ABSTRACT
Frontotemporal dementia in genetic forms is highly heterogeneous and begins many years to prior symptom onset, complicating disease understanding and treatment development. Unifying methods to stage the disease during both the presymptomatic and symptomatic phases are needed for the development of clinical trials outcomes. Here we used the contrastive trajectory inference (cTI), an unsupervised machine learning algorithm that analyzes temporal patterns in high-dimensional large-scale population datasets to obtain individual scores of disease stage. We used cross-sectional MRI data (gray matter density, T1/T2 ratio as a proxy for myelin content, resting-state functional amplitude, gray matter fractional anisotropy, and mean diffusivity) from 383 gene carriers (269 presymptomatic and 115 symptomatic) and a control group of 253 noncarriers in the Genetic Frontotemporal Dementia Initiative. We compared the cTI-obtained disease scores to the estimated years to onset (age-mean age of onset in relatives), clinical, and neuropsychological test scores. The cTI based disease scores were correlated with all clinical and neuropsychological tests (measuring behavioral symptoms, attention, memory, language, and executive functions), with the highest contribution coming from mean diffusivity. Mean cTI scores were higher in the presymptomatic carriers than controls, indicating that the method may capture subtle pre-dementia cerebral changes, although this change was not replicated in a subset of subjects with complete data. This study provides a proof of concept that cTI can identify data-driven disease stages in a heterogeneous sample combining different mutations and disease stages of genetic FTD using only MRI metrics.
Subject(s)
Frontotemporal Dementia , Cross-Sectional Studies , Frontotemporal Dementia/diagnostic imaging , Frontotemporal Dementia/genetics , Frontotemporal Dementia/psychology , Heterozygote , Humans , Language , Magnetic Resonance ImagingABSTRACT
OBJECTIVE: C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD). We examined aging trajectories of cortical thickness (CTh) and surface area in C9orf72 expansion adult carriers compared to healthy controls to characterize preclinical cerebral changes leading to symptoms. METHODS: Data were obtained from the Genetic Frontotemporal Dementia Initiative. T1-weighted magnetic resonance imaging scans were processed with CIVET 2.1 to extract vertex-wide CTh and cortical surface area (CSA). Symptomatic and presymptomatic subjects were compared to age-matched controls using mixed-effects models, controlling for demographic variables. Aging trajectories were compared between carriers and noncarriers by testing the "age by genetic status" interaction. False discovery rate corrections were applied to all vertex-wide analyses. RESULTS: The sample included 640 scans from 386 subjects, including 54 symptomatic C9orf72 carriers (72.2% behavioral variant FTD), 83 asymptomatic carriers, and 249 controls (age range = 18-86 years). Symptomatic carriers showed fairly symmetric reduction in CTh/CSA in most of the frontal lobes, in addition to large temporoparietal areas. Presymptomatic subjects had reduced CTh/CSA in more restricted areas of the medial frontoparietal lobes, in addition to scattered lateral frontal, parietal, and temporal areas. These differences were explained by faster cortical thinning linearly throughout adulthood in a similar anatomical distribution, with differences emerging in the early 30s. CSA reduction was also faster in mutation carriers predominantly in the ventrofrontal regions. INTERPRETATION: C9orf72 mutation carriers have faster cortical thinning and surface loss throughout adulthood in regions that show atrophy in symptomatic subjects. This suggests that the pathogenic effects of the mutation lead to structural cerebral changes decades prior to symptoms. ANN NEUROL 2020 ANN NEUROL 2020;88:113-122.
