A5078966384- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Family and Disability Support Research
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Child Nutrition and Feeding Issues
- Prenatal Screening and Diagnostics
- Child Development and Digital Technology
- Mental Health and Patient Involvement
- Genomics and Rare Diseases
- COVID-19 and Mental Health
- Attention Deficit Hyperactivity Disorder
- Genomics and Chromatin Dynamics
- Genetic Syndromes and Imprinting
- Mental Health and Psychiatry
- Urticaria and Related Conditions
- Schizophrenia research and treatment
- Behavioral and Psychological Studies
- Health, psychology, and well-being
- Child and Adolescent Psychosocial and Emotional Development
- Obsessive-Compulsive Spectrum Disorders
- Ethics and bioethics in healthcare
- Neurogenetic and Muscular Disorders Research
- Risk Perception and Management
- Disaster Management and Resilience
Lentis
2012-2025
University Medical Center Groningen
2011-2025
University of Groningen
2011-2024
University of Aruba
2009-2012
Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder characterised by hypotonia, speech problems, intellectual disability and mental health issues like regression, autism mood disorders. In the development, implementation dissemination of new clinical guideline for genetic PMS, parental experienced perspective essential. As information from literature scarce often conflicting European consortium created multi-lingual survey parents individuals with PMS to collect their lived...
Phelan-McDermid syndrome is a rare genetic condition caused by deletion encompassing the 22q13.3 region or pathogenic variant of gene SHANK3. The clinical presentation variable, but main characteristics include global developmental delay/intellectual disability (ID), marked speech impairment delay, along with other features like hypotonia and somatic psychiatric comorbidities. This publication delineates mental health, behavioural themes across lifetime individuals PMS as informed...
The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on organization for individuals with PMS. We indicate that should consider domains, which can be done within framework International Classification Functioning, Disability Health (ICF). This assesses disability functioning as outcome individual's interactions other factors. different roles care, such...
The aim of this study was to examine paternal age in relation risk autism spectrum disorders (ASDs) a setting other than the industrialized west.A case-control Aruban-born children (1990-2003). Cases (N = 95) were identified at Child and Adolescent Psychiatry Clinic, only such clinic Aruba; gender matched controls 347) gathered from public health records. Parental defined categorically (≤ 29, 30-39, 40-49, ≥ 50 y). analysis made, using conditional logistic regression.Advanced associated with...
Abstract Background Ultrarare Marshall–Smith and Malan syndromes, caused by changes of the gene nuclear factor I X ( NFIX ), are characterised intellectual disability (ID) behavioural problems, although questions remain. Here, development behaviour studied compared in a cross‐sectional study, results presented with genetic findings. Methods Behavioural phenotypes eight individuals Marshall‐Smith syndrome (three male individuals) seven (four individuals). Long‐term follow‐up assessment...
To study autism outside of a narrow range settings previously studied, and in particularly distinctive setting the Caribbean. The aim Aruba Autism Project was to determine prevalence spectrum disorders (ASDs) birth years 1990-1999 Aruba. A record review conducted; cases were ascertained from children treated at Child & Adolescent Psychiatry Clinic Aruba, first only child psychiatry service on island. In these 10 we found for autistic disorder (AD) 1.9 per 1,000 (95% CI 1.2-2.8) 5.3 4.1-6.7)....
Social cognitive difficulties in Autism Spectrum Disorder (ASD) can affect the daily lives of people with ASD profoundly, impacting development and maintenance meaningful social relations. cognition training (SCT) is commonly used for improving functioning, but lacks ecological validity ability to effectively mimic situations. Development virtual reality (VR) interventions, focusing on enhancing cognition, could add effectiveness SCT within care, by offering a safe, interactive practical...
Background Personal recovery is operationalized in the CHIME framework (connectedness, hope, identity, meaning life, and empowerment) of processes. was initially developed through analysis experiences people mainly with psychosis, but it might also be valid for investigating mood-related, autism other diagnoses.
Background Marshall–Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of group patients, we noticed unusual behavioural traits. This urged us study cognition, phenotype autism in six patients. Methods Information on development, characteristics, symptoms, adaptive psychological functioning MSS children was collected through in-person...
Development and behaviour in Cornelia de Lange Syndrome (CdLS), including autism characteristics, have been described infrequently stratified to genetic cause only a few studies considered behavioural characteristics relation developmental level. Here, we describe the phenotype individuals with CdLS SMC1A variants.We performed an international, interdisciplinary study on 51 variants. Results of questionnaire are compared those Down Autism Spectrum Disorder. cognition self-injurious (SIB)...
For decades, the Netherlands has experienced minor earthquakes due to gas extraction. This study aims obtain insight into experiences of adolescents and impact these on their well-being living environment. Focus groups were held with 24 adolescents, interviews 3 (N = 27; M 15 years). Through qualitative analysis, we identified six themes. The shared anxiety related consequences considered be a normal part life. Anxiety feelings endangerment not only own but also connected social environment,...
Background Phelan-McDermid syndrome (PMS) or 22q13.3 deletion is a rare genetic disorder characterized by developmental delay, hypotonia and severely delayed speech. Behavioral difficulties are often reported in PMS, although knowledge of behavioral profiles the interpretation behavior remains limited. Understanding meaning requires considering context as well other domains functioning, for example individual's level cognitive, social emotional development. Combining structured direct...
This study aims to compare the experiences of women and men different age groups with regard their first autism spectrum disorder (ASD) diagnosis, symptoms, treatment, gender roles inform our understanding in clinical practice differences as well similarities. Semi-structured interviews were conducted amongst 22 (n = 12) 10) three adult regarding diagnostic process, roles. Participants also filled out questionnaires on traits, social support, coping, quality life. Framework analysis...
Objective: Methods for characterizing mental health recovery narratives are needed to enable the selection of helpful which can support processes other people. The Inventory Characteristics Recovery Stories (INCRESE) is an existing English-language tool characterize narratives, not available in Dutch. aims this study were create a Dutch translation INCRESE and evaluate feasibility sustained routine use, as well its validity reliability.
 Research design methods: was translated into...
Getting 'stuck', literally and figuratively, is a common experience for autistic people. Literally 'stuck' means exhibiting limited response initiation due to immobility with tense muscles inability move. Figuratively loneliness, passivity or captivity in activities that do not offer long-term satisfaction. To further conceptualize this complex phenomenon of individuals, we performed qualitative interviews focus groups people their family members, followed by brainstorm sessions Delphi study...