Behavioral Problems Research Articles

Digital Skills’ Role in Intended and Unintended Exposure to Harmful Online Content Among European Adolescents

<p>Digital skills play a crucial role in shaping young people's online experiences, serving both as a shield against harmful content and as a gateway to accessing it. Previous studies on online harmful content have predominantly focused on general exposure, overlooking the distinction between intended and unintended exposure, i.e., whether the child deliberately sought out the content or was unexpectedly exposed to it. Moreover, existing studies did not consider the role of adolescents' digital skills in this matter. This exploratory study aims to newly examine the role of the subtypes of digital skills in intended and unintended exposure to harmful online content among children from four European countries, as well as the influence of protective and risk factors according to the Problem Behavior Theory. Using multinomial logistic regression, a sample of 3,934 children aged 12 to 17 (M = 14.4, SD = 1.3; 51% boys) from Estonia, Finland, Italy, and Poland was examined. The results show different associations with respect to the type of exposure. For instance, knowledge skills, and technical and operational skills were found to figure as risk factors for unintentional exposure to such content, but not for intentional exposure. Similarly, the protective role of the family was found in intentional exposure but not in unintentional exposure. These findings underscore the importance of raising awareness among educators and parents regarding the dual nature of digital skills. Rather than solely emphasizing their protective potential, we shall acknowledge and address the potential risks associated with certain facets of digital proficiency.</p>

Executive function is associated with behaviour problems in children and adolescents with cerebral palsy and intellectual disability

ABSTRACT Background Children and adolescents with cerebral palsy (CP) commonly have behaviour problems. The present study aimed to determine which of the most common clinical features experienced by children and adolescents with CP and intellectual disability are associated with behaviour problems. Method We investigated 11 possible associated variables including epilepsy, visual and hearing impairments, motor difficulties, communication and speech difficulties, pain, sleep disturbance, executive function (EF) deficits, type of CP, and parent stress. Thirty-eight parents or guardians of children aged 6 to 17 years with CP and intellectual disability (parent informed) completed proxy and self-report standardised questionnaires. Results EF deficits and parent stress were significantly associated with behavioural problems. Conclusion For children and adolescents with CP and intellectual disability, the present study suggests close attention should be placed on specific clinical features including EF deficits and parent stress when considering variables associated with behaviour problems.

Examining the association between maternal prenatal psychiatric disorders and behavioural problems among offspring in early childhood: population-based study.

Exposure to maternal mental illness during foetal development may lead to altered development, resulting in permanent changes in offspring functioning. To assess whether there is an association between prenatal maternal psychiatric disorders and offspring behavioural problems in early childhood, using linked health administrative data and the Australian Early Development Census from New South Wales, Australia. The sample included all mother-child pairs of children who commenced full-time school in 2009 in New South Wales, and met the inclusion criteria (N = 69 165). Univariable logistic regression analysis assessed unadjusted associations between categories of maternal prenatal psychiatric disorders with indicators of offspring behavioural problems. Multivariable logistic regression adjusted the associations of interest for psychiatric categories and a priori selected covariates. Sensitivity analyses included adjusting the final model for primary psychiatric diagnoses and assessing association of interest for effect modification by child's biological gender. Children exposed in the prenatal period to maternal psychiatric disorders had greater odds of being developmentally vulnerable in their first year of school. Children exposed to maternal anxiety disorders prenatally had the greatest odds for behavioural problems (adjusted odds ratio 1.98; 95% CI 1.43-2.69). A statistically significant interaction was found between child biological gender and prenatal hospital admissions for substance use disorders, for emotional subdomains, aggression and hyperactivity/inattention. Children exposed to prenatal maternal mental illness had greater odds for behavioural problems, independent of postnatal exposure. Those exposed to prenatal maternal anxiety were at greatest risk, highlighting the need for targeted interventions for, and support of, families with mental illness.