Subject(s)
C9orf72 Protein/genetics , Cerebral Cortex/diagnostic imaging , DNA Repeat Expansion , Frontotemporal Dementia/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Atrophy/diagnostic imaging , Atrophy/genetics , Female , Frontotemporal Dementia/diagnostic imaging , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Young AdultABSTRACT
Effective two-way patient-provider communication is challenging and is even more difficult when patients are communication vulnerable. The results of being unheard and unacknowledged can contribute to negative feelings and may manifest as symptoms of anxiety and depression. Researchers explored symptoms of anxiety and depression when using a team-developed, patient-centered, and nurse-led intervention called Speak for Myself-Voice (formerly published as Speak for Myself) in five intensive care units at a Magnet status, university-affiliated medical center in East Tennessee. This was an equivalent control group design. The data were analyzed with a mixed-effect analysis of variance (between and within groups) with repeated measures to see if the treatment group changed differently than the control group across time (48 hours). This study report adds information about anxiety and depression in patients who are communication vulnerable and using communication technology.
Subject(s)
Anxiety/psychology , Communication , Depression/psychology , Information Technology , Intensive Care Units , Outcome Assessment, Health Care , Adult , Aged , Brief Psychiatric Rating Scale , Female , Humans , Male , Middle Aged , Nurses , Stress, Psychological/psychology , TennesseeABSTRACT
The purpose of this study was to report a secondary analysis of data collected through a primary study. The primary study was a, randomized, control trial that used a team-designed (nursing, speech language hearing, engineering, communication sciences, and biostatistics), nurse-led, electronic communication intervention (Speak for Myself Voice) and measured patient outcomes of symptoms of anxiety and depression in five intensive care units at a regional, magnet-status, academic medical center. A secondary analysis of data using the Hospital Anxiety and Depression scale is reported here. The extant literature supports patient expressions of frustration, anger, anxiety, and depression when unable to communicate. This secondary analysis study report adds information about Hospital Anxiety and Depression subscales in the communication-vulnerable population. Implications include emerging awareness of potential feelings of depression and anxiety in patients who are receiving mechanical ventilation or who are unable to verbally communicate for any reason (e.g. obstruction, trauma, head and neck cancer) in the intensive care unit.
Subject(s)
Anxiety/etiology , Communication , Professional-Patient Relations , Vulnerable Populations/psychology , Adult , Analysis of Variance , Anxiety/psychology , Cost of Illness , Critical Illness/psychology , Critical Illness/therapy , Depression/etiology , Depression/psychology , Female , Humans , Intensive Care Units/organization & administration , Intensive Care Units/statistics & numerical data , Male , Middle Aged , Vulnerable Populations/statistics & numerical dataABSTRACT
Core vocabulary lists obtained through the analyses of children's utterances include a variety of basic concept words. Supporting young children who use augmentative and alternative communication (AAC) to develop their understanding and use of basic concepts is an area of practice that has important ramifications for successful communication in a classroom environment. This study examined the availability of basic concept words across eight frequently used, commercially available AAC language systems, iPad© applications, and symbol libraries used to create communication boards. The accessibility of basic concept words was subsequently examined using two AAC language page sets and two iPad applications. Results reveal that the availability of basic concept words represented within the different AAC language programs, iPad applications, and symbol libraries varied but was limited across programs. However, there is no significant difference in the accessibility of basic concept words across the language program page sets or iPad applications, generally because all of them require sophisticated motor and cognitive plans for access. These results suggest that educators who teach or program vocabulary in AAC systems need to be mindful of the importance of basic concept words in classroom settings and, when possible, enhance the availability and accessibility of these words to users of AAC.
Subject(s)
Communication Aids for Disabled , Software , Vocabulary , Child , Computers, Handheld , Humans , Mobile ApplicationsABSTRACT
Online learning for nurses is growing in popularity, with programmes ranging from mandatory update training to part-time master's degrees. E-learning, as it is known, offers flexibility in access to learning, study time and learning styles. In busy clinical areas, where guidance is provided on minimum nurse staffing levels, e-learning provides solutions for managers who wish to encourage professional development while maintaining adequate nursing cover. Caution must be taken, however, when choosing e-learning programmes, as quality and efficacy differ across the range. This article highlights the properties of good e-learning pedagogy to prepare nurse managers for successful assessment of these programmes.
