About the Survey
This survey was undertaken to determine the perceptions of parents or caregivers regarding regression in individuals with MECP2 Duplication Syndrome. The purpose of the study was to supplement the information provided in the study by Peters and colleagues in 2013. It differed from the published study in several important respects.
First, the Peters study measured regression more precisely: this study simply asked parents for their opinion based on brief definitions of (a) regression in verbal skills and (b) other areas of regression. Second, this survey included both males and females, a wider age rage, and a larger number of respondents. Finally, participants self-selected into this study and there was no independent verification of the diagnosis of the individuals for whom data was provided. As a result, the results of this survey cannot be directly compared with the results of the Peters study, although the results are generally consistent with it.
The survey collected data on 57 individuals. Information on two individuals was discarded, one because it was an apparent duplicate submission, one because it included unusable data. The remaining 55 surveys were included in this analysis.
Fifty-thee boys and two girls were included in the analysis. The age range was from 3 to 30+. Children under three were not included in the survey because it was considered unlikely that regression could be reliably observed in this group. The data collection form listed ages as specific years 3 through 29 but listed 30+ for anyone 30 years old or older. One individual was in the 30+ category and that individual’s age was included simply as 30 for determining a mean age. The Mean age was 10.93 and the median age was 9.0.
Two-thirds (67.3%) of the individuals were reported to have exhibited regression in at least one area. Regression was reported in both categories(verbal and other) for 25 (45.5%) individuals ). Regression in one of the two categories was reported for 12 individuals (21.8%), and no regression was reported in either category for 18 (32.7%).
The frequency of history of regression was age related to some degree. The average age of those for whom no regression was reported was 5.78 years with a median age of 5 years. The average are of those who had experience regression in at least one area was 13.43 years and the median age was 12.00. For some individuals as young as 3, however, regression had already been observed.
Among those for whom regression was reported, the average age reported at which regression in verbal skills occurred was 8.07 with a median age of 8, but ranging from as young as 1 year old to as old as 20. The average age reported at which regression in other skills occurred was 8.41 with a median age of 7.5, but ranging from as young as 1 year old to as old as 19. The oldest child for which no regression had yet been observed was 10 years old.
This chart indicates the current ages of individuals. The green bars indicate the number of individuals for whom regression has not yet been observed. The red bars indicate the number of individuals for whom regression has been reported.
Seizures were reported for 35 (63.6%) of the 55 individuals. The remainder were reported as being free of seizures. Among those who exhibited seizures, the mean age of onset was 7.6 years and the median age of onset was 7. Those who had a history of seizures were much more likely to have experienced regression.
Of the 35 who had a history of seizures, some form of regression was reported for 30 (85.7%), while for the 20 without a seizure history, regression was only reported for five (25%). This graph indicates the difference in the frequency of reported regression between the two groups.
Of the 35 who had a history of seizures, 26 (74.3%) were reported to exhibit regression in verbal abilities and of the 20 not reported to have had seizures, only one (5%) was reported to exhibit regression in verbal skills. Of the 35 who had a history of seizures, 30 (85.7%) were reported to exhibit regression in other abilities and of the 20 not reported to have had seizures, only 5 (25%) was reported to exhibit regression in verbal skills. Comments, however, indicted that some families reported no regression in verbal skills because the considered that the child had never developed enough skills for regression to occur or be observed. For example one parent commented, “[child’s name] never had any abilities to regress.”