The creation of the Global Scales for Early Development (GSED) for children aged 0-3 years: combining subject matter expert judgements with big data.

INTRODUCTION: With the ratification of the Sustainable Development Goals, there is an increased emphasis on early childhood development (ECD) and well-being. The WHO led Global Scales for Early Development (GSED) project aims to provide population and programmatic level measures of ECD for 0-3 years that are valid, reliable and have psychometrically stable performance across geographical, cultural and language contexts. This paper reports on the creation of two measures: (1) the GSED Short Form (GSED-SF)-a caregiver reported measure for population-evaluation-self-administered with no training required and (2) the GSED Long Form (GSED-LF)-a directly administered/observed measure for programmatic evaluation-administered by a trained professional. METHODS: We selected 807 psychometrically best-performing items using a Rasch measurement model from an ECD measurement databank which comprised 66 075 children assessed on 2211 items from 18 ECD measures in 32 countries. From 766 of these items, in-depth subject matter expert judgements were gathered to inform final item selection. Specifically collected were data on (1) conceptual matches between pairs of items originating from different measures, (2) developmental domain(s) measured by each item and (3) perceptions of feasibility of administration of each item in diverse contexts. Prototypes were finalised through a combination of psychometric performance evaluation and expert consensus to optimally identify items. RESULTS: We created the GSED-SF (139 items) and GSED-LF (157 items) for tablet-based and paper-based assessments, with an optimal set of items that fit the Rasch model, met subject matter expert criteria, avoided conceptual overlap, covered multiple domains of child development and were feasible to implement across diverse settings. CONCLUSIONS: State-of-the-art quantitative and qualitative procedures were used to select of theoretically relevant and globally feasible items representing child development for children aged 0-3 years. GSED-SF and GSED-LF will be piloted and validated in children across diverse cultural, demographic, social and language contexts for global use.

The Preventive Child and Youth Healthcare Service in the Netherlands: The State of the Art and Challenges Ahead.

The Netherlands has a unique system for promoting child and youth health, known as the preventive Child and Youth Healthcare service (CYH). The CYH makes an important contribution to the development and health of children and young people by offering (anticipatory) information, immunisation, and screening, identifying care needs and providing preventive support to children and their families from birth up to the age of 18 years. The CYH is offered free of charge and offers basic preventive care to all children and special preventive care to children who grow up in disadvantaged situations, such as children growing up in poverty or in a family where one of the members has a chronic health condition. Basic care is supported by 35 evidence-based guidelines and validated screening tools. Special care is supported by effective interventions. The impact of the CYH is high. It is estimated that every EUR 1 spent on the CYH provides EUR 11 back. Although the Dutch CYH is a solid public health system with a reach of up to 95% among young children, the access to this service could be further improved by paying more attention to health literacy, making special care available to all children in need and improving transmural and integrated care coordination. In addition, the generation of nationwide data could help to demonstrate the impact of the CYH and will direct and prioritise the necessary care. By continuously developing care on the basis of new (scientific) insights and (societal) issues, the CYH will continue to offer all children in the Netherlands the best preventive healthcare.

Development and validation of the Dutch version of the London Handicap Scale.

BACKGROUND: The London Handicap Scale (LHS) was found to be a valid and reliable scale for measuring participation restrictions in adults. OBJECTIVE: This paper describes the development and assesses the construct-related validity of a Dutch version of the London Handicap Scale (DLHS). METHODS: The DLHS was tested in 798 adults (mean age: 50.7 years, SD=14.5, range 16 to 85) and validated with the 'Impact on Participation and Autonomy' (IPA) questionnaire, the Dutch version of the EQ-5D and questions concerning comorbidity and use of medical devices. The study population consisted of patients with rheumatoid arthritis, chronic obstructive pulmonary disease (COPD), epilepsy, laryngectomy and multiple sclerosis. RESULTS: Feasibility was satisfactory. Large correlations (ρ > 0.6) for the DLHS sum score were found with the IPA subscales 'autonomy outdoors', 'perceiving problems', 'family role', autonomy indoors', 'work and education' and with the EQ-5D. The DLHS sum score differs significantly between subgroups based on the number of chronic diseases, number of medical devices and self-reported burden of disease or handicap (p< 0.001). CONCLUSIONS: Based on this evaluation the questionnaire seems feasible and valid for assessing differences in level of participation between subgroups of chronically ill or disabled persons in the Netherlands.

