- Title
- An exploration of the diagnostic journey of children with Neuronal Ceroid Lipofuscinosis (NCL)
- Creator
- Gayko, Alanna
- Relation
- University of Newcastle Research Higher Degree Thesis
- Resource Type
- thesis
- Date
- 2021
- Description
- Masters Research - Master of Philosophy (MPhil)
- Description
- A retrospective examination of the diagnostic journey of Australian and New Zealand children with Neuronal Ceroid Lipofuscinosis (NCL) or Batten disease. Neuronal Ceroid Lipofuscinosis (NCL) or Batten disease, is a group of predominantly recessively-inherited neurodegenerative diseases that mostly affect children. It is the most common genetic cause of dementia in children, yet a rare cause of dementia in adults. Although NCL remains life-limiting, clinical trials are in development for specific disease types. NCL has a low Australian and New Zealand incidence, but a devastating impact on affected children and their families. Currently, neither country participates in an international NCL patient registry that leaves these families isolated from potential research and therapeutic agents.
- Subject
- Neuronal Ceroid Lipofuscinosis (NCL); Batten disease; diagnostic delay; Australian and New Zealand children
- Identifier
- http://hdl.handle.net/1959.13/1423664
- Identifier
- uon:37961
- Rights
- Copyright 2021 Alanna Gayko
- Language
- eng
- Full Text
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| Thumbnail | File | Description | Size | Format | |||
|---|---|---|---|---|---|---|---|
| View Details Download | ATTACHMENT01 | Thesis | 9 MB | Adobe Acrobat PDF | View Details Download | ||
| View Details Download | ATTACHMENT02 | Abstract | 678 KB | Adobe Acrobat PDF | View Details Download |