Daytime sleep duration during infancy as an indicator for cognitive development at school age: a prospective cohort study.

STUDY OBJECTIVES: The reduction in daytime sleep during early life is considered one of the indicators of the maturation of sleep patterns, which is closely associated with cognitive development. The current study aims to analyze the relationships between daytime sleep duration (DSD) during infancy and cognitive development at 6 and 10 years. METHODS: The study included 262 mothers with their newborns from the Shanghai Sleep Birth Cohort Study, spanning eleven follow-ups from 42 days to 10 years. Sleep parameters were assessed using parent-report questionnaires at each follow-up, and cognitive development was evaluated with the Wechsler Intelligence Scale for Children, 4th edition at 6 and 10 years. RESULTS: Two distinct DSD trajectories in early childhood were identified: "typical DSD" (66.7%) and "infancy excessive DSD" (33.3%). Children in the "infancy excessive DSD" trajectory exhibited lower working memory scores than those in the "typical DSD" trajectory at 6 years (Mean difference=5.90, 95% CI [1.83, 9.96], p=0.005) and 10 years (Mean difference=4.37, 95% CI [0.26, 8.48], p=0.037). Additional analysis in a relatively homogeneous sample consistently showed correlations between DSD trajectories and working memory performance. No consistent significant differences were found in other domains of cognitive development. CONCLUSIONS: Excessive daytime sleep during infancy may serve as an early indicator for poor working memory at school age. These findings raise concerns about the long-term cognitive development of infants with excessive DSD.

CARE as a wearable derived feature linking circadian amplitude to human cognitive functions.

Circadian rhythms are crucial for regulating physiological and behavioral processes. Pineal hormone melatonin is often used to measure circadian amplitude but its collection is costly and time-consuming. Wearable activity data are promising alternative, but the most commonly used measure, relative amplitude, is subject to behavioral masking. In this study, we firstly derive a feature named circadian activity rhythm energy (CARE) to better characterize circadian amplitude and validate CARE by correlating it with melatonin amplitude (Pearson's r = 0.46, P = 0.007) among 33 healthy participants. Then we investigate its association with cognitive functions in an adolescent dataset (Chinese SCHEDULE-A, n = 1703) and an adult dataset (UK Biobank, n = 92,202), and find that CARE is significantly associated with Global Executive Composite (ß = 30.86, P = 0.016) in adolescents, and reasoning ability, short-term memory, and prospective memory (OR = 0.01, 3.42, and 11.47 respectively, all P < 0.001) in adults. Finally, we identify one genetic locus with 126 CARE-associated SNPs using the genome-wide association study, of which 109 variants are used as instrumental variables in the Mendelian Randomization analysis, and the results show a significant causal effect of CARE on reasoning ability, short-term memory, and prospective memory (ß = -59.91, 7.94, and 16.85 respectively, all P < 0.0001). The present study suggests that CARE is an effective wearable-based metric of circadian amplitude with a strong genetic basis and clinical significance, and its adoption can facilitate future circadian studies and potential intervention strategies to improve circadian rhythms and cognitive functions.

Association between mental health and executive dysfunction and the moderating effect of urban-rural subpopulation in general adolescents from Shangrao, China: a population-based cross-sectional study.

OBJECTIVES: To examine the association between mental health and executive dysfunction in general adolescents, and to identify whether home residence and school location would moderate that association. DESIGN: A population-based cross-sectional study. SETTING: A subsample of the Shanghai Children's Health, Education, and Lifestyle Evaluation-Adolescents project. 16 sampled schools in Shangrao city located in downstream Yangtze River in southeast China (December 2018). PARTICIPANTS: 1895 adolescents (48.8% male) which were divided into three subpopulations: (A) adolescents who have urban hukou (ie, household registration in China) and attend urban schools (UU, n=292); (B) adolescents who have rural hukou and attend urban schools (RU, n=819) and (C) adolescents who have rural hukou and attend rural schools (RR, n=784). MEASURES: The Depression Anxiety and Stress Scale-21 was used to assess adolescent mental health symptoms, and the Behaviour Rating Inventory of Executive Function (parent form) was applied to measure adolescent executive dysfunction in nature setting. RESULTS: Mental health symptoms were common (depression: 25.2%, anxiety: 53.0%, stress: 19.7%) in our sample, and the prevalence rates were lower among UU adolescents than those among the RR and RU, with intersubgroup differences in screen exposure time explaining most of the variance. We found the three types of symptoms were strongly associated with executive dysfunction in general adolescents. We also observed a marginal moderating effect of urban-rural subgroup on the associations: UU adolescents with depression (OR 6.74, 95% CI 3.75 to 12.12) and anxiety (OR 5.56, 95% CI 1.86 to 16.66) had a higher executive dysfunction risk when compared with RR youths with depression (OR 1.93, 95% CI 0.91 to 4.12) and anxiety (OR 1.80, 95% CI 1.39 to 2.33), respectively. CONCLUSIONS: Rural adolescents experienced more mental health symptoms, whereas urban individuals with mental health problems had a higher executive dysfunction risk.

