MECP2 Duplication Syndrome, Pain, and the Least Dangerous Assumption

trap-33819_640New research from China suggests that MECP2 duplication syndrome may result in reduced pain responses. This will not come as a surprise to parents, health care professionals, or others with considerable experience with children and adults with MECP2 duplication syndrome. Many individuals with MECP2 duplication appear quite stoical when experiencing things that would cause considerable pain to other people.

This study by Zhang and colleagues came out a couple of weeks ago. It is an important topic and a good study. Since it is published in an open access journal anyone with access to the internet can read the study. Nevertheless, it is important to interpret and read this study with caution.

For the most part , this study is based on the responses of MECP2 Duplication Syndrome mice to painful stimuli, although the researchers go into some more specific neurological underpinnings for their findings. There are two reasons that I would argue for caution. First, the researchers suggest that the overexpression of MeCP2 results in reduced pain response, but they also point out that similar reduced expression of pain have been found in Rett syndrome, the underexpression of MeCP2. If both these things are true, it certainly suggests the relationship between MeCP2 and pain has to be more complex than MECP2 simply inhibiting pain.

The second concern, however, is a bigger one. When we see someone undergo what appears to be a painful stimulus and have little or no obvious expression of pain, we can explain this in two possible ways. First, we can imagine that they do not feel pain. Second, we can imagine that they feel pain but do not express their in a way that is obvious to us. While the first explanation may seem like the more obvious one, history tells us that it has frequently been wrong. For example, until fairly recently it was widely believed that newborn babies and most people with autism and intellectual disabilities were “insensitive to pain.” As a result of this belief, infants and people with autism or intellectual disabilities were often denied pain management and allowed to suffer in silence. More recent research has demonstrated that much of this apparent insensitivity to pain was due to the inability to communicate pain responses. So when it is not clear whether individuals are experiencing pain, we as parents, caregivers, and healthcare professionals need to decide which assumption we will make. Do we assume that they don’t suffer pain and deny pain management or do we assume they experience pain much like other people would and provide treatment to minimize pain?

The best answer is generally to make the “least dangerous assumption,” to assume that pain management needs to be provided as long as there is little risk associated with using it. It is the least dangerous assumption since it does not risk letting the individual suffer simply because we cannot interpret his or her expression of pain.

Zhang, R., Huang, M., Cao, Z., Qiiu, J., Qiu, Z., & Chiang, L.-Y. (2015). MeCP2 plays an analgesic role in pain transmission through regulating CREB / miR-132 pathway. Molecular Pain, 11(19). doi:10.1186/s12990-015-0015-4

Allely, C. S. (2013). Pain sensitivity and observer perception of pain in individuals with autistic spectrum disorder. Scientific World Journal, 2013, 916178.

Downs J, Géranton SM, Bebbington A, Jacoby P, Bahi‐Buisson N, Ravine D, et al.: Linking MECP2 and pain sensitivity: the example of Rett syndrome.Am J Med Genet A 2010, 152(5):1197-205.

Oberlander, T. F., O’Donnell, M. E., & Montgomery, C. J. (1999). Pain in children with significant neurological impairment. Journal of Developmental and Behavioral Pediatrics, 20(4), 235-243.

Oberlander T. F. & Symons F. J. (eds) (2006) Pain in Children & Adults with Developmental Disabilities. Paul Brookes Publishing Co., Baltimore, MD.

Oberlander T. F., Symons F., Van Dongen K. & Abu-Saad H. H. (2003) Pain in individuals with developmental disabilities: challenges for the future. Progress in Pain Research and Management 24, 705–23.


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