Dealing with Childhood Externalizing Behavior: Protocol for a Feasibility RCT of the Being a Parent Program

Concerning numbers of childhood behavior problems have been reported worldwide. Parenting interventions are considered one of the most effective early strategies to intervene with externalizing conduct. This protocol outlines a feasibility RCT that aims to implement a parenting intervention in Portugal and (a) test key feasibility parameters, (b) assess the fidelity and acceptability of the program, and (c) explore its effectiveness in childhood behavior problems, parenting skills, parental concern, and parental sense of competence. A double-blinded, two-arm feasibility RCT is described. The participants are the primary caregivers of children between the ages of two and eleven years old that identify difficulties in managing their child’s behavior. Families will be randomly assigned to an intervention arm and a waitlist control arm. Parents in the intervention arm will participate in the Being a Parent program (Portuguese version: Ser Pai & Ser Mãe), an eight-week group intervention. Outcomes will be assessed using quantitative and qualitative measures throughout three assessment periods (pre- and post-intervention, and follow-up). This study marks the first feasibility RCT of the Being a Parent program outside the UK. The findings will provide information on the global strength of this program. Challenges and clinical implications are also discussed.

The central control of energy metabolism; hypothalamic obesity is not one disease.

Background The hypothalamus, a neuro-endocrine gland located centrally in the brain, weighs only on average 4 grams but is the captain on the ship of our energy balance. In the hypothalamus, signals of the satiety and hunger hormones are integrated and individuals with a dysfunctional hypothalamus develop obesity. The hypothalamus, however, integrates much more than the satiety and hunger hormones and hypothalamic obesity may be the result of a combination of factors. Summary The consequences of hypothalamic dysfunction can be categorized in six different domains. By systematically evaluating each domain, the underlying cause for obesity may be better understood and doors for successful management can be opened. The different domains are; pituitary gland dysfunction, behavioral problems, disturbance of the circadian rhythm, hyperphagia, low resting energy expenditure and temperature dysregulation. All of these domains may contribute to the development of obesity and may be more or less present in the individual patient. Key Messages Hypothalamic obesity is not one disease, but different underlying contributing factors may be present. Consequently, hypothalamic obesity management is not one-size-fits-all but needs to be personalized. In this paper, the current state of the art for both the diagnostics and approach of acquired hypothalamic obesity is reviewed.

Heat Exposure Predicts Earlier Childhood Pubertal Initiation, Behavioral Problems, and Tobacco Use

Heat Exposure Predicts Earlier Childhood Pubertal Initiation, Behavioral Problems, and Tobacco Use

Emotional and Behavioural Adjustment in Children and Adolescents with Short Stature vs. Their Normal-Statured Peers

Background/Objectives: the aim of the current cross-sectional study is to explore and compare the emotional and behavioural conditions of children and adolescents with short stature (i.e., familial short stature and constitutional delay of growth), idiopathic growth hormone deficiency (GHD), and normal height. Methods: Twenty-nine participants (15 males, 14 females; mean age ± standard deviation (SD) = 11.2 ± 1.96 years) with short stature (height standard deviation score (SDS): −2.10 ± 0.57), 10 age-matched participants (4 males, 6 females; mean age ± SD = 10.9 ± 2.35 years) with growth hormone deficiency (GHD; height SDS: −2.44 ± 0.29), and 36 age-matched participants (19 males, 17 females; mean age ± SD = 11.3 ± 1.93 years) with normal stature (height SDS: 0.56 ± 0.78) were admitted to this study. Psychological distress was evaluated using the Depression Anxiety and Stress Scale (DASS-21), and emotional and behavioural problems using the Child Behaviour Checklist for Children (CBCL) and the Strengths and Difficulties Questionnaire (SDQ). Results: Participants with GHD exhibited higher levels of the “withdrawn/depressed subscale” score of CBCL (H = 7.794, df = 2, p = 0.020), compared to their peers with normal height, while no significant differences were observed between participants with short stature and those with normal stature. Normal-statured participants reported higher levels of the “conduct problems” subscale score (H = 10.421, df = 2, p = 0.005) and the “rule-breaking behaviour” subscale score of CBCL (H = 10.358, df = 2, p = 0.006) compared to both short-statured groups. No significant differences among the three subgroups were found in the DASS-21 and SDQ scores questionnaires, suggesting the lack of short stature-dependent effects on psychological distress and emotional and behavioural adjustment. Conclusions: Although participants with GHD exhibited higher levels of the “withdrawn/depressed subscale” score of CBCL (H = 7.794, df = 2, p = 0.020) compared to their peers with normal height, participants with short stature did not experience the same problems. Although short-statured participants had lower levels of “conduct problems” and “rule-breaking behaviours” scores than their normal-statured peers, the psychological distress and emotional and behavioural adjustment were not affected by short stature, being comparable to those recorded in normal-statured participants.

