Exploring the Multifaceted Burdens and Experiences of Parents With a Child Diagnosed With Anorexia Nervosa: A Psychological Network Analysis.

Objective: Parents of children diagnosed with anorexia nervosa (AN) are facing multiple burdens when caring for their child. This study uses a psychological network approach to identify central factors among parental caregiving burdens and experiences which then can constitute promising targets for caregiver interventions.

Method: A total of 348 parents (247 mothers, 101 fathers) of children diagnosed with AN (96% female, 90% restrictive type) provided data including parental psychopathology, eating-disorder related burden, high-expressed emotion and perceived caregiver skills at baseline and after having participated in a parental skills training, multi-family therapy or systemic family therapy.

The Influence of Lifestyle on Male Fertility in the Context of Insulin Resistance-Identification of Factors That Influence Semen Quality.

: Male fertility is known to have been negatively influenced by the progress of civilization. Another condition whose incidence has been on the increase for the same reason is insulin resistance (IR). In addition, men increasingly often resign from the pursuit of active forms of leisure, preferring more sedentary ones.

Therapeutic drug monitoring in adolescents with anorexia nervosa for safe treatment with adjunct olanzapine.

Objective: Medication is commonly used in anorexia nervosa (AN) despite largely missing high grade evidence. Olanzapine (OLZ) is the best-evidenced substance used off-label in this group, with conflicting outcome regarding BMI, clinical and safety parameters. Therefore, it is important to strictly assure quality of treatment with OLZ in AN by using 'Therapeutic Drug Monitoring' according to AGNP-guidelines, including serum levels and adverse drug reactions (ADRs) to support safety for adolescents with AN and attempt to generate an initial age- and disorder-specific therapeutic reference range.

An investigation of the factor structure of a German version of the Eating Disorder Symptom Impact Scale (EDSIS) among parents of adolescents and young adults with anorexia nervosa.

The aim of this study was to explore the factor structure, scale characteristics and convergent validity of a German version of the Eating Disorder Symptom Impact Scale (EDSIS). A total of 335 parents of adolescents and young adults with anorexia nervosa in inpatient or outpatient treatment completed the 24-item German translation of the EDSIS and other measures of caregiving burden and psychological distress. We tested a 4 vs.

Exploring the link between eating disorders and persistent genital arousal disorder/genito-pelvic dysesthesia: first description and a systematic review of the literature.

Background: Persistent Genital Arousal Disorder/Genito-Pelvic Dysesthesia (PGAD/GPD) characterized by recurrent physiological genital without corresponding psychological arousal is a poorly understood and researched condition. Based on the first two case descriptions of eating disorders directly linked to PGAD/GPD the aim of this paper was to systematically review the literature on possible associations between eating disorders and PGAD/GPD.

Method: A systematic literature search on eating disorders and PGAD/GPD was conducted in PubMed, PsycINFO, and Scopus, complemented by Google Scholar.

Impact of COVID-19 Lockdown in Eating Disorders: A Multicentre Collaborative International Study.

Background: The COVID-19 lockdown has had a significant impact on mental health. Patients with eating disorders (ED) have been particularly vulnerable.

Aims: (1) To explore changes in eating-related symptoms and general psychopathology during lockdown in patients with an ED from various European and Asian countries; and (2) to assess differences related to diagnostic ED subtypes, age, and geography.

Does a Skills Intervention for Parents Have a Positive Impact on Adolescents' Anorexia Nervosa Outcome? Answers from a Quasi-Randomised Feasibility Trial of SUCCEAT.

Skills trainings for caregivers of patients with anorexia nervosa (AN) have been proven to be effective in improving caregiver skills and reducing caregivers' psychopathology. The effects on patients, especially adolescents, are largely unknown. The aim of this study was to evaluate the effectiveness of a caregivers' skills training program (Supporting Carers of Children and Adolescents with Eating Disorders in Austria, SUCCEAT, workshop or online version) on adolescents with AN delivered as workshops (WS) or online (ONL).

A German version of the Caregiver Skills scale for caregivers of patients with anorexia nervosa.

Objective: To investigate acceptance, reliability, convergent validity, factor structure and sensitivity to change of a German translation of the Caregiver Skills (CASK) scale measuring skills related to caring for patients with eating disorders.

Methods: Two hundred and thirty-three parents (76% female) of adolescent patients (mean age 15.1) with anorexia nervosa (AN) completed the 27 items of the CASK.

Reduction of High Expressed Emotion and Treatment Outcomes in Anorexia Nervosa-Caregivers' and Adolescents' Perspective.

High expressed emotion (EE) is common in caregivers of patients with anorexia nervosa (AN) and associated with poorer outcome for patients. In this study, we examined the prevalence of high EE in caregivers of adolescents with AN and analyzed predictors for EE using multivariate linear regression models. We further analyzed whether EE is reduced by the "Supporting Carers of Children and Adolescents with Eating Disorders in Austria" (SUCCEAT) intervention using general linear mixed models and whether a reduction of EE predicts patients' outcomes.

Long-Term Efficacy of the Workshop Vs. Online SUCCEAT (Supporting Carers of Children and Adolescents with Eating Disorders) Intervention for Parents: A Quasi-Randomised Feasibility Trial.

