Preschoolers

The relationship between anxiety symptoms and perceived quality of life among caregivers of children with autism was verified. To assess perceived quality of life, the Short Form Healthy Survey Item was used; perception of anxiety symptoms was assessed using the Beck Anxiety Inventory. Eighty caregivers of children with autism participated, with 68.7% of caregivers being mothers. Of the total number of caregivers, 68.8% had a severe level of anxiety. Regarding perceived quality of life, they demonstrated greater impairment in limitation due to physical aspects, limitation due to emotional aspects, vitality, and pain...

Children living in rural and migrant areas in the United States disproportionately suffer from poor oral health. Additionally, there continues to be a shortage of pediatric dentists practicing in rural/migrant areas. The purpose of this formative research study was to assess whether staff, teachers and families from rural/migrant Head Start/Early Head Start (HS/EHS) programs in California were receptive to oral health online education workshops conducted by pediatric dental residents who were assisted by bilingual (English and Spanish) community oral health workers (COHWs)...

Intervention programs aimed at mitigating the effects of chronic noncommunicable disease (CNDs) focus on promoting healthy lifestyle habits (HLH), especially in the early stages of life. Because of this, different typologies of caregivers have been identified according to HLH during middle childhood and adolescence. However, the available studies have focused on aspects such as nutrition, physical activity, and rest, ignoring other HLHs that are equally important for children's well-being. Likewise, few studies address HLH during the first five years of life and how caregivers affect children's health...

First-aid practices after a domestic accident are not always known, especially in Africa. This study aimed to measure mothers' knowledge of emergency procedures and attitudes in the event of domestic accidents in children. We conducted a cross-sectional study in the Orodara health district, Kénédougou province, Burkina Faso, among mothers of children aged 0-14 years. The dependent variable was the mothers' knowledge of domestic accident first-aid practices, and the independent variables were the sociodemographic characteristics of the households and the mothers...

Doublecortin, encoded by the DCX gene, plays a crucial role in the neuronal migration process during brain development. Pathogenic variants of the DCX gene are the major causes of the "lissencephaly (LIS) spectrum", which comprehends a milder phenotype like Subcortical Band Heterotopia (SBH) in heterozygous female subjects. We performed targeted sequencing in three unrelated female cases with SBH. We identified three DCX-related variants: a novel missense (c.601A>G: p.Lys201Glu), a novel nonsense (c.210C>G: p...

In early childhood, children are extremely susceptible to the acquisition of habits and the establishment of health-promoting habits. Therefore, the patterns, routines, and rules transmitted and expected by the adults surrounding the child are of paramount importance and can correlate with the level of their health literacy. Our cross-sectional, quantitative, exploratory study aimed to examine the relationships between parental health literacy and preschool children's health-related habits, using simple, non-random sampling ( n = 598)...

This cross-sectional study investigated the level of daytime sleepiness and sleep-related behaviors in preschool children and compared their self-evaluations with the evaluations of their parents. It was conducted in Split-Dalmatian County, Croatia, among 196 preschool children aged 6-7 years seen at regular medical examinations, accompanied by their parents, using the Epworth sleepiness scale for children and parents/caregivers. Compared to their child's reports, parents tended to underestimate their child's sleepiness while sitting in a classroom at school ( p = 0...

The preschool period is considered critical for the development of motor competence, but as far as we know, no studies have investigated the association between motor competence and physical fitness in Chilean children. The aim of this study was to analyse the association between gross motor competence and physical fitness, controlling for possible confounding factors. A cross-sectional study was conducted with a sample of 144 preschool children (56.25% girls) with an average age of 5.3 years (4 to 6 years) from the Araucanía region, Chile...

A good cognitive status predicts academic, professional, and health outcomes. However, longitudinal data regarding the associations of body fatness, physical fitness, and cognition are relatively scarce and mixed. The purpose of this longitudinal study was to investigate whether body fatness, cardiorespiratory fitness (CRF), and muscular fitness (MF) in preschool are associated with cognitive skills in the first grade of school. A total of 133 South Estonian children whose age was 6-7 years were recruited from 13 kindergartens and again at 7-8 years after they had entered school...

Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting individuals worldwide and characterized by deficits in social interaction along with the presence of restricted interest and repetitive behaviors. Despite decades of behavioral research, little is known about the brain mechanisms that influence social behaviors among children with ASD. This, in part, is due to limitations of traditional imaging techniques specifically targeting pediatric populations. As a portable and scalable optical brain monitoring technology, functional near infrared spectroscopy (fNIRS) provides a measure of cerebral hemodynamics related to sensory, motor, or cognitive function...

