Huntington's disease: Psychological aspects of predictive testing

Predictive testing for Huntington's disease appears to have long lasting psychological effects. The predictive test for Huntington's disease (HD), a hereditary disease of the nervous system, was introduced in the Netherlands in the late eighties. As adverse consequences of the test were anticipated, the effects of testing were studied conscientiously. The general conclusions of these studies were that the negative effects of testing were limited and temporary. The positive consequences of testing seemed to outweigh the negative ones. Knowing if one carried the gene put an end to the unbearable uncertainty of becoming diseased in the future. Testing made it possible to make important decisions, such as concerning having children, pursuing further studies or buying a house. However, long-term investigation at the Leiden University Medical Centre (LUMC) now demonstrates that ten years after the test, when the first symptoms are likely to occur in the near future, the distress of carriers increases again. Strikingly, the current findings are based on a selection of psychologically more stable participants. Individuals who withdrew from the study directly after receiving an unfavourable test result reported (pre-test) considerably less well-being, a worse view of the future, and more evasive behaviour. It is expected that the psychological distress of these dropouts is even greater than that of the retained individuals. It is worrisome that these dropouts stay out of reach of further psychological counselling. Reinier Timman LUMC Centre for Human and Clinical Genetics, and dept. of NeurologyDe Open Ankh, Dtichting Dienstverlening GezondheidszorgUBL - phd migration 201

STEP II Standaard Evaluatie Project 2000-2008

Deze uitgave is de afsluitende rapportage van acht jaar STEP II. Bij de start van STEP II was er sprake van de unieke situatie dat een aantal vergelijkbare afdelingen systematisch informatie verzamelden over de effecten van het behandelmodel dat wij klinische psychotherapie zijn gaan noemen, om dat met elkaar te vergelijken met als doel de verbetering van de kwaliteit van de geboden behandelingen. Ook werden er aarzelende stappen gezet in het omvormen van het effectonderzoek naar een meer wetenschappelijke standaard. Inmiddels is routine outcome monitoring gemeengoed aan het worden en zijn de eerste resultaten gepresenteerd van een groot wetenschappelijk onderzoek naar de (kosten)effectiviteit van diverse behandeldoseringen, waaronder de (deeltijd)klinische psychotherapie. Nieuwe tijden vragen nieuwe plannen, vragen om afronding van het oude en bezinning op de toekomst. Binnenkort zal STEP III het licht zien: een mean and lean design dat snelle terugkoppeling mogelijk maakt zodat deelnemende instellingen een benchmark kunnen opzetten gericht op verbetering van de kwaliteit van hun behandelingen

Myotonic dystrophy: The burden for patients and their partners

Objective: Dystrophia myotonica is characterized by progressive muscular weakness, myotonia, mental slowness and lack of initiative, which causes problems in daily life both for patients and for their spouses. Some couples seem to deal with these problems satisfactorily, while for others they are quite burdensome. The aim of this study was to describe the relationship of severity of dystrophia myotonica and psychological wellbeing in patients and partners. Methods: Sixty-nine couples, in whom one partner had dystrophia myotonica, completed questionnaires on severity of dystrophia myotonica, marital satisfaction, anxiety and depression (Hospital Anxiety and Depression Scale), hopelessness (Beck Hopelessness Scale) and general psychological health (General Health Questionnaire-12). Results: For patients, a worse view of the future, worse general wellbeing, more anxiety and more depression was associated with a greater need for help. For partners, worse general wellbeing and more anxiety was associated with a lack of initiative of the patient and less marital satisfaction. It is noteworthy that 40% of patients and particularly female partners had Beck Hopelessness Scale scores suggestive of clinically relevant depression. Conclusion: Dystrophia myotonica places a heavy burden on patients, and especially on female partners. The need for help and dependency has more influence on the wellbeing of patients than the symptoms of dystrophia myotonica themselves. Marital satisfaction is a strong predictor of better wellbeing, both for patients and, even more so, for partners

Adaptation and validation of the Dutch version of the nasal obstruction symptom evaluation (NOSE) scale

The nasal obstruction symptom evaluation (NOSE) scale is a validated disease-specific, self-completed questionnaire for the assessment of quality of life related to nasal obstruction. The aim of this study was to validate the Dutch (NL-NOSE) questionnaire. A prospective instrument validation study was performed in a tertiary academic referral center. Guidelines for the cross-cultural adaptation process from the original English language scale into a Dutch language version were followed. Patients undergoing functional septoplasty or septorhinoplasty and asymptomatic controls completed the questionnaire both before and 3 months after surgery to test reliability and validity. Additionally, we explored the possibility to reduce the NOSE scale even further using graded response models. 129 patients and 50 controls were included. Internal consistency (Cronbach’s alpha 0.82) and test–retest reliability (intraclass correlation coefficient 0.89) were good. The instrument showed excellent between-group discrimination (Mann–Whitney U = 85, p < 0.001) and high response sensitivity to change (Wilcoxon rank p < 0.001). The NL-NOSE correlated well with the score on a visual analog scale measuring the subjective sensation of nasal obstruction, with exception of item 4 (trouble sleeping). Item 4 provided the least information to the total sc

Development of the Treatment Inventory of Costs in Psychiatric Patients: TIC-P Mini and Midi