Chinese parents' education anxiety, parenting, and problem behaviors in preschool children: Child competence as moderator

Chinese parents' education anxiety, parenting, and problem behaviors in preschool children: Child competence as moderator

Self-control and problematic short-form video usage: the mediating roles of automaticity and value-driven attention

ABSTRACT An increasing body of studies have revealed a correlation between self-control and problematic short-form video usage. However, the cognitive mechanism underlying this relationship remains unclear. This study aims to investigate the mediating roles of automaticity and value-driven attention between self-control and problematic short-form video usage. Meanwhile, the scale of problematic short-form video usage test (PSVUT) was developed while the Chinese version of Value-Driven Attention Questionnaire (VDAQ) was verified. Drawing upon 561 valid survey responses from Chinese respondents, the findings show that PSVUT and VDAQ used in this study have good validity and reliability. Furthermore, a serial mediation modelling revealed that automaticity and value-driven attention fully mediates the relationship between self-control and problematic short-form video usage. Individuals with lower self-control tend to exhibit automatic responses, and hence selectively attend towards valuable stimuli. These processes ultimately lead to problematic short-form video usage. This study contributes to the literature by empirically verifying the I-PACE theoretical model and providing significant implications for preventing problematic online use behaviours.

Sugar-sweetened beverages, relative grip strength, and psychological symptoms among rural adolescents in western China: a cross-sectional study

BackgroundThe increasing prevalence of psychological symptoms in adolescents has become an important problem faced by all countries in the world. The increased sugar-sweetened beverages (SSB) consumption and the decreased muscle strength had a serious negative impact on adolescent health. However, previous studies have mainly focused on adolescents in developed countries and fewer studies have been conducted in developing countries, especially in rural areas of western China. This study aims to explore the association of sugar-sweetened beverages consumption, and relative grip strength with psychological symptoms among rural adolescents in western China.MethodsIn this study, 11,018 adolescents aged 13–18 years from rural areas of Xinjiang and Tibet in western China were recruited using stratified randomized whole-cluster sampling in 2023. The participants were assessed for sugar-sweetened beverages consumption, relative grip strength, and psychological symptoms. Non-parametric tests, t-tests, logistic regression analyses, and ordered logistic regression analyses of generalized linear models were used to analyze the associations of sugar-sweetened beverage consumption and relative grip strength with psychological symptoms in adolescents.ResultsThe proportions of adolescents with sugar-sweetened beverages consumption of <1 times/week, 2–4 times/week, and >4 times/week in rural areas of western China were 34.6, 52.7, and 12.7%, respectively. The prevalence of adolescents’ emotional problems, behavioral problems, social adjustment difficulties, and psychological symptoms were 28.7, 27.0, 20.2, and 22.1%, respectively. The mean and standard deviation of grip strength among adolescents was assessed as (32.52 ± 10.13) kg and the relative grip strength was (0.60 ± 0.16) in rural areas of western China. Taking participants with sugar-sweetened beverages consumption <1 times/week group and relative grip strength at the fourth quartile as the reference, participants with SSB consumption >4 times/week and relative grip strength at the first quartile had the highest risk (OR = 2.77, 95% CI: 2.09–3.67, p < 0.001) of psychological symptoms.ConclusionElevated sugar-sweetened beverages consumption and decreased relative grip strength were associated with an increased prevalence of psychological symptoms. Prospective cohort studies are needed in the future to explore the causal relationships among SSB consumption, muscle strength, and psychological symptoms.

Parent-focused online video intervention for promoting parenting sense of competence: a randomized controlled trial.

