Young-onset Frontotemporal Dementia Research Articles

Electroencephalography in young onset dementia

BackgroundYoung onset dementia (YOD) is a major diagnostic and management problem.MethodsWe set out to explore if electroencephalography (EEG) might be useful in the diagnosis of young onset Alzheimer’s disease (YOAD) and young onset frontotemporal dementia (YOFTD). The ARTEMIS project is a 25-year prospective study of YOD based in Perth, Western Australia. 231 participants were included: YOAD: n = 103, YOFTD: n = 28, controls: n = 100. EEGs were performed prospectively, with 30-minute recording time for each subject, without knowledge of diagnosis or other diagnostic data.Results80.9% of patients with YOD had abnormal EEGs (P < 0.00001). Slow wave changes were more frequent in YOAD that YOFTD (P < 0.00001), but no difference in the frequency of epileptiform activity (P = 0.32), with 38.8% of YOAD and 28.6% of YOFTD patients having epileptiform activity. Slow wave changes were more generalized in YOAD (P = 0.001). Slow wave changes and epileptiform activity were not sensitive to the diagnosis of YOD, but highly specific (97–99%). The absence of slow wave changes and epileptiform activity had a 100% negative predictive value and likelihood radio 0.14 and 0.62 respectively, meaning that those without slow wave changes or epileptiform activity had low probability of having YOD. No relationship was established between EEG findings and the patient’s presenting problem. Eleven patients with YOAD developed seizures during the study, and only one with YOFTD.ConclusionsThe EEG is highly specific for the diagnosis of YOD with the absence of slow wave changes and epileptiform phenomena making the diagnosis unlikely, with 100% negative predictive value and with low probability for the dementia diagnosis.

How gender matters in demanding caring for a spouse with young-onset dementia. A narrative study

Background The gendered aspects of extraordinary demanding spousal caring for people with young-onset dementia have been scarcely researched. Aim To analyze spouses’ experiences of the meaning, content, and effort of intensive caring for spouses/partners with young-onset frontotemporal dementia (YO-FTD), concentrating on a female perspective. Method A qualitative Norwegian study using narrative interviews with 10 wives and 6 husbands were conducted in 2014 and 2015. Findings The analysis resulted in four gendered main themes: Different caregiving periods, Distancing: experiencing a transformed spouse and relationship, Social isolation, and Needing assistance and relief. A case analysis of wives’ and men’s stories was applied, especially focusing on a wife’s story, to examine the detailed interrelationships between life situation, caring demands, experiences, and reactions. Spousal care is influenced by gendered caring norms and roles. The study finds marked differences between wives and husbands in the meaning, content and sustainability of care, and needs for support vary. Wives endured more stress longer than husbands, with a greater emotional impact and negative health consequences, and their needs are more easily neglected. Husbands presented their needs more efficiently and obtained public relief earlier. Conclusion Women may need more support earlier during different stages of caring for a spouse with YO-FTD. They need gender sensitive person-centered support to live their own lives and preserve their selves.

Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan.

Recent genetic progress allows the molecular diagnosis of young-onset dementia, including Alzheimer's disease (AD) and frontotemporal dementia (FTD). We aimed to identify the mutational and clinical spectra of causal genes in a Taiwanese cohort of young-onset dementia. Ninety-one patients with young-onset dementia and 22 age/gender-matched controls were recruited. Genetic causes were identified by a targeted panel containing 90 causative genes for AD, FTD, and related neurodegenerative disorders. Plasma biomarkers, including total tau, Aβ42, and Aβ40, were assayed. Molecular amyloid and tau PET scans were performed in some patients carrying mutations. Nine of 52 patients (17.3%) with young-onset AD had mutations: 2 (22.2%), 4 (44.5%), 2 (22.2%), and 1 (11.1%) in APP, PSEN1, PSEN2, and TREM2, respectively. Two of 33 patients (6.1%) with young-onset FTD had mutations in MAPT and LRRK2. Three of the 6 patients (50.0%) with possible FTD combined with other neurodegenerative disorders had individual mutations in APP, PSEN2, or MAPT. Patients with PSEN1 mutations had earlier onset of disease than those without mutations (p = .02). Plasma level of total tau was increased and Aβ42 and Aβ40 levels decreased in all groups of dementia patients compared to controls. Our findings provide a genetic spectrum of young-onset dementia in our population.

