PRADER-WILLI SYNDROME IN A SWEDISH RURAL COUNTY: EPIDEMIOLOGICAL ASPECTS

The total population under 25 years of age in one rural county in Sweden was screened in an attempt to find all cases of Prader-Willi syndrome and to establish prevalence rates for the disorder. 11 clear and five suspect cases were found. For the seven- to 25-year-old age-group the prevalence was 13 per 100,000 for clear cases only, but 20 per 100,000 if borderline cases were included. There was a slight over-representation of males, but it was possible that this was a result of under-representation of females in the very young age-groups, in whom hypogonadism may be difficult to diagnose.     

The Swedish Version of the Diagnostic Interview for Social and Communication Disorders (DISCO-10). Psychometric Properties

Psychometric properties of the Diagnostic Interview for Social and Communication Disorders schedule (DISCO) have only been studied in the UK. The authorised Swedish translation of the tenth version of the DISCO (DISCO-10) was used in interviews with close relatives of 91 Swedish patients referred for neuropsychiatrical assessment. Validity analysis compared DISCO-10-algorithm diagnoses with clinical diagnoses and with Autism Diagnostic Interview Revised (ADI-R) algorithm diagnoses in 57 cases. Good-excellent inter-rater reliability was demonstrated in 40 cases of children and adults. The criterion validity was excellent when compared with clinical diagnoses and an investigator-based diagnostic interview. The DISCO-10 has good psychometric properties. Advantages over the ADI-R include valuable information of the broader autism phenotype and co-existing problems for clinical practice and research.     

Validation of the Autism Spectrum Screening Questionnaire in a Total Population Sample

There is a lack of instruments validated for screening of autism spectrum disorders (ASD) in general populations and primary care settings. The Autism Spectrum Screening Questionnaire (ASSQ) has previously been shown to have good screening properties in clinical settings. We used the ASSQ to screen a total population of 7–9 year-olds (N = 9430) for ASD in the Bergen Child Study. Parents and teachers filled in the ASSQ, and high-scorers were invited for clinical assessment, along with a large group of screen negative children. We found that the ASSQ was well suited as a general population screen. Combining parent and teacher ASSQ and using cut-off score of ≥17 provided the most efficient screen with sensitivity of 0.91 and specificity of 0.86.     

Asperger Syndrome and Autism: A Comparative Longitudinal Follow-Up Study More than 5 Years after Original Diagnosis

Prospective follow-up study of 70 males with Asperger syndrome (AS), and 70 males with autism more than 5 years after original diagnosis. Instruments used at follow-up included overall clinical assessment, the Diagnostic Interview for Social and Communication Disorders, Wechsler Intelligence Scales, Vineland Adaptive Behavior Scales, and Global Assessment of Functioning Scale. Specific outcome criteria were used. Outcome in AS was good in 27% of cases. However, 26% had a very restricted life, with no occupation/activity and no friends. Outcome in the autism group was significantly worse. Males with AS had worse outcomes than expected given normal to high IQ. However, outcome was considerably better than for the comparison group of individuals with autism.     

What are the qualitative experiences of people affected by kidney failure receiving haemodialysis?

Background

People affected by kidney failure receiving haemodialysis experience complexity within their health condition unlike any other chronic illness or condition. Kidney failure impacts the individual in all areas of their life including relationships and activities of daily living.

Objective

To conduct a meta-aggregation of studies about the lived experiences of people with kidney failure receiving haemodialysis.

Design

Using PRISMA Guidelines, six databases (CINAHL, ClinicalTrials.gov , Cochrane Library, MEDLINE, PsycINFO, and Scopus) were comprehensively searched using keywords and subject headings from January 1990 to October 2021. Articles were assessed according to prespecified eligibility criteria. Data extraction and quality appraisal was conducted. A meta-aggregation of qualitative findings was conducted using the Joanna Briggs Institute methodology for meta-aggregation.

