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Purpose: This study aims to evaluate the health literacy level of the parents of children diagnosed with Down syndrome (DS) within one institution in Turkey. Design/methodology/approach: A cross-sectional survey measuring demographics, information of the child and the parent and health literacy was administered to participants. The health literacy levels in the study were measured with the European Health Literacy Scale (EHLS), which consists of 47 questions. Findings: Of the 65 participants who completed the questionnaire, 56.9% were mothers, 68.1% were diagnosed in the neonatal outpatient clinic examination after birth, and 58.5% stayed in the neonatal intensive care unit after birth. The mean score of the IHLS scale was 25.06 ± 6.59. Of the parents, 63.1% were found to be inadequate, 18.5% problematic-limited, and 18.5% adequate health literate. Any parent with excellent health literacy level was identified. High education level (p < 0.001), high income level (p < 0.001), living in the city center (p < 0.05), planned pregnancy (p < 0.05) and being a health worker (p < 0.001) were found to be statistically significant with a high EHSL score. Research limitations/implications: The presence of Down syndrome (DS) in a child also necessitates ongoing monitoring for a range of conditions, including eye diseases and heart disease. Some surgical procedures, such as heart or gastrointestinal surgeries, may also be required. Additionally, the child may require the administration of various medications. Finally, due to the potential lifelong need for assistance, the child may require the support of an adult throughout their lifetime. This is because of the child's inability to live independently due to their mental state. Therefore, parent education is the most important issue in the follow-up of the disease. Practical implications: To the best of the authors' knowledge, this is the first study to determine that parents of children diagnosed with DS have very limited knowledge of the disease and health literacy. Explanation of current diseases, treatments and training of parents should also be included in genetic counseling. Social implications: DS is a chromosomal disease that requires multidisciplinary care. Parents have to know the course of the disease and its complications. Originality/value: The findings of this study indicate that parents of children with Down syndrome exhibit a profound lack of knowledge regarding the nature of their child's condition and the available healthcare options. It is therefore imperative that genetic counseling incorporates an explanation of the diagnosed diseases, treatments, and educational resources for parents. [ABSTRACT FROM AUTHOR]

Objective: Neural tube defects (NTD) are a group of severe human congenital malformations and complex disorders appear to be affected by multiple factors, both genetic and environmental contributions. To asses the frequency of NTD in Samsun province and investigate the relationship between NTD and sociodemographic properties of families, maternal eating habits, maternal serum folic acid, and vitamin B12 levels. Method: The women who gave birth to infants with NTDs and whose pregnancies were terminated due to having fetuses with NTDs between July 2007 and September 2008 were included in the study.The frequency of NTD was calculated from medical records for Samsun province.Sociodemographic characteristics,nutritional status, obstetric histories, teratogen exposure and vitamin B12 and folic acid levels of study group were compared with controls. Results: In the study period, 63 fetuses with isolated NTD were noted. The frequency of NTD in Samsun region was %o3,4. In the study group, family incomes, maternal education and consumption of meat, milk, egg, cheese, vegetable, and legumes were lower than the control group (p<0.05). Sharing of the house with grandparents, unemployment rate, rate of febrile diseases, use of antipyretics, exposure to radiation were higher (p<0.05) in study group. Both maternal serum vitamin B12, folic acid in NTD group were lower than controls (p<0.05). Conclusions: The frequency of NTD in Samsun region was relatively high. NTD was more frequent in individuals with poor maternal education, low income, and insufficient nutrition. Low serum vitamin B12 and folic acid levels posed an increased risk for NTD. The importance of the vitamin supplements during pregnancy is to be better appreciated by the health authorities as well as the families. [ABSTRACT FROM AUTHOR]

Cardiofaciocutaneous (CFC) syndrome is one of the developmental disorders caused by a dysregulation of the Ras/mitogen-activated protein kinase (MAPK) pathway. RASopathies share overlapping clinical features, making the diagnosis challenging, especially in the newborn period. The majority of CFC syndrome cases arise by a mutation in the BRAF, MAP2K1, MAP2K2 , or (rarely) KRAS genes. Germline KRAS mutations are identified in a minority of CFC and Noonan syndrome cases. Here, we describe a patient with a KRAS mutation presenting with a CFC syndrome phenotype. The female patient was referred for genetic testing because of congenital exophthalmos. Her facial appearance is distinctive with a coarse face, exophthalmos, ptosis, downslanting palpebral fissures, hypertelorism, deep philtrum, downturned corners of the mouth, and a short neck. She suffered from feeding difficulties, poor weight gain, and developmental delay. The sequencing of the genes involved in the MAPK pathway ( PTPN11, SOS1, RAF1, KRAS, NRAS, MAP2K1, SHOC2, CBL, and SPRED1 ) identified a heterozygous de novo NM&#95;004985.4:c.173C>T (p.Thr58Ile) in the KRAS gene. Germline KRAS mutations have been identified in approximately 2% of the reported NS cases and less than 5% of the reported CFC syndrome cases. Because CFC and Noonan syndrome share clinical overlapping features, the phenotype caused by KRAS mutations is often difficult to assign to one of the 2 entities. The mutation that we detected in our patient was previously reported in a patient with an Noonan syndrome phenotype. However, our patient predominantly exhibits CFC clinical features. In our case, coarse facial appearance and severe developmental delay help discriminate CFC from Noonan syndrome. Thus, patient follow-up, especially for delayed motor milestones suspected from RASopathies, is important for the discrimination of overlapping conditions as in the abovementioned syndromes., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2019 by S. Karger AG, Basel.)