Sleep patern

BACKGROUND: Brugada syndrome (BrS) is a channelopathy that can lead to sudden cardiac death in the absence of structural heart disease. Patients with BrS can be asymptomatic or present with symptoms secondary to polymorphic ventricular tachycardia or ventricular fibrillation. Even though BrS can exhibit autosomal dominant inheritance, it is not easy to identify the phenotype and genotype in a family thoroughly. CASE: We report the case of a 20-year-old man with variants in SCN5A and RyR2 genes who was resuscitated from sudden cardiac death during sleep due to a ventricular fibrillation...

BACKGROUND: Adhering to 24-h movement guidelines (24-hMG) have health benefits for young children; yet research on Malaysian preschoolers' movement behaviors is limited. This study investigates the association between adherence to 24-hMG and sociodemographic factors of Malaysian preschoolers. METHODS: Data from 939 preschoolers aged 3-6 years (mean age = 4.83 ± 0.04 years, 53.7% boys) from the Second South East Asian Nutrition Surveys (SEANUTS II) Malaysia study was analyzed...

BACKGROUND: Paired-like Homeobox 2B (PHOX2B) is considered the causative gene of Congenital Central Hypoventilation Syndrome (CCHS), a dominant genetic disorder characterized by impaired central respiratory control and subsequent hypoventilation during sleep. METHODS: Herein, we present a family with recurrent severe CCHS. The potential causative genetic variant was confirmed through Whole-Exome Sequencing (WES), Sanger sequencing, and droplet digital PCR (ddPCR)...

OBJECTIVE: We investigated maternal and paternal sleep evolution from 3 to 36 months postpartum, their interrelations and predictors in the SEPAGES cohort. METHODS: Sleep information (night sleep duration [NSD], weekend daytime sleep duration [DSD] and subjective sleep loss [SSL]) was collected by self-administered questionnaires at 3, 18, 24 and 36 months postpartum in the SEPAGES French cohort that included 484 mothers and 410 fathers. Group-based multi-trajectory modelling was used to identify maternal, paternal and couple sleep multi-trajectory groups among 188 couples reporting sleep data for at least 2 time points...

STUDY OBJECTIVES: Supportive co-parenting between couples has been shown to have positive effects on the dyadic relationship, child development, and parental and child sleep. This study aimed to investigate the association between paternal involvement in nighttime childcare and child and maternal sleep, while exploring relationship satisfaction, and maternal competence about child sleep as mediators. METHODS: The sample consisted of 290 mothers ( Mage ± SD =34...

BACKGROUND: DM1 is a multisystem disorder caused by expansion of a CTG triplet repeat in the 3' non-coding region of DMPK. Neuropsychological consequences and sleep abnormalities are important associations in DM1. OBJECTIVE: To describe the clinical phenotype, disease progression and characterize the sleep alterations and cognitive abnormalities in a sub-set of patients. MATERIALS AND METHODS: A retrospective study on 120 genetically confirmed DM1 cases...

BACKGROUND: Globally, acute malnutrition threatens the lives of several million children under 5 years of age. Malnutrition affects the social, economic, and medical aspects of all countries. In Ethiopia, acute malnutrition is not decreasing at the intended rate for unclear reasons. OBJECTIVE: This study aimed to assess the burden of acute malnutrition and its associated factors among children under 5 years of age in a rural setting of southern Ethiopia. METHODS: A community-based cross-sectional study was conducted from January to March 2022...

OBJECTIVE: To estimate the proportion of healthy under-fives whose physical activity, sedentary behavior, sleep and screen time adhered to WHO 2019 recommendations and to identify risk factors for non-adherence. METHODS: A cross-sectional study was conducted among 480 healthy children (6 mo - 4 years) who attended 20 selected urban anganwadis or immunization clinics in South Kerala, India. Sociodemographic, anthropometric and outcome variables (duration of physical activity, sedentary behavior, sleep and screen time) were collected for all participants...

PURPOSE: This longitudinal data analysis examined the bidirectional relationships between sleep problems and suicidal thought (ST)/attempt (SA) in a large sample of Chinse adolescents. METHODS: A total of 6995 adolescents (mean age = 14.86 years and 51.4 % males) participated in a 3-wave longitudinal study of behavior and health in Shandong, China. A self-administered questionnaire and standardized scales were used to assess ST, SA, sleep duration, insomnia, daytime sleepiness, and behavioral/emotional problems in 2015 (T1), 1 year later (T2), and 2 years later (T3)...

BACKGROUND: Preventing overweight and obesity in early childhood is a priority for healthcare systems worldwide due to the harmful effects on health and economy over the medium and long term. OBJECTIVE: The aim of this study is therefore the identification of the determinants predictive of overweight and obesity during the first 24 months of a child's life. MATERIAL AND METHODS: From May 2021 to January 2022, 1012 mother-child pairs were included in this study and were interviewed at urban and rural health centers in the Skhirat-Temara in Morocco prefecture using a questionnaire...

