Trichohepatoenteric syndrome is an autosomal recessive genetic disease with an estimated prevalence of 1:100,000. The mutation of the disease is placed either in SKIV2L or TTC37 genes. The onset of presentation is variable, but symptoms usually start with intractable diarrhea associated with woolly hair abnormality, immune dysfunction, and sometimes hepatic abnormality. This case is of a 10-month-old girl who was born at 37 + 2 weeks due to symmetrical intrauterine growth restriction (IUGR), with a low birth weight (1320 g). It was noticed during her stay in NICU that she had excessive diarrhea on day 8. Gastroenterology suggested starting an extensively-hydrolyzed formula, but no improvement noticed. The multidisciplinary teams decided to order whole-exome sequencing analysis after excluding diarrhea causes. The analysis detected a new variant mutation (c.1297C > T) p. (Arg433Cys). To our knowledge, this is the first time detected in a homozygous state in the SKIV2L gene, as this variant mutation has not been described in any previous literature. Our case was managed mainly by total parenteral nutrition. The patient responded to the treatment appropriately.

ObjectivesCaregivers of children with cerebral palsy have a huge burden which might affect their mental health. This study aimed to determine the different factors affecting the mental health of caregivers of children with cerebral palsy and to raise awareness among healthcare providers.MethodsA cross-sectional study was conducted among caregivers of children with cerebral palsy in National Guard Health Affairs-Jeddah, Saudi Arabia, using the Depression Anxiety Stress Scale-21, which is a validated questionnaire that assesses: depression, anxiety, and stress. This questionnaire was used to assess the mental health of the caregivers. In addition, factors that reflected the child's health condition, such as visual impairment, number of emergency department visits, and number of Pediatric Intensive Care Unit admissions were also reported to investigate the impact on the caregiver's mental health.ResultsThe study sample consisted of 40 caregivers, of which 72.5% were mothers. According to the Depression Anxiety Stress Scale-21 score, 12.5% (n = 5) of the caregivers had moderate depression scores, 10% (n = 4) revealed extremely severe depression, and 10% (n = 4) showed moderate anxiety. Furthermore, 12.5% (n = 5), 15% (n = 6), and 7.5% (n = 3) of the caregivers have scored as moderate, severe, and extremely severe stress levels, respectively. Caregivers’ depression, anxiety, and stress scores were significantly (p ≤ 0.05) associated with the impact of vision of their dependent children, frequent hospital admissions, and frequent emergency department visits. Increased Pediatric Intensive Care Unit admissions in the past year were also significantly associated with higher caregiver anxiety scores.ConclusionTo the best of our knowledge, the dimension of caregivers’ stress and anxiety and their association with the children's dependency level is not well documented in our region. Caregivers of children with cerebral palsy reported having mental health challenges associated with the children's visual impairment, frequent need for acute medical care, and hospital admissions. Healthcare workers should provide early and proactive planning of medical and social support for children with cerebral palsy and their families using a family-centered approach.

Background Overweight and obesity among children are progressively turning into global issues. Numerous factors have been linked to the proliferation of pediatric obesity. However, there are still questions as to whether the corresponding proliferation in the use of technology could be linked to the increase in body mass index (BMI) among children. The aim of this study is to investigate the association between high BMI in female elementary school-age children and time spent using electronic devices. Methods This is a cross-sectional study that was conducted across three female elementary schools located in Jeddah between 2017 and 2018. All schools which are affiliated with the Ministry of National Guard in Jeddah were included. Demographic data, school performance, sleep routine, physical activity, parents' beliefs, and family demographic data were collected from the legal custodian of the children. The research group visited schools to obtain children's BMI measurements. Results The number of participants who responded to the survey was 681. The results showed that the increase in BMI was non-significantly linked with the period spent using electronic devices, the use of electronic devices before sleep, nor the kind of device used. However, there was a significant association between high BMI and one type of electronic device: the television. There was a significant association between high BMI and the denial by parents that their children were obese. Furthermore, 50% of children were obese while 92.9% of overweight children's parents did not believe that there was a problem with the weight of their children. Conclusion There is no significant association between screen time spent on electronic devices and high BMI among female elementary school-age children. However, lack of physical activity, fast food consumption, and genetic predispositions are still major contributing factors for childhood obesity and overweight. Nearly all parents of children who are overweight did not perceive their children as being overweight, which brings to the fore the subject of lack of awareness about childhood obesity among parents.