18 June 2012 Thank you to all the families to took time to answer a few questions about pneumonia and their family members with MECP2 Duplication Syndrome. This is not a scientific survey and it is not based on a random sample, but rather on families that chose to respond. This could affect the results although the large number of responses in comparison to the relatively small number of known cases suggests that it has some value. In addition, the only demographic data collected was age. This survey does not differentiate between males and females or between individuals with duplications and individuals with triplications. Here are some preliminary results.
The results of this poll confirm that pneumonia and other lung infections are frequent and serious problems for most individuals with MECP2 Duplication Syndrome. For many, they occur frequently, result in serious and life-threatening symptoms, and require extended periods of time to treat successfully. However, not all individuals appear to experience the same degree of vulnerability. Some appear to be in the normal range or near the normal range in their frequency of pneumonia and other lung infections, the severity of symptoms, or their response to treatment. Others appear to be substantially more vulnerable. Hospital-acquired pneumonia appeared to be very common among the responses to this poll.
Participation and ages of individuals
A total of 105 surveys were received. Eight were completed in French and 97 were completed in English Of these 103, had useful information, and two were discarded. These were discarded because they only included partial information and appeared to duplicate more complete surveys that followed directly after them with more complete information.
Ages ranged from 1 year old at last birthday to 38 years old. Two individuals were 32 years old or older, and one specified an exact age. The average age was about 8 years old. Fifty percent were 6 or younger and 50% were 6 or older. The most frequent age was 4 years old with 13 individuals reported of that age. The age distribution can be viewed in the following graph:
Number of Episodes of Pneumonia or Lung Infection
The poll asked Approximately how many times has your child/family member had pneumonia or a lung infection? There were 103 valid responses to this question distributed as indicated in the chart below:
Responses indicated that 9 individuals (8.7%) never developed pneumonia. These individuals ranged in age from 1 to 5 years old, with one five year old, two one year olds, and the remaining 6 all being three. By far the most frequent answer to this question was more than ten episodes, with 33 (32.0%) reporting this. The youngest in this category was only 3 years old while the oldest was 38.
The median number of episodes was 6 with 50% of surveys reporting 6 or less and 50% reporting 6 or more. The relationship between the age of the individual and the number of episodes was very weak, for example, one individual in the 32 or older category had only had pneumonia one time, while one one-year-old child was reported to have pneumonia or lung infections eight times.
This suggests that all or almost all individuals with MECP2 Duplication syndrome have increased susceptibility to pneumonia or other lung infections but that the degree of susceptibility may vary substantially among individuals.
The next installment will address severity of pneumonia episodes experienced by individuals with MECP2 Duplication Syndrome. Click this link to go to Part 2.