Metaphors for the Meaning of Caring for a Spouse with Dementia.

BackgroundSpouses of people with young-onset frontotemporal dementia (YO-FTD) (age 65 years or younger) encounter special challenges. The diagnosis is scarcely known; the early onset is unexpected; and the disease is characterized by symptoms varying from those of other types of dementia. Caring implies increasing hardships, which can be difficult to communicate to others when applying for support. Metaphors create and communicate meaning and are increasingly used in health care and health interventions as ways to better understand the situation.AimTo examine the experiences of spouses of people with YO-FTD and their needs for care and support as expressed through metaphors in narratives of their experiences during the development of the dementia.MethodsQualitative interviews with 16 informants (ten women, six men) were conducted in 2014/2015. They were recruited from seven memory clinics, one municipality dementia team, and a nursing home. Steger’s three-step method for analyzing metaphors was applied.FindingsThe core metaphors cover experiences of the dementia and the transformation of the spouse, changed roles and relationships between spouses, the transformation of the self, a radical turn of existential life, and relationships with others. Metaphors are words and phrases used to talk about complicated, contradictory, shameful, and/or normatively difficult feelings and reactions as caring spouses. The open themes and, at the same time, provide verbal shields and defences. Metaphors are especially effective for expressing the strength of the reactions in caring as emotional work and are tools for mastering emotions and challenges in life.ConclusionMetaphors give insights into the significant experiences of spouses of partners with YO-FTD and offer personnel in health services a better understanding of their needs for tailored support and help.

Young-onset frontotemporal dementia with FUS pathology

Frontotemporal dementia (FTD) is an uncommon cause of behavioural change in adults under the age of 50. A 44-year-old man presented with progressive neuropsychiatric disturbance characterised by social withdrawal, apathy,...

Conjoint FTLD-FUS of the neuronal intermediate filament inclusion disease type, progressive supranuclear palsy and Alzheimer's pathology presenting as parkinsonism with early falls and late hallucinations, psychosis and dementia

Progressive supranuclear palsy (PSP) is a low-prevalence atypical parkinsonism with underlying 4R-tauopathy and a growing number of clinical phenotypes, making its differential diagnosis from other conditions such as Parkinson's disease (PD) and corticobasal degeneration particularly challenging (1,2). Neuronal intermediate filament inclusion disease (NIFID), a sporadic alpha-internexin and fused-in-sarcoma (FUS) proteinopathy, is an even rarer condition with few cases published worldwide. It is most often diagnosed at autopsy, again due to a remarkable clinical heterogeneity ranging from young-onset frontotemporal dementia to PSP-lookalike parkinsonism, among other phenotypes (3-6). This article is protected by copyright. All rights reserved.

Cost Related to Dementia in the Young and the Impact of Etiological Subtype on Cost.

