craniofacial characteristics as anterior open bite, large overjet due to mandibular retrognathia, cross bite, and narrow and high palate can predispose to SDB in non-syndromic children. Facial characteristics predisposing to SDB can be a convex facial profile, extended head posture, mouth breathing and general adenoidal face. Interdisciplinary collaboration between medical doctors and dentists can prove valuable in diagnostics, prevention and treatment of SDB in non-syndromic children.

Sleep-disordered breathing and malocclusion in children and adolescents-a systematic review.

BACKGROUND: Sleep-disordered breathing (SDB) has negative influence on children's development and well-being. Malocclusion due to some craniofacial anatomical characteristics may be associated with SDB. OBJECTIVES: The aim of this paper is to ascertain whether SDB is associated with malocclusion in children/adolescents, aged 6-15 years compared to healthy controls. METHODS: Prospero ID: CRD42021232103. A systematic electronic literature search following PRISMA was performed in PubMed, Embase and Cochrane Library. Inclusion criteria were as follows: Healthy children/adolescents aged 6-15 years with malocclusion undergoing polysomnography (PSG) or polygraphy (PG) and/or sleep questionnaire and orthodontic screening; compared to a healthy age-matched control group with neutral or minor deviation in the occlusion without requirement for orthodontic treatment; publications in English, Danish, Norwegian or Swedish published until 23 March 2021. JBI Critical Appraisal Tools and GRADE were used to evaluate the risk of bias and level of evidence. RESULTS: The search resulted in 1996 records, 610 duplicates were removed, 1386 records were screened, and 1322 records were excluded. Sixty-four studies were selected for full-text reading, and four publications fulfilled the inclusion criteria. The included studies had moderate risk of bias, and the quality of evidence was low. CONCLUSION: No firm conclusion can be drawn regarding an association between specific malocclusion traits and SDB. Thus, the studies found no association between molar relationship and crowding and SDB symptoms in children. It may be recommended that future studies include objective PSG or PG in diagnosis of SDB and compare groups of children with skeletal malocclusion and controls with neutral malocclusion.

Aniridia with PAX6 mutations and narcolepsy.

PAX6 gene mutations cause a variety of eye and central nervous system (CNS) abnormalities. Aniridia is often accompanied by CNS abnormalities such as pineal gland atrophy or hypoplasia, leading to disturbed circadian rhythm and sleep disorders. Less is known on the coincidence of narcolepsy in this patient group. We aimed to find out whether the circadian rhythm or sleep-wake structure was affected in patients with aniridia. Four members of a family segregating with congenital aniridia in two generations were included in the study. The patients were subjected to genetic testing for a PAX6 mutation, multiple sleep latency test, whole-brain magnetic resonance imaging (MRI), hypocretin-1 in cerebrospinal fluid, and Human Leukocyte Antigen DQ beta1*06:02. All four members were heterozygous for the pathogenic c.959-1G>A mutation in the PAX6 gene. Sleep disturbance was observed in all family members. The index patient was diagnosed with narcolepsy. MRI showed a hypoplastic pineal gland in all members. We describe the first case of a patient with PAX6 haploinsufficiency, aniridia and pineal gland hypoplasia diagnosed with narcolepsy type-1, suggesting a complex sleep disorder pathogenesis.

Children with home mechanical ventilation-Parents' health-related quality of life, family functioning and sleep.

AIM: Children requiring home mechanical ventilation (HMV) have grown in number and complexity. Parents of children with HMV are often responsible for the advanced homecare. This study explored the health-related quality of life (HRQoL), family functioning and sleep in parents of children with HMV. A secondary aim was to explore the impact on HRQoL, family functioning and sleep of selected potential determinants. METHODS: Questionnaires were completed by 45 mothers and 40 fathers, to 55 children receiving HMV. Parents were identified via respiratory clinics in the Swedish national quality register for oxygen and home respiratory treatment and invited to participate between December 2016 and December 2018. RESULTS: There were no differences between mothers and fathers overall HRQoL or family functioning reports, although differences within the physical (P < .043) and cognitive (P < .009) functioning dimensions were found. One of four parents reported moderate or severe insomnia. The variability in HRQoL and family functioning was predicted by HMV mode and sleep quality to an extent of 45% and 21%, respectively. CONCLUSION: Sleep quality and the child's HMV mode predicted parental HRQoL and family functioning. The results underscore the importance of evaluating parents' sleep and of being aware that invasive ventilation influences parental HRQoL and family functioning.

