Assessing the burden of MECP2 duplication syndrome on carers

MECP2 gene duplication syndrome is a progressive neurogenetic disorder that causes intellectual and motor impairments. Children with this syndrome are unable to live independently and are heavily reliant on carers and support staff, particularly their parents.

For carers, looking after a child with progressive disabilities can be very difficult due to the need to constantly adapt their care and the lack of adequate support.

Although they are very important, the comfort and well-being of carers are often not regarded as factors that can improve the health of those who are ill. Furthermore, by addressing the burden on carers, we could not only improve the health of this vulnerable patient population, but also the quality of life of their families, which would benefit society as a whole.

Dr Pehlivan and his team conducted the first study into the burden placed on carers and support workers of patients with MECP2 duplication syndrome. In their study, they first developed a scale to assess the impact of the constant challenges faced by carers and support workers. This scale was then used to identify the correlation between the symptoms of patients with the syndrome and the increased burden on carers and support staff. The study identified several factors that may contribute to the parental burden. The factors examined included financial burden, access to specialists, access to appropriate treatment, reduced life expectancy, delays in genetic testing, and challenges with family members and social life.

The study was carried out between September and November 2020 among 101 healthcare professionals from around the world, with patients with the syndrome ranging in age from 1 to 51 years.

The study showed that:

– Caring for a patient with MDS causes self-reported anxiety, emotional exhaustion and depression in carers. These feelings contribute to a high burden score.

– It has been shown that the occurrence of epileptic seizures in patients with MDS is responsible for an increase in the burden score. No significant burden was associated with constipation, infection, mobility, the age of the MDS patient or that of the carers, or the duration of care. However, it cannot be ruled out that the combination of all these specific symptoms or concerns may contribute to increasing the burden on carers.

– Although there are significant differences between healthcare systems, the geographical distribution of MDSs and their carers 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)

SUMMARY OF THE PUBLICATION

Background: MECP2 duplication syndrome (MDS) is a rare neurogenetic disorder characterised by severe neurodevelopmental impairment, refractory epilepsy, recurrent infections and functional gastrointestinal problems. Given the significant clinical challenges and lifelong disability faced by children with this condition, we hypothesised that the burden on the parents, carers and support staff of these children is considerable. However, there are no reports on the impact of this burden on carers of people with MECP2 gene duplication syndrome.

Methods: We have developed and validated a burden scale to investigate the challenges faced by carers of children and adults with the syndrome, and identified the factors contributing to the burden on carers. We have developed a patient register in accordance with the Health Insurance Portability and Accountability Act for families affected by the syndrome, and we have conducted a survey on the burden on carers using this register.

Results: Of the 237 completed questionnaires, 101 were eligible for the study. We identified increased levels of anxiety, depression and emotional exhaustion amongst carers, which correlated with higher burden scores. Epilepsy is the only clinical feature that results in a heavier burden for carers of people with the syndrome. The burden was higher amongst Hispanic carers. The duration of care is negatively correlated with the burden score.

Conclusions: This is the first study to examine the burden on carers of people with MDS syndrome and to identify various factors contributing to an increased burden. Addressing these concerns helps to improve the health of people with duplication syndrome and contributes to the well-being of their carers and support workers.