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Diagnosis of Rett syndrome: can a radiograph help?
| Content Provider | Scilit |
|---|---|
| Author | Glasson, E. J. Bower, C. Thomson, M. K. Fyfe, Sue Leonard, S. Christodoulou, John Fllaway, C. Rousham, E. Leonard, H. (Hons), E. J. Glasson Bpsych Bsc Fafphm, C. Bower Mb Dmkd, M. K. Thomson Mb Frcr Cghgsa, J. Christodoulou Mb Fracp Mb, C. Fllaway ChB, H. Leonard M. B. (Cantab), E. Rousham Ba (Hons) |
| Copyright Year | 2008 |
| Description | Journal: Developmental Medicine and Child Neurology Rett syndrome (RS), a neurodevelopmental disorder almost exclusively affecting girls, is associated with severe intellectual and motor disability. In the absence of biological markers, diagnosis is determined by a set of clinical criteria. In a previous study in Scotland, shortening of the fourth metatarsal was reported clinically in 20% of classical RS cases aged 5 years or older. The Australian Rett Syndrome Study database has facilitated a population-based radiological study of the hands and feet of girls with RS. Straight radiographs of hands and feet were available from 94 cases, representing 70.1% of the known RS population in Australia. Control radiographs were matched for age, sex, and laterality. Relative shortening of the fourth metacarpal/metatarsal was assessed using the sign method. A short ulna (negative ulna variance) was defined as the distal articular surface of the ulna being at least 5mm proximal to the distal articular surface of the radius. A positive metacarpal sign was twice as common in verified cases of RS than in controls in the right but not the left hand. A short ulna was more common in subjects with RS than in controls. A short fourth metatarsal was also more common among subjects with RS. More than half (56.6%) the girls with RS over the age of 4 years had a negative ulnar variance in either wrist or a metatarsal sign in either foot. These findings will assist with the diagnosis of RS and may help direct research towards the location of the molecular defect. |
| Related Links | http://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.1998.tb12341.x/pdf |
| Ending Page | 742 |
| Page Count | 6 |
| Starting Page | 737 |
| ISSN | 00121622 |
| e-ISSN | 14698749 |
| DOI | 10.1111/j.1469-8749.1998.tb12341.x |
| Journal | Developmental Medicine and Child Neurology |
| Issue Number | 11 |
| Volume Number | 40 |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2008-11-12 |
| Access Restriction | Open |
| Subject Keyword | Journal: Developmental Medicine and Child Neurology Special Education |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neurology (clinical) Pediatrics, Perinatology and Child Health Developmental Neuroscience |
