Mutations in the human O-phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene (SEPSECS) are associated with progressive cerebello-cerebral atrophy (PCCA), also known as pontocerebellar hypoplasia type 2D (PCH2D). Early-onset profound developmental delay, progressive microcephaly, and hypotonia that develops toward severe spasticity have been previously reported with SEPSECS mutations. Herein we report a case with severe global developmental delay, myogenic changes in the lower limbs, and insomnia, but without progressive microcephaly and brain atrophy during infancy and toddlerhood in a child harboring the SEPSECS missense variant c.194A>G (p. Asn65Ser) and a novel splicing mutation c.701+1G>A. With these findings we communicate the first Chinese SEPSECS mutant case, and our report indicates that SEPSECS mutations can give rise to a milder phenotype.
Summary Sleep is vital for children's early socio‐emotional development, particularly empathy. This study aimed to explore the associations between sleep and empathy in young preschoolers. A sample of 23,259 preschoolers (4.3 ± 0.3 years) at the entry year of preschool was recruited as part of the Shanghai Children's Health, Education and Lifestyle Evaluation‐Preschool (SCHEDULE‐P) study. Caregivers reported on child sleep, affective empathy, and cognitive empathy through the Children's Sleep Habits Questionnaire and the Griffith Empathy Measure. Ordinary least‐square regression and quantile regression were performed for the associations between sleep and empathy. Sex differences were also investigated. Night sleep duration was negatively associated with affective empathy ( β = −0.35, p < 0.001), and positively associated with cognitive empathy ( β = 0.41, p < 0.001). Longer nap duration was associated with higher affective empathy ( β = 0.28, p < 0.001). Sleep disturbances were positively associated with affective empathy ( β = 0.04, p < 0.001) and negatively associated with cognitive empathy ( β = −0.09, p < 0.001). These associations were generally stronger in children at higher empathy quantiles and also those at the 10 th cognitive empathy quantile. The associations between sleep and affective empathy were mainly contributed by girls, and were more common in boys in terms of cognitive empathy, particularly at the 10 th and the 30 th quantiles. In conclusion, longer night sleep duration and fewer sleep disturbances are associated with a more mature empathy pattern in young preschoolers. The associations are more prominent in children at the higher end of the empathy spectrum, and vary by sex. These findings highlight the importance to promote sleep health in young children for optimal socio‐emotional development.
To investigate trajectories of early childhood sleep in the first three years and association with maternal depressive symptoms.Data was from 243 Chinese mother-child dyads. Children's sleep duration and night-waking were assessed using the Brief Infant Sleep Questionnaire (BISQ) at 42 days, 3, 6, 9, 12, 18, 24, and 36 months postpartum. The Center for Epidemiological Survey-Depression Scale (CES-D), Edinburgh Postnatal Depression Scale (EPDS), and Profile of Mood States (POMS) were used to assess maternal depressive symptoms at late pregnancy, 42 days, and 36 months postpartum, respectively. Early childhood sleep trajectories were estimated with group-based trajectory models. The association between early childhood sleep trajectories and maternal depressive symptoms were examined with binary and multinomial logistic regression models and linear regression models.Three trajectories of daytime sleep duration ("short", 14.4%; "medium", 60.4%; "long", 25.2%), nighttime sleep duration ("increasing", 17.6%; "stable",76.3%; "decreasing",6.1%), and total sleep duration ("short", 21.5%; "medium", 59.9%; "long",18.6%), and two trajectories of night-waking ("resolving", 22.9%; "persistent", 77.1%) were identified. Controlling for confounding factors, maternal depression at 42 days postpartum was associated with higher risks for short daytime sleep duration and persistent night-waking in children. Persistent night-waking in children was associated with increased maternal depressive symptoms at 36 months postpartum.Early childhood sleep follows distinct trajectories in the first three years of life. The trajectories of short daytime sleep duration and persistent night-waking are associated with maternal depression. The findings indicate tailored interventions should target both unfavorable early childhood sleep trajectories and maternal depression.
Importance Sleep disturbances and mental health problems are highly comorbid and bidirectionally correlated across childhood. The association between the natural history of sleep disturbances and the transition of mental health problems has not been quantified. Objective To examine the association between the natural history of sleep disturbances and resolved and incident emotional and behavioral difficulties (EBDs). Design, Setting, and Participants This cohort study used data from the Shanghai Children’s Health, Education and Lifestyle Evaluation–Preschool (SCHEDULE-P), a prospective and population-based longitudinal cohort study of children enrolled in preschools in Shanghai, China, from November 10 to 24, 2016. A total of 20 324 children aged 3 to 4 years were recruited from the junior class of 191 kindergartens, of whom 17 233 (84.8%) participated in the 2-year follow-up. A multilevel regression model was used to evaluate the association between the development of sleep disturbances and the occurrence of resolved and incident EBDs. The data analysis spanned from August 4, 2021, to October 31, 2023. Exposures Sleep disturbances were assessed using the Children’s Sleep Habit Questionnaire; EBDs were assessed using the Strengths and Difficulties Questionnaire. Main Outcomes and Measures Occurrence of incident and resolved EBDs at the 2-year follow-up. Results The cohort included 17 182 participants, with a mean (SD) age of 3.73 (0.29) years at enrollment; 52.0% were boys. The prevalence of EBDs at school entry and graduation years was 27.8% and 18.7%, respectively, while the prevalence of sleep disturbances was 41.3% and 31.5%, respectively. Among those with EBDs at the entry year, 35.0% maintained stability in the graduation year, while sleep disturbances were stable in 50.0% of those with sleep disturbances. After controlling for confounding factors, the odds ratio (OR) for resolved EBDs was lower in the incident sleep disturbance (ISD) group (OR, 0.50 [95% CI, 0.41-0.62]; P &lt; .001) and stable sleep disturbance (SSD) group (OR, 0.47 [95% CI, 0.40-0.56]; P &lt; .001) compared with the group with no sleep disturbances. The ORs for incident EBDs among the ISD group (OR, 2.58 [95% CI, 2.22-3.01]; P &lt; .001) and SSD group (OR, 2.29, [95% CI, 1.98-2.64]; P &lt; .001) were higher than among the group with no sleep disturbances. Conclusions and Relevance In this prospective cohort study, the natural history of sleep disturbances among preschool-aged children was associated with both resolved and incident EBDs. Routine screening and precise intervention for sleep disturbances may benefit the psychosocial well-being of this population.
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