Weight spectrum and executive function in adolescents: the moderating role of negative emotions.

BACKGROUND: While recent works suggested that overweight/obesity may impair executive function (EF), the overweight/obesity-EF relationship has not been well studied in adolescents. Furthermore, no research has investigated adolescent EF impairments across the weight spectrum (e.g., underweight or thinness, normal, overweight/obesity), especially those with underweight condition, with the moderating effect of negative emotions in the weight-EF association being limitedly investigated. We aimed to determine whether overall and abdominal weight spectrum associated with EF impairments and to identity whether negative emotions moderate the weight-EF link in adolescents. METHODS: We applied a subsample of the SCHEDULE-A project. Adolescents (11-18 years) were recruited using a multi-stage cluster random sampling approach. We measured the overall and abdominal weight spectrum by body mass index z-score and waist-to-height ratio, respectively. We used the Behavior Rating Inventory of Executive Function (BRIEF) to evaluate adolescent EF in nature setting, and utilized the Depression Anxiety and Stress Scales (DASS-21) to assess three types of negative emotional status (i.e., depression, anxiety, and stress). RESULTS: Of the 1935 adolescents, 963 (49.8%) were male. We observed that abdominal, not overall, overweight was associated with the Global Executive Composite (GEC) impairment (OR = 1.59, 95% CI 1.07-2.35), particularly for inhibit, emotion control, shift, working memory, and monitor domains. Furthermore, depression moderated the abdominal overweight-GEC association (P = 0.032 for interaction term), especially for emotional control, working memory, and initiate dimensions. Moreover, we also found abdominal thinness was associated with the Metacognition Index problem (OR = 1.33, 95% CI 1.04-1.72), particularly for plan and monitor areas. CONCLUSIONS: Both abdominal overweight and thinness were associated with adolescent EF, and depression would be a modifiable target to improve EF in adolescents with abdominal overweight. Future longitudinal studies are needed to investigate the causal relationship between abdominal weight spectrum and EF, as well as the underlying mechanisms among adolescents suffering from depression.

The mediating effect of DNA methylation in the association between maternal sleep during pregnancy and offspring adiposity status: a prospective cohort study.

