rett syndrome sleep disturbance

the study showed that sleep problems occurred in more than 80% of individuals and the prevalence decreased with age. in the same study we also found that the prevalence of night laughter decreased with age and sleep problems were more likely in those with certain genotypes such as large deletion, p.r294x or p.r306c mutation. in a randomized crossover trial of melatonin (n=9), time to sleep onset decreased but there was no change in the frequency of night waking (mcarthur and budden, 1998). generalized estimating equations (gee) (zeger and liang, 1986), a generalized linear model that accounts for within-subject correlation of responses on dependent variables, was used to estimate the occurrence of any sleep problem and specific sleep problems as binary variables for the explanatory variables age group and mutation type, with the latter adjusted for age. for night laughing, 60–88% of girls in the youngest age group experienced the problem and it was more frequent in 2006 and 2009 when compared to other time points.




two distinct developmental trajectories were found for the presence of any sleep problem, night laughing and night screaming, and the probability of these sleep problems was estimated as a linear function of age. the prevalence of sleep problems in rett syndrome was high (>80%), consistent with our previous population-based findings (young et al., 2007). we previously reported that the prevalence of sleep problems was higher during childhood and slightly lower in adulthood (young et al., 2007). sleep problems are extremely common in rett syndrome with significant burden for health and wellbeing of both those with rett syndrome and their families. there is an urgent need to understand the mechanisms of sleep dysfunction in rett syndrome and thereafter identify and test treatments for its amelioration.

the aim of this review is to analyze pathophysiology, clinical features, the impact on other comorbidities and the management of sleep disorders in rett syndrome and rett-related syndrome. the aim of this review is to analyze the pathophysiology, clinical features and impact of sleep disorders in rtt syndrome and rtt-related syndrome. a period of regression in addition to at least two of the four basic criteria and five of the 11 supporting criteria are necessary for ar diagnosis (table 2). 80.3% of females in the interrett database and 85.72% of females in rnd show stereotypes of the hands. forkhead box g1 (foxg1) mutation was first described in 2005 in a girl with microcephaly, global developmental delay and agenesis of the corpus callosum (32). mecp2 duplication syndrome (mdp) is related to the overexpression of mecp2 gene and can overlap with rtt. described a case of congenital hypoventilation syndrome in a patient with mds. it is involved, in chromatin compaction and in the modulation of rna splicing (49, 50, 55, 56). between subdomains vii and viii, there is an activation loop whose autophosphorylation results in the activation of the catalytic function of cdkl5. missense mutations are predominantly located in the region coding for the catalytic domain and result in a loss of enzyme activity, which is responsible for the onset of the disease. in the context of such a complex syndrome with health and behavioral problems (autonomic dysregulation, motor impairment, epilepsy, swallowing dysfunction, gastrointestinal and orthopedic comorbidities) sleep problems are extremely frequent and relevant (85, 88). conducted a study, aimed at assessing the management and impact of sleep disorders in a group of 364 families with a child with rtt, registered in the international rtt phenotype database. the prevalence and elements of sleep disorders were further detailed by boban et al. furthermore, an improving trend with increasing age is described in accordance with the high prevalence of sleep disturbances shown in patients younger than 7 years and with wong et al. probably, in this type of subject, intellectual disability and the environment have a strong influence. in contrast in a study of 30 patients by marcus et al. a possible role of mecp2 has emerged in the circadian system and a possible correlation with sleep problems observed in rtt patients (128, 129). a multidisciplinary approach is necessary in patients with neurodevelopmental disorders, such as rtt, to identify the clinical features that have the greatest impact on the quality of life of the patient and their family (147). sleep hygiene strategies were used by 2/3 of the families with a reduction in night waking. in the assessment of a patient with rtt, sleep must be considered among the areas of evaluation and its characteristics must be investigated. doi: 10.1002/ana.22124 6. krajnc n. management of epilepsy in patients with rett syndrome: perspectives and considerations. doi: 10.1016/j.neubiorev.2019.05.013 9. hagberg b. clinical manifestations and stages of rett syndrome. genotype and early development in rett syndrome: the value of international data. doi: 10.1007/s10354-016-0498-2 22. downs j, leonard h. quantitative and qualitative insights into the experiences of children with rett syndrome and their families. prevalence and onset of comorbidities in the cdkl5 disorder differ from rett syndrome.