The attitudes and intention to participate in hemoglobinopathy carrier screening in The Netherlands among individuals from Turkish, Moroccan, and Surinamese descent.

OBJECTIVE: To explore factors that influence intention to participate in hemoglobinopathy (HbP) carrier screening under Dutch subjects at risk, since HbP became more common in The Netherlands. METHOD: Structured interviews with 301 subjects from Turkish, Moroccan, or Surinamese ethnicity. RESULTS: Half of the participants were familiar with HbP, 27% with carrier screening. Only 55% correctly answered basic knowledge items. After balanced information, 83% percent of subjects express intention to participate in HbP carrier screening. Intention to participate was correlated with (1) anticipated negative feelings, (2) valuing a physician's advice, and (3) beliefs on significance of carrier screening. Risk perception was a significant determinant, while respondents were unaware of HbP as endemic in their country of birth. Respondents preferred screening before pregnancy and at cost < 50€. CONCLUSION: These findings show the importance of informing those at risk by tailored health education. We propose easy access at no costs for those willing to participate in HbP carrier screening.

Problem behavior of individuals with Down syndrome in a nationwide cohort assessed in late adolescence.

OBJECTIVE: To assess problem behavior in adolescents with Down syndrome and examine the association with sex and severity of intellectual disability. STUDY DESIGN: Cross-sectional data of a Dutch nationwide cohort of Down syndrome children aged 16-19 years were collected using a written parental questionnaire. Problem behavior was measured using the Child Behavior Checklist and compared with normative data. The degree of intellectual disability was determined using the Dutch Social competence rating scale. RESULTS: The response rate was 62.8% (322/513), and the mean age 18.3 years (SD ± 0.8). The total score for problem behavior was higher in adolescents with Down syndrome than in adolescents without Down syndrome (26.8 vs 16.5; P < .001). Overall, 51% of adolescents with Down syndrome had problem scores in the clinical or borderline range on 1 or more Child Behavior Checklist subscales; this is more than twice as high as adolescents without Down syndrome. Adolescents with Down syndrome had more internalizing problems than their counterparts without Down syndrome (14% and 9%, respectively, in the clinical range); the percentages for externalizing problems were almost equal (7% and 9%, respectively, in the clinical range). The highest problem scores in adolescents with Down syndrome were observed on the social problems and thought problems subscales (large to very large standardized differences). Male sex and/or more severe mental disabilities were associated with more behavioral problems. CONCLUSIONS: Serious problem behavior is more prevalent in adolescents with Down syndrome. This demonstrates the need for a focus on general behavior improvement and on the detection and treatment of specific psychopathology in individuals with Down syndrome.

Ethnicity, educational level and attitudes contribute to parental intentions about genetic testing for child obesity.

The objective of this paper is to assess parental beliefs and intentions about genetic testing for their children in a multi-ethnic population with the aim of acquiring information to guide interventions for obesity prevention and management. A cross-sectional survey was conducted in parents of native Dutch children and children from a large minority population (Turks) selected from Youth Health Care registries. The age range of the children was 5-11 years. Parents with lower levels of education and parents of non-native children were more convinced that overweight has a genetic cause and their intentions to test the genetic predisposition of their child to overweight were firmer. A firmer intention to test the child was associated with the parents' perceptions of their child's susceptibility to being overweight, a positive attitude towards genetic testing, and anticipated regret at not having the child tested while at risk for overweight. Interaction effects were found in ethnic and socio-economic groups. Ethnicity and educational level play a role in parental beliefs about child overweight and genetic testing. Education programmes about obesity risk, genetic testing and the importance of behaviour change should be tailored to the cultural and behavioural factors relevant to ethnic and socio-economic target groups.