BACKGROUND: Childhood overweight/obesity is a global public health concern. It is important to identify its early-life risk factors. Maternal poor sleep is common in late pregnancy, and previous studies indicated that poor sleep may influence the offspring's adiposity status. However, very few studies in humans investigated the effect of the different sleep parameters (sleep quantity, quality, and timing) on the offspring's adiposity indicators, and long-term studies are even more scarce. In addition, the underlying mechanism remains unclear. The present study therefore aimed to examine the association between the three maternal sleep dimensions in the late pregnancy and the offspring adiposity indicators and to explore the potential mediating effect of the cord blood DNA methylation in the above association. METHODS: Included participants in the current study were 2211 healthy pregnant women with singleton gestation from the Shanghai Birth Cohort (SBC) and Shanghai Sleep Birth Cohort (SSBC). Maternal nighttime sleep duration, quality, and midpoint (an indicator of circadian rhythm) were assessed by the same instrument in both cohorts during late pregnancy, and the offspring's body mass index (BMI) and subcutaneous fat (SF) were measured at 2 years old. Additionally, in 231 SSBC samples, the genome-wide DNA methylation levels were measured using the Illumina Infinium Methylation EPIC BeadChip. The multivariate linear regression was used to determine the associations between the maternal sleep parameters and the offspring adiposity indicators. The epigenome-wide association study was conducted to identify the maternal sleep-related CpG sites. The mediation analysis was performed to evaluate the potential intermediate role of DNA methylation in the association between maternal sleep and offspring adiposity indicators. RESULTS: The mean maternal nighttime sleep duration and the sleep midpoint for combined cohorts were 9.24 ± 1.13 h and 3.02 ± 0.82, respectively, and 24.5% of pregnant women experienced poor sleep quality in late pregnancy. After adjusting for the covariates, the maternal later sleep midpoint was associated with the increased SF in offspring (Coef. = 0.62, 95% CI 0.37-0.87, p < 0.001) at 2 years old. However, no significant associations of the nighttime sleep duration or sleep quality with the offspring adiposity indicators were found. In the SSBC sample, 45 differential methylated probes (DMPs) were associated with the maternal sleep midpoint, and then, we observed 10 and 3 DMPs that were also associated with the offspring's SF and BMI at 2 years, of which cg04351668 (MARCH9) and cg12232388 significantly mediated the relationship of sleep midpoint and SF and cg12232388 and cg12225226 mediated the sleep midpoint-BMI association, respectively. CONCLUSIONS: Maternal later sleep timing in late pregnancy was associated with higher childhood adiposity in the offspring. Cord blood DNA methylation may play a mediation role in that relationship.

Convenient Heme Nanorod Modified Electrode for Quercetin Sensing by Two Common Electrochemical Methods.

Quercetin (Qu) is one of the most abundant flavonoids in the human diet. High concentrations of Qu can easily cause adverse effects and induce inflammation, joint pain and stiffness. In this study, Heme was used as a sensitive element and deposited and formed nanorods on a glassy carbon electrode (GCE) for the detection of Qu. The Heme/GCE sensor was characterized using scanning electron microscopy (SEM), cyclic voltammetry (CV), differential pulse voltammetry (DPV) and electrochemical impedance spectroscopy (EIS) techniques. Under optimized conditions, the developed sensor presented a linear concentration ranging from 0.1 to 700 µmol·L-1 according to the CV and DPV methods. The detection limit for the sensor was 0.134 µmol·L-1 and its sensitivity was 0.12 µA·µM-1·cm-2, which were obtained from CV analysis. Through DPV analysis we obtained a detection limit of 0.063 µmol·L-1 and a sensitivity of 0.09 µA·µM-1·cm-2. Finally, this sensor was used to detect the Qu concentration in loquat leaf powder extract, with recovery between 98.55-102.89% and total R.S.D. lower than 3.70%. The constructed electrochemical sensor showed good anti-interference, repeatability and stability, indicating that it is also usable for the rapid detection of Qu in actual samples.

Multimodal MR Images-Based Diagnosis of Early Adolescent Attention-Deficit/Hyperactivity Disorder Using Multiple Kernel Learning.

Attention-deficit/hyperactivity disorder (ADHD) is one of the most common brain diseases among children. The current criteria of ADHD diagnosis mainly depend on behavior analysis, which is subjective and inconsistent, especially for children. The development of neuroimaging technologies, such as magnetic resonance imaging (MRI), drives the discovery of brain abnormalities in structure and function by analyzing multimodal neuroimages for computer-aided diagnosis of brain diseases. This paper proposes a multimodal machine learning framework that combines the Boruta based feature selection and Multiple Kernel Learning (MKL) to integrate the multimodal features of structural and functional MRIs and Diffusion Tensor Images (DTI) for the diagnosis of early adolescent ADHD. The rich and complementary information of the macrostructural features, microstructural properties, and functional connectivities are integrated at the kernel level, followed by a support vector machine classifier for discriminating ADHD from healthy children. Our experiments were conducted on the comorbidity-free ADHD subjects and covariable-matched healthy children aged 9-10 chosen from the Adolescent Brain and Cognitive Development (ABCD) study. This paper is the first work to combine structural and functional MRIs with DTI for early adolescents of the ABCD study. The results indicate that the kernel-level fusion of multimodal features achieves 0.698 of AUC (area under the receiver operating characteristic curves) and 64.3% of classification accuracy for ADHD diagnosis, showing a significant improvement over the early feature fusion and unimodal features. The abnormal functional connectivity predictors, involving default mode network, attention network, auditory network, and sensorimotor mouth network, thalamus, and cerebellum, as well as the anatomical regions in basal ganglia, are found to encode the most discriminative information, which collaborates with macrostructure and diffusion alterations to boost the performances of disorder diagnosis.

