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. 2022 Apr 28;9(5):633.
doi: 10.3390/children9050633.

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

Daniel Ta  1 , Jenny Downs  1   2 , Gareth Baynam  1   3   4 , Andrew Wilson  1   5 , Peter Richmond  1   5   6 , Helen Leonard  1
Affiliations

Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database

Daniel Ta et al. Children (Basel). .

Abstract

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase). We report a higher frequency of pneumonia, bronchitis, bronchiolitis, gastroesophageal reflux and slow gut motility in males compared to females. We further examine the prevalence of other medical comorbidities such as epilepsy, gastrointestinal problems, feeding difficulties, scoliosis, bone fractures, sleep apnoea, autonomic disturbance and decreased pain sensitivity. A novel feature of urinary retention is reported and requires further investigation. Further research is required to understand the developmental trajectory of this disorder and to examine the context of these medical comorbidities in a quality of life framework.

Keywords: MECP2 duplication syndrome; epilepsy; intellectual disability; neurodevelopmental disorder; recurrent infections.

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Conflict of interest statement

H.L. and J.D. report fees from AveXis, Anavex, Newron and GW outside the submitted work and with all renumeration paid to their institution. The authors declare no conflict of interest relating to the submitted work.

Figures

Figure A1
Figure A1
Profile of anti-seizure medications (ASMs) reported by caregivers in the treatment of individuals with MDS affected by seizures and the medication effectiveness.
Figure 1
Figure 1
Method of data collection (Created with BioRender.com, accessed on 18 March 2022).
Figure 2
Figure 2
Frequency distribution of pneumonia, bronchitis, asthma and croup being sometimes or constantly a problem during 5 year epochs. Note: Sample size decreases with each increasing 5 year epoch.
Figure 3
Figure 3
Time-to-event estimates of developing seizures.
Figure 4
Figure 4
Proportion of individuals who have experienced different seizure types.
Figure 5
Figure 5
Time-to-event estimates of developing scoliosis.
See this image and copyright information in PMC

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