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Sleep problems are prevalent among individuals with Rett syndrome. We aimed to investigate sleep problems in individuals with Rett syndrome and their caregivers. A total of 29 participants diagnosed with Rett syndrome and their respective 29 caregivers were included. The Children Sleep Habits Questionnaire (CSHQ), the Pittsburgh Sleep Quality Index (PSQI), the Center for Epidemiologic Studies Depression Scale (CES-D), and the actigraphy data collected from Actiwatch 2 were used to investigate the change of sleep pattern. Based on the CSHQ questionnaire, 75.9% (22/29) of the patients reported sleep disturbances. The younger patients exhibited higher CSHQ scores. Actigraphy data revealed that both young and older patients had short total sleep duration, low sleep efficiency, long sleep-onset latency, long awaking duration, and fragmented sleep. The caregivers reported significantly higher PSQI scores, mildly declined sleep efficiency, and shorter total sleep duration in the actigraphy study. Associations were identified between smaller head circumference and shorter total sleep duration, more severe motor dysfunction and longer wake after sleep onset, worsen scoliosis and more awakenings per night. Sleep efficiency was inversely associated with epilepsy and positively associated with somatic growth. Sleep disturbances are common and should be investigated in individuals with Rett syndrome and their caregivers. Sleep problems are common and impactful among individuals with Rett syndrome (RTT) and their caregivers. We examined the sleep patterns of 29 RTT patients and their primary caregivers using various assessment tools. The study found that a majority of the patients experienced sleep disturbances, with younger patients showing more sleep difficulties. Caregivers also reported poor sleep quality. The findings emphasize the need to address sleep problems in RTT management, as improving sleep quality can positively impact the well-being of individuals with RTT and their caregivers. [ABSTRACT FROM AUTHOR]

ObjectiveTo conduct a randomized trial to test the primary hypothesis that once-daily tadalafil, administered orally for 48 weeks, lessens the decline in ambulatory ability in boys with Duchenne muscular dystrophy (DMD).MethodsThree hundred thirty-one participants with DMD 7 to 14 years of age taking glucocorticoids were randomized to tadalafil 0.3 mg·kg-1·d-1, tadalafil 0.6 mg·kg-1·d-1, or placebo. The primary efficacy measure was 6-minute walk distance (6MWD) after 48 weeks. Secondary efficacy measures included North Star Ambulatory Assessment and timed function tests. Performance of Upper Limb (PUL) was a prespecified exploratory outcome.ResultsTadalafil had no effect on the primary outcome: 48-week declines in 6MWD were 51.0 ± 9.3 m with placebo, 64.7 ± 9.8 m with low-dose tadalafil (p = 0.307 vs placebo), and 59.1 ± 9.4 m with high-dose tadalafil (p = 0.538 vs placebo). Tadalafil also had no effect on secondary outcomes. In boys >10 years of age, total PUL score and shoulder subscore declined less with low-dose tadalafil than placebo. Adverse events were consistent with the known safety profile of tadalafil and the DMD disease state.ConclusionsTadalafil did not lessen the decline in ambulatory ability in boys with DMD. Further studies should be considered to confirm the hypothesis-generating upper limb data and to determine whether ambulatory decline can be slowed by initiation of tadalafil before 7 years of age.Clinicaltrialsgov identifierNCT01865084.Classification of evidenceThis study provides Class I evidence that tadalafil does not slow ambulatory decline in 7- to 14-year-old boys with Duchenne muscular dystrophy.

This pilot study investigates the feasibility and assesses the impact of Lactobacillus plantarum PS128 probiotics on the neurological function in Rett syndrome. We conducted a randomized, double-blind, and placebo-controlled trial on Rett syndrome with MECP2 mutation aged between 1 and 50 years in Taiwan. In this pilot study, twice-daily L. plantarum PS128 or placebo was administered for 16 weeks. In addition to feasibility, we also assessed the changes utilizing the Mullen Scales of Early Learning. In total, 36 participants were finally randomized into L. plantarum PS128 (n = 18) or placebo (n = 18) groups. At the end of intervention, the retention rates were 100% for L. plantarum PS128 and 94.44% for placebo, with withdrawal rates of 5.56% for the placebo group. Both groups tolerated well, except for one L. plantarum PS128 participant who reported loose stool. The probiotic group showed a change of 2.19 ± 3.76, while the placebo group had −0.85 ± 5.09 (p = 0.051) in the total age-equivalent scores of Mullen Scales of Early Learning. There was a significant difference in the change of the total score on the Burke–Fahn–Marsden Movement Scale between probiotc group and placebo group (−12.19 ± 12.12 vs −4.59 ± 4.20, p = 0.020). In leg dystonia, the probiotic group exhibited a change of −4.11 ± 5.11 compared with −0.38 ± 1.50 in the placebo group (p = 0.008). Our findings affirm the feasibility of L. plantarum PS128 in Rett syndrome. Future clinical trials are mandatory to further explore its long-term impact on Rett syndrome. Rett syndrome often involves gastrointestinal symptoms and gut microbiota imbalances. We conducted a study to explore the feasibility of probiotic Lactobacillus plantarum PS128 and the impact on neurological functions in Rett syndrome. The results of our investigation demonstrated that the supplementation of probiotic L. plantarum PS128 was feasible and well tolerated, with 100% retention rate and 0% withdrawal rate. In addition, there was only one participant who had loose stool after taking L. plantarum PS128. Further, there was a tendency to enhance overall cognitive developmental level, as assessed using Mullen Scales of Early Learning. In addition, it significantly improved dystonia, as assessed using the Burke–Fahn–Marsden Movement Scale, in comparison with the placebo group. This study provides a strong foundation for future research and clinical trials exploring the potential of L. plantarum PS128 probiotics as a complementary therapy for individuals with Rett syndrome. [ABSTRACT FROM AUTHOR]

Summary: Sleep disturbances in children with epilepsy are prevalent, and are associated with substantial adverse medical and psychosocial consequences. This study is a 5‐year follow‐up of a clinic‐based sleep intervention study that randomized 100 toddlers and preschool‐age children with epilepsy to a usual care group or a sleep intervention group. The intervention group received standard paediatric neurology care plus three education sessions during the child's routine clinic visit. The outcomes measured were: (1) child sleep by actigraphy and parental report; and (2) maternal sleep and depression. We aimed to evaluate the long‐term benefits of a clinic‐based sleep intervention for paediatric epilepsy. In total, 42 families (42.0%) participated. The average child's age at follow‐up was 9.55 years. Thirty‐eight (90.5%) children were not obtaining sufficient sleep at baseline, and 40 (95.2%) at the 5‐year follow‐up. The numbers of children with clinically significant sleep disturbances were 40 (95.2%) at baseline and 36 (85.7%) at the 5‐year follow‐up. Fourteen mothers (33.3%) had poor sleep quality and high depressive symptoms at both assessment time points. There were no differences (P > 0.05) in the child and maternal outcomes between the two trial arms. Overall, there was no evidence that a clinic‐based sleep intervention that effectively improved multiple aspects of sleep in toddlers and preschool‐age children with epilepsy had long‐lasting beneficial effects. Our findings suggest that sleep interventions for families of children with epilepsy require ongoing reinforcement and monitoring during routine paediatric neurology care to prevent sleep problems from persisting or recurring. [ABSTRACT FROM AUTHOR]