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dc.contributor.authorLeonard, H.
dc.contributor.authorDowns, Jennepher
dc.contributor.authorLim, Z.
dc.contributor.authorWong, K.
dc.contributor.authorMurphy, N.
dc.contributor.authorEpstein, A.
dc.contributor.authorEllaway, C.
dc.identifier.citationLeonard, H. and Downs, J. and Lim, Z. and Wong, K. and Murphy, N. and Epstein, A. and Ellaway, C. 2015. Need for a new international rare disease database: the MECP2 duplication syndrome [Oral abstract]. Journal of Intellectual Disability Research. 59 (9): pp. 792-793.

Background: Individuals who have two or more copies of the MECP2 gene, located at Xq28, have been found to share clinical features and a distinct facial phenotype known as MECP2 duplication syndrome (MDS). The aims of this study are to provide a preliminary snapshot of MDS to inform the development of a new international database. Methods: The International Rett Syndrome Database, first established in 2002, collects data on Rett syndrome and Rett-related disorders including MDS. Results: Data are available on 57 cases (49 males and 8 females) with MDS. Median age at ascertainment was 7.9 years (range 1.2–37.6 years) and at diagnosis 3 years (range 3–37 years). Only 10% had an initial diagnosis of MDS. Less than a third (30%) learned to walk (median age 30 months), while 70% learned to use babble or words (median age 15 months). Speech deterioration was reported in 37%, and only 20% were able to use word approximations or better at ascertainment. The majority (85%) had been hospitalized in the first 2 years of life often because of respiratory infections. Just under half (45%) had seizures, occurring daily in half (56%) of this group. Scoliosis affected a quarter of those aged over 7 years. The majority (90%) had gastrointestinal problems, and a third had a gastrostomy. Respiratory infections and sleep apnoea were common. Conclusion: Parents and clinicians alike need to know more about this disorder, particularly the occurrence of co-morbidities and their management. These data supported by consumer consultation will inform the development of a new MDS-specific international database.

dc.titleNeed for a new international rare disease database: the MECP2 duplication syndrome
dc.typeJournal Article
curtin.departmentSchool of Physiotherapy and Exercise Science
curtin.accessStatusFulltext not available

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