Ethnic differences and parental beliefs are important for overweight prevention and management in children: a cross-sectional study in the Netherlands.

BACKGROUND: The prevalence of obesity and overweight is highest among ethnic minority groups in Western countries. The objective of this study is to examine the contribution of ethnicity and beliefs of parents about overweight preventive behaviours to their child's outdoor play and snack intake, and to the parents' intention to monitor these behaviours. METHODS: A cross-sectional survey was conducted among parents of native Dutch children and children from a large minority population (Turks) at primary schools, sampled from Youth Health Care registers. RESULTS: Native Dutch parents observed more outdoor play and lower snack intake in their child and had stronger intentions to monitor these behaviours than parents of Turkish descent. In the multivariate analyses, the parents' attitude and social norm were the main contributing factors to the parental intention to monitor the child's outdoor play and snack intake. Parental perceived behavioural control contributed to the child's outdoor play and, in parents who perceived their child to be overweight, to snacking behaviour. The associations between parents' behavioural cognitions and overweight related preventive behaviours were not modified by ethnicity, except for perceived social norm. The relationship between social norm and intention to monitor outdoor play was stronger in Dutch parents than in Turkish parents. CONCLUSIONS: As the overweight related preventive behaviours of both children and parents did differ between the native and ethnic minority populations of this study, it is advised that interventions pay attention to cultural aspects of the targeted population. Further research is recommended into parental behavioural cognitions regarding overweight prevention and management for different ethnicities.

Accuracy of self-reported family history is strongly influenced by the accuracy of self-reported personal health status of relatives.

OBJECTIVE: We investigated the accuracy of self-reported family history for diabetes, hypertension, and overweight against two reference standards: family history based on physician-assessed health status of relatives and on self-reported personal health status of relatives. STUDY DESIGN AND SETTING: Subjects were participants from the Erasmus Rucphen Family study, an extended family study among descendants of 20 couples who lived between 1850 and 1900 in a southwest region of the Netherlands and their relatives (n=1,713). Sensitivity and specificity of self-reported family history were calculated. RESULTS: Sensitivity of self-reported family history was 89.2% for diabetes, 92.2% for hypertension, and 78.4% for overweight when family history based on relatives' self-reported personal health status was used as reference and 70.8% for diabetes, 67.4% for hypertension, and 77.3% for overweight when physician-assessed health status of relatives was used. Sensitivity and specificity of self-reported personal health status were 76.8% and 98.8% for diabetes, 38.9% and 98.0% for hypertension, and 80.9% and 75.7% for overweight, respectively. CONCLUSION: The accuracy of self-reported family history of diabetes and hypertension is strongly influenced by the accuracy of self-reported personal health status of relatives. Raising awareness of personal health status is crucial to ensure the utility of family history for the assessment of risk and disease prevention.

Can patient-reported outcome measures identify cancer patients' most bothersome issues?

PURPOSE: Patient-reported outcome (PRO) questionnaires are being investigated for their ability to aid in individual patient management. We evaluated whether PROs can identify patients' most bothersome quality-of-life issues and compared approaches for interpreting PRO scores. METHODS: This secondary data analysis included 130 patients with cancer (mean age, 57 years; 71% female) receiving outpatient palliative chemotherapy. Patients completed a PRO (European Organisation for Research and Treatment of Cancer Core Quality of Life Questionnaire [QLQ-C30]) at up to three consecutive visits and reported one or two of their most bothersome function and symptom issues from categories based on QLQ-C30 domains. We compared two approaches for interpreting PRO scores and identified which way better identified patients' most bothersome issues: worst scores in absolute terms or worst change from the previous time point. RESULTS: For patients reporting one bothersome issue, absolute scores identified it correctly 91% of the time for both function and symptoms versus change scores' accuracy of 40% for function and 26% for symptoms. For patients reporting two bothersome issues, absolute scores identified at least one correctly 98% of the time for both function and symptoms versus change scores' 63% for function and 62% for symptoms. Absolute scores identified both issues correctly 42% of the time for function and 66% of the time for symptoms versus change scores' performance of 23% for both function and symptoms. CONCLUSION: Absolute scores identify patients' most bothersome quality-of-life issues better than change scores. These results support the use of PROs in clinical practice and suggest that clinicians may want to focus on the worst absolute scores when examining PRO score reports.

