A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health

Abstract

As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations or large deletions were associated with greater severity. Early regression was also associated with greater severity. All three were associated with lower current abilities. Epilepsy and weight, gastrointestinal and bowel problems were common co-morbidities. Participants with classic RTT had greater health problems than those with atypical RTT. A substantial minority of respondents reported fairly frequent signs of possible pain experienced by their relative with RTT. Overall, the study provides new data on the current abilities and general health of people with RTT and adds to the evidence that the severity of the condition and variation of subsequent disability, albeit generally within the profound range, may be related to gene mutation. The presence of certain co-morbidities represents a substantial ongoing need for better health. The experience of pain requires further investigation.

MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats

“…Rodents’ teeth grow continuously and require constant gnawing to maintain normal wear. Malocclusion may have indirectly resulted from a change in the animals’ ability or desire to feed due to global MeCP2 absence, a feature that might parallel the gastrointestinal autonomic dysfunction and feeding difficulties observed in girls and boys with RTT (48,75,76). Alternatively, malocclusion may directly result from MeCP2 absence in the peripheral tissues related to tooth development and growth; however, given that decelerated weight gain seemed to precede tooth lengthening and the time course of this feature’s development varied significantly, it seems as though the former may be the more probable explanation.…”

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

“…Slightly higher prevalences of breath-holding (76.9%) and hyperventilation (58.2%) were reported in a smaller ( n  = 91) and slightly older (4–47 years, mean 20.5 years) Italian population [28]. Conversely, parent-report studies with older (≥16 years, n  = 53) [27] or exclusively adult populations (>18 years, n  = 146) [7] reported lower prevalence of hyperventilation (49.3 and 39%, respectively) in their samples.…”

“…Although progress continues to be made towards understanding the mechanisms underlying the abnormal respiratory patterns [8, 18, 21–25], estimates of prevalence for these features have only been reported in relatively small samples ( n  < 150) and range widely between 58 and 94% for breath-holding [7, 10–12, 26–28] and 26 and 100% for hyperventilation [7, 10–12, 26–28]. Breath-holding and hyperventilation have been reported to occur in girls 7 years of age and younger ( n  = 47 [9], n  = 12 [29]).…”

Change over a 16-month period in the psychological well-being of mothers of girls and women with Rett syndrome

“…The survey methodology is described in greater detail in Cianfaglione, Clarke, Kerr, Hastings, Oliver et al [20], and the procedure for gathering data from mothers about their psychological well-being is described in full in Cianfaglione et al [5].…”