Young onset dementia (YOD) presents in individuals who are economically productive and socially active. While the cost related to dementia in the elderly has been widely studied, the cost related to YOD is largely unknown. To study the economic burden of community dwelling YOD in relation to late onset dementia (LOD) and cost of YOD based on etiology. In this prospective cross-sectional study of 255 patients attending a tertiary neurology center, data on economic burden, clinical features, and caregiver burden were collected using structured financial questionnaire, standard cognitive and neuropsychiatric measures, and Zarit caregiver burden scale. Cost components were grouped into those relating to direct medical costs, direct non-medical costs, and those related to indirect costs. Cost was also categorized based on etiology of YOD. The mean age at symptom onset in the YOD and LOD cohort was 57.0 (SD 5.1) and 75.0 (SD 5.9) years, respectively. The median annual cost for patients with YOD was almost twice that of LOD (USD 15,815 versus USD 8,396). Indirect cost contributed heavily to cost related to YOD. Even when grouped by dementia etiology, YOD patients with Alzheimer's disease, frontotemporal dementia (FTD), and vascular dementia had higher cost compared to their elderly counterparts. Young onset FTD had the highest cost. 43.2% of YOD reported loss of employment due to dementia, which was significantly higher than that in LOD (2.4%). Patients with YOD have a high economic burden. Young patients with FTD have the highest cost followed by vascular dementia and Alzheimer's disease.

Young Onset Dementia study – A Prospective Cohort Study of Quality of Life and Specific Needs in Persons with Young Onset Dementia and their Families

Background: Young-Onset Dementia (YOD) causes challenges and concerns that are likely to affect quality of life and generate specific needs for health care, which may be different from what is observed in late onset dementia. The knowledge about the impact of YOD, in particular Fronto Temporal Dementia (FTD), on the affected families is scarce, and previous studies have underscored the importance of differentiating between diagnostic subgroups of YOD in future research. Accordingly, the aims of this study are to identify and compare factors influencing quality of life between persons with young onset FTD and Alzheimer’s Dementia (AD) and their families as the condition progresses. An additional aim is to compare the use of health care services among younger and older persons with dementia, and to investigate the life-stage specific needs for health care services in persons with YOD. Methods/Design: This is a two-year observational Nordic multicentre cohort study of community-dwelling persons with YOD and their families. Two diagnostic subgroups, each consisting of 75 dyads with AD and 75 dyads with FTD with symptom debut 70 years. Participants are recruited from nine Nordic memory clinics. Comprehensive assessments are made at baseline, 12 and 24 months, supplemented with telephone follow-ups at 6 and 18 months. Primary outcome measure is Quality of life measured by Quality of Life in Alzheimer’s Disease (QoL-AD) and EuroQol-5D (EQ-5D). Secondary outcome measures are needs for health care services measured by Camberwell Assessment of Needs in the Elderly (CANE) and Resource Utilization in Dementia Lite (RUD Lite). The inclusion period is from February 2014 to February 2015, with follow-up data collection until February 2017. Conclusion: The sample size, the outcome measures, and the explanatory factors chosen in this study will provide new knowledge of quality of life in families with young onset FTD and AD, and contribute to tailoring the health care services to the life stage-specific needs of families with YOD. ClinicalTrials.gov identifier: NCT02055092

Frontotemporal dementia presenting as schizophrenia-like psychosis in young people: clinicopathological series and review of cases

Few studies have investigated the relationship between schizophrenia and frontotemporal dementia. To investigate this relationship through a clinicopathological investigation of young-onset frontotemporal dementia and a review of the case literature. Cases of young-onset frontotemporal dementia were identified within the local brain bank. The clinical course and pathological findings were collated. For the literature review, cases of frontotemporal dementia identified through Medline were selected according to defined criteria. The demographic, clinical, pathological and genetic characteristics of cases presenting with a psychotic illness were identified. In the case series, 5 of 17 patients with frontotemporal dementia had presented with a psychotic illness (schizophrenia/schizoaffective disorder n=4, bipolar disorder n=1) an average of 5 years prior to the dementia diagnosis. Patients with schizophrenia exhibited changes consistent with TDP-43 and ubiquitin-positive frontotemporal dementia. In the cases review, a third of patients aged 30 years or under and a quarter of those aged 40 years or under had been diagnosed with psychosis at presentation. Patients with young-onset frontotemporal dementia may be diagnosed with a psychotic illness years before the dementia diagnosis is made. These findings have implications for clinicians and for our further understanding of the neurobiology of psychotic illness.