Article title
Downs, J, Geranton, SM, Bebbington, A, Jacoby, P, Bahi-Buisson, N, Ravine, D & Leonard, H 2010, 'Linking MECP2 and pain sensitivity: the example of Rett syndrome', American Journal of Medical Genetics Part A, vol. 152A, no. 5, pp. 1197-205. Download snapshot, see article abstract.
Background
Girls and women with Rett syndrome may have altered sensitivity to pain. We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life. We also investigated how pain sensitivity related to specific MECP2 mutations.
What we did
For this study, we combined information from 646 families participating in the Australian Rett Syndrome study or InterRett. We then examined the proportion of girls and women reported to have altered pain sensitivity, and how age and mutation type might influence this.
What we found
We found that approximately two thirds of girls and women with Rett syndrome were considered less sensitive to pain whilst just over 6% were considered more sensitive to pain. Girls who were between 6-11 years old were more likely to have an abnormal response to pain, compared to those in other age groups. Those with a C-terminal deletion, p.R168X or a p.R306C mutation were also more likely to be less sensitive to pain.
Many girls and women seemed to have higher tolerance for "external" pain such as in relation to falls, immunisations and blood draws. On the other hand, some seemed to be more sensitive to "internal" pain such as abdominal pain or headaches.
What does it mean
Higher tolerance for pain can mean that many girls and women may not react to some painful situations such as immunisations and blood draws, and injuries such as fractures or burns may be less quickly spotted. Clinicians need to be aware of this when examining a girl or woman with Rett syndrome to determine if an injury has occurred.