Circadian Rhythm Analysis Using Wearable Device Data: Novel Penalized Machine Learning Approach.

BACKGROUND: Wearable devices have been widely used in clinical studies to study daily activity patterns, but the analysis remains a major obstacle for researchers. OBJECTIVE: This study proposes a novel method to characterize sleep-activity rhythms using actigraphy and further use it to describe early childhood daily rhythm formation and examine its association with physical development. METHODS: We developed a machine learning-based Penalized Multiband Learning (PML) algorithm to sequentially infer dominant periodicities based on the Fast Fourier Transform (FFT) algorithm and further characterize daily rhythms. We implemented and applied the algorithm to Actiwatch data collected from a cohort of 262 healthy infants at ages 6, 12, 18, and 24 months, with 159, 101, 111, and 141 participants at each time point, respectively. Autocorrelation analysis and Fisher test in harmonic analysis with Bonferroni correction were applied for comparison with the PML. The association between activity rhythm features and early childhood motor development, assessed using the Peabody Developmental Motor Scales-Second Edition (PDMS-2), was studied through linear regression analysis. RESULTS: The PML results showed that 1-day periodicity was most dominant at 6 and 12 months, whereas one-day, one-third-day, and half-day periodicities were most dominant at 18 and 24 months. These periodicities were all significant in the Fisher test, with one-fourth-day periodicity also significant at 12 months. Autocorrelation effectively detected 1-day periodicity but not the other periodicities. At 6 months, PDMS-2 was associated with the assessment seasons. At 12 months, PDMS-2 was associated with the assessment seasons and FFT signals at one-third-day periodicity (P<.001) and half-day periodicity (P=.04), respectively. In particular, the subcategories of stationary, locomotion, and gross motor were associated with the FFT signals at one-third-day periodicity (P<.001). CONCLUSIONS: The proposed PML algorithm can effectively conduct circadian rhythm analysis using time-series wearable device data. The application of the method effectively characterized sleep-wake rhythm development and identified the association between daily rhythm formation and motor development during early childhood.

Combined effects of weight change trajectories and eating behaviors on childhood adiposity status: A birth cohort study.

Previous studies have suggested that infant rapid weight change can be associated with an increased weight later in life. However, the weight change trajectory in early life over time and which childhood lifestyle behaviors may modify the risk of rapid weight change have not been characterized. Using our ongoing birth cohort study, we have addressed these issues. Nine follow-up time points (birth, 3, 6, 9, 12, 18, 24, 36, and 48 months) were used to calculate the change between two adjacent weight-for-age z-scores (WAZ-change), and then WAZ-change trajectories were defined via group-based trajectory modeling. The solitary, independent and combined effects of WAZ-change trajectories and each lifestyle factor (eating behaviors, physical activity, media exposure time and total sleep duration) on childhood adiposity measures at age 4 years were determined using multivariate regression analysis. Overall, 84 (38%) children had a steady growth trajectory from birth to 4 years, while the other 137 (62%) children had an early infancy rapid growth trajectory, particularly in the first three months. Compared to children with steady growth, children with early infancy rapid growth had a significantly higher body mass index, waist circumference, and subcutaneous fat. Moreover, weight change trajectory and three eating behaviors (i.e. food responsiveness, satiety responsiveness and food fussiness), not only had independent effects, but also combined (synergistic) effects on the majority of adiposity measures. Our results extend the current literature and provide a potentially valuable model to aid clinicians and health professionals in designing early-life interventions targeting specific populations, specific ages and specific lifestyle behaviors to prevent childhood overweight/obesity.

Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene.

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.

Effect of maternal sleep in late pregnancy on leptin and lipid levels in umbilical cord blood.

