Significance of Behavioural Problems on Family Impact in Angelman Syndrome: A Prospective Cross-Sectional Study.

Publication date: Jun 25, 2025

Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay, absence of expressive language, movement disorders, epilepsy, sleep problems and a range of behavioural abnormalities. The aim of the present study was to evaluate the role of behavioural problems of AS patients on the parental perception of quality of life. The German version of the Abberant Behaviour Checklist (ABC) was used to record the behavioural problems of the children and adolescents. The outcome variable parental impact was measured using the Familiy Impact module of the Pediatric Quality of Life Inventory (PedsQl Familiy impact). We used regression analyses to analyse the influence of behavioural problems on the parental impact as measured by. Additional data as genotype and epilepsy were further collected. The total cohort comprised 78 children and adolescents wit AS. Stereotypical behaviour ( .21) was the strongest predictor for increased parental impact followed by hyperactivity/noncompliance ( .14), irritability ( .11) and aberrant behaviour ( .11). Social withdrawal only affected the variables social functioning and family relationships. Inappropriate speech and genotype were not significant predictors. The presence of epilepsy affected family relationship but no other variables of parental functioning. Parents of AS patients with behavioural abnormalities might exhibit impaired quality of life scores. For the patients, behavioural training and drug therapy approaches should be considered. Concepts that focus on the parents comprises educational aspects with a focus on a consistent parenting style as well as improving coping strategies and activating resources.

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Concepts Keywords
Angelman Angelman syndrome
Autism Behavioral problems
German Epilepsy
Relationships Family burden
Stereotypical Genotype
Hyperactivity
Irritability
Quality of life
Social withdrawal
Stereotypies

Semantics

Type Source Name
disease MESH Angelman Syndrome
disease MESH movement disorders
disease MESH epilepsy
disease MESH abnormalities
drug DRUGBANK Abacavir
disease MESH Autism
disease MESH Syndrome
disease MESH gait
disease MESH clinical relevance
disease MESH chronic condition
disease MESH Uniparental disomy
drug DRUGBANK Adenosine
disease MESH Behavioral problems

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