Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss:a retrospective multicentre study

Background: The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor cochlear implant (CI) performance. It was long thought that TMPRSS3 was particularly expressed in the SGNs. However, this is not in line with recent reviews evaluating CI performance in subjects with TMPRSS3-associated sensorineural hearing loss (SNHL) reporting overall beneficial outcomes. These outcomes are, however, based on variable follow-up times of, in general, 1 year or less. Therefore, we aimed to 1. evaluate long-term outcomes after CI implantation of speech recognition in quiet in subjects with TMPRSS3-associated SNHL, and 2. test the spiral ganglion hypothesis using the TMPRSS3-group. Methods: This retrospective, multicentre study evaluated long-term CI performance in a Dutch population with TMPRSS3-associated SNHL. The phoneme scores at 70 dB with CI in the TMPRSS3-group were compared to a control group of fully genotyped cochlear implant users with post-lingual SNHL without genes affecting the SGN, or severe anatomical inner ear malformations. CI-recipients with a phoneme score ≤ 70% at least 1-year post-implantation were considered poor performers and were evaluated in more detail. Results: The TMPRSS3 group consisted of 29 subjects (N = 33 ears), and the control group of 62 subjects (N = 67 ears). For the TMPRSS3-group, we found an average phoneme score of 89% after 5 years, which remained stable up to 10 years post-implantation. At both 5 and 10-year follow-up, no difference was found in speech recognition in quiet between both groups (p = 0.830 and p = 0.987, respectively). Despite these overall adequate CI outcomes, six CI recipients had a phoneme score of ≤ 70% and were considered poor performers. The latter was observed in subjects with residual hearing post-implantation or older age at implantation. Conclusion: Subjects with TMPRSS3-associated SNHL have adequate and stable long-term outcomes after cochlear implantation, equal to the performance of genotyped patient with affected genes not expressed in the SGN. These findings are not in line with the spiral ganglion hypothesis. However, more recent studies showed that TMPRSS3 is mainly expressed in the hair cells with only limited SGN expression. Therefore, we cannot confirm nor refute the spiral ganglion hypothesis.</p

Sharing stories: Narrative and dialogue in responsive nursing evaluation

Responsive evaluation is an emerging vision and rationale for nursing evaluation. In this vision, evaluation is redefined as an engagement with all stakeholders about the value and meaning of their practice as a vehicle for learning, understanding, and improvement. In this article, the authors aim to illustrate the utility of a particular version of responsive evaluation, one that is connected with recent ideas about narrative and dialogue. They concentrate on methodological issues and use a case example to illustrate these issues. The case concerns a responsive evaluation of the quality of palliative care for cancer patients in a Dutch region. Methodological issues include the collection of stories through the use of conversational interviews. Stories can reveal the meaning and ambiguity of everyday situations. If evaluators listen to different stories and facilitate a dialogue about stories, this will enhance mutual understandings and promote respect, inclusiveness, and social equity

Perspectieven op wilsbekwaamheid in de psychiatrie: Cognitieve functies, emoties en waarden

BACKGROUND: Informed consent, a central concept in the doctor-patient relationship, is only valid if it is given by a competent patient. AIM: To review the literature on competence or decision-making capacity in psychiatry. METHOD: We studied the international literature and relevant Dutch material such as health acts and medical guidelines. RESULTS: We found a consensus in the literature about the assessment criteria and the basic principles, but we did not find any consensus about the exact definition of competence. We review a number of perspectives on competence. The conceptualisations of competence, particularly in the field of psychiatry, are still being debated. The best known clinical tool to assess patients' capacities to make treatment decisions is the MacArthur Competence Assessment Tool (MacCAT). CONCLUSION: There are three perspectives on competence: a cognitive perspective, a perspective concerning emotions and a perspective relating to values. Further research is needed in order to make the conceptual debate on competence relevant to psychiatric practice

The drinker or the drink? The concept of alcoholism in the 19th and 20th century

About 1800 the concept of addiction is introduced in the medical world. Medical doctors renounce the idea that misuse of alcohol is the result of a free choice of the drinker. The drinker is no longer seen as a responsible agent, but is declared to be under the influence of a disease. Yet the moral approach, with its accentuation of the responsibility of the drinker, does not vanish. Although a disease-approach seems to exclude moral concepts, both appear to go together well in practice. Psychiatrists in the second half of the 19th century combine the disease-concept with the so-called 'Moral Treatment'. The disease-concept is adopted by social groups with a moral background, such as the Temperance Movement in the last century and Alcoholics Anonymous in this century. These developments show that a disease-approach and a moral approach are not mutually exclusive. In this article we argue that both approaches presuppose one another and call for one another. This throws new light, not only on the history of alcoholism, but also on the status of recent positions in the alcoholism-debate, which reject both the disease-model and the moral approach and stress social aspects of alcohol-use and alcoholism

Autonomie in de psychiatrie

The ethical principle of respect for the autonomy of the patient has acquired an important place in psychiatric care. Within the dominant rights discourse this autonomy principle is onesidedly filled in from a negative concept of liberty: the protection of the individual from unwanted interference. Opposite to this interpretation of the principle of autonomy a number of alternative views are elaborated. Characteristic for these approaches is that they give a broader and richer interpretation of the autonomy principle. The implications of these different perspectives for clinical practice are illustrated on the basis of a case