OBJECTIVES: To study the impact of maternal sleep in late pregnancy on birth weight (BW) and leptin and lipid levels in umbilical cord blood. STUDY DESIGN: A total of 277 healthy and singleton pregnancy women were recruited for participation in the Shanghai Sleep Birth Cohort Study (SSBC) during their 36-38 weeks of pregnancy, from May 2012 to July 2013. Maternal night sleep time (NST), sleep efficiency (SE), sleep onset latency (SOL) and the percentage of wake after sleep onset (WASO) in NST and midpoint of sleep (MSF) were measured by actigraphy for seven consecutive days. The leptin and lipid levels were determined in cord blood samples collected from the umbilical vein immediately after delivery. Birth information (birth weight, gender, delivery type, etc.) was extracted from medical records. A multivariable linear regression model was applied to examine the effect of maternal sleep in late pregnancy on newborn leptin and lipid levels in umbilical cord blood. RESULTS: A total of 177 women and their infants were included in the analysis. Maternal mean NST was 7.03 ± 1.10 h in late pregnancy, and 48% had a shorter sleep time (NST < 7 h). The average maternal SE was 72.54% ± 9.66%. The mean percentage WASO/NST was 21.62% ± 9.98%; the average MSF was about 3:34 (0:53); and the SOL was 46.78 ± 36.00 min. After adjustment for confounders, both maternal NST and SE were found to be significantly associated with triglyceride levels (ß = -0.219, p = 0.006; ß = -0.224, p = 0.006) in umbilical cord blood; and maternal NST was also observed to have positive association with newborn leptin levels (ß = 0.146, p = 0.047). However, we did not find significant association between other maternal sleep parameters in late pregnancy and leptin and lipid levels and birth weight. CONCLUSIONS: Short sleep duration and poor sleep quality during late pregnancy were associated with newborn leptin and lipid levels, and efforts on improving maternal sleep during late pregnancy should be advocated for children's health.

Cohort Profile: The Shanghai Sleep Birth Cohort Study.

BACKGROUND: Sleep disturbances in women occur frequently throughout pregnancy. Previous studies have demonstrated that the increasing incidence of physiological and psychological illness is concurrent with increasing sleep deprivation and poor sleep quality in adults and children. OBJECTIVES: The Shanghai Sleep Birth Cohort Study (SSBCS) was established to examine the effect of sleep disturbances during the third trimester on emotional regulation of mothers; to assess the effect of maternal sleep during pregnancy on the growth and development of children; and to explore the influence of children's sleep characteristics on physical and social-emotional development. POPULATION: The study was conducted in the Renji Hospital in Pudong New District, Shanghai from May 2012 to July 2013. Women and their newborns who met the inclusion criteria and agreed to participate in this study were recruited to the SSBCS. METHODS: The follow-up visits for children were conducted at the age of 42 days, 3, 6, 9, 12, 18, and 24 months, and 3, 4, and 6 years. Data on demographic factors, physical examination, sleep assessment, developmental and psychiatric assessment, diet records, and biological samples were collected throughout the study. PRELIMINARY RESULTS: A total of 277 pregnant women were recruited to the study; the response rate was 64.3%. 37.9% of the pregnant women had poor sleep quality and 12.0% suffered from depression. Infant sleep patterns changed during the first year of life, but most sleep characteristics showed little variation from 6 to 12 months. CONCLUSIONS: The SSBCS is an on-going prospective cohort study with follow-up to 6 years. The detailed data on demographic factors, sleep assessment, physical examinations, neurodevelopmental and psychiatric assessment, diet records, and biological samples make this research platform an important resource for examining the potential effects of sleep characteristics on both maternal and child health.

The association between 25-hydroxyvitamin D levels and children's sleep-wake patterns: a prospective cohort study.

OBJECTIVE: To explore the association between vitamin D in cord blood or in venous blood and children's sleep-wake patterns at two years of age. METHODS: Data were from 209 children in a birth cohort, Shanghai Sleep Birth Cohort Study (SSBC). 25-Hydroxyvitamin D (25(OH)D) was assessed in cord blood and venous blood samples at two years of age by electrochemiluminescence immunoassay. Children's sleep-wake patterns were measured with the Brief Infant Sleep Questionnaire (BISQ) and Acti-Watch at two years of age. RESULTS: The prevalence of vitamin D deficiency (defined as <50 nmol/L) was 50.4% in cord blood and 28% at two years of age. The cord blood 25(OH)D level was not significantly associated with children's sleep at two years of age. Children with 25(OH)D deficiency at two years old had shorter reported and actigraphic night sleep duration (NSD) and total sleep duration (TSD) than those with normal 25(OH)D concentration. 25(OH)D level at two years old was positively associated with night and total sleep duration (ßreported-NSD = 0.6, p = 0.011; ßreported-TSD = 0.6, p = 0.029; ßactigraphic-NSD = 0.82, p = 0.003; ßactigraphic-TSD = 0.78, p = 0.006), but was not associated with daytime sleep duration. There was no significant association between 25(OH)D level with night waking duration and midpoint of sleep either measured subjectively or objectively. CONCLUSION: We found that not cord blood 25(OH)D level but two-year-old 25(OH)D level was associated with children's sleep-wake patterns at two years of age. These findings suggest more attention should be paid to the assessment of 25(OH)D levels in children with short sleep duration.

