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.

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.

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.

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.

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.

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.

BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research. CONCLUSION: Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.

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.

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.

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.

Sleep patterns in a randomized controlled trial of auricular acupuncture and cognitive behavioral therapy for insomnia.

The aim of the study was to objectively examine how sleep patterns were affected in a short- and long-term perspective after auricular acupuncture (AA) and cognitive behavioral therapy for insomnia (CBT-i). Sixty participants with insomnia disorders (men/women 9/51; mean age of 60.5 years, (SD 9.4)), were randomized to group treatment with AA or CBT-i. Actigraphy recordings were made at baseline, post-treatment and 6-month follow-up. The CBT-i group reduced their time in bed, their actual sleeping time, their sleep latency and their actual time awake. The AA group slept longer, increased their time in bed and decreased their sleep latency post-treatment. The between-groups results differed in wake-up time, rising, time in bed, actual sleep time and actual wake time. The differences were not maintained six months later. In accordance with previous findings the results support the notion that the objective sleep time does not necessarily affect the subjective perception of insomnia.

Sleep disordered breathing in enuretic children and controls.

INTRODUCTION: Nocturnal enuresis and sleep disordered breathing are common childhood problems that are reported to be associated with each other. Sleep disordered breathing is often found in children with upper airway obstruction and, according to some studies, its presence is associated with an increased risk of nocturnal enuresis. Respiration during sleep in children with therapy-resistant enuresis, but no history of snoring or sleep apneas, has previously been investigated, and subclinical signs of disordered respiration were found in this group. However, sleep disordered breathing in enuretic children without a history of snoring or sleep apneas has not been thoroughly studied before. AIM: To evaluate sleep disordered breathing in enuretic children and compare them with healthy control children. SUBJECTS AND METHODS: Children aged 8-13 years with nocturnal enuresis were included. Exclusion criteria were: daytime incontinence, on-going anti-enuretic treatment, and concomitant urological, endocrinological, nephrological or psychiatric disorders. Twenty children (19 boys and 1 girl) suffering from therapy-resistant nocturnal enuresis, and 21 healthy controls (18 boys and 3 girls) underwent one night of polygraphic sleep registration focused on respiratory variables. The registration included electroencephalography as well as assessment of respiratory movements, nasal airflow and oxygen saturation; it was performed with a portable sleep device at the subjects' homes. In addition to this, OSA 18, a health-related quality of life instrument, was used to evaluate subjective issues related to sleep and breathing. RESULTS: The mean apnea hypopnea index values were 0.96 ± 0.8 for the patient group and 0.46 ± 0.4 for the control group. The oxygen desaturation index was slightly higher for the children with nocturnal enuresis compared with the healthy controls (P = 0.05). No other differences were found in the respiratory variables. Both groups of children showed low levels of arousals (Summary Table). The enuretic children reported significantly more subjective sleep disturbances and a lower quality of life than their healthy peers. DISCUSSION: This was the first controlled study of sleep disordered breathing in children with nocturnal enuresis. One limitation of the study was that some variables were known to be underestimated when scoring polygraphic data. The apnea hypopnea index was such a variable and was indeed lower than in a previous study. CONCLUSION: No major differences in respiration during sleep were found between enuretic children and controls.

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.

Delayed sleep phase disorder in a Swedish cohort of adolescents and young adults: Prevalence and associated factors.

A delayed sleep-wake and circadian rhythm often occurs during puberty. While some individuals only develop a delayed sleep phase (DSP), others will fulfill the criteria for the diagnosis of delayed sleep phase disorder (DSPD). All previous studies have however not separated DSP from DSPD, and, as a result, the prevalence and associated factors are largely unknown for the two conditions individually. We estimated the prevalence of DSP and DSPD in a Swedish cohort of adolescents and young adults. We also investigated associated factors in the two conditions relative to each other and individuals with no DSP. A questionnaire regarding sleep patterns, demographics, substance use/abuse and symptoms of depression, anxiety, worry and rumination was sent to 1000 randomly selected participants (16-26 years of age) in Uppsala, Sweden (response rate = 68%). DSP was defined as a late sleep onset and a preferred late wake-up time. The DSPD diagnosis was further operationalized according to the Diagnostic and Statistical Manual of Mental Disorders, Edition 5 (DSM-5) criteria including insomnia or excessive sleepiness, distress or dysfunction caused by the DSP and that the sleep problem had been evident for 3 months. DSP occurred at a frequency of 4.6% and DSPD at a frequency of 4% in the investigated cohort. DSP was more common in males and was associated with not attending educational activity or work, having shift work, nicotine and alcohol use and less rumination. DSPD was equally common in males and females and was associated with not attending educational activity or work and with elevated levels of anxiety. Both DSP and DSPD appear to be common in adolescents and young adults in this Swedish cohort. No educational activity or work was associated with both DSP and DSPD. However, there were also apparent differences between the two groups in shift work, substance use and mental health, relative to persons with no DSP. Thus, it seems reasonable to assess DSP and DSPD as distinct entities in future 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.

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.

Communicating with individuals receiving home mechanical ventilation: the experiences of key communication partners.

PURPOSE: The aim of the study was to explore the communication experiences of key communications partners (CPs) of individuals receiving home mechanical ventilation (HMV), with particular emphasis on the possibilities, difficulties and limitations CPs experienced in communication, possible support given to facilitate communication and exploring what made a skilled communicator. METHOD: A qualitative research design using interviews was used. The participants included 19 key CPs of individuals receiving HMV. RESULTS: The analysis resulted in five themes: Encountering communication limitations, Functional communication strategies, Being a communication facilitator, Role insecurity and Emotional reactions and coping. The findings revealed that CPs needed to develop partly new reference frames for communication. In particular, participants emphasised the need to understand and interpret subtle details in the communicative interaction. CONCLUSIONS: The findings are discussed in the light of previous research, in particular an earlier study exploring another perspective; the ventilator-supported individuals' experiences of communication. Issues relating to the educational needs of CPs of individuals receiving HMV are discussed. The results are intended to enhance understanding of the challenges that individuals receiving HMV and their CPs face with communication, which should be of relevance not only to speech therapists, but for all healthcare practitioners in the field of HMV.