Search results for "Counseling"

Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

2020

X-linked intellectual disability (XLID) is a genetically heterogeneous condition involving more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine specific demethylase 5C (KDM5C) gene. KDM5C variants are one of the major causes of moderate to severe XLID. Affected males present with short stature, distinctive facial features, behavioral disorders, epilepsy, and spasticity. For most of these variants, related female carriers have been reported, but phenotypic descriptions were poor. Here, we present clinical and molecular features of 19 females carrying 10 novel heterozygous variants affecting KDM5C function, including five probands with de novo variants. Four h…

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

2016

International audience; The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvula…

The Role of Next-Generation Sequencing in the Diagnosis of Lysosomal Storage Disorders

2016

Next-generation sequencing (NGS) panels are used widely in clinical diagnostics to identify genetic causes of various monogenic disease groups including neurometabolic disorders and, more recently, lysosomal storage disorders (LSDs). Many new challenges have been introduced through these new technologies, both at the laboratory level and at the bioinformatics level, with consequences including new requirements for interpretation of results, and for genetic counseling. We review some recent examples of the application of NGS technologies, with purely diagnostic and with both diagnostic and research aims, for establishing a rapid genetic diagnosis in LSDs. Given that NGS can be applied in a w…

Development and Validation of an Italian Adaptation of the Psychosocial Aspects of Hereditary Cancer Questionnaire

2021

Individuals that attend cancer genetic counseling may experience test-related psychosocial problems that deserve clinical attention. In order to provide a reliable and valid first-line screening tool for these issues, Eijzenga and coworkers developed the Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire. The aim of this work was to develop an Italian adaptation of the PAHC (I-PACH). This prospective multicenter observational study included three stages: (1) development of a provisional version of the I-PAHC; (2) pilot studies aimed at testing item readability and revising the questionnaire; and (3) a main study aimed at testing the reliability and validity of the final version …

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

2019

IF 2.004 (2017); International audience; With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate. A review of the literature was performed, focusing on all PubMed articles repo…

Preventive and Therapeutic Role of Muscle Contraction Against Chronic Diseases.

2016

Background: Due to the continuing increase of the elderly population in the western countries, the prevalence of the main chronic diseases (obesity, type 2 diabetes and related metabolic disorders, arterial hypertension, vascular damage due to atherosclerotic process, cancer, chronic obstructive pulmonary disease, neurodegenerative diseases, chronic kidney disease, immune-mediated diseases) is increasing. There is incontrovertible evidence that regular physical activity contributes to the primary and secondary prevention of several chronic diseases and is associated with a reduced risk of premature death. Methods: In this review the most prevalent chronic pathologic conditions are discussed…

Pathways of care for HIV infected children in Beira, Mozambique: pre-post intervention study to assess impact of task shifting

2018

Abstract Background In 2013, Mozambique implemented task-shifting (TS) from clinical officers to maternal and child nurses to improve care for HIV positive children < 5 years old. A retrospective, pre-post intervention study was designed to evaluate effectiveness of a new pathway of care in a sample of Beira District Local Health Facilities (LHFs), the primary, local, community healthcare services. Methods The study was conducted by accessing registries of At Risk Children Clinics (ARCCs) and HIV Health Services. Two time periods, pre- and post-intervention, were compared using a set of endpoints. Variables distribution was explored using descriptive statistics. T-student, Mann Whitney and …

Wow! They really like celeriac! Kindergarten teachers' experiences of an intervention to increase 1-year-olds' acceptance of vegetables

2021

Abstract Exposure to varied foods in early life is important for short- and long-term health and development. Strategically introducing toddlers to new vegetables is not a common practice in Norwegian kindergartens. Therefore, we developed, conducted, and evaluated a web-based cluster randomised kindergarten intervention, Pre-schoolers’ Food Courage 2.0. The purpose of the current qualitative study was to explore kindergarten teachers' experience of implementing this intervention and what they thought facilitated the positive impact of the intervention reported in the quantitative evaluation. Ten individual telephonic interviews with kindergarten teachers who took part in the intervention s…

ASSOCIATION BETWEEN LEISURE TIME PHYSICAL ACTIVITY LEVEL AND ARTICULAR CARTILAGE IN POSTMENOPAUSAL WOMEN WITH MILD KNEE OSTEOARTHRITIS: A 12-MONTH FO…

2016

Enhancing daily living skills in four adults with autism spectrum disorder through an embodied digital technology-mediated intervention

2019

Abstract Background The acquisition of daily living skills is fundamental in the education of people with Autism Spectrum Disorder (ASD), especially of those with Intellectual Disability (ID), because this can significantly contribute to their autonomy, self-confidence and overall life satisfaction. The purpose of this study was to assess the impact of an embodied Digital Technology (DT)-mediated intervention, compared to a Treatment-As-Usual (TAU) intervention, for enhancing two daily living skills: washing dishes and doing laundry. Method Four males of between 25 and 37 years old with ASD and ID participated in the study. The two interventions were based on audio and picture prompting ins…