Siblings' Lived Experiences of Having a Brother or Sister With Home Mechanical Ventilation: A Phenomenological Hermeneutical Study.

Over the past few decades, there has been an increase in the number of children receiving home mechanical ventilation (HMV), and in many ways, families have taken responsibility for the required advanced homecare, which has placed considerable time demands on the family unit. Little is known about the life situation of the siblings of HMV-assisted children; their own voices and an insider perspective are missing. The aim of this study was to illuminate the everyday life experiences of siblings of HMV-assisted children. Data were obtained via interviews with 10 siblings with a median age of 9 years. Data were analyzed using a phenomenological hermeneutical method inspired by the French philosopher Ricoeur. Four themes emerged, all of which suggest that a complex and profound intertwined sibling bond develops that links the past, present, and future. The findings of this study provide valuable information from an insider's perspective about the meaning of having an HMV-assisted sibling. Family-focused care with particular attention and support for siblings of HMV-assisted children can encourage the development of internal strengths, self-confidence, and resilience.

Light Therapy With Scheduled Rise Times in Young Adults With Delayed Sleep Phase Disorder: Therapeutic Outcomes and Possible Predictors.

Clinical trials with light therapy (LT) for delayed sleep phase disorder (DSPD) are sparse and little is known about factors that are favorable for improvements. In this study, LT with scheduled rise times was conducted at home for 14 days by 44 participants with DSPD aged 16-26 years. Primary outcomes were sleep onset and sleep offset. Potential predictors were demographic characteristics, chronotype, dim light melatonin onset, the number of days the LT lamp was used, the daily duration of LT, daytime sleepiness, anxiety, depression, worry, and rumination. Significant advances were observed in sleep onset and sleep offset from baseline to the end of treatment. The number of days of LT predicted earlier sleep onset and sleep offset.

Nocturnal enuresis impaired children's quality of life and friendships.

AIM: There have not been any continence-specific measurement tools in Swedish that have allowed clinicians to investigate the quality of life (QoL) in children with bladder dysfunction. This study evaluated the QoL in Swedish children with nocturnal enuresis and tested the reliability of a Swedish translation of the Paediatric Incontinence Questionnaire (PinQ). METHODS: This prospective study comprised 46 children aged six to 18 years with nocturnal enuresis, who completed the PinQ after it was translated into Swedish. It was completed twice by 33 patients, and these responses were included in the test-retest evaluation. RESULTS: The self-reported mean sum score for the whole group was 26.3 ± 13.37 (range: 5-58), and the most affected domains were social relations with peers and self-esteem. The highest individual scores were four, three or two for 71.7%, 17.4% and 10.9% of the study population, respectively. Cronbach's alpha was 0.87 for the whole questionnaire, indicating good internal consistency. The test-retest stability was excellent, with an intra-class correlation coefficient of 0.76. CONCLUSION: Children with nocturnal enuresis had impaired self-esteem, and their impaired QoL affected their relationships with friends. The Swedish version of the PinQ proved to be a reliable tool that will be used in further studies.

Cognitive Behavioral Therapy as an Adjunct Treatment to Light Therapy for Delayed Sleep Phase Disorder in Young Adults: A Randomized Controlled Feasibility Study.

Delayed sleep phase disorder (DSPD) is common among young people, but there is still no evidence-based treatment available. In the present study, the feasibility of cognitive behavioral therapy (CBT) was evaluated as an additive treatment to light therapy (LT) in DSPD. A randomized controlled trial with participants aged 16 to 26 years received LT for two weeks followed by either four weeks of CBT or no treatment (NT). LT advanced sleep-wake rhythm in both groups. Comparing LT+CBT with LT+NT, no significant group differences were observed in the primary endpoints. Although anxiety and depression scores were low at pretreatment, they decreased significantly more in LT+CBT compared to LT+NT. The results are discussed and some suggestions are given for further studies.

Developing a cognitive behavioral therapy manual for delayed sleep-wake phase disorder.

