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1.
Article in German | MEDLINE | ID: mdl-38862374

ABSTRACT

OBJECTIVES: The aim of the study was to explore the subjective views of general practitioners on the applicability of the Adult ADHD Self-Report Screening Scale for DSM-5 (ASRS-5) as a screening tool for attention-deficit/hyperactivity disorder (ADHD) in adults in general practice. METHOD: Eleven general practitioners, who had participated in the validation study of the German version of the ASRS-5, were interviewed. For this purpose, a semi-structured interview guide was designed using the Consolidated Framework for Implementation Research (CFIR). The interviews were audio-recorded, transcribed, and analyzed using qualitative content analysis according to Kuckartz. RESULTS: The ASRS-5 seems to work well in general medical practice. But there is evidence for a lack of knowledge about ADHD in adults among general practitioners and a demand for further training in this area. Moreover, insufficient possibilities for subsequent treatment after a positive ADHD screening were claimed. DISCUSSION: In general medicine, the introduction of a screening using ASRS-5 in cases of clinical suspicion could be the first step towards improving the management of adult patients with ADHD. CONCLUSION: Optimizing the management of adults with ADHD requires additional information and training initiatives to support early diagnosis especially in the primary care setting, and to reveal treatment options and care concepts for adults with ADHD.

2.
Front Psychol ; 13: 858147, 2022.
Article in English | MEDLINE | ID: mdl-35529560

ABSTRACT

Adult attention-deficit/hyperactivity disorder (ADHD) is common, but often undiagnosed. A valid and time-efficient screening tool for primary care is needed. Objective of this study is to evaluate the German version of the Adult ADHD Self-Report Scale for DSM-5 (ASRS-5) and its feasibility, acceptability, and reliability as a screening tool for adult ADHD in primary care. A multi-centered prospective, diagnostic study was performed. We recruited 262 patients in primary care practices and at an ADHD Outpatient Service of a department of psychiatry in Germany. Patients from 18 to 65 years with suspected or diagnosed ADHD were included by medical doctors, as well as non-ADHD patients as "negative controls." Participants filled in the ASRS-5 and a sociodemographic questionnaire. The Integrated Diagnosis of Adult ADHD, revised version (IDA-R) performed by trained interviewers was used for validation. Feasibility, acceptability, and credibility in primary care practices were examined through a semi-structured interview. The German version of the ASRS-5 showed comparable psychometric properties to the English original version (sensitivity 95.6% and specificity 72.3%). For factor structure, a parallel analysis suggested one latent dimension. Performing confirmatory factor analysis, the best fit was achieved for a general factor with one correlated error. Internal consistency results in Raykovs Omega = 0.86 and Cronbach's α = 0.88. The ASRS-5 was assessed positively in terms of feasibility, acceptability, and credibility by interviewed general practitioners. Potential problems were raised for "treatment options," "stigmatization," and "knowledge gaps." In conclusion, the German version of the ASRS-5 offers a promising tool to improve adult ADHD patients' diagnosis and healthcare.

3.
J Endocr Soc ; 2(3): 266-278, 2018 Mar 01.
Article in English | MEDLINE | ID: mdl-29600293

ABSTRACT

Gain-of-function somatic mutations in the ubiquitin specific protease 8 (USP8) gene have recently been reported as a cause of pituitary adenomas in Cushing disease. Molecular diagnostic testing of tumor tissue may aid in the diagnosis of specimens obtained through therapeutic transsphenoidal surgery; however, for small tumors, availability of fresh tissue is limited, and contamination with normal tissue is frequent. We performed molecular testing of DNA isolated from single formalin-fixed and paraffin-embedded (FFPE) tissue sections of 42 pituitary adenomas from patients with Cushing disease (27 female patients and 15 male patients; mean age at surgery, 42.5 years; mean tumor size, 12.2 mm). By Sanger sequencing, we identified previously reported USP8 missense mutations in six tumors. Targeted next-generation sequencing (NGS) revealed known or previously undescribed missense mutations in three additional tumors (two with two different mutations each), with mutant allele frequencies as low as 3%. Of the nine tumors with USP8 mutations (mutation frequency, 21.4%), seven were from female patients (mutation frequency, 25.9%), and two were from male patients (mutation frequency, 13.3%). Mutant tumors were on average 11.4 mm in size, and patients with mutations were on average 43.9 years of age. The overall USP8 mutation frequency in our cohort was lower than in previously described cohorts, and we did not observe USP8 deletions that were frequent in other cohorts. We demonstrate that testing for USP8 variants can be performed from small amounts of FFPE tissue. NGS showed higher sensitivity for USP8 mutation detection than did Sanger sequencing. Assessment for USP8 mutations may complement histopathological diagnosis.

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