ABSTRACT
The purpose of this study was to test the hypothesis that word reading accuracy, not oral language, is associated with spelling performance in school-age children. We compared fourth grade spelling accuracy in children with specific language impairment (SLI), dyslexia or both (SLI/dyslexia) to their typically developing grade-matched peers. Results of the study revealed that children with SLI performed similarly to their typically developing peers on a single-word spelling task. Alternatively, those with dyslexia and SLI/dyslexia evidenced poor spelling accuracy. Errors made by both those with dyslexia and SLI/dyslexia were characterized by numerous phonologic, orthographic and semantic errors. Cumulative results support the hypothesis that word reading accuracy, not oral language, is associated with spelling performance in typically developing school-age children and their peers with SLI and dyslexia. Findings are provided as further support for the notion that SLI and dyslexia are distinct, yet co-morbid, developmental disorders.
Subject(s)
Child Language , Dyslexia/epidemiology , Language Development Disorders/epidemiology , Semantics , Vocabulary , Child , Comorbidity , Contingent Negative Variation , Dyslexia/diagnosis , Female , Humans , Intelligence , Language Development , Language Development Disorders/diagnosis , Language Tests , Longitudinal Studies , MaleABSTRACT
PURPOSE: The current mixed methods research study was designed to describe the experience and opinions of paediatric acute care nurses at a single paediatric medical centre regarding augmentative and alternative communication (AAC). This research serves as the beginning of a line of research to determine needs that can be met through later education and training on AAC with paediatric acute care nurses. METHODS: Mixed methods were used to gather survey and interview data from nurses at a single paediatric hospital to investigate their knowledge of AAC, perceived relevance of AAC for their patient populations, and preferences for training programmes. RESULTS: Quantitative survey and qualitative interview data indicated a need for AAC education for these paediatric nurses. Nurses demonstrated limited knowledge and experience with AAC but communicated both a desire and perceived need to know more to effectively care for their patients. CONCLUSION: Nurses reported limited AAC knowledge but expressed a desire for support to use AAC with their patients. AAC education and cross-sector collaboration with healthcare workers such as speech-language pathologists (SLPs) and acute care paediatric nurses are indicated to support effective communication when interacting with patients with complex communication needs (CCN).Implications for rehabilitationImproved background knowledge to develop and implement future nurse education on AAC.Foundation for cross-sector collaboration (e.g., nurses and SLPs) on AAC implementation in paediatric acute care settings.
Subject(s)
Communication Aids for Disabled , Communication Disorders , Nurses, Pediatric , Speech-Language Pathology , Child , Communication , Humans , Pilot ProjectsABSTRACT
PURPOSE: Developing technological innovations in healthcare is made complex and difficult due to effects upon the practices of professional, managerial and other stakeholders. Drawing upon the concept of boundary object, this paper explores the challenges of achieving effective collaboration in the development and use of a novel healthcare innovation in the English healthcare system. DESIGN/METHODOLOGY/APPROACH: A case study is presented of the development and implementation of a smart phone application (app) for use by rheumatoid arthritis patients. Over a two-year period (2015-2017), qualitative data from recorded clinical consultations (n = 17), semi-structured interviews (n = 63) and two focus groups (n = 13) were obtained from participants involved in the app's development and use (clinicians, patients, researchers, practitioners, IT specialists and managers). FINDINGS: The case focuses on the use of the app and its outputs as a system of inter-connected boundary objects. The analysis highlights the challenges overcome in the innovation's development and how knowledge sharing between patients and clinicians was enhanced, altering the nature of the clinical consultation. It also shows how conditions surrounding the innovation both enabled its development and inhibited its wider scale-up. ORIGINALITY/VALUE: By recognizing that technological artefacts can simultaneously enable and inhibit collaboration, this paper highlights the need to overcome tensions between the transformative capability of such healthcare innovations and the inhibiting effects simultaneously created on change at a wider system level.