Translational research in genomics of Alzheimer's disease: a review of current practice and future perspectives.

Alzheimer's disease (AD) is the most prevalent form of dementia and the number of cases is expected to increase exponentially worldwide. Three highly penetrant genes (AbetaPP, PSEN1, and PSEN2) explain only a small number of AD cases with a Mendelian transmission pattern. Many genes have been analyzed for association with non-Mendelian AD, but the only consistently replicated finding is APOE. At present, possibilities for prevention, early detection, and treatment of the disease are limited. Predictive and diagnostic genetic testing is available only in Mendelian forms of AD. Currently, APOE genotyping is not considered clinically useful for screening, presymptomatic testing, or clinical diagnosis of non-Mendelian AD. However, clinical management of the disease is expected to benefit from the rapid pace of discoveries in the genomics of AD. Following a recently developed framework for the continuum of translation research that is needed to move genetic discoveries to health applications, this paper reviews recent genetic discoveries as well as translational research on genomic applications in the prevention, early detection, and treatment of AD. The four phases of translation research include: 1) translation of basic genomics research into a potential health care application; 2) evaluation of the application for the development of evidence-based guidelines; 3) evaluation of the implementation and use of the application in health care practice; and 4) evaluation of the achieved population health impact. Most research on genome-based applications in AD is still in the first phase of the translational research framework, which means that further research is still needed before their implementation can be considered.

Health related quality of life of Dutch children: psychometric properties of the PedsQL in the Netherlands.

BACKGROUND: Knowledge about psychometric properties of the Pediatric Quality of Life Inventory (PedsQL) in the Netherlands is limited and Dutch reference data are lacking. Aim of the current study is to collect Dutch reference data of the PedsQL and subsequently assess reliability, socio-demographic within-group differences and construct validity. METHODS: In this study the PedsQL was administered to Dutch children aged 5 to 18 years. A socio-demographic questionnaire was completed as well. The sample consisted of three age groups: 5-7 years (parent proxy report), 8-12 years and 13-18 years (child self report). Analysis was performed with SPSS 16.0.2. A reliability analysis was done using Cronbach's alpha coefficient. Socio-demographic within-group differences were assessed by means of an ANOVA with post hoc Bonferroni correction and t-tests. Subsequently, construct validity was determined by t-tests and effect sizes. RESULTS: For 496 children PedsQL reference data were collected. PedsQL total scores were 84.18 (group 5-7), 82.11 (group 8-12) and 82.24 (group 13-18). Internal consistency coefficients ranged from .53 to .85. Socio-demographic within-group differences demonstrated that, in group 8-12, children of parents born in the Netherlands had significantly lower scores on several PedsQL subscales, compared to children of parents born in another country. With respect to construct validity, healthy children of group 5-7 and 13-18 scored significantly higher than children with a chronic health condition on all subscales, except for emotional functioning. In group 5-7, the PedsQL total score for healthy children was 85.31, whereas the same age group with a chronic health condition scored 78.80. Effect sizes in this group varied from 0.58 to 0.88. With respect to group 13-18, healthy children obtained a PedsQL total score of 83.14 and children suffering from a chronic health condition 77.09. Effect sizes in this group varied from 0.45 to 0.67. No significant differences were found in group 8-12 regarding health. CONCLUSION: The Dutch version of the PedsQL has adequate psychometric properties and can be used as a health related quality of life instrument in paediatric research in the Netherlands.

Family history of diabetes: exploring perceptions of people at risk in the Netherlands.

