Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

The aim of this article is to review the national regulations and practices of genetic counselling in 38 European countries, and to examine how well they intersect the ideals of genetic counselling defined in international guidelines. Using an electronic survey, representatives of the National Societies of Human Genetics in 29 countries, and appropriate contact persons for the field of genetic counselling in 9 other countries, were asked about the regulations and practices. The answers showed that consent, confidentiality, genetic counselling in the context of prenatal diagnosis, those professionals who may perform genetic counselling, and non-directiveness were the topics most often either agreed upon among professionals or regulated in those countries. These are also among the key aspects of ideal genetic counselling, based on international guidelines. Counselling in the context of susceptibility testing for multifactorial diseases, counselling people from ethnic minorities and recontacting the counsellees, on the contrary, were topics regulated or guided by generally applied practices in only few countries. Many of the answers expressed a desire for more regulation of genetic counselling, and that more uniform practices of education and organization of genetic counselling would be welcome in Europe.     

What is ideal genetic counselling? A survey of current international guidelines

The objective of this article is to review guidelines that address counselling in the context of genetic testing in order to summarise what aspects of counselling they consider most important, and to examine how they construct the ideal of genetic counselling. Guidelines were collected by examining the websites of different international professional, political, ethical and patient organisations, either previously known or found with the help of the Google search engine, and also using references listed in other studies. The most frequently mentioned topics in the collected 56 guidelines were sought, and this was carried out with the software package Qualitative Solutions and Research for Non-numerical Unstructured Data Indexing Searching and Theorizing. Topics related to genetic counselling that were mentioned in at least 30 of 56 collected documents were considered to be the most important aspects of genetic counselling. The ideal of genetic counselling is expressed in the analysed guidelines as being composed of (1) an appropriately trained professional who understands genetics and its ethical implications well; (2) relevant and objective information; (3) assurance of the counsellee's understanding; (4) psychological support; (5) informed consent; (6) confidentiality of genetic information; (7) considering familial implications; (8) appropriate handling of potential discrimination of testing; and (9) assuring autonomous decision-making by the counsellee. The ideal of genetic counselling is rather consistent in the guidelines, but there are some contradictions between the requirements of objective information-giving and adapting counselling to counsellee's circumstances.     

Birth size and childhood growth as determinants of physical functioning in older age: the Helsinki Birth Cohort Study

The study reports on the associations of infant and childhood anthropometric measurements, early growth, and the combined effect of birth weight and childhood body mass index with older age physical functioning among 1,999 individuals born in 1934-1944 and belonging to the Helsinki Birth Cohort Study. Physical functioning was assessed by the Short Form 36 scale. Anthropometric data from infancy and childhood were retrieved from medical records. The risk of lower Short Form 36 physical functioning at the mean age of 61.6 years was increased for those with birth weight less than 2.5 kg compared with those weighing 3.0-3.5 kg at birth (odds ratio (OR) = 2.73, 95% confidence interval (CI): 1.57, 4.72). The gain in weight from birth to age 2 years was associated with decreased risk of lower physical functioning for a 1-standard deviation increase (OR = 0.84, 95% CI: 0.75, 0.94). The risk of lower physical functioning was highest for individuals with birth weight in the lowest third and body mass index at 11 years of age in the highest third compared with those whose birth weight was in the middle third and body mass index at age 11 years was in the highest third (OR = 3.08, 95% CI: 1.83, 5.19). The increasing prevalence of obesity at all ages and the aging of populations warrant closer investigation of the role of weight trajectories in old age functional decline.     

Reliability and validity of the SPAID-G checklist for detecting psychiatric disorders in adults with intellectual disability

SPAID (Psychiatric Instrument for the Intellectually Disabled Adult) is the first Italian tool-package for carrying out psychiatric diagnosis in adults with Intellectual Disabilities (ID). It includes the “G” form, for general diagnostic orientation, and specific checklists for all groups of syndromes stated by the available classification systems. SPAID was established to provide an easy and quick tool for daily practice of the personnel working with ID. The present study was aimed at evaluating psychometric and psychodiagnostic characteristics of the SPAID-G and at supplying new data on the prevalence rate of psychiatric disorders in a multicentric Italian sample of people with ID living in different settings. The SPAID-G was randomly applied to 304 participants with ID attending residential facilities or assessment services across Italy. A part of the sample was also consecutively assessed through the use of DASH, PDD-MRS and by the clinical application of the DSM-IV TR criteria. The correlation between SPAID-G scores and those provided by other evaluation tools was over 60%. Additionally, the internal consistency and inter-rater reliability resulted to be good. Psychopathological symptoms were detected in approximately 40% of the sample. Respectively, autistic spectrum disorders, impulse control disorders, mood disorders, and dramatic personality disorders were the diagnostic orientations providing the most prevalent over-threshold scores. SPAID-G seems to be a valid diagnostic tool, quick and easy to use in psychiatric disorders assessment within the Italian population with ID.     