Executive functions (EFs) are related abilities, associated with the frontal lobes functions, that allow individuals to modify behavioral patterns when they become unsatisfactory. The aim of this study was to assess EFs in children with sensorineural hearing loss (SNHL) and in children with "specific language impairment" (SLI), compared with a control group of children with normal development, to identify specific skill deficits. Three groups of preschool children aged between 2 and 6 years were assessed: 19 children with normal hearing, cognitive, and language development, 10 children with SNHL, and 20 children with SLI...

Computerized assessments and digital games have become more prevalent in childhood, necessitating a systematic investigation of the effects of gamified executive function assessments on performance and engagement. This study examined the feasibility of incorporating gamification and a machine learning algorithm that adapts task difficulty to individual children's performance into a traditional executive function task (i.e., Flanker Task) with children ages 3-5. The results demonstrated that performance on a gamified version of the Flanker Task was associated with performance on the traditional version of the task and standardized academic achievement outcomes...

CHARGE syndrome, characterized by a distinct set of clinical features, has been linked primarily to mutations in the CHD7 gene. Initially defined by specific clinical criteria, including coloboma, heart defects, choanal atresia, delayed growth, and ear anomalies, CHARGE syndrome's diagnostic spectrum has broadened since the identification of CHD7 . Variants in this gene exhibit considerable phenotypic variability, leading to the adoption of the term " CHD7 disorder" to encompass a wider range of associated symptoms...

Brugada syndrome is a rare arrhythmogenic syndrome associated mainly with pathogenic variants in the SCN5A gene. Right ventricle outflow tract fibrosis has been reported in some cases of patients diagnosed with Brugada syndrome. Pulmonary atresia with an intact ventricular septum is characterized by the lack of a functional pulmonary valve, due to the underdevelopment of the right ventricle outflow tract. We report, for the first time, a 4-year-old boy with pulmonary atresia with an intact ventricular septum who harbored a pathogenic de novo variant in SCN5A , and the ajmaline test unmasked a type-1 Brugada pattern...

When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is fundamental, including a thorough personal and familial history, along with accurate physical examination and additional investigations. Especially when the clinical picture is uncertain, it is important to remember that certain genetic conditions can cause bleeding inside the brain, which may resemble NAHI. Pediatric strokes occurring around the time of birth can also be an initial sign of undiagnosed genetic disorders...

Rett Syndrome (RTT) is a severe neurodevelopmental disorder predominately diagnosed in females and primarily caused by pathogenic variants in the X-linked gene Methyl-CpG Binding Protein 2 ( MECP2 ). Most often, the disease causing the MECP2 allele resides on the paternal X chromosome while a healthy copy is maintained on the maternal X chromosome with inactivation (XCI), resulting in mosaic expression of one allele in each cell. Preferential inactivation of the paternal X chromosome is theorized to result in reduced disease severity; however, establishing such a correlation is complicated by known MECP2 genotype effects and an age-dependent increase in severity...

Intellectual disability (ID), which affects around 2% to 3% of the population, accounts for 0.63% of the overall prevalence of neurodevelopmental disorders (NDD). ID is characterized by limitations in a person's intellectual and adaptive functioning, and is caused by pathogenic variants in more than 1000 genes. Here, we report a rare missense variant (c.350T>C; p.(Leu117Ser)) in HACE1 segregating with NDD syndrome with clinical features including ID, epilepsy, spasticity, global developmental delay, and psychomotor impairment in two siblings of a consanguineous Pakistani kindred...

Hearing loss (HL) is a common and multi-complex etiological deficit that can occur at any age and can be caused by genetic variants, aging, toxic drugs, noise, injury, viral infection, and other factors. Recently, a high incidence of genetic etiologies in congenital HL has been reported, and the usefulness of genetic testing has been widely accepted in congenital-onset or early-onset HL. In contrast, there have been few comprehensive reports on the relationship between late-onset HL and genetic causes. In this study, we performed next-generation sequencing analysis for 91 HL patients mainly consisting of late-onset HL patients...

SATB1 (MIM #602075) is a relatively new gene reported only in recent years in association with neurodevelopmental disorders characterized by variable facial dysmorphisms, global developmental delay, poor or absent speech, altered electroencephalogram (EEG), and brain abnormalities on imaging. To date about thirty variants in forty-four patients/children have been described, with a heterogeneous spectrum of clinical manifestations. In the present study, we describe a new patient affected by mild intellectual disability, speech disorder, and non-specific abnormalities on EEG and neuroimaging...

BACKGROUND: Helicobacter pylori (H. pylori) is a common bacterial infection which predominately drives upper gastrointestinal pathology. We carried out a nationwide serological survey in response to the deficiency of robust African data on H. pylori prevalence, age of acquisition, socio-geographic determinants, and impact on gastric physiology. MATERIALS AND METHODS: This was a cross-sectional study of archival plasma samples collected during the Zambia Population-based HIV impact Assessment (ZAMPHIA) 2016 survey...