Dementia e Neuropsychologia最新文献

Aging in people with Down syndrome (DS) is often marked by functional decline. People with DS present different degrees of language impairment, which may impact functionality.

Objective: To assess language abilities and functionality in older people with DS.

Methods: Forty individuals with DS aged 35 years or older were subdivided into literate and non-literate groups. The Arizona Battery for Communication Disorders in Dementia (ABCD), Object and Action Naming Battery (OANB), and Lawton & Brody Activities of Daily Living (ADL) Scale were used for linguistic and functional assessments.

Results: The literate group performed better functionally and in all ABCD subdomains (apart from Linguistic Expression) and OANB. There was an association between Word Learning, Repetition, Generative Naming, and functionality in the literate group. In the non-literate group, Word Learning, Object Description, Comparative Questions, and Repetition were associated with total functional scores.

Conclusion: Functional performance was associated with different linguistic tasks in the literate (verbal memory and executive functions) and non-literate (verbal memory and lexico-semantic process) groups.

The polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-Nasu-Hakola disease-is a hereditary and progressive pathology, which is mainly associated with pre-senile dementia and changes in bone architecture.

Objective: To report two rare cases of sibling patients treated with early-onset dementia syndrome with genetic etiology, and to review the literature on the topic.

Methods: Review of medical records, interviews and recording of the diagnostic methods to which patients were subjected. From this, a report was prepared of two cases who began behavioral changes in the third decade of life, who developed, at different times, symptoms of similar cognitive impairment. Bibliographic research carried out in the United States National Library of Medicine (PubMed), Medical Literature Analysis and Retrieval System Online (MEDLINE), Latin American and Caribbean Health Sciences Literature (LILACS), UpToDate and Scientific Electronic Library Online (SciELO) databases for bibliographic review.

Results: Two clinical cases with genetic confirmation of Nasu-Hakola disease and a brief literature review were described.

Conclusion: These cases illustrate a presentation of pre-senile dementia syndrome and reinforce the importance of adequate diagnosis for timely treatment, humanized multidisciplinary follow-up aiming to improve quality of life, as well as genetic and family counseling.

The immune system plays a fundamental role in protecting human body organs and tissues; however, when exacerbated, it can contribute to the pathology of various conditions. In the central nervous system, immune cell activation, or neuroinflammation, is a key factor in several neurodegenerative diseases. In Down syndrome (DS), the additional copy of chromosome 21 alters gene expression, potentially enhancing inflammatory processes such as neuroinflammation. Therefore, understanding the genetic factors influencing neuroinflammation in DS is essential for identifying biomarkers and therapeutic targets.

Objective: Identify genetic markers involved in neuroinflammatory processes in individuals with DS.

Methods: A comprehensive search was conducted in Medical Literature Analysis and Retrieval System Online (Medline) (United States National Library of Medicine [PubMed]), Embase, Cochrane Library, and Latin American and Caribbean Health Sciences Literature (LILACS) databases, and identified ten relevant studies. These studies assessed and compared gene expression between groups with and without DS associated with neuroinflammation.

Results: Sixty-three genes and 42 genetic markers associated with neuroinflammation in DS were identified. These genes exhibited expression variations that alter inflammatory responses, suggesting a possible link to the progression of neurodegenerative diseases in this population.

Conclusions: The findings highlight the role of neuroinflammation in neurodegenerative disorders in individuals with DS, especially Alzheimer's disease. Some studies indicated that the triplicated genes SOD1, APP, S100B, TREM2, IFNR1, and IFNR2 are directly related to neuroinflammation. Additionally, elevated levels of pro-inflammatory cytokines, such as IL-1, IL-6, IL-10, IFNγ, and TNF-α, and complement proteins like C1q, C3, and C9 suggest an exacerbated activation of the immune response. However, the roles these genes may play in neurodegenerative diseases and in increasing or reducing neuroinflammation remain controversial.

Down syndrome regression disorder (DSRD) is characterized by an acute or subacute neurocognitive regression that severely impacts the autonomy and quality of life of individuals with Down syndrome (DS). Despite its growing recognition, understanding of the condition remains limited, particularly regarding its etiology and the factors contributing to its development.

Objective: The aim of this study was to systematically map the available evidence regarding the potential causes of DSRD and the factors that may contribute to its development.

Methods: Following the Joanna Briggs Institute (JBI) methodology for scoping reviews, a comprehensive three-step search strategy was conducted across MEDLINE (PubMed), Embase, Cochrane, and Lilacs. Studies published in any language were considered, with no restrictions on publication date.

Results: In total, 14 studies met the eligibility criteria. The findings consistently point to chronic autoimmunity and immune dysregulation as potential causes of DSRD. Additionally, the contribution of genetic variants associated with the type 1 interferon inflammatory response has been suggested. Finally, the role of psychosocial and environmental stressors was highlighted, as these are considered potential triggers that precede the onset of DSRD manifestations.

Conclusion: The hypothesis that DSRD is a multifactorial condition seems reasonable. Nevertheless, the immune system may play a central role in its development, as the identified causes converge toward a neuroinflammatory process. Furthermore, the contribution of genetic variants associated with the inflammatory response and the role of psychosocial stressors as triggers for DSRD also appear plausible.

Epilepsy with myoclonic-atonic seizures (EMAS), or Doose syndrome, is characterized by the presence of atonic-myoclonic seizures that begin in childhood between 7 months and 6 years of age, which may present with cognitive and behavioral changes.

Objective: The aim of this present study was to evaluate adaptive behavior, performance on intelligence and neuropsychological tests, and verify the association of autism spectrum disorder and attention deficit hyperactivity disorder in patients diagnosed with EMAS compared with a control group of healthy children.

