Publications by authors named "Doesjka A Hagenaar"
Article Synopsis
- Studying Autism Spectrum Disorder (ASD) in genetically similar groups can enhance our understanding of its causes, as seen in conditions like Fragile X syndrome and Tuberous Sclerosis Complex, which frequently display ASD symptoms.
- The research gathered data from several hundred children and adolescents with these genetic disorders, using standardized assessments to uncover distinct profiles of ASD symptomatology.
- The findings revealed four different symptom profiles based on two separate assessment tools, emphasizing the individualized nature of ASD presentations in these populations and the need for tailored management strategies.
Background: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and weight gain. The characteristics of AS make it difficult to measure these children's functioning with standard clinical tests. Feasible outcome measures are needed to measure current functioning and change over time, in clinical practice and clinical trials.
View Article and Find Full Text PDFAngelman syndrome (AS) is a rare genetic disorder due to lack of UBE3A function on chromosome 15q11.2q13 caused by a deletion, uniparental paternal disomy (UPD), imprinting center disorder (ICD), or pathological variant of the UBE3A gene. AS is characterized by developmental delay, epilepsy, and lack of speech.
View Article and Find Full Text PDFAngelman Syndrome (AS) is a rare genetic disorder caused by lack of maternal UBE3A protein due to a deletion of the chromosome 15q11.2-q13 region, uniparental paternal disomy, imprinting center defect, or pathogenic variant in the gene. Characteristics are developmental delay, epilepsy, behavioral, and sleep problems.
View Article and Find Full Text PDFBackground & Aims: Air-Displacement-Plethysmography (ADP) by BOD POD is widely used for body fat assessment in children. Although validated in healthy subjects, studies about use in pediatric patients are lacking. We evaluated user experience and usability of ADP measurements with the BOD POD system in healthy children and pediatric and young adult patients.
View Article and Find Full Text PDFIntroduction: Emotion processing deficits often occur in patients with schizophrenia. We investigate whether patients and controls differ in the association between facial emotion recognition and experience of affective empathy and whether performance on these emotion processing domains differently relates to white matter connectivity.
Materials And Methods: Forty-seven patients with schizophrenia and 47 controls performed an emotion recognition and affective empathy task.
Objective: The etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in symptoms across individuals. This study compares ASD symptomatology between monogenetic syndromes with a high ASD prevalence, in order to reveal syndrome specific vulnerabilities and to clarify how genetic variations affect ASD symptom presentation.
Methods: We assessed ASD symptom severity in children and young adults (aged 0-28 years) with Fragile X Syndrome (FXS, = 60), Angelman Syndrome (AS, = 91), Neurofibromatosis Type 1 (NF1, = 279) and Tuberous Sclerosis Complex (TSC, = 110), using the Autism Diagnostic Observation Schedule and Social Responsiveness Scale.