MECP2 duplication syndrome (MDS) is a progressive neurogenetic disorder with both intellectual and motor disabilities. Children with the syndrome cannot live independently and highly rely on caregivers and in particular on their parents.
For the latter, taking care of a child with progressive disabilities can be very challenging due to both the constant adaptation of cares and lack of adequate support.
Although very important, the well-being of caregivers is often not regarded as a parameter to improve health of individual with MDS. In addition, the addressing caregivers’ burden could not only improve the health of this vulnerable patient population but would also improve the quality of life of their families, which would be of benefit to the whole society.
For the first time, Dr. Pehlivan and his team studied the burden of caregivers of patients with MECP2 duplication syndrome. They first established a burden scale to evaluate the effects of the constant challenges faced by caregivers. This burden scale was used to identify the correlation between MDS features and increased burden. The researchers identified several factors that could contribute to the parental burden and evaluated their impact with the burden scale. The factors investigated included financial well-being, access to experts, appropriate treatment, shortened life expectancy, delay in genetic testing and challenges with family members and social life.
The study carried out between September and November 2020 included 101 caregivers worldwide. MDS patients age varied from 1- to 51-years-old.
The study showed that:
– Caring for patients with MDS causes self-perceived anxiety, emotional exhaustion and depression in caregivers. These feelings contribute to the high burden score.
– It was shown that the burden score increases with the presence of epilepsy in the MDS patient. No significant burden was associated with constipation, infection, mobility, age of the MDS patient or care givers or duration of care. However, although the scientists attempted to identify specific symptoms or concerns, it cannot be dismissed that the combination of all these factors contribute to the caregiver’s burden.
– Although there are significant differences between health care systems, the geographical distribution of MDS and their care givers did not influence the burden score.
Assessing the Burden on Caregivers of MECP2 Duplication Syndrome D. Pehlivan et al. Pediatr. Neurol. 2022 Aug;133:1-8 (10.1016/j.pediatrneurol.2022.05.008)
PUBLICATION ABSTRACT
Background: MECP2 duplication syndrome (MDS) is a rare neurogenetic disorder characterized by severe neurodevelopmental disorder, refractory epilepsy, recurrent infections, and functional gastrointestinal problems. Because of the significant clinical problems and lifelong disability of children with this disorder we hypothesized that the burden on parents/caregivers of these children is significant. However, there are no reports of the impact on caregivers of individuals with MDS.
Methods: We developed and validated a burden scale to investigate the challenges of caregivers of children and adults with MDS and identified factors contributing to the burden on caregivers. We developed a Health Insurance Portability and Accountability Act-compliant patient registry for families with MDS and delivered a caregiver burden survey through the registry.
Results: Of 237 completed surveys, 101 were eligible for the study. We identified increased levels of self-perceived anxiety, depression, and emotional exhaustion in caregivers that correlated with higher burden scores. Epilepsy was the only clinical feature that caused a higher burden in caregivers of individuals with MDS. In addition, a higher burden was found in Hispanic caregivers. The duration of care negatively correlated with burden score.
Conclusions: This is the first study to investigate the burden on caregivers of individuals with MDS and identify several factors contributing to increased burden. Addressing these concerns has the potential to improve the health of individuals with MDS and contribute to the well-being of their caretakers.