Apart from child behavioral problems which were ameliorated by increasing parenting skills, parental well-being is one of the important components for development of parenting sense of competence (PSOC), which subsequently affects parenting style and child outcomes. This randomized controlled trial study aims to determine whether a brief asynchronous parent-focused online video intervention (POVI) that was easily accessible would be effective in increasing PSOC and parental well-being. One hundred and twenty parents, with a poor Thai Mental Health Indicators-15 score or mild-moderate depression/anxiety, of children aged 3-10 years, were randomized into two parallel groups, intervention and control groups (1:1). The intervention group received six online, weekly, parent-focused sessions. Parent and child outcomes were measured at baseline, 6, and 10 weeks. The Generalized Estimating Equations model was used for the analysis. At 10 weeks, the intervention group reported a higher PSOC (p = 0.005), particularly on the parenting satisfaction subscale, and mental health indicator. Both groups experienced reduced depression and anxiety from baseline, and child behaviors remained unchanged. POVI improved PSOC and parental well-being among parents with mild to moderate mental health problems. POVI may be used as a primary tool to promote parental well-being in general pediatric practice. This study demonstrates the efficacy of a parent-focused online video intervention (POVI) in enhancing parenting sense of competence and parental well-being. It addresses the gap in interventions that focus primarily on parental well-being, particularly for those who face mild to moderate mental health challenges. The findings contribute valuable insights for healthcare professionals, highlighting the potential of POVI, an easy-to-access and less time-consuming intervention, as a primary tool to promote parental well-being in general pediatric practice settings.

Peer rejection and internet gaming disorder: the mediating role of relative deprivation and the moderating role of grit

BackgroundInternet Gaming Disorder (IGD) is a new behavioral addiction. A large number of empirical studies have shown that Internet Gaming Disorder has a high level of comorbidity with other diseases, including depression, anxiety, obesity, internalizing and externalizing behavioral problems, however, little is known about the mediating and moderating mechanisms underlying this relation. The current study adopted a three-time longitudinal study investing the mediating effect of relative deprivation on the association between peer rejection and IGD, and whether this mediating effect was moderated by the grit.MethodsA total of 1,065 students in China anonymously completed three-time longitudinal study questionnaires. The average age was 10.19 years (SD = 0.75) and the interval between measurements was 6 months.PROCESS for SPSS proposed by Hayes was used to test a moderated mediation model, with gender, age as covariates.ResultsT1 peer rejection positively predicted T3 Internet Gaming Disorder. Relative deprivation at T2 plays a complete mediating role between peer rejection at T1 and Internet gaming disorder at T3. At the same time, it was found that the personality trait of T3 grit plays a moderating role in the relationship between T2 relative deprivation and T3 Internet gaming disorder. This suggests that peer rejection is an important predictor of Internet Gaming Disorder, and that individuals with high levels of grit are less likely to become addicted to Internet games even if they experience relative deprivation.LimitationsMeasures of study variables were self-reported. Affected by factors such as social desirability, the research results may be biased.ConclusionThese findings emphasize relative deprivation as a potential mechanism linking peer rejection IGD. Grit was an important protective factor to weaken this indirect effect. Intervention programs aimed at reducing IGD may benefit from the current research.

An Analysis of the Impact of Digital Therapeutic Interventions on Attention and Working Memory in Children with Attention-Deficit/Hyperactivity Disorder: A Randomized Controlled Trial

Previous research has investigated non-pharmacological digital therapeutic interventions to improve compliance and reduce side effects in attention-deficit/hyperactivity disorder (ADHD) medication treatments for children. This study focuses on validating the effects of game-based intervention content for enhancing working memory and concentration. It tracks quantitative changes to evaluate improvements in concentration and working memory when digital game-based content is used as adjunct therapy alongside medication for children with ADHD. Thirty children participated; one group received digital therapeutic intervention based on game content alongside medication (experimental) and the other group received conventional treatments (control). The study results show that children with ADHD in the experimental group, who use digital game-based content, exhibit a reduction of 8.13 ± 6.71 points in the K-ARS total score at the fourth week compared to baseline, while the control group shows a reduction of 7.14 ± 8.73 points. Inattention decreases by 36.84% in the experimental group and 28.56% in the control group, while hyperactivity–impulsivity decreases by 50.71% in the experimental group and 34.00% in the control group. All the results are analyzed using a paired t-test between baseline and the fourth week. Significant decreases in the K-CBCL total problem behavior score and internalizing and externalizing behaviors are consistently observed at 28 days compared with baseline. The FAIR attention–concentration test results show significant differences between the experimental and control groups in the Q-percentile and Q-standard scores, with repeated measures ANOVA results showing p = 0.006 and p = 0.007, respectively. Digital content was shown to influence digital therapeutic intervention—a non-pharmacological treatment for ADHD.