This article reports the development of a treatment protocol, based on cognitive behavioral therapy (CBT) principles, for delayed sleep-wake phase disorder (DSWPD). The protocol consists of psycho-education, presenting a CBT model for DSWPD, case formulation, motivational interviewing, registering sleep in a diary, strategies to improve the rhythm of sleep and wakefulness, relaxation training, cognitive restructuring, strategies to cope with daytime symptoms, constructing an individualized CBT program, and learning how to deal with relapses. Qualitative data, focusing on how the patients perceived the protocol, were collected within the realm of a trial exploring the efficacy of the protocol. These findings highlighted several advantages but also disadvantages of the therapy. It is our hope that this paper might act as a platform for further clinical work and future research efforts in patients with DSWPD.

Prevalence of sleep-disordered breathing in children and adolescents with large horizontal maxillary overjet due to mandibular retrognathia: a case control study.

STUDY OBJECTIVES: The aim of the study was to examine the prevalence of sleep-disordered breathing (SDB) in children and adolescents with large overjet due to mandibular retrognathia compared to a control group. METHODS: In this case-control study children with large overjet ≥ 6 mm due to mandibular retrognathia (study group) were compared to a group with neutral occlusion (controls). All participants underwent respiratory polygraphy (PG) and questionnaires regarding sleepiness and snoring. Differences across groups were tested by: Chi-square, general linear model adjusted for age, sex, and body mass index (BMI), and Mann-Whitney test. Differences in results of PG were also tested by general linear model adjusted for age, sex, and BMI according to severity of mandibular retrognathia. RESULTS: Thirty-seven (19 male;18 female, median age 12.3 years) participants were included in the study group and 32 (16 male;16 female, median age 12.2 years) in the control group. No significant difference in SDB assessed by PG or questionnaires between the groups was found even though the snore index was higher in the study group (p=0.051). The snore index was higher than the parent-reported snoring. Respiration rate was significantly reduced in the study group (p=0.043), and estimated sleep time efficiency was significantly reduced in males compared to females (p<0.001). CONCLUSIONS: No significant differences in SDB were found between the groups even though the snore index was higher in the study group. The snore index of the PG was higher than the parent-reported snoring. Estimated sleep time efficiency was reduced in males. The study improves the understanding of risk of SDB in non-obese children with large overjet due to mandibular retrognathia and may contribute to an interdisciplinary approach of risk assessment of SDB in children with malocclusion. CLINICAL TRIAL REGISTRATION: NCT04964830.

The transition from children to young people living with home mechanical ventilation.

PURPOSE: This study aimed to examine how young people living with Home Mechanical Ventilation experience the transition from childhood to young adulthood in relation to everyday life, perceived health and transition into adult professional healthcare. METHODS: Nine young adults (three females and six males aged 18-31) were interviewed, and data was primary analysed using phenomenological hermeneutics. In the actual study, data was reworked using secondary analysis as described by Beck. Two interviewees were ventilated invasively and six non-invasively, and one was treated with continuous positive airway pressure (CPAP). RESULTS: The results are presented in two main categories. First; moving towards adulthood; and second, To handle changes in health and healthcare contacts. The study highlights the importance of ongoing social relations and being part of a socializing and physically active community. The transfer from paediatric to adult healthcare was solid and worked out well but was a process in which the participants struggled to find their own voice. CONCLUSIONS: The transition into adulthood is a sensitive and challenging time for young people with HMV, but stable, close relationships and a well-organized transfer can enable this group to feel safe and able to find and use their own voice.

Nocturnal sleep phenotypes in idiopathic hypersomnia - A data-driven cluster analysis.