the three stages of epilepsy in patients with cdkl5 mutations. foxg1 is responsible for the congenital variant of rett syndrome. the incidence, prevalence and clinical features of mecp2 duplication syndrome in australian children. sleep-disordered breathing and nocturnal hypoventilation in children with the mecp2 duplication syndrome: a case series and review of the literature. doi: 10.1002/ajmg.a.33311 49. pejhan s, rastegar m. role of dna methyl-cpg-binding protein mecp2 in rett syndrome pathobiology and mechanism of disease. doi: 10.1371/journal.pone.0090645 55. stein r, razin a, cedar h. in vitro methylation of the hamster adenine phosphoribosyltransferase gene inhibits its expression in mouse l cells. mecp2 dysfunction in rett syndrome and related disorders. characterisation of cdkl5 transcript isoforms in human and mouse. cdkl5 belongs to the same molecular pathway of mecp2 and it is responsible for the early-onset seizure variant of rett syndrome. imbalance of excitatory/inhibitory synaptic protein expression in ipsc-derived neurons from foxg1(+/-) patients and in foxg1(+/-) mice. an atypical rett syndrome phenotype due to a novel missense mutation in cacna1a. the feasibility of using actigraphy to characterize sleep in rett syndrome. determinants of sleep disturbances in rett syndrome: novel findings in relation to genotype. doi: 10.1016/s0387-7604(12)80213-0 97. wong k, leonard h, jacoby p, ellaway c, downs j. the trajectories of sleep disturbances in rett syndrome. longitudinal course of epilepsy in rett syndrome and related disorders. doi: 10.1016/j.ejpn.2007.02.008 107. wirrell e, blackman m, barlow k, mah j, hamiwka l. sleep disturbances in children with epilepsy compared with their nearest-aged siblings. rules for scoring respiratory events in sleep: update of the 2007 aasm manual for the scoring of sleep and associated events. doi: 10.1016/s0022-3476(94)70196-2 119. bassett e, heinle r, johnston d. sleep apnea in patients with rett syndrome: roles for polysomnography and adenotonsillectomy. differential distribution of the mecp2 splice variants in the postnatal mouse brain. rescue of prepulse inhibition deficit and brain mitochondrial dysfunction by pharmacological stimulation of the central serotonin receptor 7 in a mouse model of cdkl5 deficiency disorder. twenty-four hour quantitative-eeg and in-vivo glutamate biosensor detects activity and circadian rhythm dependent biomarkers of pathogenesis in mecp2 null mice. anxiety-related mechanisms of respiratory dysfunction in a mouse model of rett syndrome. mglu5 positive allosteric modulation normalizes synaptic plasticity defects and motor phenotypes in a mouse model of rett syndrome. doi: 10.1523/jneurosci.0672-16.2016 147. corchón s, carrillo-lópez i, cauli o. quality of life related to clinical features in patients with rett syndrome and their parents: a systematic review. doi: 10.1007/s00787-018-1214-0 152. lee j. maternal stress, well-being, and impaired sleep in mothers of children with developmental disabilities: a literature review. doi: 10.1111/j.1600-079x.2007.00485.x citation: tascini g, dell’isola gb, mencaroni e, di cara g, striano p and verrotti a (2022) sleep disorders in rett syndrome and rett-related disorders: a narrative review.

the study showed that sleep problems occurred in more than 80% of individuals and the prevalence decreased with age. night laughing and night sleep impairment is an area of overlap between rtt and mecp2 duplication syndrome along with epilepsy, regression and others. sleep dysfunction sleep issues are common in children with rett syndrome, observed in about 80% of patients, and are one of the leading problems in addition to behavioral,, symptoms of rett syndrome, symptoms of rett syndrome, related conditions.

we have demonstrated the high prevalence of sleep problems in rett syndrome (80-94% in different age groups in 2004). sleep problems were identified most frequently in the younger age group. daytime napping, night-time laughter, teeth grinding, night screaming and seizures were the problems most frequently reported. sleep disturbances are debilitating for individuals with rett syndrome (rtt) and their families yet the evidence base for management is poor sleep disturbances affect 80 percent or more patients with rett syndrome [1]. these sleeping disorders often present themselves as: screaming,. aberrant sleep patterns are commonly experienced by girls with the rett syndrome. in this investigation, the problematic sleep of three girls with the rett, .

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