AbstractBackgroundMedical costs of (psychiatric) illness can be validly measured with patient report questionnaires. These questionnaires comprise many detailed items resulting in lengthy administrations.ObjectivesWe set out to find the minimal number of items needed to retrieve 80% and 90% of the costs as measured by the Treatment Inventory of Costs in Patients with psychiatric disorders (TIC-P).MethodsThe TIC-P is a validated patient-reported outcome measure concerning the utilization of medical care and productivity losses. The present study focused on direct medical costs. We applied data of 7756 TIC-P administrations from three studies in patients with mental health care issues. Items that contribute least to the total cost were eliminated, providing that 80% and 90% of the total cost was retained.ResultsAverage medical costs per patient were €658 over the last 4 weeks. The distribution of cost was highly skewed, and 5 of the 14 items of the TIC-P accounted for less than 10% of the total costs. The 80% Mini version of the TIC-P required five items: ambulatory services, private practice, day care, general hospital, and psychiatric clinic. The TIC-P Midi 90% inventory required eight items. Both had variance between the three samples in the optimal choice of the items.ConclusionsThe number of items of the TIC-P can be reduced considerably while maintaining 80% and 90% of the medical costs estimated by the complete TIC-P. The reduced length makes the questionnaire more suitable for routine outcome monitoring

SF-6D utility values for the better- and worse-seeing eye for health states based on the Snellen equivalent in patients with age-related macular degeneration

Objective: Economic evaluations in wet age-related macular degeneration (ARMD) is hampered as often utility values for solely one eye are used, mostly the better-seeing eye (BSE). Moreover, frequently chosen methods rely on patient values and/or disease specific measures, while economic evaluations prefer generic quality of life (QoL) measures based on societal preferences. The generic QoL utility instrument EQ-5D has shown to be insensitive for differences in visual acuity. The aim of this study was therefore to provide societal utility values, using the generic SF-6D, for health states acknowledging both BSE and worse-seeing eye (WSE). Methods: SF-6D utility values of 191 ARMD patients (≤65 years) with 153 follow-up measures at 1 year were used to fill health states defined by the combination of BSE and WSE using Snellen equivalents; no visual loss (≥20/40), mild-moderate (20/200) and severe (≤20/200). Results: QoL utilities were estimated for the SF-6D, ranging from 0.740 for ARMD patients without visual loss to 0.684 for patients with a combination of mild-moderate visual loss in their BSE and severe visual loss in their WSE. Conclusion: Societal utility values are provided for ARMD patients using the generic QoL instrument SF-6D for visual acuity health states based on both BSE and WSE. The range of the values is smaller than previous elicited utilities with the disease-specific VisQoL. Besides, the utility values are placed on a more realistic position on the utility scale, and SF-6D utility values avoid the problem associated with the interpretation of disease-specific utility values

Hearing the voices of children: self-reported information on children's experiences during research procedures

__Introduction:__ In paediatric research, there is a tension between what you can ask from a child and what is needed for the development of evidence-based treatments. To find an optimal balance in conducting clinical research and protecting the child, it is necessary to have empirical data on children's experiences. Until now, there are scarce empirical data on the experiences from the perspective of the child. In this manuscript, we describe the protocol of a twophase study measuring children's self-reported experiences during research procedures. __Methods and analysis:__ In the first phase of our study, we aim to interview approximately 40 children (6-18 years) about their self-reported experiences during research procedures. In the second phase, we will develop a questionnaire to measure children's experiences during research procedures in a quantitative way. We will use the interview outcomes for the development of this questionnaire. Next, we will measure the experiences of children during seven research procedures with this questionnaire. A one-month followup is conducted to investigate the emotional impact of the research procedures on the children. Children will be recruited from different research studies in three academic children's hospitals in the Netherlands. __Ethics and dissemination:__ The ethics committee of the VU University medical center evaluated both studies and indicated that there was no risk/discomfort associated, stating that both phases are exempt from getting

The development of the DISCO-RC for measuring children's discomfort during research procedures

Background: There is a need for data on children's self-reported discomfort in clinical research, helping ethics committees to make their evaluation of discomfort described in study protocols evidence-based. Since there is no appropriate instrument to measure children's discomfort during medical research procedures, we aimed to develop a generic, short and child-friendly instrument: the DISCO-RC questionnaire (DISCOmfort in Research with Children). Methods: This article describes the six steps of the development of the DISCO-RC. First, we updated a literature search on children's self-reported discomfort in clinical research to get insight in what words are used to measure discomfort (step 1). Subsequently, we interviewed 46 children (6-18years) participating in research to get insight into important forms of discomfort for children (step 2), and asked them about their preferred response option for measuring discomfort (step 3). Next, we consulted nine paediatric research professionals from various backgrounds for input on the content and feasibility of the DISCO-RC (step 4). Based on the previous steps, we developed a draft version of the DISCO-RC, which we discussed with the professionals. The DISCO-RC was then pretested in 25 children to ensure face-validity from the child's perspective and feasibility (step 5). Finally, validity, reliability and internal consistency were tested (step 6). Results: The search-update revealed several words used for measuring discomfort in research (e.g. 'worries', 'unpleasantness'). The interviews gave insight into important forms of discomfort for children in research (e.g. 'pain', 'boredom'). Children preferred a 5-point Likert scale as response option for the DISCO-RC. The experts recommended a short, digital instrument involving different forms of discomfort, and measuring discomfort of individual research procedures. Pretesting of the DISCO-RC resulted in a few layout changes, and feedback from the children confirmed the feasibility of the DISCO-RC. Convergent validity and test-retest reliability were acceptable. Internal consistency based on item-rest correlations and Cronbach's alpha were low, as expected. Conclusions: The DISCO-RC is a generic, practical and psychometrically sound instrument for measuring children's discomfort during research procedures. It contributes to make the evaluation of discomfort in paediatric research evidence-based. Therefore, we recommend including the DISCO-RC as standard component of paediatric research studies