Hyperekplexia: A Single-Center Experience.

BACKGROUND: Hyperekplexia is a rare neurogenetic disorder that is classically characterized by an exaggerated startle response to sudden unexpected stimuli. This study aimed to determine clinical and genetic characteristics of our patients with hyperekplexia. METHODS: The age of onset and diagnosis, familial and perinatal history, clinical course, complications, metabolic screening tests, magnetic resonance imaging (MRI), medications, neuropsychometric evaluations, and gene mutations of patients diagnosed with hyperekplexia were reviewed retrospectively. RESULTS: All hyperekplexia patients had displayed neonatal excessive startle response and muscle stiffness, which we accepted as the major form of the disorder. Sixteen patients had mutations in genes associated with hyperekplexia. The ages at clinical diagnosis and genetic confirmation ranged from newborn to 16 years old and from 2.5 to 19 years, respectively. Nine patients (56.25%) were initially misdiagnosed with epilepsy. Seven patients (43.75%) carried a diagnosis of intellectual disability, defined here as a total IQ <80. Delayed gross motor development was detected in 4 patients (25%), and speech delay was reported in 3 (18.75%). Mutations in GLRA1 (NM_000171.4) and SLC6A5 (NM_004211.5) were identified in 13 (81.25%) and 3 patients (18.75%), respectively. Fifteen of the 16 patients (93.75%) showed autosomal recessive inheritance. Only 1 patient (6.25%) showed autosomal dominant inheritance. CONCLUSION: Although hyperekplexia is a potentially treatable disease, it can be complicated by delayed speech and/or motor acquisition and also by intellectual disability. This study shows that hyperekplexia is not always a benign condition and that all patients diagnosed with hyperekplexia should be evaluated for neuropsychiatric status and provided with genetic testing.

The Knowledge, Attitudes, and Practices of Parents Regarding Sun Protection for Their Children.

OBJECTIVE: To evaluate the knowledge, attitudes, and practices of parents toward protecting their children against skin cancer and the sun. METHODS: This cross-sectional study was performed in Turkey from March through October 2022. The authors used a questionnaire investigating the parents' and children's characteristics, attitudes, and practices toward sun protection and the Skin Cancer and Sun Knowledge (SCSK) scale to collect data. RESULTS: Of 465 parents, 60.2% were women, 83.2% were light-skinned, 20.2% perceived their children as risk-free, 43.8% perceived their children as low risk in terms of skin cancer, 14.6% examined their children from head to foot, 62.3% applied sunscreen to their children, 9.7% made them wear long-sleeved clothing, 60.0% made them wear headgear, 61.1% made them remain in the shade or under a sunshade, and 32.3% made them wear sunglasses. The mean parental SCSK scale score was 14.3 ± 4.1. Scale scores were higher among those who perceived their children as being at high risk for skin cancer (P = .000), whose children had not experienced red or painful sunburn in the previous year (P = .000), and who informed their children about sun protection (P = .000). CONCLUSIONS: Although knowledge of skin cancer and solar protection was high, parental perception of the risk of skin cancer was very low, and attitudes toward skin examination were also very relaxed.

Coffee Consumption Among Adolescents: A Cross-Sectional Study.

The purpose of this cross-sectional study is to analyze and perform a model analysis of the scope of caffeine consumption in adolescents in Turkey. The prevalence of caffeine consumption was 65.5% (321/490), with 22% of boys and 38.45% of girls consuming foodstuffs or beverages containing it. The mean daily caffeine intake was 85.8 mg. Girls consumed all types of coffee more frequently, while boys consumed black tea and energy drinks such as Red Bull and Burn more frequently than girls. Coffee was most frequently consumed to boost concentration, and tea and energy drinks out of habit. Individuals who lived in the city center, smokers, and individuals with high income levels consumed more caffeine (P = .000, P = .000, and P = .000). The level at which energy drinks were consumed by mixing with alcohol in a party setting was 11.5%, and this was more common among boys (P = .000). Greater efforts should be made to inform parents and adolescents of the potential harm resulting from misuse of caffeine.

Knowledge, attitudes and practices of general practitioners and paediatricians towards Group A beta-haemolytic streptococcal tonsillopharyngitis: A cross-sectional study from Türkiye.