Interventions for main carers of adult patients with anorexia nervosa (AN) can reduce the caregiving burden and increase caregiver skills. However, the effectiveness and feasibility for carers of adolescent patients, the optimal form of the intervention and long-term outcomes are largely unknown. We evaluated the efficacy and feasibility of the "Supporting Carers of Children and Adolescents with Eating Disorders in Austria" (SUCCEAT) workshop vs.

Supporting Carers of Children and Adolescents with Eating Disorders in Austria (SUCCEAT): Study protocol for a randomised controlled trial.

Supporting Carers of Children and Adolescents with Eating Disorders in Austria (SUCCEAT) is an intervention for carers of children and adolescents with anorexia nervosa and atypical anorexia nervosa. This paper describes the study protocol for a randomised controlled trial including the process and economic evaluation. Carers are randomly allocated to one of the 2 SUCCEAT intervention formats, either 8 weekly 2-hr workshop sessions (n = 48) or web-based modules (n = 48), and compared with a nonrandomised control group (n = 48).

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.

Constitutional SMARCB1 mutations at 22q11.23 have been found in ∼50% of familial and <10% of sporadic schwannomatosis cases. We sequenced highly conserved regions along 22q from eight individuals with schwannomatosis whose schwannomas involved somatic loss of one copy of 22q, encompassing SMARCB1 and NF2, with a different somatic mutation of the other NF2 allele in every schwannoma but no mutation of the remaining SMARCB1 allele in blood and tumor samples.

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.

Huntington's disease (HD) is a neurodegenerative disorder characterized by motor, cognitive, and behavioral disturbances. It is caused by the expansion of the HTT CAG repeat, which is the major determinant of age at onset (AO) of motor symptoms. Aberrant function of N-methyl-D-aspartate receptors and/or overexposure to dopamine has been suggested to cause significant neurotoxicity, contributing to HD pathogenesis.

Duplication of C7orf58, WNT16 and FAM3C in an obese female with a t(7;22)(q32.1;q11.2) chromosomal translocation and clinical features resembling Coffin-Siris Syndrome.

We characterized the t(7;22)(q32;q11.2) chromosomal translocation in an obese female with coarse features, short stature, developmental delay and a hypoplastic fifth digit. While these clinical features suggest Coffin-Siris Syndrome (CSS), we excluded a CSS diagnosis by exome sequencing based on the absence of deleterious mutations in six chromatin-remodeling genes recently shown to cause CSS.

Exploring community gardens in a health disparate population: findings from a mixed methods pilot study.

Background: Despite recommendations, there have been few efforts to apply the community-based participatory research (CBPR) approach in the development, implementation, and evaluation of community gardens.

Objectives: As guided by the CBPR approach and grounded in a social-ecological model and behavioral theory, the purpose of this mixed methods study was to understand opinions and interests in developing and implementing a community garden and to understand factors impacting fruit, vegetable, and gardening behaviors.

Methods: Community and academic members collaborated to develop and execute this study.

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease.

Huntington's disease is a neurodegenerative disorder caused by an expanded CAG trinucleotide repeat whose length is the major determinant of age at onset but remaining variation appears to be due in part to the effect of genetic modifiers. GRIK2, which encodes GluR6, a mediator of excitatory neurotransmission in the brain, has been suggested in several studies to be a modifier gene based upon a 3' untranslated region TAA trinucleotide repeat polymorphism. Prior to investing in detailed studies of the functional impact of this polymorphism, we sought to confirm its effect on age at onset in a much larger dataset than in previous investigations.

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

Age at the onset of motor symptoms in Huntington disease (HD) is determined largely by the length of a CAG repeat expansion in HTT but is also influenced by other genetic factors. We tested whether common genetic variation near the mutation site is associated with differences in the distribution of expanded CAG alleles or age at the onset of motor symptoms. To define disease-associated single-nucleotide polymorphisms (SNPs), we compared 4p16.

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

Objective: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.

Interstitial deletions of the long arm of chromosome 6 are relatively rare, with fewer than 100 cases reported. Phenotypic variation is in large part due to differences in size and location of the segmental aneuploidy. We report three new patients with interstitial deletions of chromosome 6q defined at the molecular level by array comparative genomic hybridization (array CGH).

Speech and language delay are early manifestations of juvenile-onset Huntington disease.

The neurocognitive features of juvenile-onset Huntington disease (HD) are not well understood. We present three patients with onset of HD symptoms before age 10 years in whom speech delay was the first symptom. Speech delay predated motor symptoms by at least 2 years, and language function was consistently impaired on formal testing.

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study.

Background: Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD age at onset. To identify modifier genes, we recently reported a whole-genome scan in a sample of 629 affected sibling pairs from 295 pedigrees, in which six genomic regions provided suggestive evidence for quantitative trait loci (QTL), modifying age at onset in HD.

Methods: In order to test the replication of this finding, eighteen microsatellite markers, three from each of the six genomic regions, were genotyped in 102 newly recruited sibling pairs from 69 pedigrees, and data were analyzed, using a multipoint linkage variance component method, in the follow-up sample and the combined sample of 352 pedigrees with 753 sibling pairs.