INTRODUCTION: The diagnostic process for idiopathic hypersomnia (IH) is complex due to the diverse aetiologies of daytime somnolence, ambiguous pathophysiological understanding, and symptom variability. Current diagnostic instruments, such as the multiple sleep latency test (MSLT), are limited in their ability to fully represent IH's diverse nature. This study endeavours to delineate subgroups among IH patients via cluster analysis of polysomnographic data and to examine the temporal evolution of their symptomatology, aiming to enhance the granularity of understanding and individualized treatment approaches for IH. METHODS: This study included individuals referred to the Uppsala Centre for Sleep Disorders from 2010 to 2019, who were diagnosed with IH based on the International Classification of Sleep Disorders-3 (ICSD-3) criteria, following a thorough diagnostic evaluation. The final cohort, after excluding participants with incomplete data or significant comorbid sleep-related respiratory conditions, comprised 69 subjects, including 49 females and 20 males, with an average age of 40 years. Data were collected through polysomnography (PSG), MSLT, and standardized questionnaires. A two-step cluster analysis was employed to navigate the heterogeneity within IH, focusing on objective time allocation across different sleep stages and sleep efficiency derived from PSG. The study also aimed to track subgroup-specific changes in symptomatology over time, with follow-ups ranging from 21 to 179 months post-diagnosis. RESULTS: The two-step cluster analysis yielded two distinct groups with a satisfactory silhouette coefficient: Cluster 1 (n = 29; 42 %) and Cluster 2 (n = 40; 58 %). Cluster 1 exhibited increased deep sleep duration, reduced stage 2 sleep, and higher sleep maintenance efficiency compared to Cluster 2. Further analyses of non-clustering variables indicated shorter wake after sleep onset in Cluster 1, but no significant differences in other sleep parameters, MSLT outcomes, body mass index, age, or self-reported measures of sleep inertia or medication usage. Long-term follow-up assessments showed an overall improvement in excessive daytime sleepiness, with no significant inter-cluster differences. CONCLUSION: This exploratory two-step cluster analysis of IH-diagnosed patients discerned two subgroups with distinct nocturnal sleep characteristics, aligning with prior findings and endorsing the notion that IH may encompass several phenotypes, each potentially requiring tailored therapeutic strategies. Further research is imperative to substantiate these findings.

Young adults' narratives about living with home mechanical ventilation - a phenomenological hermeneutical study.

PURPOSE: An increasing number of children and young adults with complex medical conditions and respiratory failure are treated with home mechanical ventilation (HMV). The current study aimed to describe how young adults using HMV experience their everyday life with the ventilator, their physical impairments and their opportunities for an educational and professional career. MATERIALS AND METHODS: Data were collected via narrative interviews with nine young HMV users (3 females and 6 males, aged 18-31 years) in their homes. Two were ventilated invasively, six were ventilated non-invasively and one was treated with continuous positive airway pressure (CPAP) via facemask. Data were analysed using a phenomenological hermeneutical method. RESULT: A multi-professional team contributed to participants' safety and ability to participate in society through higher education and professional work. A good and valuable life, mostly feeling healthy were experienced but also prejudice and stiffened social society structures. CONCLUSION: The findings of this study prove the importance of having long-standing access to a competent and supportive available multi-professional healthcare team when living with a long-term complex condition. These teams provided well-functioning human and technological support in everyday lives.

An increasing number of children and young adults are treated with home mechanical ventilation due to respiratory failure.The home mechanical ventilation treatment provided rest from breathing and improved sleep quality in such a way that work and higher studies could be managed.Longstanding access to a supportive multi-professional healthcare team provided feelings of being safe, which in turn boosted self-confidence in life and preparedness to meet new challenges.

Acute sleep deprivation has no lasting effects on the human antibody titer response following a novel influenza A H1N1 virus vaccination.

BACKGROUND: Experimental studies in humans have yielded evidence that adaptive immune function, including the production of antigen-specific antibodies, is distinctly impaired when sleep is deprived at the time of first antigen exposure. Here we examined the effects of a regular 24-hour sleep-wake cycle (including 8 hours of nocturnal sleep) and a 24-hour period of continuous wakefulness on the 7-week antibody production in 11 males and 13 females in response to the H1N1 (swine flu) virus vaccination. The specific antibody titer in serum was assayed by the hemagglutination inhibition test on the days 5, 10, 17, and 52 following vaccination. RESULTS: In comparison to the sleep group, sleep-deprived males but not females had reduced serum concentration of H1N1-specific antibodies five days after vaccination, whereas antibody titers at later time points did not differ between the conditions. CONCLUSIONS: These findings concur with the notion that sleep is a supportive influence in the very early stage of an adaptive immune response to a viral antigen. However, our results do not support the view that acute sleep deprivation has lasting effects on the human antibody titer response to influenza vaccination.

Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation.