Development and Validation of Child Observation Checklist for Early Screening of Young Children with Special Needs

Background: Families with young children with developmental disabilities often express concerns about delays in the identification of these and extended waiting times for obtaining assessments, learning support, and rehabilitation services. The identification process must and can be enhanced if preschool teachers have instrumental measures to detect early-stage developmental disabilities and adjustment difficulties in preschool children and, if necessary, to provide these children with prompt and effective support services. Aims: The aim with this study was to develop and validate a screening checklist for teachers to detect developmental delays and adjustment difficulties in Chinese preschool children in Hong Kong. Methods: The participants included 1085 children aged two to six years (including 365 children who were receiving rehabilitation services at the time of the study) and their preschool teachers. The teachers were requested to complete the screening checklist and the Strengths and Difficulties Questionnaire. Results: The results of the Rasch and Confirmatory Factor Analyses supported the unidimensionality of the checklist, with the validated version consisting of fifteen items and five factors. The checklist score was negatively correlated with children’s behavioral problems and effectively differentiated children of different ages and between children receiving and not receiving rehabilitation services. The reliability estimates (internal consistency and test–retest) of this revised checklist were above 0.70. Conclusions: The 15-item checklist is a promising screening instrument for the identification of developmental disabilities and adjustment problems among Chinese preschool children. The use of the checklist has accelerated access to rehabilitation services for children and family caregivers.

Supervised and Unsupervised Screen Time and Its Association With Physical, Mental, and Social Health of School-Going Children in Dhaka, Bangladesh: Cross-Sectional Study.

Children's screen time has substantially increased worldwide, including in Bangladesh, especially since the pandemic, which is raising concern about its potential adverse effects on their physical, mental, and social health. Parental supervision may play a crucial role in mitigating these negative impacts. However, there is a lack of empirical evidence assessing the relationship between parental screen time supervision and health outcomes among school children in Dhaka, Bangladesh. We aimed to explore the association between supervised and unsupervised screen time on the physical, mental, and social health of school-going children in Dhaka, Bangladesh. We conducted a cross-sectional descriptive study between July 2022 and June 2024. A total of 420 children, aged 6-14 years, were enrolled via the stratified random sampling method across three English medium and three Bangla medium schools in Dhaka. Data were collected through a semistructured questionnaire; anthropometry measurements; and the Bangla-validated Strength and Difficulties Questionnaire (SDQ), Pittsburgh Sleep Quality Index (PSQI) Scale, and Spencer Children Anxiety Scale (SCAS). A total of 234 out of 420 students (56%) used digital screen devices without parental supervision. We did not find a substantial difference in the duration of the daily mean use of digital devices among the supervised students (4.5 hours, SD 2.2 hours) and the unsupervised students (4.6 hours, SD 2.4 hours). According to the type of school, English medium school children had a mean higher screen time (5.46 hours, SD 2.32 hours) compared to Bangla medium school children (3.67 hours, SD 2.00 hours). Headache was significantly higher among the unsupervised digital screen users compared to those who used digital screens with parental supervision (175/336 students, 52.1% versus 161/336 students, 47.9%; P<.003). Moreover, students who used digital screens without parental supervision had poor quality of sleep. Behavioral problems such as conduct issues (119/420 students, 28.3%) and peer difficulties (121/420 students, 28.8%) were observed among the participants. However, when comparing supervised and unsupervised students, we found no statistically significant differences in the prevalence of these issues. The findings of the study showed that the lack of screen time supervision is associated with negative health effects in children. The roles of various stakeholders, including schools, parents, policy makers, and students themselves, are crucial in developing effective guidelines for managing screen use among students. Further research is needed to demonstrate causal mechanisms; identify the best interventions; and determine the role of mediators and moderators in households, surroundings, and schools.