INTRODUCTION: The aim of this study was to explore the perceptions of causes, risk, and control with regard to diabetes and the role of family history among people at increased risk for type 2 diabetes. METHODS: Semistructured interviews were conducted among people aged 57 to 72 years with (n = 9) and without (n = 12) a family history of diabetes. RESULTS: Participants mentioned different causes for diabetes; these were often a combination of genetic and behavioral factors. Some participants with a family history expressed incoherent causal beliefs; their general ideas about the causes of diabetes did not explain why their relatives were affected. The role of genetics as a cause for diabetes was more pronounced when people perceived diabetes as "running in the family," and this finding did not necessarily relate to a high number of affected relatives. Although people with a family history were aware of the diabetes in their family, they did not always associate their family history with increased risk, nor did they worry about getting diabetes. The absence of diabetes in the family was often used as a reason to perceive a low risk. Participants who primarily perceived genetic predisposition as a cause felt less able to prevent getting diabetes. CONCLUSION: Future diabetes prevention strategies would benefit from giving more attention to individual perceptions, especially in the context of family history, explaining the multifactorial character of diabetes, and highlighting effective ways to reduce the risk.

Internet-based self-management offers an opportunity to achieve better asthma control in adolescents.

BACKGROUND: Internet and short message service are emerging tools for chronic disease management in adolescents, but few data exist on the barriers to and benefits of internet-based asthma self-management. Our objective was to reveal the barriers and benefits perceived by adolescents with well-controlled and poorly controlled asthma to current and internet-based asthma management. METHODS: Ninety-seven adolescents with mild-to-moderate persistent asthma monitored their asthma control on a designated Web site. After 4 weeks, 35 adolescents participated in eight focus groups. Participants were stratified in terms of age, gender, and asthma control level. We used qualitative and quantitative methods to analyze the written focus group transcripts. RESULTS: Limited self-efficacy to control asthma was a significant barrier to current asthma management in adolescents with poor asthma control (65%) compared to adolescents with good asthma control (17%; p < 0.01). The former group revealed the following several benefits from internet-based asthma self-management: feasible electronic monitoring; easily accessible information; e-mail communication; and use of an electronic action plan. Personal benefits included the ability to react to change and to optimize asthma control. Patients with poor asthma control were able and ready to incorporate internet-based asthma self-management for a long period of time (65%), whereas patients with good control were not (11%; p < 0.01). CONCLUSIONS: Our findings reveal a need for the support of self-management in adolescents with poorly controlled asthma that can be met by the application of novel information and communication technologies. Internet-based self-management should therefore target adolescents with poor asthma control.

Level of agreement between patient self-report and observer ratings of health-related quality of life communication in oncology.

OBJECTIVE: To determine the level of agreement between patients and observers regarding the frequency with which health-related quality of life topics are discussed during outpatient clinical oncology visits. METHODS: The sample (n=50) consisted of a consecutive series of cancer patients undergoing chemotherapy. Both the patients and observers used a checklist to report which HRQL topics had been discussed during the consultation. Percentage of agreement, kappa and adjust-kappa statistics were calculated. RESULTS: The percentage agreement between patients' and observers' ratings was generally high, ranging from 74% for fatigue to 96% for sleep problems and cognitive functioning. The average percentage of agreement over the 13 HRQL topics rated was 86%. Cohen's kappa varied between 0.41 (for pain) and 0.78 (for sleep problems). Prevalence-adjusted kappa's were generally higher, ranging from 0.48 (for fatigue) to 0.92 (for sleep problems and social functioning). The average Cohen's kappa and prevalence-adjusted kappa over the 13 HRQL topics were 0.56 and 0.71, respectively. Level of agreement was not found to vary significantly as a function of patients' background characteristics. CONCLUSION: Oncology patients' self-reports of the HRQL-related topics discussed during outpatient chemotherapy visits are in reasonably close agreement with those provided by observers. PRACTICE IMPLICATIONS: Our results indicate that the patient is a legitimate source of information about the HRQL-related content of medical encounters, and thus can be used in communication studies where the collection of observational data (e.g., via audio- or videotaping) is either too costly or logistically impractical.

Cost-effectiveness of pharmacogenomics in clinical practice: a case study of thiopurine methyltransferase genotyping in acute lymphoblastic leukemia in Europe.

