Our findings were consistent with other study results about the prevalence of SLD. The relationships between the probable prevalence rates and sociodemographic data were discussed.
The development of whole-genome screening methodologies for the detection of copy number variations (CNVs), such as array-based comparative genomic hybridization (aCHG), provides a much higher resolution than karyotyping leading to the identification of novel microdeletion and microduplication syndromes often associated with an autism spectrum disease (ASD) phenotype. The aim of the study was to determine CNVs of patients with ASD by using array-based comparative genomic hybridization.Methods: Fifty-three patients diagnosed with ASD between 20.01.2014 and 14.01.2015 were included in the study. Chromosome analysis of the patients was performed from peripheral blood cultures and analysed as normal. All patients were evaluated with P064C1 and P096A2 MLPA probes in terms of 16 mental retardation related syndromes. For aCGH method, SurePrint G3 Human microarrays 8x60K were used with genomic DNA isolated from peripheral blood.Results: According to results of 53 patients who were included in and performed with arrayCGH, 8 (15%) patients had CNVs classified as pathogenic or variant of unknown significance (VOUS) in the study. We detected a pathogenic NRXN1 gene partial CNV deletion (2p16.3) in two patients. Also we identified a 900 kb duplication of 4p15.31 including SLIT2 gene, and a 245 kb duplication of 15q11.2 including PWRN1 gene in one patient. Our other findings are considered to be a variant of unknown significance (VOUS).
Conclusion:The results of the study support the literature knowledge, where the copy number variations that cannot be detected with conventional cytogenetics methods in terms of size may happen in patients with ASD.
The results of the study support the literature knowledge, where the copy number variations that cannot be detected with conventional cytogenetics methods in terms of size may happen in patients with ASD.
Early diagnosis of autism certainly stands as one of the most important determinants to ensure a better prognosis of the disorder, it is common that the screening programs to ensure this, end up not being implemented in health systems of many countries. This may stem from the disadvantages of classically suggested scale‐based screening (SBS) programs. This study presents a nationwide recognition and referral model for early diagnosis of autism spectrum disorders (ASD), in order to meet the obvious need for new methods. The model consists of interactive video‐based training (IVBAT) of health care workers (HCW), a system where family physicians (FPs) record five probable indicators of autism in their family medicine information system; and is therefore, a practical referral system in which the FP may refer a child with any suggestive finding to a child psychiatrist and may well continue to monitor recently diagnosed cases. The autism teams consist of trained child psychiatrists and coordinators, who delivered trainings to 29,612 FPs and 23,511 nurses countrywide. Of 98.8% FPs were trained throughout the country. Total of 1,863,096 children were reported to have a brief examination of autism signs in Family Medicine Units by trained FPs and nurses. A total of 55,314 (2.96%) these children were deemed at risk for ASD and were referred to child psychiatrists. In the evaluation of 55,314 children by child psychiatrists, 10,087 cases were diagnosed with developmental disorders, while 3226 of children at risk were diagnosed with autism. The results of this study, which reached to the largest sample to date, suggest that some other alternative methods, in addition to SBS should also be tested in order to screen ASD.
Lay Summary
In this study, a nationwide recognition and referral model for early identification of autism spectrum disorders (ASD) is presented. Scale‐based screening (SBS) is the most recommended model for autism, however, it is clear that most countries can not implement this model in their health system. The results of this study, which reached to the largest sample to date, suggest that SBS may not be the only me for screening ASD and that alternative methods should be tried, as there is an obvious need for exploratory approaches.
Objective: Many individuals with cigarette addiction are known for beginning to smoke cigarettes during adolescence years. In this study, we aimed to present the clinical outcomes of smoking cessation project conducted in an Anatolian school in Kartal district of Istanbul, Turkey. Methods: Social and motivational studies were carried out on adolescent smokers after scanning in terms of smoking in an Anatolian school and 44 of these adolescents who are clinical requirements were evaluated and followed by Chest disease and child and adolescent mental health for six months. Carbonmonoxide (CO) measurements in the expiratory air and carboximeter (piCO smokerlyzer, Bedfont Scientific Ltd, England) were made at the first visit and follow-up. Simultaneously, K-SADS PL (Schedule for Schizophrenia and Affective disorders for School Age Children) was administered diagnostically in mental health evaluation. Results: A total of 44 adolescents, 13 girl (29.5%) and 31 boy (70.5%), with a mean age of 17.31 were followed up. The mean age of initiation of cigarette smoking was 14.2 ± 1 and 32 (82.7%) adolescent were found to have at least one smoker in their home. While 22.7% of adolescents did not try smoking cessation, 77.3% of them did. Six of these adolescents indicated that they did not smoke during the six months; 55.5% of these adolescents have at least one mental illness; the most common diagnoses were 25.0% (n = 11) of ADHD (Attention Deficit Hyperactivity Disorder) and 20% (10) of MD (Major Depression). While depression was significantly frequent in girls (p = 0.043), the frequency of ADHD was not significant in terms of gender. Depression presence was associated with early onset of cigarette smoking in males (p = 0.019), but not with females (p = 0.394). There was a statistically significant correlation between smoking cessation effort and age in the follow-up period (p = 0.022), and earlier adolescents stated that they wanted to quit smoking more. While there is no significant association between smoking cessation effort and mental disease, there was a statistically close relation with parent and sibling smoking (p = 0.07) and significant correlation with motivation and smoking cessation effort (p = 0.016). Conclusions: Smoking cessation work in adolescents is much more difficult than in adults. Biological and social factors and peer impact influence interventions. In our study, very few adolescents stated to quit smoking for 6 months, and the rate of psychiatric illnesses among adolescents and the presence of individuals smoking at home were found to be quite high. It has been the result of these factors also affecting the success of adolescents to start smoking and to quit smoking.
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