Results

Of the 9409 articles screened, 55 studies were included. This represented a total of 188 findings across 45 categories representing a range of unmet supportive care needs. The meta-aggregation identified 11 synthesised findings broadly related to psychological/emotional needs, physical needs, social needs, interpersonal/intimacy needs, patient-clinician communication needs, family related needs, health system/information needs, spiritual needs, daily living needs, practical needs and daily living needs.

Conclusions

This meta-aggregation has identified that people affected by kidney failure can experience a range of unmet supportive care needs. It was evident that living with kidney failure and receiving haemodialysis impacted a person's sense of self, introduced practical needs and other complex needs which were not being addressed in existing services. This review has highlighted important implications for clinical practice and future research directions.     

Ageing appearance in China: biophysical profile of facial skin and its relationship to perceived age

Background Perceived age is important to women and is a primary driver for topical product use and facial cosmetic surgery. Changes in facial features and biophysical skin parameters with chronological age and their associations with perceived age have not been described in Asian populations. Objective To investigate the relationship between biophysical properties of the skin, visual features of skin ageing and perceived facial age in Chinese women. Methods Facial photographs were collected of 250 Chinese women, aged 25–70 years in Shanghai, China. The perceived facial age was determined and related to the chronological age for each participant and to a range of visual assessments of skin appearance and objective biophysical measurements of the skin. The profile of changes in these parameters with age was investigated together with the differences in those parameters for women judged to look younger than their chronological age and those judged to look older than their chronological age. Results Large discrepancies in perceived age (up to 29 years) were found in women of the same chronological age. Each objective skin measure and visual assessment parameter had a stronger correlation with perceived age than with chronological age. The strongest relationships to perceived age were for wrinkles and hyperpigmentation. Skin colour, hydration and trans‐epidermal water loss (TEWL) had weaker associations with perceived age. Women judged to look older than their chronological age had significantly higher scores than those judged to look younger for coarse wrinkles and hyperpigmentation across all age groups. The appearance differences between these groups were evident in composite facial images of the same average chronological age. Conclusions We have identified the skin attributes which differ with perceived age in Chinese women. Perceived age is a better measure of the biological age of facial skin than is chronological age in this population.     

Facial emotion recognition in child psychiatry: A systematic review

This review focuses on facial affect (emotion) recognition in children and adolescents with psychiatric disorders other than autism. A systematic search, using PRISMA guidelines, was conducted to identify original articles published prior to October 2011 pertaining to face recognition tasks in case–control studies. Used in the qualitative synthesis were: 2 studies on schizophrenia, 18 on mood disorders, 16 on anxiety disorders, 4 on eating disorders, 14 on ADHD and 9 on conduct disorder.Our review suggests that there are abnormalities in facial emotion recognition in a wide range of child psychiatric disorders and that these are likely to have a negative effect on both family and peer relationships. Scope for further research has been identified.     

Effects of patient deaths by suicide on clinicians working in mental health: A survey

In the UK, at least a quarter of suicides occurs in patients whilst under the care of mental health services. This study investigated the effects of such deaths on non-medical mental health clinicians. An online survey was conducted within a single NHS mental health Trust to elicit both quantitative and qualitative responses from staff across a range of professions. The survey focused on personal and professional impacts and available support. Participants reported significant negative emotional and professional effects that were long-lasting for some. These included mental health difficulties, loss of confidence regarding clinical responsibilities, and actual or contemplated career change. However, there was also some evidence of positive effects and professional growth. Support from colleagues and line managers is clearly important following deaths of patients by suicide. Clinicians' experiences of the support they had received in the workplace were polarized, suggesting that there is no single nor ideal approach that will meet everyone's needs. Participants made recommendations for the types of support that may be helpful. Most commonly, clinicians desired opportunities for focused reflection and support and help with the formal processes following the death. Sensitivity around how clinicians are notified about the death was highlighted as being particularly important. Conclusions are drawn as to how training institutions and employers can help staff to be better prepared for the potential occurrence of patient suicides and the formal processes that follow, with a view to mitigating risks of more serious harm to staff and hence indirectly to patients, and potential loss of highly trained clinicians to the workforce.