ABSTRACT
BACKGROUND: Differentiating early behavioral variant frontotemporal dementia (bvFTD) and primary psychiatric disorders (PPD) is complex and biomarkers have limited accuracy, leading to inaccurate diagnoses. OBJECTIVES: Develop a simple bedside clinical tool to differentiate bvFTD from PPD. METHODS: A checklist of clinical features differentiating bvFTD from PPD was developed based on literature and clinical experience. The checklist was filled prospectively for 29 consecutive patients (Montreal Neurological Hospital) with late-onset (≥ age 40) behavioral changes suggestive of bvFTD. The checklist was subsequently retrospectively completed on the baseline visit (Nâ=â137) of the Late-Onset Frontal Lobe study (Amsterdam). In both cohorts, patients were followed 2 years to establish a final best clinical diagnosis, categorizing patients into Probable FTD (Nâ=â46), Possible FTD (Nâ=â8), Other Cognitive Disorder (Nâ=â36), Other Neurological Disorder (Nâ=â10), or PPD (Nâ=â66). RESULTS: All items distinguished the two groups except "duration more than 5 years", which was removed to create a final 17-item version. Mean checklist scores were significantly different across all groups (Oneway ANOVA F(4,161)â=â27.462, pâ<â0.001). The PPD group had lower scores than all other dementia categories, with the largest difference between Probable FTD (X¯=â12.04) and PPD (X¯=â7.48). A score ≥11 was found to be strongly indicative of bvFTD (specificity 93.9%, sensitivity 71.1%, PPV 89.2%). Scores ≤8 were strongly indicative of a PPD (specificity 91.3%, sensitivity 77.3%, PPV 92.7%). Patient with scores of 9-10 are considered indeterminate. CONCLUSIONS: Although further prospective validation is required, the "FTD vs PPD Checklist" could provide a simple tool to improve diagnostic accuracy, particularly in non-specialized settings.
Subject(s)
Checklist , Frontotemporal Dementia/diagnosis , Frontotemporal Dementia/psychology , Mental Disorders/diagnosis , Mental Disorders/psychology , Point-of-Care Testing , Age of Onset , Aged , Cognition Disorders/diagnosis , Cognition Disorders/psychology , Female , Humans , Male , Middle Aged , Nervous System Diseases/diagnosis , Nervous System Diseases/psychology , Neuropsychological Tests , Prospective Studies , Reproducibility of ResultsABSTRACT
Frontotemporal dementia (FTD) is difficult to diagnose, due to its heterogeneous nature and overlap in symptoms with primary psychiatric disorders. Brain MRI for atrophy is a key biomarker but lacks sensitivity in the early stage. Morphometric MRI-based measures and machine learning techniques are a promising tool to improve diagnostic accuracy. Our aim was to review the current state of the literature using morphometric MRI to classify FTD and assess its applicability for clinical practice. A search was completed using Pubmed and PsychInfo of studies which conducted a classification of subjects with FTD from non-FTD (controls or another disorder) using morphometric MRI metrics on an individual level, using single or combined approaches. 28 relevant articles were included and systematically reviewed following PRISMA guidelines. The studies were categorized based on the type of FTD subjects included and the group(s) against which they were classified. Studies varied considerably in subject selection, MRI methodology, and classification approach, and results are highly heterogeneous. Overall many studies indicate good diagnostic accuracy, with higher performance when differentiating FTD from controls (highest result was accuracy of 100%) than other dementias (highest result was AUC of 0.874). Very few machine learning algorithms have been tested in prospective replication. In conclusion, morphometric MRI with machine learning shows potential as an early diagnostic biomarker of FTD, however studies which use rigorous methodology and validate findings in an independent real-life cohort are necessary before this method can be recommended for use clinically.
