Early childhood-onset restless legs syndrome: symptoms and effect of oral iron treatment.

AIM: To describe symptoms of restless legs syndrome (RLS) in early childhood and the effect of oral iron treatment. METHODS: A study population comprising 22 children, 15 males and seven females referred for paediatric evaluation because of sleep disturbances. Presence of RLS was evaluated using the International RLS Study Group consensus criteria of RLS. In case of ferritin level below 50 ng/mL, oral iron treatment was initiated. Fourteen were examined by polysomnography as well, and periodic limb movement index during sleep (PLMSI) was calculated. Relief of symptoms was recorded by the parents and correlated with ferritin levels and PLMSI. RESULTS: Median age at onset of symptoms was 7.5 months (0-40 months). The most striking single symptom was awakening after 1-3 h of sleep followed by screaming, crying, kicking or hitting the legs. Oral iron supplementation had a positive ferritin-concentration-dependent clinical effect. A relation between high PLMSI and low ferritin levels was demonstrated. CONCLUSION: Symptoms of RLS may start as early as the first year of life, are accompanied by low ferritin levels and a high PLMSI and can be ameliorated by iron supplementation. An increased awareness and knowledge of RLS in early childhood are warranted.

Assessment of sleep parameters during contingent electrical stimulation in subjects with jaw muscle activity during sleep: a polysomnographic study.

There is emerging evidence that feedback techniques based on contingent electrical stimulation (CES) have an inhibitory effect on the electromyogram (EMG) activity of jaw-closing muscles and therefore could be useful in the management of sleep bruxism. This polysomnographic (PSG) study was designed to investigate the effect of CES on PSG parameters in subjects with self-reported bruxism. Fourteen subjects underwent a full PSG investigation in the laboratory for three consecutive nights - one night of adaptation, one night without CES, and one night with CES - in a randomized order. During all sessions the EMG activity was recorded by a portable feedback device from the temporalis muscle. An electrical pulse, which was adjusted to a moderate, but non-painful, intensity, was applied to subjects during the session with CES, if jaw-muscle activity was detected. The total sleep time, the number of micro-arousals per hour of sleep, the time spent in sleep stages 3 and 4 and in rapid eye movement (REM) sleep, and the number of periodic limb movements, were not influenced by CES. The number of EMG episodes per hour of sleep during the nights with and without CES was not significantly different. The present study suggests that CES at non-painful intensities does not cause major arousal responses in any of the sleep parameters assessed in this study.

Effects of Growth Hormone Treatment on Sleep-Related Parameters in Adults With Prader-Willi Syndrome.

CONTEXT: Prader-Willi syndrome (PWS) is a rare, genetic, multisymptom, neurodevelopmental disease due to lack of the expression of the paternal genes in the q11 to q13 region of chromosome 15. The main characteristics of PWS are muscular hypotonia, hyperphagia, obesity, behavioral problems, cognitive disabilities, and endocrine deficiencies, including growth hormone (GH) deficiency. Sleep apnea and abnormal sleep patterns are common in PWS. GH treatment might theoretically have a negative impact on respiration. OBJECTIVE: Here we present the effect of GH treatment on polysomnographic measurements. METHODS: Thirty-seven adults, 15 men and 22 women, with confirmed PWS were randomly assigned to 1 year of GH treatment (n = 19) or placebo (n = 18) followed by 2 years of GH treatment to all. Polysomnographic measurements were performed every 6 months. A mixed-effect regression model was used for comparison over time in the subgroup that received GH for 3 years. RESULTS: At baseline median age was 29.5 years, body mass index 27.1, insulin-like growth factor 115 µg/L, apnea-hypopnea index (AHI) 1.4 (range, 0.0-13.9), and sleep efficiency (SE) 89.0% (range, 41.0%-99.0%). No differences in sleep or respiratory parameters were seen between GH- and placebo-treated patients. SE continuously improved throughout the study, also after adjustment for BMI, and the length of the longest apnea increased. AHI inconsistently increased within normal range. CONCLUSION: SE improved during GH treatment and no clinical, significantly negative impact on respiration was seen. The etiology of breathing disorders is multifactorial and awareness of them should always be present in adults with PWS with or without GH treatment.

Users' Experiences With Home Mechanical Ventilation: A Review of Qualitative Studies.

BACKGROUND: Users of home mechanical ventilation encounter major psychological and physiologic challenges. To ensure well-functioning home mechanical ventilation, users' experiences of care and treatment are important knowledge to supplement clinical perspectives. This systematic review aimed to summarize current qualitative evidence regarding experiences of home mechanical ventilation users. METHODS: By following Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines, 9 databases were systematically searched. Seven studies met the inclusion criteria after title and/or abstract screening and full-text assessment. These were appraised by using the Relevance, Appropriateness, Transparency, Soundness checklist. Thematic analysis guided data extraction and identification of the findings. The Confidence in the Evidence for Reviews of Qualitative Research tool was applied to assess the confidence of the findings. RESULTS: The review showed high confidence in 4 findings: an increase in quality of life, feeling forced to accept home mechanical ventilation, collaboration between home-care assistants and users of home mechanical ventilation is challenging, and information about the technology from a user's perspective. The review showed moderate confidence in 2 findings: living at home is pivotal for a normalized everyday life, and home mechanical ventilation causes a life with continued worries and uncertainty. CONCLUSIONS: According to the users, treatment by home mechanical ventilation resulted in increased well-being and facilitated a community- and home-based lifestyle compared with institutional-based treatment. However, the users also expressed difficulties in coming to terms with the necessary extensive surveillance, which gave rise to a sense of undermined autonomy and self-determinism as well as continued worries and uncertainty. The users called this situation dependent independency. As a result of the review we call for an increased focus on a patient-centered treatment and care.