Only a few studies have addressed the cost-effectiveness of pharmacogenetics interventions in healthcare. Lack of health economics data on aspects of pharmacogenetics is perceived as one of the barriers hindering its implementation for improving drug safety. Thus, a recent Institute for Prospective Technological Studies (IPTS) study, entitled 'Pharmacogenetics and pharmacogenomics: state-of-the-art and potential socio-economic impact in the EU' included an explorative cost-effectiveness review for a pharmacogenetic treatment strategy compared with traditional medical practice. The selected case study examined the cost-effectiveness of thiopurine methyltransferase (TMPT) genotyping prior to thiopurine treatment in children with acute lymphoblastic leukemia (ALL). Information for the cost-effectiveness model parameters was collected from literature surveys and interviews with experts from four European countries (Germany, Ireland, the Netherlands and the UK). The model has established that TPMT testing in ALL patients has a favorable cost-effectiveness ratio. This conclusion was based on parameters collected for TPMT genotyping costs, estimates for frequency of TMPT deficiency, rates of thiopurine-mediated myelosuppression in TPMT-deficient individuals, and myelosuppression-related hospitalization costs in each of the four countries studied. The mean calculated cost per life-year gained by TPMT genotyping in ALL patients in the four study countries was euro 2100 (or euro 4800 after 3% discount) based on genotyping costs of euro 150 per patient. Cost per life-year gained is expected to further improve following the introduction of the wider use of TMPT genotyping and the availability of lower cost genotyping methods. Our analysis indicates that TPMT genotyping should be seriously considered as an integral part of healthcare prior to the initiation of therapy with thiopurine drugs.

Modelling and estimation of valuations for the Dutch London Handicap Scale.

This paper presents a study to estimate a preference-based participation index from the Dutch London Handicap Scale (LHS) classification system that can be applied to past or future Dutch LHS data sets. A subset of 60 states were valued by a representative sample of 285 respondents of the Dutch general adult population. Different models were estimated for predicting health state valuations for all 46,656 states defined by the LHS. Several criteria were used for comparison of the different models and for arguing which one is the most preferred model to use. Our data showed that using the English index would give systematic errors for the Dutch population preferences.

Health-related quality-of-life assessments and patient-physician communication: a randomized controlled trial.

CONTEXT: There has been increasing interest in the use of health-related quality-of-life (HRQL) assessments in daily clinical practice, yet few empirical studies have been conducted to evaluate the usefulness of such assessments. OBJECTIVE: To evaluate the efficacy of standardized HRQL assessments in facilitating patient-physician communication and increasing physicians' awareness of their patients' HRQL-related problems. DESIGN: Prospective, randomized crossover trial. SETTING: Outpatient clinic of a cancer hospital in the Netherlands. PARTICIPANTS: Ten physicians and 214 patients (76% women; mean age, 57 years) undergoing palliative chemotherapy who were invited to participate between June 1996 and June 1998. INTERVENTION: At 3 successive outpatient visits, patients completed an HRQL questionnaire (European Organization for Research and Treatment of Cancer Quality of Life Questionnaire-Core 30). The responses were computer scored and transformed into a graphic summary. Physicians and patients received a copy of the summary before the consultation. MAIN OUTCOME MEASURES: Audiotapes of the consultations were content analyzed to evaluate patient-physician communication. Physicians' awareness of their patients' health problems was assessed by comparing physicians' and patients' ratings on the Dartmouth Primary Care Cooperative Information Functional Health Assessment (COOP) and the World Organisation Project of National Colleges and Academics (WONCA) charts. RESULTS: The HRQL-related issues were discussed significantly more frequently in the intervention than in the control group (mean [SD] communication composite scores: 4.5 [2.3] vs 3.7 [1.9], respectively (P =.01). Physicians in the intervention group identified a greater percentage of patients with moderate-to-severe health problems in several HRQL domains than did those in the control group. All physicians and 87% of the patients believed that the intervention facilitated communication and expressed interest in its continued use. CONCLUSION: Incorporating standardized HRQL assessments in daily clinical oncology practice facilitates the discussion of HRQL issues and can heighten physicians' awareness of their patients' HRQL.