Medical Comorbidities in Mecp2 Duplication Syndrome
Results from the International Mecp2 Duplication Database
Bibliographic Data
| ID | 15716724 |
|---|---|
| Authors | Daniel Ta (0000-0001-9875-0704, The Kids Research Institute Australia, corresponding author), Jenny Downs (0000-0003-4847-7118, Curtin University), Gareth Baynam (0000-0003-4920-9553, The University of Western Australia), Andrew Wilson (0000-0002-9814-5966, Perth Children's Hospital), Peter Richmond (0000-0001-7562-7228, Princess Margaret Hospital for Children), Helen Leonard (0000-0001-6405-5834, The Kids Research Institute Australia) |
| Year | 2022 |
| Volume | 9 |
| Issue | 5 |
| Pages | 633-633 |
| Publication date | 2022-04-28 |
| Peer Reviewed | Yes |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children9050633 |
| PMID | 35626810 |
| OpenAlex | W4282935143 |
| Language | EN |
| Citations received | 2 |
| References cited | 37 |
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
Bioinformatics · Biology · Comorbidity · Context (archaeology · Epilepsy · Gene duplication · Psychiatry · Congenital gastrointestinal and neural anomalies · Genetics and Neurodevelopmental Disorders · Medicine · Pediatric Hepatobiliary Diseases and Treatments · Genetics · Internal Medicine · Pediatrics
| Unique citing works | 2 |
|---|---|
| Citations per year | 0,5 |
| Citation span | 2022 - 2023 (2) |
| Citation velocity | historical |
| Highly cited | No |
| Citation types | Neutral: 2 |