Life resources and personal goals in old age

It has been theorized that life resources influence goal engagement. The aim of the present study was to examine whether personal characteristics, and socio-economic, social and health resources are associated with personal goal content in old age. The participants were 824 community-dwelling people aged 75–90 from the Life-Space Mobility in Old Age project. Personal goals were elicited using a revised version of the Personal Project Analysis in a structured interview. Cross-sectional bi- and multivariate analyses using logistic regression modelling were conducted. The results showed that the most commonly reported goals were health maintenance related. People with better health resources were more likely to report goals related to leisure-time, social and physical activities and less likely to report goals related to recovery of health. Those with poor social resources were at risk for having no personal goals in their lives. The results are in line with theorizing on the influence of life resources on goal setting in old age. Further longitudinal studies are needed on whether resource loss precedes goal modification, and how goal setting strategies influence both mental and physical well-being in old age.     

Self‐rated health,symptoms and health behaviour of upper secondary vocational students by field of study

This article examines the self‐rated health, symptoms and health behaviour of upper secondary vocational students in Finland. The data consist of the responses of first‐ and second‐year vocational students (n = 34 554) to the 2013 School Health Promotion Survey. The data were analysed statistically and processed separately for girls and boys. Associations between self‐rated health, symptoms and health behaviour and fields of study were examined by cross‐tabulation. Statistical significance was measured using the chi‐squared test. Self‐rated health, symptoms and health behaviour were found to have a statistically significant association with field of study (p < 0.001). Vocational students in different fields had different experiences of health, different symptoms and different health behaviours. The results complement existing evidence about disparities in well‐being among young people in the context of education.     

Adolescent depression: the role of discontinuities in life course and social support

OBJECTIVE: To study sociodemographic determinants of depression among 14-16 years old girls and boys, and the role of perceived social support in mediating the effects of the background variables. METHOD: 16464 adolescents aged 14-16 participated the School Health Promotion Study, a survey about health, health behaviour and school behaviour. Depression was measured by the Finnish modification of the 13-item Beck Depression Inventory. Moderate to severe symptoms in this scale were recorded as depression. RESULTS: Depression was associated with family structure in both sexes. Among girls, having moved recently and low parental education increased the risk for depression, among boys, unemployment in the family. Accumulating number of discontinuities in life course increased the proportion of the depressed among both girls and boys. Perceived lack of social support had the same effect. Lack of support did not explain the effect on depression of the discontinuities in life course. CONCLUSION: To detect risk groups for adolescent depressive disorders, health services should pay attention to adolescents who have experienced life changes. Perceived social support should be enquired.     

Muscle strength according to level of physical exercise and educational background in middle-aged women in Finland

Summary The aim of this study was to examine the role of socio-economic status and the practice of physical exercise in explaining variation in muscle strength in 50 to 60-year-old women. Consequently, four study groups combining education and physical activity were formed: (1) university education, physically active; (2) university education, sedentary; (3) vocational or lower level of education, physically active; (4) vocational or lower level of education, sedentary. Maximal isometric strength of hand grip, arm flexion, body flexion and extension as well as dynamic power of the abdominal muscles were measured in 112 women. The results of the maximal isometric strength measurements were standardised by body mass index. The means of the maximal isometric strength results and sit-up tests were compared between the groups using two-way analysis of variance. The physically active women performed better than the sedentary in both the isometric and dynamic tests. Greater muscle strength was also found among the more highly educated compared with the less educated. The less educated sedentary women showed the poorest performance in the strength tests.     

Analysis of 3D Prints by X-ray Computed Microtomography and Terahertz Pulsed Imaging

Purpose

A 3D printer was used to realise compartmental dosage forms containing multiple active pharmaceutical ingredient (API) formulations. This work demonstrates the microstructural characterisation of 3D printed solid dosage forms using X-ray computed microtomography (XμCT) and terahertz pulsed imaging (TPI).

Methods

Printing was performed with either polyvinyl alcohol (PVA) or polylactic acid (PLA). The structures were examined by XμCT and TPI. Liquid self-nanoemulsifying drug delivery system (SNEDDS) formulations containing saquinavir and halofantrine were incorporated into the 3D printed compartmentalised structures and in vitro drug release determined.

Results

A clear difference in terms of pore structure between PVA and PLA prints was observed by extracting the porosity (5.5% for PVA and 0.2% for PLA prints), pore length and pore volume from the XμCT data. The print resolution and accuracy was characterised by XμCT and TPI on the basis of the computer-aided design (CAD) models of the dosage form (compartmentalised PVA structures were 7.5?±?0.75% larger than designed; n?=?3).

Conclusions

The 3D printer can reproduce specific structures very accurately, whereas the 3D prints can deviate from the designed model. The microstructural information extracted by XμCT and TPI will assist to gain a better understanding about the performance of 3D printed dosage forms.