Cross-cultural disparities of subjective sleep parameters and their age-related trends over the first three years of human life: A systematic review and meta-analysis.

Changes in nighttime sleep consolidation and daytime discontinuation have been observed in early life. Yet information about societal or cultural factors remains scant for implementing sleep recommendations. We aimed to provide pooled estimates of subjective sleep duration, number of nightwakings and sleep timing; to describe their age-related trends; and to determine potential cross-cultural disparities between predominantly-Asian (PA) and predominantly-Caucasian (PC) regions during the first three years of life. We performed this review according to the PRISMA guidelines. Overall, 102 studies with 167,886 children aged 0-3 y from 26 different countries/regions were included. Compared to PC regions, PA toddlers had shorter sleep duration and more frequent nightwakings. When PC regions were further divided into Pacific Rim and Europe, differences were much more evident between PA and Pacific Rim for all nighttime sleep parameters. Trends of nighttime sleep duration and bedtime for PC regions showed rapid changes over the first 3-6 mo before stabilizing to a plateau, whereas a different change was found for PA regions. In conclusion, an apparent cross-cultural disparity of the subjective sleep parameters already exists in early childhood. Improved operationalization of sleep parameters and more objective evidence are needed to establish cultural-sensitive recommendations this early in life.

Interaction effects of FTO rs9939609 polymorphism and lifestyle factors on obesity indices in early adolescence.

BACKGROUND: The rs9939609 SNP in fat mass and obesity-associated (FTO) gene influence obesity, whose effects might be mediated by lifestyle factors. However, evidence was lacked in early adolescents. This study aimed to investigate the interactions effects of FTO rs9939609 and lifestyle factors on obesity indices in early adolescence. METHODS: The study included 1149 children aged 10-12 years. Their body mass index (BMI) and body fat percentage (BF%) were measured, and lifestyle factors were surveyed through questionnaires. The rs9939609 SNP in the FTO gene was genotyped. RESULTS: Significant associations were found between FTO rs9939609 and obesity indices after adjusting for confounding factors. An interaction effect between rs9939609 and soft drinks was observed with p=0.019 for BMI after adjustment for confounding factors. The children carrying risk allele A had a significantly higher mean BMI (mean=19.67kg/m2) than those carrying only the wild allele T (mean=17.987kg/m2) when they reported a higher intake of soft drinks (≥3 times/week), but the association was not observed among children with a lower intake of soft drinks. No significant interactions were established between appetite, weekday TV viewing, sleep, exclusive breast feeding in the first four months and FTO rs9939609 on BMI or BF%. Bioinformatics revealed that rs9939609 and its linkage disequilibrium (LD) SNPs are potentially implicated in the regulation of gene expression in blood, pancreatic and brain tissue cells. CONCLUSION: FTO rs9939609 had an obvious and independent effect on obesity-related indices in early adolescents. Soft drinks may exert a modifying effect on the relationship between FTO rs9939609 and BMI.

De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.

BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. The core WHS phenotype is defined by the association of growth delay, typical facial characteristics, intellectual disability and seizures. The WHS critical region (WHSCR) has been narrowed down and NSD2 falls within this 200 kb region. Only four patients with NSD2 variants have been documented with phenotypic features in detail. CASE PRESENTATION: Herein, we report the case of a 12-year-old boy with developmental delay. He had dysmorphic facial features including wide-spaced eyes, prominent nasal bridge continuing to forehead, abnormal teething and micrognathia. He also had mild clinodactyly of both hands. Using whole-exome sequencing, we identified a pathogenic mutation in NSD2 [c.4029_4030insAA, p.Glu1344Lysfs*49] isolated from peripheral blood DNA. Sanger confirmation of this variant revealed it as a de novo truncating variant in the family. CONCLUSION: Here, we reported a boy with de novo truncating variant in NSD2 with atypical clinical features comparing with 4p16.3 deletion related WHS. Our finding further supported the pathogenesis of truncating variants in NSD2 and delineated the possible symptom spectrum caused by these variants.

