Central Coherence in Eating Disorders: A Synthesis of Studies Using the Rey Osterrieth Complex Figure Test

Background: Large variability in tests and differences in scoring systems used to study central coherence in eating disorders may lead to different interpretations, inconsistent findings and between study discrepancies. This study aimed to address inconsistencies by collating data from several studies from the same research group that used the Rey Osterrieth Complex Figure Test (Rey Figure) in order to produce norms to provide benchmark data for future studies. Method: Data was collated from 984 participants in total. Anorexia Nervosa, Bulimia Nervosa, recovered Anorexia Nervosa, unaffected family members and healthy controls were compared using the Rey Figure. Results: Poor global processing was observed across all current eating disorder sub-groups and in unaffected relatives. There was no difference in performance between recovered AN and HC groups. Conclusions: This is the largest dataset reported in the literature and supports previous studies implicating poor global processing across eating disorders using the Rey Figure. It provides robust normative data useful for future studies

The Amsterdam Studies of Acute Psychiatry - II (ASAP-II): a comparative study of psychiatric intensive care units in the Netherlands

Background The number of patients in whom mental illness progresses to stages in which acute, and often forced treatment is warranted, is on the increase across Europe. As a consequence, more patients are involuntarily admitted to Psychiatric Intensive Care Units (PICU). From several studies and reports it has become evident that important dissimilarities exist between PICU's. The current study seeks to describe organisational as well as clinical and patient related factors across ten PICU's in and outside the Amsterdam region, adjusted for or stratified by level of urbanization. Method/Design This paper describes the design of the Amsterdam Studies of Acute Psychiatry II (ASAP-II). This study is a prospective observational cohort study comparing PICU's in and outside the Amsterdam region on various patient characteristics, treatment aspects and recovery related variables. Dissimilarities were measured by means of collecting standardized forms which were filled out in the framework of care as usual, by means of questionnaires filled out by mental health care professionals and by means of extracting data from patient files for every consecutive patient admitted at participating PICU's during a specific time period. Urbanization levels for every PICU were calculated conform procedures as proposed by the Dutch Central Bureau for Statistics (CBS). Discussion The current study may provide a deeper understanding of the differences between psychiatric intensive care units that can be used to promote best practice and benchmarking procedures, and thus improve the standard of care

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Witteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, pediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients consented to participate in this study. Mean age of this cohort was 8.2 years (17 males, 11 females). Out of 16 patients ≥ eight years old assessed, eight (50%) had mild intellectual disability (ID), four had moderate ID (22%), and one had severe ID (6%). Four (25%) did not have any cognitive impairment. Other neurological symptoms such as seizures (4/28) and hypotonia (12/28) were common. Behaviour problems were reported in a minority. In patients ≥2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10-12.

Contrasting Views of the Post-bariatric Surgery Experience between Patients and their Practitioners: a Qualitative Study

© 2018, The Author(s). Background: The superiority of obesity surgery for improving medical and weight outcomes in severely obese patients when compared to other weight loss interventions remains undisputed. However, knowledge about the psychological impact of the procedure on patients’ lives is limited. Systematic reviews indicate persisting psychological distress after surgery compared to control groups especially longer term, suggesting the need for postoperative psychological support and assessment. Research literature also infers limited knowledge regarding the postoperative patient experience of obesity surgery. This may form a barrier in health practitioners’ understanding of these patients’ ongoing needs. Methods: Ten patients who had obesity surgery two or more years ago and eight obesity surgery practitioners were recruited within hospital settings and individually interviewed by the researcher to capture their accounts of the postoperative experience. Concordance between the two groups was explored to gauge awareness of patients’ subsequent health needs. Results: Thematic analysis of transcribed interviews elicited a key finding around ‘post-surgical cliffs in patient care’ within a heavily structured service. Participants reported some unmet needs, namely, psychological aftercare to facilitate adjustment following drastic weight loss and excess skin, acceptance of their non-obese self and perceived stigma. The impact of contrasting views of success between patients and practitioners on postoperative care within the service context was highlighted. Conclusions: Obesity surgery is a great weight loss catalyst for severe obesity. However, lack of psychological aftercare may threaten early gains in health outcomes over the longer term. More qualitative and quantitative studies are needed to validate current study results

The Human Phenotype Ontology in 2024: phenotypes around the world

\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

Eating Expectancies in Relation to Eating Disorder Recovery

This study examined the relation between eating expectancies, assessed via the Eating Expectancy Inventory, and eating disorder recovery. Individuals formerly seen for an eating disorder were categorized as having an active eating disorder (n = 53), as partially recovered (n = 15), or as fully recovered (n = 20). The expectancies of these groups were compared to each other and to 67 non-eating disorder controls. Results revealed that three of the five eating expectancies differed across groups. Non-eating disorder controls and fully recovered individuals endorsed similar levels of the expectancies that eating helps manage negative affect, eating is pleasurable and useful as a reward, and eating leads to feeling out of control. Partially recovered individuals looked more similar to active eating disorder cases on these expectancies. The other two expectancies did not differ across groups. Results provide some indication that certain eating expectancies may be associated with eating disorder recovery