Situational Factors Impacting Harmful Behavior Towards Others Related to Mental Health in the Community and Their Associations: A Scoping Review Based on Systematic Reviews

Background/Objectives: This study aimed to identify factors associated with harmful behavior toward others based on existing research. Methods: This scoping review focused on individuals at risk of harming others due to mental health issues, with the target population encompassing three settings: the community, inpatient facilities with frequent admissions and discharges, and healthcare settings where medical treatment is sought. A scoping review was conducted according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews. The terms violence, aggression, problem behavior, and workplace violence were used to search for related literature, subsequently selecting systematic reviews. Results: A total of 24 papers were ultimately included. From the included papers, background factors (demographic, personal history, and clinical aspects); situational factors (social connection status, daily life status); psychological factors; antecedents of harmful behavior; and triggers of harmful behavior were extracted as factors associated with harmful behavior. Conclusions: Our results indicate that background and situational factors lead to harmful behavior toward others, disruptions in the harmony between these factors cause disturbances in psychological processes, and harmful behavior toward others is triggered by stimuli that promote such behavior. Considering that all studies reviewed herein involved inpatients and forensic patients in medical settings, further research is required to identify the factors associated with harmful behaviors occurring in the community.

The impact of parental phubbing on social withdrawal in preschool children: the serial mediating roles of parent–child conflict and negative emotions

BackgroundThe positive association of parental phubbing with internalizing and externalizing problems among adolescents has gained academic traction. However, current researches on the negative impacts of parental phubbing have focused primarily on adolescents, with a noticeable lack of studies concerning preschool children, and there is also a deficiency in investigations from the perspective of the Risky Family Model. These gaps limit our understanding of how parental phubbing affects problem behaviors among preschool children. To address this gap, the present study constructed a chain mediation model to examine the association between parental phubbing and social withdrawal in preschool children, by introducing two mediating variables—parent–child conflict and negative emotions.MethodsA sample of 739 preschool children (mean age 5.04 years, SD = 0.84) and their parents participated in the study. The parents completed measures of the Parental Phubbing Scale, Child–Parent Relationship Scale, Children’s Behavior Questionnaire, and Child Social Preference Scale. The Cronbach’s alpha coefficient of the four scales were 0.75, 0.84, 0.74, and 0.83, respectively. All the measures showed good reliability and validity in the present study. The data were analyzed via SPSS 26.0 and SPSS PROCESS.ResultsThe results indicated that (1) parental phubbing had a significant positive effect on social withdrawal in young children; (2) parent–child conflict and negative emotions independently mediated the relationship between parental phubbing and social withdrawal in young children; and (3) parent–child conflict and negative emotions served as serial mediators in the relationship between parental phubbing and social withdrawal in young children.ConclusionsThese findings in the present study contribute to understanding the mechanisms underlying the association between parental phubbing and social withdrawal and have important implications for interventions aimed at improving social withdrawal among preschool children in China. Furthermore, the present study first introduced parental phubbing into the Risky Family Model, expanding the applicability of this model.

PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.

Protein-activated kinases mediate spine morphogenesis and synaptic plasticity. PAK3 is part of the p21-activated kinases (PAKs) family of Ras-signaling serine/threonine kinases. Pathogenic variants in the X-linked gene PAK3 have been described in patients with neurodevelopmental syndromes. We analyzed an Italian family with sleep-related hypermotor epilepsy, intellectual disability, psychiatric and behavioral problems, and dysmorphic facial features. A novel PAK3 c.342_344del (p.Lys114del) inframe deletion was detected in the family. Protein structure analysis supported deleterious impact of p.Lys114 deletion through loss or partial loss of autoinhibition of PAK3 protein kinase activity. The male proband had drug-resistant hypermotor seizures and moderate intellectual disability. His brother had drug-responsive hypermotor seizures and mild intellectual disability. Both brothers were hemizygous and had psychiatric and behavioral problems as well as dysmorphic facial features. Their mother had never had seizures but was shown to be mosaic for the PAK3 pathogenic variant. She had normal intellect but did have short stature and dysmorphic facial features similar to her sons. This is the first reported association of a PAK3 pathogenic variant with sleep-related hypermotor epilepsy. PAK3 testing should be considered in families with suspected X-linked sleep-related hypermotor epilepsy and intellectual disability, including for mosaicism in mildly affected females. PLAIN LANGUAGE SUMMARY: We studied an Italian family with sleep-related hypermotor epilepsy, intellectual disability, psychiatric and behavioral problems, and dysmorphic facial features. A novel PAK3 c.342_344del (p.Lys114del) inframe deletion was detected in the family. Protein structure analysis supported deleterious impact of p.Lys114 deletion through loss or partial loss of autoinhibition of PAK3 protein kinase activity. This is the first reported association of a PAK3 pathogenic variant with sleep-related hypermotor epilepsy. PAK3 testing should be considered in families with suspected X-linked sleep-related hypermotor epilepsy and intellectual disability, including for mosaicism in mildly affected females.

