Early-onset dementia in Chinese: Demographic and etiologic characteristics

@#Objective: Data on early-onset dementia in Chinese is limited. This study aimed to report the diagnostic profiles and characteristics of patients with early-onset dementia in a university-affiliated cognitive disorder clinic in Hong Kong. Methods: We prospectively collected data of consecutive patients who were referred between January 2012 and December 2018. All patients were referred for diagnostic evaluation of cognitive symptoms. Patients with symptom-onset at age 65 or before were recruited. We excluded patients with (1) cognitive deficits referable to an isolated event or toxin and (2) significant mood disorders. Results: Of the 93 patients included, four patients had temporal lobe epilepsy mimicking dementia. Three patients had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), one patient had Niemann-Pick disease type C and two patients had undetermined aetiology. The remaining 83 patients had primary degenerative dementia. The most frequent diagnosis wasAlzheimer’s disease (AD) (70%), followed by frontotemporal dementia (FTD) (22%) and parkinsonian disorders (8%). The mean age of symptom onset was 57.8 ± 5.8 years.Ten (17%) AD patients had non-amnestic presentation. Fifteen FTD patients consented for mutation screening in the GRN (progranulin), MAPT (microtubule-associated protein tau) and C9orf72 genes, none were positive. Conclusions: Early-onset dementia had a broader differential diagnoses than late-onset dementia, and includes a number of rare hereditary diseases. Patients with suspected early-onset dementia should be thoroughly evaluated to identify any treatable causes.

Psychosocial impact of early onset dementia among caregivers / Impacto psicossocial da demência de início precoce em cuidadores

Introduction: There is growing recognition of early onset dementia (EOD) as a significant clinical and social problem because of its effects on physical and mental health of people with dementia (PWD) and their caregivers. Objective: To analyze the psychosocial impact of EOD in family caregivers. Methods: The study design was qualitative. Nine EOD caregivers (7 women) were recruited at a service for Alzheimer's disease and assessed using semi-structured interviews. Interpretative phenomenological analysis was used to analyze caregivers' reports. Results: Five themes emerged from the narratives: psychological and emotional impact; physical impact; financial and professional impact; social impact and need for support services. The majority of the caregivers of people with EOD perceived their emotional wellbeing as poor or extremely poor. Carers reported poor physical health, which tends to be longer-lasting than mental health problems. Two caregivers had to retire after the disclosure of the dementia diagnosis, and seven reduced their work loads because they had to look after PWD. Preserving the abilities of PWD is essential to maintain their self-esteem, dignity and sense of utility. For the caregivers, interventions and stimulating activities make PWD feel worthwhile and contribute to improving life. Conclusion: The caregivers of people with EOD assume the role of caregiver prematurely and need to balance this activity with other responsibilities. There is a need for more studies of EOD in order to improve understanding of the impact of this disease and to enable development of adequate services for PWD and their caregivers.

Introdução: A demência de início precoce ( early onset dementia , EOD) vem sendo reconhecida como um importante problema clínico e social devido aos efeitos sobre a saúde física e mental das pessoas com demência e seus cuidadores. Objetivo: Analisar o impacto psicossocial da EOD em cuidadores familiares. Métodos: O estudo baseia-se na metodologia qualitativa. Foram realizadas entrevistas semiestruturadas com nove cuidadores EOD (sete mulheres) recrutados em um serviço para doença de Alzheimer. Utilizou-se análise fenomenológica interpretativa para analisar as narrativas dos cuidadores. Resultados: Cinco temas emergiram das narrativas: impacto psicológico e emocional; impacto físico; impacto financeiro e profissional; impacto social e necessidade de serviços de apoio. A maioria dos cuidadores percebe seu bem-estar emocional como ruim ou extremamente ruim. Os cuidadores reconhecem prejuízos na saúde física, que tendem a ser mais duradouros do que os problemas de saúde mental. Dois cuidadores tiveram que se aposentar após o diagnóstico de demência, e sete diminuíram sua carga de trabalho porque tinham que cuidar dos pacientes. Preservar as habilidades das pessoas com demência é essencial para manter a sua autoestima, dignidade e sentimento de utilidade. Para os cuidadores, intervenções e atividades de estimulação fazem com que as pessoas com demência se sintam mais úteis e contribuam para uma vida melhor. Conclusão: Os cuidadores de pessoas com EOD assumem prematuramente o papel de cuidador e precisam equilibrar esta atividade com outras responsabilidades. Há necessidade de mais estudos sobre EOD, a fim de se obter uma melhor compreensão do impacto da doença e para o desenvolvimento de serviços adequados para pacientes e seus cuidadores.

A Case of Progressive Multifocal Leukoencephalopathy in Acquired Immune Deficiency Syndrome Initially Presented with Early Onset Dementia

Progressive multifocal leukoencephalopathy (PML) is a very rare and often fatal demyelinating disease of central nervous system (CNS), which mostly occurs in patients with immunosuppression such as acquired immunodeficiency syndrome (AIDS) patients, transplant patients and patients receiving chemotherapy. PML usually manifests with acute or subacute neurologic deficit. and its late diagnosis may lead death or significant permanent disability. We report a 33-year old man diagnosed with PML in AIDS, who initially presented with gradual onset of dementia. Most symptoms of PML were progressed rapidly for several months, and characterized by focal neurological symptoms. On the other hand, we were experienced in patients without focal neurological symptoms and ongoing overall cognitive decline slowly. Patients with immunosuppression can be presented in a variety of neurological symptoms, detailed examinations for cognitive functions were needed in early stage of the disease.