BACKGROUND AND OBJECTIVES: General practitioners (GPs) and paediatricians are very important in the management of sore throat in terms of providing correct diagnosis and treatment. The aim of this study was to evaluate the knowledge, attitudes and practices of GPs and paediatricians towards Group A beta-haemolytic streptococcal (GABHS) tonsillopharyngitis. METHOD: Three vignettes/case studies, in which the causative agents were GABHS, Epstein-Barr virus (EBV) and non-EBV viral infection, were presented as part of a questionnaire sent to paediatricians and GPs to elicit information regarding their diagnosis and treatment of tonsillopharyngitis. RESULTS: In all, 236 physicians responded to the questionnaire (126 paediatricians, 106 GPs). GPs registered more accurate diagnoses of GABHS tonsillopharyngitis and tended to administer more symptomatic treatment in the case of non-EBV tonsillopharyngitis than paediatricians. Paediatricians requested more tests in the diagnosis of GABHS tonsillopharyngitis than GPs. DISCUSSION: Most GPs and paediatricians possess adequate knowledge regarding GABHS diagnosis and the differential diagnosis of patients. Differences between the hospital and general practice settings may have affected the approach to symptomatic treatment and requesting tests.

Use of Complementary and Alternative Medicine in Children with Scabies.

INTRODUCTION: Scabies is a highly contagious infestation that is becoming increasingly resistant to treatment. The use of complementary and alternative medicine (CAM) has gradually increased for numerous diseases, and the aim of this study is to investigate the parental use of CAM in the treatment of scabies. METHODS: The study was planned as a cross-sectional study involving children who came to the departments of child health and diseases and dermatology departments for any reason and were diagnosed with scabies. Questionnaires were given to parents by physicians during face-to-face interviews, and responses were recorded. RESULTS: 75.9% of the 162 parents participating in the study were mothers, and 40% of the parents reported that their income was below expenses. The mean number of people living in the household was 4 (min 3-max 13), and the proportion of extended family was 34%. The mean duration of symptoms in patients with scabies was 4.8 ± 3.92 weeks (min. 1-max. 27), and scabies was diagnosed on average at the second visit to the doctor. CAM was used by 80.9% of parents for children with scabies. They most commonly used tea tree oil for itching and ice for the rash. Parents working in education and health care were less likely to use CAM (p < 0.001), while more than 90% of housewives used at least one CAM method on their children. Analysis showed that 61.7% of female users had benefited from CAM. Significant differences between parents who used CAM and those who did not were found in education (p = 0.003), monthly income (p = 0.023), number of children (p = 0.022), and living in large families (p = 0.001). The use of CAM was six times higher in parents in large families (OR: 6.143, 95% CI 0.776-21.252). CONCLUSIONS: With regard to the treatment of scabies, it is important to strengthen the education of health professionals at all levels, put the treatment of patients on a regular basis, explain the conditions that require special attention, and monitor patients closely. New treatment protocols must also be developed for refractory scabies, including alternative therapies.

Turkish mothers' knowledge and attitude about HPV vaccine.

BACKGROUND: The study aimed to evaluate the knowledge and attitude of Turkish mothers about cervix cancer,HPV infection and vaccination. METHODS: This cross-sectional study was conducted the mothers with children aged under 18 years who applied pediatric outpatient clinic.Research data were collected using a face-to-face survey includes sociodemographic characteristics of patients and mothers' knowledge level and attitude about the vaccination for HPV and cervical cancer. RESULTS: The rate of mothers who stated that they knew the causes of cervical cancer was 30.3%. Of the 71.5% mothers did not know whether there was a vaccine that protects against cervical cancer.Of the mothers who stated to have heard about the HPV vaccine, 39.2% said that the HPV vaccine is received at 9 years and above, 35.7% said that it could be given to both genders, and 75% knew that the vaccine is not reimbursed. Educational status (p < 0.001), working as a healthcare worker (p < 0.001) and the level of income (p < 0.001), were significantly correlated with the awareness of the causes of cervical cancer in a positive direction. None of the participants vaccinated their child, 91.5% ask for information about HPV and 67.3% stated that they might consider vaccination. CONCLUSIONS: The development of vaccines against HPV has significantly changed the approach used in the treatment of cervical cancer. Healthcare professionals have a great responsibility to inform the public about the HPV vaccine. PRACTICE IMPLICATIONS: Healthcare providers can use the results of this study to identify parents at risk for vaccine hesitancy and initiate individualized education to promote on-time childhood vaccination.

How did the COVID-19 Pandemic Affect Pediatric Neurologists?

