A5013497268- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Family and Disability Support Research
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Attention Deficit Hyperactivity Disorder
- Genomics and Chromatin Dynamics
- Dutch Social and Cultural Studies
- Child Nutrition and Feeding Issues
- Behavioral and Psychological Studies
- Hedgehog Signaling Pathway Studies
- Child and Adolescent Psychosocial and Emotional Development
Lentis
2017-2023
University Medical Center Groningen
2022-2023
University of Groningen
2023
SMC1A encodes one of the proteins cohesin complex. variants are known to cause a phenotype resembling Cornelia de Lange syndrome (CdLS). Exome sequencing has allowed recognizing in individuals with encephalopathy epilepsy who do not resemble CdLS. We performed an international, interdisciplinary study on 51 for physical and behavioral characteristics, compare results those 67 NIPBL variants. For Netherlands all were studied, both without CdLS phenotype. Individuals can CdLS, but...
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...
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...
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...
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)...
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...
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...
Based on literature research, focus groups and in-depth interviews, it was found that behavioral problems in adolescents young adults with autism spectrum disorder were associated an interrelated complex of factors at the micro, meso macro level. This – as described detail this article gives rise to a process because which population cannot optimally participate society regarding several areas, such school work. To prevent declining process, sustainable, multi-sectorial approach is needed....
The present essay describes genderidentification in autism spectrum disorder, as well disorder gender variation or dysphoria. Authors argue the importance of determining individual’s social and emotional development before conferring meaning deciding on potentially irreversible treatment trajectories.