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Applications of imaging genomics beyond oncology
Published in Ruijiang Li, Lei Xing, Sandy Napel, Daniel L. Rubin, Radiomics and Radiogenomics, 2019
Xiaohui Yao, Jingwen Yan, Li Shen
There are three types of FTD categorized by distinct syndromes, including behavioral variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA), and motor neuron dementia (FTD-MND). The FTD-MND has overlaps with other three neurological disorders including amyotrophic lateral sclerosis (ALS), corticobasal syndrome (CBS), and progressive supranuclear palsy (PSP). The term frontotemporal lobar degeneration (FTLD) has been used as the neuropathological concept of the FTD and currently been categorized as three subtypes according to specific proteinaceous inclusions including tau (FTLD-tau), TAR DNA-binding protein 43 (FTLD-TDP), and fused in sarcoma (FUS) inclusions (FTLD-FUS).
A retrospective chart review of the patient population accessing augmentative & alternative communication at an urban assistive technology center
Published in Assistive Technology, 2023
Allison Bean, Julia Zezinka, Carmen DiGiovine, Amy Miller Sonntag, Megan Case
It is important to note that although the majority of patients seeking evaluations at the AT center have progressive diseases, there were notable differences across these individuals. Twenty of the patients had a diagnosis of ALS, four had a diagnosis of Huntington’s disease, two had a diagnosis of primary progressive aphasia and the remaining two patients had diagnoses of Multiple Sclerosis and Parkinson’s disease. Although these are all progressive diseases, the progression and associated symptoms vary. Multiple Sclerosis – a central nervous disease that impacts the brain, spinal cord and optic nerves – follows four different disease courses (National MS Society, n.d.). Like Multiple Sclerosis, ALS is a nervous system disease that affects the brain and spinal cord. Although the signs and symptoms of ALS vary from person to person, disease the disease progression looks similar over time. The disease progresses until it eventually affects an individual’s control of the muscles needed to move, eat, speak and breathe (Mayo Clinic, n.d.). These examples illustrate how even when working with patient’s who fall under a general disease category (e.g., progressive diseases) the needs of each individual and progression of the disease may vary within and across disease type. As such, SLPs may not rely on a one-size-fits all approach to AAC device prescription or treatment.
The New Zealand Genetic Frontotemporal Dementia Study (FTDGeNZ): a longitudinal study of pre-symptomatic biomarkers
Published in Journal of the Royal Society of New Zealand, 2023
Brigid Ryan, Ashleigh O’Mara Baker, Christina Ilse, Kiri L. Brickell, Hannah M. Kersten, Joanna M. Williams, Donna Rose Addis, Lynette J. Tippett, Maurice A. Curtis
Clinically, FTD presents as one of three major syndromes: behavioural variant FTD (bvFTD), characterised by behavioural change with executive dysfunction (Rascovsky et al. 2011); non-fluent variant primary progressive aphasia (nfvPPA), characterised by agrammatism and motor speech deficits (Gorno-Tempini et al. 2011); or semantic variant PPA (svPPA), characterised by semantic aphasia (Gorno-Tempini et al. 2011). In some cases, symptoms overlap with amyotrophic lateral sclerosis (ALS) and the atypical Parkinsonism disorders progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) (Lashley et al. 2015).
Intelligent assistive technology devices for persons with dementia: A scoping review
Published in Assistive Technology, 2021
Shakila Dada, Charene van der Walt, Adele A. May, Janice Murray
To collate a set of records that would provide accurate answers to the research question, a set of inclusion and exclusion criteria was based on the framework recommended for qualitative research reviews, i.e. Population, Exposure and Outcome (PEO) (Butler et al., 2016). By applying the inclusion and exclusion criteria, irrelevant records were excluded, and only primary research of PwD who were exposed to IATDs and which reported cognitive and communicative outcomes of the PwD, were included. Two reviewers independently performed a screening protocol for each record by reading the title and abstract. Each reviewed the total number of records using Covidence software (Veritas Health Innovation, n.d.). To conduct the screening conservatively, any records with disagreements between the reviewers were escalated to full-text screening. Eligibility criteria included the following:POPULATION: Adults (18 years +) with degenerative mild to severe primary dementia, with insidious onset, as well as gradual progression of impairment affecting one or more cognitive domains (American Psychiatric Association, 2013), including dementia due to Alzheimer’s disease, frontotemporal dementia (e.g. primary progressive aphasia), dementia with Lewy bodies.EXPOSURE: Assistive technologies with artificial intelligence for cognitive and communicative impairments, thus IATDs that respond to the user’s needs and adapts to changing environments (McMurray et al., 2017).OUTCOME: Results related to performance of any of the cognitive domains that experience decline due to dementia: Complex attention, executive function, learning and memory, language, perceptual-motor, or social cognition (American Psychiatric Association, 2013). Other outcomes related to cognitive faculties such as memory, communication, orientation, reasoning and decision making (Ienca et al., 2017), and outcomes related to social and emotional faculties (Ienca et al., 2017).DESIGN: Quantitative experimental, quantitative non-experimental, qualitative, mixed method design (McMillan & Schumacher, 2014).RECORD TYPE: Primary/original research published as peer-reviewed journal articles, unpublished dissertations and theses, conference proceedings, conference abstracts available through the University of Pretoria Library and databases.TIME AND LANGUAGE: Published in English, publication dated 2010–2020.