BACKGROUND: In addition to physical health, pandemics affect mental health. The aim was to reveal problems encountered during the coronavirus disease 2019 (COVID-19) pandemic by pediatric neurologists and pediatric neurology residents in Turkey. METHODS: Participants were sent a survey form using Google Forms between November 05, 2020, and December 07, 2020. The form included questions about demographic information, changes to services offered, effects of the COVID-19 pandemic on patient follow-up/treatment and doctor decision-making, the Depression-Anxiety-Stress Scale 21, and the Impact of Events scale for posttraumatic stress disorder. RESULTS: A total of 232 pediatric neurologists and residents (mean age: 40.67 ± 7.8 years) participated. Of these 182 participants (78.4%) stated the pandemic had affected decisions during diagnosis and treatment management. A total of 222 participants completed the Depression-Anxiety-Stress Scale 21 and Impact of Events scale. Of these, points at levels that were "severe and very severe" were present for 42 participants (18.9%) for depression, 29 participants for anxiety (13%), and 31 participants for stress (14%). Impact of Events scale points were high at "severe" levels for 122 participants (55%). All scores were higher for those with individuals at risk in terms of COVID-19 in their family compared with those without individuals at risk in the family (P < 0.05). CONCLUSIONS: As we emerge from the destruction caused by COVID-19, it will be beneficial not only for our professional practice but also in terms of our individual health to learn lessons that will assist in managing the next pandemic waiting in our future.

Students' unchanging smoking habits in urban and rural areas in the last 15 years.

BACKGROUND: Smoking is the main preventable public health problem particularly for youth worldwide. The aim of the present study was to determine the prevalence of smoking habits among students at secondary and high schools, and to compare the findings with those of a study conducted 15 years ago in the same area. METHODS: In this cross-sectional study 6212 students (51.2% female; 48.8% male) were selected randomly from rural and urban areas in Samsun. All students completed a face-to-face questionnaire. RESULTS: The overall prevalence of smoking was 13.0% (male students, 18.1%; female students, 8.2%). The mean starting age of smoking was 14.1 ± 1.5 years. Prevalence of smoking was 15.7% in urban areas and 8.1% in rural areas. The most important factors for starting smoking were social group and families. Compared with a study conducted 15 years previously in the same area for male students, smoking prevalence was increased in rural, but decreased in urban areas. CONCLUSIONS: Smoking prevalence in students in Samsun was similar to that in a study conducted 15 years previously. It is important to use anti-smoking campaigns directly targeted at teenager and they should be fully informed of the harmful effects of smoking.

Habitual tea drinking and bone mineral density in postmenopausal Turkish women: investigation of prevalence of postmenopausal osteoporosis in Turkey (IPPOT Study).

AIM: In this epidemiological report, we assessed the prevalence of osteopenia and osteoporosis (OP) in postmenopausal Turkish women and the relationship between body mass index (BMI), and some nutritional factors (habitual tea, coffee, tobacco, and milk product consumption) with OP. METHODS: This multicenter study was done in postmenopausal women residing in five big cities, in four different regions of Turkey between August and November 2005. An inclusion criterion was being in the postmenopausal period for at least 12 months. A semi-structured questionnaire was completed by face-to-face interview, consisting of closed- and open-ended questions about demographic characteristics, nutritional status, and habits with two or more choices as possible responses. Bone mineral density (BMD) measurements were performed with a MetriScan Densitometer (Alara Inc., CA, USA). RESULTS: Seven hundred twenty-four women were included in the study. The mean age was 57.6 +/- 9.6 years, and mean age at natural menopause was 46.4 +/- 5.6 years. Of the participants, 51% were illiterate. According to WHO classification; 42.5% were normal in terms of BMD, 27.2% had osteopenia, and 30.2% had OP. Women with high education levels had better T-scores (p = 0.019). Increase in BMI also had a positive effect on T-scores (p < 0.0001). A linear correlation was found between age (r= -0.386, p < 0.0001), BMI (r = -0.175, p < 0.0001), and education (r = -0.317, p < 0.0001), with T-scores. The T-scores of women who consumed tea on a regular basis were found to be higher than non-consumers (-1.51 +/- 1.68 vs. -1.09 +/- 1.66; p = 0.070) [when smokers, those who received hormonal therapy (HT), and those > 65 years were excluded]. CONCLUSION: OP was determined in 1/3 of the women. Advanced age (> 65) and being illiterate were negative factors, while high education levels, being overweight, and being treated with HT had a positive effects on BMD. Habitual tea drinking also may have a positive effect on BMD. However, tea drinking was not found to be a statistically significant factor in the present study.