Doesjka A. Hagenaar
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View article: Language comprehension assessment using the computer-based instrument for low motor language testing (C-BiLLT) in children with Angelman syndrome
Language comprehension assessment using the computer-based instrument for low motor language testing (C-BiLLT) in children with Angelman syndrome Open
Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder with intellectual disability, limited to no speech development, epilepsy, motor deficits, and behavioral issues. Children with AS generally demonstrate better language co…
View article: Age‐Related Trajectories of Autistic Traits in Children With Angelman Syndrome
Age‐Related Trajectories of Autistic Traits in Children With Angelman Syndrome Open
Angelman syndrome (AS) is a rare neurogenetic disorder. Previous studies indicate a high prevalence of autism spectrum disorder (ASD) with considerable variability. Little is known regarding the longitudinal trajectory of autistic traits. …
View article: Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1
Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1 Open
Studying Autism Spectrum Disorder (ASD) heterogeneity in biologically homogeneous samples may increase our knowledge of ASD etiology. Fragile X syndrome (FXS), Angelman syndrome (AS), Tuberous Sclerosis Complex (TSC), and Neurofibromatosis…
View article: Outcome measures in Angelman syndrome
Outcome measures in Angelman syndrome Open
View article: Child characteristics associated with child quality of life and parenting stress in Angelman syndrome
Child characteristics associated with child quality of life and parenting stress in Angelman syndrome Open
Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterised by severe intellectual disability, movement disorder, epilepsy, sleeping problems, and behavioural issues. Little is known on child health‐related qualit…
View article: Bone health in children with Angelman syndrome at the ENCORE Expertise Center
Bone health in children with Angelman syndrome at the ENCORE Expertise Center Open
Angelman 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. …
View article: Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome
Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome Open
Angelman 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 UBE3A ge…
View article: Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison
Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison Open
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 p…