A preterm infant with central hypoventilation was diagnosed with multifocal neuroblastoma. Congenital anomalies of the autonomic nervous system in association with neuroblastoma are commonly associated with germline mutations in PHOX2B. Further, the ALK gene is frequently mutated in both familial and sporadic neuroblastoma. Sanger sequencing of ALK and PHOX2B, SNP microarray of three tumor samples and whole genome sequencing of tumor and blood were performed. Genetic testing revealed a germline ALK F1174I mutation that was present in all tumor samples as well as in normal tissue samples from the patient. Neither of the patient's parents presented the ALK variant. Array profiling of the three tumor samples showed that two of them had only numerical aberrations, whereas one sample displayed segmental alterations, including a gain at chromosome 2p, resulting in two copies of the ALK-mutated allele. Whole genome sequencing confirmed the presence of the ALK variant and did not detect any aberrations in the coding or promotor region of PHOX2B. This study is to our knowledge the first to report a de novoALK F1174I germline mutation. This may not only predispose to congenital multifocal neuroblastoma but may also contribute to the respiratory dysfunction seen in this patient.

Communication experience of individuals treated with home mechanical ventilation.

BACKGROUND: Mechanical ventilatory support seriously affects speaking and communication, and earlier studies show that many ventilator-supported patients experience difficulties and frustration with their speech and voice production. Since there is a growing number of individuals who require mechanical ventilatory support and there is a paucity of studies that examine ventilator-supported communication, this research area needs to be developed to ensure adequate health services for this population. The present study focused on ventilator-supported communication from the point of view of individuals receiving home mechanical ventilation (HMV). AIMS: The specific aim was to examine the communication experience of individuals receiving HMV. METHODS & PROCEDURES: A qualitative approach was adopted for this study, and data were collected by means of semi-structured interviews. Qualitative content analysis was used to structure, condense and interpret the data. The participants were recruited from the National Respiratory Centre (NRC) in Sweden, and included 19 individuals receiving HMV. OUTCOMES & RESULTS: The main theme A long and lonely struggle to find a voice and six subthemes detailing different facets of it emerged from data analysis: Managing changed speech conditions, Prioritising voice, A third party supporting communication, Using communication to get things done, Depending on technology, and Facing ignorance. Important aspects influencing the ventilator-supported individuals' communicative performance (speech, support from others and technological solutions) are discussed. CONCLUSIONS & IMPLICATIONS: The study revealed that healthcare practitioners involved in the care of individuals receiving HMV need to improve their understanding and knowledge of issues related to ventilator-supported communication. Individuals receiving HMV encounter a needlessly long and lonely struggle to achieve effective communication. They face numerous challenges regarding their communication, and they need to be heard in both literal and figurative senses. To overcome these challenges they need support from competent healthcare practitioners and personal assistants, and continuous follow-up by speech and language therapists tailoring communicative solutions to fit individual needs.

Rapid maxillary expansion in children with nocturnal enuresis: A randomized placebo-controlled trial.

OBJECTIVE: To investigate whether rapid maxillary expansion (RME) is a useful treatment method for nocturnal enuresis (NE) and whether the treatment effect is due to placebo. The study also aimed to identify prognostic variables in patients responding to treatment. MATERIALS AND METHODS: Thirty-eight children with therapy-resistant NE were recruited and randomized into two groups: the intervention group or placebo group. Both groups were treated with RME, but the placebo group received treatment with a sham appliance for 2 weeks before having the actual treatment. A medical history focused on micturition habits, previous treatment, heredity, and sleep disorders was taken. Daytime voided volumes and nocturnal urine production during wet nights were recorded before the intervention. RESULTS: Of the 38 patients recruited, two dropped out as one patient was unable to take dental impressions and one refused to have the appliance fitted. There was a statistically significant reduction of wet nights after the RME treatment (P < .001). No significant reduction was found after the placebo treatment (P < .40). Eleven patients (35%) had their enuresis frequency reduced by >50%. Large voiding volume and a wide maxilla at baseline had a strong association with positive treatment outcome. CONCLUSIONS: RME has a modest effect on children with therapy-resistant NE. The treatment outcome does not seem to be due to a placebo effect of the appliance. A wide maxillary width and large voiding volume at baseline seem to be positive predictors regarding response to treatment.