Patient, parent life quality affected by emotional, sleep problems in AS
Researchers suggest efforts to tackle such issues be part of consultations
Emotional and behavioral problems are the symptoms of Angelman syndrome (AS) that most significantly predict lower life quality in children with the genetic disease, according to a study from the Netherlands.
Moreover, these issues — along with a child’s sleep problems — were found to have the greatest impact on parental caregivers’ personal time, anxiety, and stress.
The study’s researchers believe that interventions to improve life quality and reduce parental stress should target these symptoms using a family-centered approach.
“We suggest that tackling child behavioral and sleeping problems is likely to improve HRQoL [health-related quality of life] of the whole family and that these problems should be a regular subject of each consultation in AS,” the team wrote.
The study, “Child characteristics associated with child quality of life and parenting stress in Angelman syndrome,” was published in the Journal of Intellectual Disability Research.
Investigating the impact of AS symptoms on patient, parent life quality
A rare neurodevelopment disease, Angelman syndrome is caused by reduced activity of the maternally-inherited UBE3A gene. That gene’s activity, or expression, is particularly important for brain health.
Different types of genetic problems can lead to Angelman, also called AS, but a deletion of a stretch of DNA containing the UBE3A gene is the most common — and is often thought to lead to more severe disease.
Individuals with AS experience a range of symptoms, including severe developmental delays, language problems, movement disorders, seizures, sleep issues, and behavioral or mood disturbances.
The oftentimes great burden of these symptoms, and the loss of independence that can result, can have a substantial impact on the HRQoL, or health-related quality of life, of these patients.
While early studies interpreted the hallmark smiling and laughing behaviors of AS patients to mean good life satisfaction, others have since indicated a diminished life quality for adolescent and adult patients.
Moreover, managing the symptoms of AS can significantly impact the lives of patients’ parents, leading to high levels of stress.
Still, little is known about how AS specifically impacts life quality for pediatric patients and their parents — and which, if any, specific features of the disease are most influential in this regard.
To learn more, a team of researchers in Rotterdam examined clinical and life quality data from children with AS and their parents. The data were routinely collected at the researchers’ outpatient AS clinic.
“Our goal is to increase knowledge on this important and understudied topic, in order to contribute to better care and guidance of children with AS and their families,” the researchers wrote.
Life quality of children found to be ‘exceptionally low’ to ‘low average’
The analysis concerned 73 children with AS and their parents. The children had a mean chronological age of 9.1 years (range, 2-18 years), but a mean cognitive developmental age of 16 months, or a little younger than 1.5 years. More than half of the children (60%) had a deletion of the maternal UBE3A gene.
When compared with healthy children in general, these AS youth and adolescents experienced greater than average amounts of both sleeping issues and behavioral and emotional problems.
The patients’ life quality and the impact of the condition on their parents were evaluated using the parent-reported Infant and Toddler Quality of Life Questionnaire. Parental stress levels were measured with the parent-reported Parenting Stress Index.
The results showed that patients’ HRQoL was classified as “exceptionally low” to “low average” relative to healthy children according to the questionnaire.
Emotional and behavioral problems were the strongest predictor of diminished life quality for children with Angelman. This appeared to be largely driven by internalizing problems, or experiencing emotional issues such as feeling anxious or depressed.
Other factors significantly linked to a lower life quality included older age and having a deletion of the maternal UBE3A gene as the cause of disease.
“This is the first study investigating the relation between child characteristics and child HRQoL in AS, showing that child emotional/behavioral problems, [genetic profile] and age are significant predictors,” the researchers wrote.
Study’s findings may be ‘valuable’ for future research, clinical practice
Parents too were found to be significantly affected by their children’s disease, with the average impact of AS on the parent deemed “exceptionally high,” and parental stress classified as “above average.”
The only significant predictor of a greater impact of the child’s AS on the parent in a model used by researchers was the sleep problems experienced by the child. “More sleeping problems related to a higher impact,” the team wrote.
However, the child’s emotional and behavioral issues were the strongest predictor of parental stress, with more of these problems being associated with more parenting stress.
Other clinical factors — such as cognitive development, disease-related autism, and seizures — were not significantly linked to the children’s life quality, nor the disease’s impact on parents, or parental stress.
“These findings are valuable for future research and clinical practice,” the researchers wrote, suggesting that measures of life quality and parental stress should be used in clinical trials and routine patient care.
Because child behavior problems and parenting stress reinforce each other in a bidirectional manner, interventions should focus on both the child and the parents (and the rest of the family) in a systemic approach.
The team did note that the scales used in this study were not specifically tailored for Angelman patients. Future research should target more disease-specific metrics, according to the authors.
Information gained from these evaluations can help inform the development of new interventions to improve life quality for patients and caregivers, according to the team.
“Because child behavior problems and parenting stress reinforce each other in a bidirectional manner, interventions should focus on both the child and the parents (and the rest of the family) in a systemic approach,” the researchers wrote.
About the Author