Subject(s)
Brain/diagnostic imaging , Brain/pathology , Frontotemporal Dementia/diagnostic imaging , Frontotemporal Dementia/pathology , Magnetic Resonance Imaging/methods , Biomarkers , Humans , Image Interpretation, Computer-Assisted/methods , Image Processing, Computer-Assisted/methods , Machine LearningABSTRACT
PURPOSE: Spelling is an important skill for individuals who rely on augmentative and alternative communication (AAC). The purpose of this study was to investigate how computerized sounding out influenced spelling accuracy of pseudo-words. Computerized sounding out was defined as a word elongated, thus providing an opportunity for a child to hear all the sounds in the word at a slower rate. METHODS: Seven children with cerebral palsy, four who use AAC and three who do not, participated in a single subject AB design. RESULTS: The results of the study indicated that the use of computerized sounding out increased the phonologic accuracy of the pseudo-words produced by participants. CONCLUSION: The study provides preliminary evidence for the use of computerized sounding out during spelling tasks for children with cerebral palsy who do and do not use AAC. Future directions and clinical implications are discussed. IMPLICATIONS FOR REHABILITATION: We investigated how computerized sounding out influenced spelling accuracy of pseudowords for children with complex communication needs who did and did not use augmentative and alternative communication (AAC). Results indicated that the use of computerized sounding out increased the phonologic accuracy of the pseudo-words by participants, suggesting that computerized sounding out might assist in more accurate spelling for children who use AAC. Future research is needed to determine how language and reading abilities influence the use of computerized sounding out with children who have a range of speech intelligibility abilities and do and do not use AAC.
Subject(s)
Cerebral Palsy/rehabilitation , Communication Aids for Disabled , Computers , Speech , Child , Communication , Female , Humans , Language , Male , Phonetics , Speech IntelligibilityABSTRACT
Autism Spectrum Disorders (ASD) is a spectrum of highly heritable neurodevelopmental disorders in which known mutations contribute to disease risk in 20% of cases. Here, we report the results of the largest blood transcriptome study to date that aims to identify differences in 170 ASD cases and 115 age/sex-matched controls and to evaluate the utility of gene expression profiling as a tool to aid in the diagnosis of ASD. The differentially expressed genes were enriched for the neurotrophin signaling, long-term potentiation/depression, and notch signaling pathways. We developed a 55-gene prediction model, using a cross-validation strategy, on a sample cohort of 66 male ASD cases and 33 age-matched male controls (P1). Subsequently, 104 ASD cases and 82 controls were recruited and used as a validation set (P2). This 55-gene expression signature achieved 68% classification accuracy with the validation cohort (area under the receiver operating characteristic curve (AUC): 0.70 [95% confidence interval [CI]: 0.62-0.77]). Not surprisingly, our prediction model that was built and trained with male samples performed well for males (AUC 0.73, 95% CI 0.65-0.82), but not for female samples (AUC 0.51, 95% CI 0.36-0.67). The 55-gene signature also performed robustly when the prediction model was trained with P2 male samples to classify P1 samples (AUC 0.69, 95% CI 0.58-0.80). Our result suggests that the use of blood expression profiling for ASD detection may be feasible. Further study is required to determine the age at which such a test should be deployed, and what genetic characteristics of ASD can be identified.
Subject(s)
Child Development Disorders, Pervasive/genetics , Transcriptome , Child , Child Development Disorders, Pervasive/blood , Cohort Studies , Gene Expression Profiling , Humans , Male , Models, Genetic , Oligonucleotide Array Sequence AnalysisABSTRACT
Spelling is a vital skill for people who rely on augmentative and alternative communication (AAC). The ability to spell words provides an opportunity to create novel and spontaneous communication and increases educational, social, and employment opportunities for children and adults. However, many children and youth who rely on AAC struggle to gain functional spelling skills and written language. The purpose of this preliminary investigation was to develop a strategy to provide auditory letter-sounds using commercially available computer equipment and to evaluate how such a computerized "sounding out" strategy influences spelling accuracy for one child who required AAC support. The spelling accuracy of both consonants and vowels increased during intervention sessions when individual sounds associated with target words were provided compared to the baseline session when individual sounds were not provided. Future directions are discussed.