Trajectories of sleep quality from late pregnancy to 36 months postpartum and association with maternal mood disturbances: a longitudinal and prospective cohort study.

Study Objectives: To examine trajectories of poor sleep quality from late pregnancy to 36 months postpartum, baseline indicators, and association with prospective maternal mood disturbances. Methods: A cohort of 262 nonclinical women was followed at late pregnancy, 42 days, 3, 6, 9, 12, 18, 24, and 36 months postpartum. Sleep quality was measured with the Pittsburgh Sleep Quality Index at all time points, and mood disturbances were assessed at late pregnancy and 36 months postpartum. Results: The rate of poor sleep quality followed an inverted U-shaped curve. Women reporting poor sleep quality at late pregnancy held a consistently higher risk of poor sleep quality at postpartum points. Three sleep trajectories were distinguished, namely, the stable-low (29.4%), the decreasing-mild (56.5%), and the stable-high (14.1%). Poor sleep quality, depression, and anxiety at baseline were linked to trajectory groups with poorer sleep quality. Adjusting for covariates, the trajectory of the poorer sleep quality group demonstrated increased mood disturbances at 36 months postpartum. Replicating the analyses in women without baseline symptoms of depression and anxiety above clinical cutoffs obtained similar results. Conclusions: Women are vulnerable to poor sleep quality from late pregnancy to postpartum years, but follow distinct trajectories. Poor sleep quality, depression, and anxiety at late pregnancy help us to anticipate the sleep trajectories. Trajectories of poor sleep quality indicate increased mood disturbances at 36 months postpartum. A flexible suite of interventions targeting both poor sleep quality and mood disturbances should be implemented and tailored to women in the prenatal and postpartum periods.

Six-month-old infant long sleepers prefer a human face.

BACKGROUND: Sleep is known to influence socio-emotional regulation among children and preschoolers, whereas little is known about the association between sleep and social preference during infancy. METHODS: In the current study, habitual sleep of 49 infants aged around six months old were surveyed by questionnaire, and their social preference was revealed by their preferential gaze in three conditions: (1) a human face paired with an object (ie, a cup), (2) a human face paired with an animal face (ie, a dog), and (3) a dog face paired with a cup. RESULTS: In general, images with richer social information (ie, a human face and dog) attracted infants' gaze significantly more than nonsocial images (ie, cup). Infants with shorter sleep duration (ie, <13 h a day) show a significant reduction in their preference toward a human face when paired with a dog than infants with longer sleep duration. CONCLUSIONS: Our findings suggest an early positive link between sleep duration and preference towards socially rich stimuli (eg, a human face) during infancy.

[Effects of captopril on myocardial tissue energy metabolism and inflammation in rats with diabetic cardiomyopathy].

OBJECTIVE: To study the protective mechanism of captopril in diabetic cardiomyopathy by means of DNA microarray. METHODS: Rat models of diabetic cardiomyopathy were divided into test and control groups (n=5), and the rats in the test group were given oral captopril (1.5 mg/kg b.w.) for 15 weeks. DNA microarray was prepared by blotting the PCR products of 4 000 rat cDNAs onto a specially treated glass slides. The probes were prepared by labeling the mRNA from the myocardial tissue of both control and test groups with Cy3-d UTP and Cy5-d UTP separately through reverse transcription. The arrays were then hybridized against the cDNA probes and the fluorescent signals scanned. RESULTS: The expression of genes in relation to fatty acid b oxidation, mitochondrial proton-electron coupling and oxidative phosphorylation, and that of dithiolethione-inducible gene-1 were up-regulated, while the dimethylarginine dimethylaminohydrolase gene expression was obviously lowered in the test group in comparison with those of the control group. CONCLUSION: Captopril may protect the myocardial tissue through improving myocardial energy supply and depressing inflammatory reaction.