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The Child with Fragile X Syndrome
Dr. Alva van der Merwe | Clinical
An overview of the clinical features, diagnosis and management of the child with Fragile X Syndrome
| Topic / Title of the Talk | The Child with Fragile X Syndrome |
| Field of Medicine | Paediatrics |
| Length of the Talk | 11 Mins |
| CPD Accreditation No. | MDB015/MPDP/070/487 |
| Category of the Talk | Overview |
| CPD Type | Clinical | Subscription CPD |
| Languages (Translations) & Subtitles | Not Translated |
| Speaker | Dr. Alva van der Merwe |
Talk Description
This talk was delivered as part of an Ampath Webinar on Fragile X Syndrome Awareness. Fragile X syndrome is one of a number of clinical disorders associated with mutations in the FMR1 gene. Fragile X syndrome is the most common single-gene cause of intellectual disability worldwide. As many as 1 in 151 women and 1 in 468 men carry a premutation in this gene and carriers are at increased risk of Fragile X-associated tremor ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) and neurodevelopemental delay in children.
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