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Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options. This study is focused on determining the prevalence of the FMR1 gene mutation among ASD cases in Indonesia. DSM‐IV‐TR criteria were administered to diagnose ASD; symptom severity was classified using the Childhood Autism Rating Scale. Cytogenetic analysis, polymerase chain reaction, and Southern blot for FMR1 gene analysis were carried out to confirm the diagnosis of fragile X syndrome. The fragile X site and FMR1 full mutation allele were identified in 3 out of 65 (4.6%) and 4 out of 65 (6.15%) children aged 3–17 years (57 boys and 8 girls), respectively. The Fragile X laboratory workup is essential in the evaluation of patients with ASD. Molecular analysis is most accurate, while cytogenetic documentation of the fragile X site can also be useful if molecular testing is not available. 相似文献
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Communication skills training is now an important part of undergraduate medical education. Communication in the area of human sexuality is an area not often dealt with. This paper describes a course for fifth year students in this area at the Queen's University, Belfast. The students were given a short course on communication in human sexuality in relation to psychosexual medicine, obstetrics, gynaecology and genitourinary medicine. This was assessed by Objective Structured Clinical Examination (OSCE). The results showed that the majority of students had difficulties communicating in the area of sexual behaviour. They were much better in the areas of obstetrics, gynaecology and genitourinary medicine. 相似文献
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Hila Renee Lutz Kelly McClure Sharon Armstrong 《Journal of child & adolescent substance abuse》2017,26(3):229-241
Social problem solving has been associated with alcohol use in adolescents, but has not been examined within the context of well-established risk factors, such as childhood conduct problems, parental history of alcohol use, association with deviant peers, and behavior undercontrol. This study surveyed 120, 18-year-old first-year college students to examine whether poor social problem solving is a risk factor for adolescent alcohol use above and beyond the other well-established risk factors and to examine whether social problem solving is a moderator between behavior undercontrol and alcohol use in adolescents. Hierarchical multiple regressions found that social problem solving was not a significant risk factor above and beyond well-established risk factors for adolescent alcohol use. Furthermore, social problem solving was not a significant moderator between behavior undercontrol and adolescent alcohol use. The results also indicated that association with deviant peers and family income accounted for significant variance in adolescent alcohol use, suggesting association with deviant peers and family income are the risk factors that are most strongly related to adolescent alcohol use. 相似文献
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