BACKGROUND: Previous studies have reported associations of specific maternal and paternal lifestyle factors with offspring's cognitive development during early childhood. This study aimed to investigate the prospective associations between overall parental lifestyle and offspring's cognitive performance during adolescence and young adulthood in China. METHODS: We included 2531 adolescents aged 10-15 years at baseline in 2010 from the China Family Panel Studies. A healthy parental lifestyle score (ranged 0-5) was constructed based on the following five modifiable lifestyle factors: Smoking, drinking, exercise, sleep, and diet...

The narrative review was planned to qualitatively analyse the experiences, factors and context of parents screening positive for perinatal depression in Karachi. Semi structured in-depth interviews were conducted to explore the experiences and perceptions of participants during pregnancy, birth and 10-12 weeks after birth. Seven men and 20 women participated in the in-depth interviews. Factors in the perinatal period that affected new parents included sleep disturbances, emotional stressors linked to preference for a male child, a lack of social support, financial burdens of perinatal care, personal frustrations caused by an inability to comprehend the signs and symptoms of perinatal depression, denial to admit challenging issues concerning mental health and social disapproval with expressing mental health issues...

INTRODUCTION: Macroglossia is a cardinal feature of Beckwith-Wiedemann syndrome (BWS) with a clinical spectrum where the indication and timing for surgery remain to be validated. This study leverages a cohort of molecularly characterized patients with BWS to correlate epigenetic diagnosis with phenotype and treatment outcome. METHODS: Patients with BWS seen in consultation for macroglossia from 2009-2022 were reviewed for phenotype, molecular diagnosis, tongue reduction status, timing of surgery (early = under 12 months), and perioperative complications...

BACKGROUND: Many countries are experiencing an increasing prevalence of childhood obesity and this needs to be carefully addressed. AIMS: To determine the prevalence of overweight and obesity and the sociodemographic factors and lifestyle risk behaviours associated with obesity among in-school children in Al Buraimi Governorate, Oman. METHODS: We conducted a cross-sectional study among 714 male and female in-school children aged 6-17 years in 14 government schools in Al Buraimi Governorate, Oman, from April to July 2019...

Angelman Syndrome (AS) is a rare genetic disorder caused by lack of maternal UBE3A protein due to a deletion of the chromosome 15q11.2-q13 region, uniparental paternal disomy, imprinting center defect, or pathogenic variant in the UBE3A gene. Characteristics are developmental delay, epilepsy, behavioral, and sleep problems. There is some evidence for hyperphagia, shorter stature, and higher BMI compared to neurotypical children, but longitudinal studies on growth are lacking. In this study, we analyzed prospectively collected data of 145 children with AS, who visited the ENCORE Expertise Center between 2010 and 2021, with a total of 853 visits...

Paternal postpartum depression (PD) is considered an affective disorder that affects fathers during the months following childbirth. Interestingly, it has been observed that during these months the chances of a male parent suffering from depression are double that for a non-parent male counterpart. We present the case of a 34-year-old man with no relevant medical history in who, overlapping her daughter's birth, several depressive symptoms emerged, such as fatigue, lack of concentration, sleeping disturbances and abandonment of care of the newborn...

While parental behaviors during the 'first thousand days' are critical for child health, little is known about fathers during this time. We examined prenatal patterns of health behaviors, social-emotional wellbeing, and infant care intentions among expectant fathers, both overall and compared to expectant mothers. Among 227 mother-father dyads enrolling in a randomized controlled trial of a perinatal obesity prevention program in Boston, Massachusetts (July 2020-July 2022), participants independently completed baseline surveys addressing (1) health behaviors, (2) social emotional wellbeing, and (3) infant care intentions...

The hypothalamus regulates fundamental aspects of physiological homeostasis and behavior, including stress response, reproduction, growth, sleep, and feeding, several of which are affected in patients with Prader-Willi (PWS) and Schaaf-Yang syndrome (SYS). PWS is caused by paternal deletion, maternal uniparental disomy, or imprinting defects that lead to loss of expression of a maternally imprinted region of chromosome 15 encompassing non-coding RNAs and five protein-coding genes; SYS patients have a mutation in one of them, MAGEL2 ...

BACKGROUND: Apert syndrome is predominantly caused by 2 paternally inherited gain-of-function mutations in the FGFR2 gene, Pro253Arg, and Ser252Trp. Studies comparing phenotypic features between these 2 mutations have established differences in syndactyly severity and incidence of cleft palate. Obstructive sleep apnea can be debilitating in a subset of patients with Apert syndrome, yet is not well understood. This study aims to determine whether FGFR2 mutations impart differential effects on airway physiology and morphology...

BACKGROUND: Injuries are the leading cause of death and disability in preschool children who are subject to specific risk factors. We sought to clarify the determinants of unintentional injuries in children aged 5 years and under in high-income countries and report on the methodological quality of the selected studies. METHODS: A systematic review was conducted of observational studies investigating determinants of unintentional injury in children aged 0-5...