Examining the Prevalence, Characteristics, and Potential Links Between Skin Disorders and Autism Spectrum Disorder (ASD)

Background: Increasing evidence indicates that skin disorders may contribute to an increased risk of autism spectrum disorder (ASD). They can affect the quality of life, and they have an impact on social isolation, behavioral problems, cognitive scores, and some subscales of ASD. Methods: This study was an online questionnaire-based, observational, and cross-sectional study conducted during the period from August 2022 through January 2023 to examine dermatological manifestations among ASD individuals compared to controls. Descriptive and non-parametric tests were used for data analysis. Results: A total of 363 individuals with skin diseases were interviewed during the study period. In total, 189 (52.1%) of participants were autistic and 174 (47.9%) were controls. Asthma, anxiety, depression, and autoimmune disease were persistent in the ASD group compared to the controls (p &lt; 0.001). The results also show that skin, food, and respiratory allergies were statistically significantly associated with ASD (50%, 22.2%, 14.8%, respectively) compared to the controls (26.4%, 10.3%, 7.5%, respectively) (p &lt; 0.05). The most prevalent disease in the controls was eczema (15.5%), followed by dry skin (14.9%) and acne (10.3%). These diseases showed a statistically significant association with ASD compared to the controls (p &lt; 0.0001). Conclusions: Our findings indicate that atopic disorders and comorbidities, including eczema, asthma, and allergies, are significantly associated with ASD. A large population-based study is warranted to clarify the prevalence of skin disorders among individuals with ASD, coupled with the study of the association between skin disorders and comorbidities to determine the relationship precisely.

A Case-Control Study of the Association Between GSTP1 Gene Polymorphisms (rs1695 and rs1138272) and the Susceptibility to Male Infertility in the Moroccan Population.

Background: Infertility affects 10-15% of couples worldwide, with male factors accounting for half of cases. Environmental, behavioral, and genetic problems contribute to spermatogenic failure in 30% of idiopathic male infertility cases. Other factors, such as oxidative stress (OS), cause impaired spermatogenesis, abnormal sperm morphology, and reduced motility, eventually triggering male infertility. In the male reproductive tract, glutathione S-transferase (GST) family antioxidants are essential for preventing OS, detoxification, and DNA damage protection. Methods: GSTP1 isoenzyme, one of GST members, has previously been linked to male infertility, and this case-control study is the first to assess the possible association of GSTP1 gene polymorphisms (rs1695 and rs1138272) with nonobstructive azoospermia and severe oligospermia within 300 patients and 300 controls from the Moroccan population using an allele-specific PCR. The statistical analysis was performed with the R programming language. Results: Genotyping of GSTP1 polymorphisms fitted the Hardy-Weinberg equilibrium in both cases and controls (p > 0.05), but no significant association was found in rs1695 (odds ratio [OR] = 1.238, 95% confidence interval [CI] = 0.855 to 1.794, p = 0.258, power = 0.204) and in rs1138272 (OR = 1.192, 95% CI = 0.852 to 0.1668, p = 0.304, power = 0.176). Likewise, results from haplotype analysis (OR = 1.25, 95% CI = 0.61 to 2.57, p = 0.537) and SNP-SNP interactions (OR = 1.522, 95% CI = 0.838 to 2.762, p = 0.166) demonstrated no correlation with the risk of male infertility. Conclusion: The two SNPs (rs1695 and rs1138272) of the GSTP1 gene loci are not associated with male infertility susceptibility in Moroccan subjects. Yet, future investigations with a larger sample size may conclusively help to confirm this association.