Low quality of life found for children with juvenile Batten and their parents
Kids, adults face more emotional, behavioral issues than siblings without disease
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Children and adults with juvenile Batten disease face more emotional and behavioral issues and have a lower quality of life than their siblings without the inherited disorder, a new study from Norway has found.
Moreover, parents of those with juvenile Batten, also known as CLN3 disease and marked by seizures and progressive motor and cognitive decline, rated their own quality of life as low.
According to the researchers, “this study underscores the significant emotional and behavioral challenges faced by individuals with CLN3 Batten disease, which affect the quality of life for them and their parents.”
The team noted that “a severely reduced quality of life was reported for both affected individuals and their parents, while siblings scored within the normal range.”
“These findings emphasize the need for targeted interventions for both the patients and their families,” the scientists wrote.
Titled “Behavioral and emotional symptoms and quality of life in a national sample of individuals with CLN3 Batten disease,” the study was published in the Orphanet Journal of Rare Diseases.
Juvenile Batten disease is a rare pediatric neurodegenerative disease caused by mutations in the CLN3Â gene. Symptoms, typically emerging between ages 5 and 10, include progressive vision loss, seizures, movement problems, and cognitive issues.
Emotional and behavioral symptoms, including anxiety, depression, and aggression, are also common, but data on their prevalence and impact are lacking, according to the authors.
“There is a notable research gap concerning emotional and behavioral problems and QoL [quality of life] in individuals with CLN3 Batten disease, as well as QoL in their families,” the scientists wrote, adding further that no studies to date involved siblings as controls “to account for genetic predispositions to emotional and behavioral disorders, to enhance the validity of the findings.”
Questionnaires used to assess emotional, behavioral symptoms
Now, a team led by researchers at Oslo University Hospital aimed to bridge that knowledge gap. The researchers used standardized caregiver questionnaires to determine the frequency of emotional and behavioral symptoms among 20 people with juvenile Batten disease in the European nation. The patients ranged in age from 7 to 29.
In a measure of overall behavioral, emotional, and social functioning, the patients, on average, scored in the borderline clinical range, indicating scores around the cutoff that would raise clinical concern. Their mean scores were significantly higher, or worse, than those of their siblings without Batten.
The mean internalizing scores, which reflect problems directed to the self, such as anxiety, depression, or withdrawal, were at the high end of normal for those with juvenile Batten, but were still significantly elevated relative to the sibling control group.
This was also true of externalizing scores, which reflect problems directed toward others or the environment, such as aggression or rule-breaking.
In general, children with Batten — those ages 7-18 — exhibited more pronounced emotional and behavioral issues than adults ages 19-29. Among children, scores on most domains of these functional scales differed between patients and siblings. In adults, significant differences were seen on just two of the measures: thought problems and attention.
“This finding suggests that younger affected individuals may require more attentive monitoring and intervention of these symptoms,” the researchers wrote.
Across age groups, commonly reported challenges for Batten patients included attention demands, sleeping issues, and trouble concentrating. Speech problems also were common.
Despite familial challenges, parents reported strengths in their children, including humor, grit, and determination in those with Batten, and empathy and dutifulness among their siblings.
No sex differences were observed among either the children with Batten or their siblings.
Findings: Quality of life impaired for Batten children, OK for siblings
In parent-completed assessments, quality of life was substantially impaired for both parents and children with Batten. Sibling quality of life scores, meanwhile, were similar to those seen in the general Norwegian population.
That result may be surprising in light of other data showing that siblings of children with life-limiting conditions have a reduced quality of life. The researchers pointed out, however, that the assessments in this study were conducted by parents, who “may perceive siblings’ situations more positively than they would themselves.”
While no sex differences were observed, adults with Batten had lower life quality scores than children with the disease, which the researchers believe highlights the need for consistent and tailored care for people with juvenile Batten as they age and their abilities decline.
Overall, “this study offers valuable insights for clinicians and healthcare providers, emphasizing the importance of incorporating integrated psychiatric evaluations into … standard care practice,” the researchers wrote. The team added that evaluating the burden of juvenile Batten disease on parents and siblings is also “essential to providing adequate support for the entire family.”
Larger, long-term, international studies are ultimately needed to validate the findings and determine whether factors such as healthcare systems and cultural differences may influence results across different geographical regions, according to the scientists.