Methods: We included nine patients with EMAS and nine healthy controls, assessed by scales of adaptive behavior development, autism spectrum disorder, attention deficit and hyperactivity, and intelligence and neuropsychological tests.

Results: The results revealed that in the intelligence and neuropsychological tests, there was a significant difference between the groups (p>0.05), with worse performance for the EMAS group. In the latter group, eight patients showed some symptoms of attention deficit hyperactivity disorder and none showed symptoms of autism spectrum disorder or changes in adaptive behavior.

Conclusion: These findings show the relevance of investigating cognitive and behavioral profiles in this population in order to address specific impairments in their everyday life activities.

The increasing aging of the world's population has motivated studies leading to initiatives like developing online and face-to-face cognitive stimulation programs targeting typical and atypical aging populations. The decline in episodic memory (EM) capacity is one of the hallmarks of cognitive decline in Alzheimer's disease.

Objective: The study analyzes the effect of a telepractice, composed exclusively of language activities, on five tasks of EM by comparing their scores in pre- and post-intervention assessments.

Methods: Forty-nine (49) women aged 57-83 years (mean 68.1), with 6-22 (mean 15.1) years of formal education, engaged in a 15-session online intervention program delivered daily during the COVID-19 pandemic. A pre- and post-intervention cognitive assessment was administered, including five tasks assessing EM: two subtests of the verbal learning task of the Battery for the Assessment of Language in Aging (BALE) (free recall and with cues), the delayed recall subtest of the Addenbrooke's Cognitive Examination-Revised (ACE-R), the recall of the Brief Cognitive Screening Battery (BBRC) and the Face and Name Recall Test.

Results: EM scores were consistently higher in the post-intervention assessments, with a significant improvement observed in four of the five EM tasks.

Conclusion: The results bring implications for further research about telepractice, suggesting that typical older adults can benefit from language-based cognitive stimulation to prevent, reduce, or rehabilitate EM deficits.

Prescription of psychotropic drugs and potentially inappropriate medications (PIMs) for older adults is a common condition. Assessing the factors associated with this prescription is essential especially within the hospital setting, requiring the implementation of strategies for promoting rational use of medications in this age group.

Objective: To evaluate factors associated with the use of psychotropic drugs in hospitalized older adults.

Methods: Cross-sectional study, conducted at Hospital das Clínicas de Botucatu, Brazil. Patients were divided into clinical patients taking or not taking psychotropic drugs and surgical patients taking or not taking psychotropic drugs. Multivariate analysis was performed, adopting "use or non-use of psychotropic drugs" and "having geriatrician as prescriber before hospitalization or otherwise", as dependent variables.

Results: Of the 385 participants, 60% practiced polypharmacy and 55% were in use of PIM. Clinical patients using psychotropic drugs took more PIM (p<0.001) and more medications (p=0.002) than non-users. For the total sample, PIM use was associated with a 4.53 times greater chance of taking psychotropic drugs, and each additional medication used was associated with a 1.15 times greater chance of taking psychotropic drugs. Being accompanied by a geriatrician before hospital admission was associated with a 4.0 times greater chance of no PIM being prescribed.

Conclusion: PIM use and polypharmacy were associated with an increased chance of taking psychotropic drugs. Being accompanied by a geriatrician before hospitalization was associated with a lower chance of PIM use.

Alzheimer's disease (AD) has significant physical, psychological, and socioeconomic impacts, shortens life expectancy, and reduces quality of life. Non-pharmacological interventions (NPIs) in dementia provide health gains.

Objective: The aim of this study was to conduct a cost-utility study of NPIs in AD, assessing both the costs and health gains associated with cognitive stimulation interventions in AD patients.

Methods: A sample of 40 patients undergoing NPIs and another 40 individuals (control group) were included. Data collected included sociodemographic, clinical, cognitive, and functional information, as well as health status, quality of life, and outpatient costs.

Results: The NPI, considering the discounted cost value of €21,621.31 and the discounted quality-adjusted life year (QALY) gain of 0.81333, resulted in an estimated cost per QALY of €26,583.76. This cost per QALY is within the threshold generally considered acceptable by regulatory authorities in Portugal and in several European countries.

Conclusion: This study supports the recommendation that interventions adjusted to the needs of patients with AD should be implemented, which may include NPIs providing both health gains and economic value.

The brain's ability to adapt in response to stimuli is called neuroplasticity.

Objective: This study investigates neuroplasticity in autistic individuals, focusing on neurobiological aspects, clinical correlations, and therapeutic interventions.

Methods: This systematic review, registered in the International Prospective Register of Systematic Reviews-PROSPERO (ID: CRD42024522425) and guided by Preferred Reporting Items for Systematic Reviews and Meta-Analyses-PRISMA (2020) criteria, searched databases like Web of Science, Scopus, United States National Library of Medicine/ Medical Literature Analysis and Retrieval System Online (PubMed/Medline), Latin American and Caribbean Health Sciences Literature (LILACS), and Scientific Electronic Library Online (SciELO) for original articles published in 2018-2023.

Results: Of the 2,316 studies found, 11 were selected, involving 1,943 autistic individuals, both children and adults. Most studies were classified as high/moderate quality using the Newcastle-Ottawa and Jadad scales. Observations included variations in SHANK2 gene expression, lower concentrations of α-synuclein, higher β-synuclein in children with autism spectrum disorder (ASD), correlations between NCAM1 expression and motor skills, and higher brain-derived neurotrophic factor (BDNF) concentration compared to non-autistic children.

Conclusions: Alterations in SHANK2, α-synuclein, β-synuclein, NCAM1, and BDNF in ASD suggest biomarkers and therapeutic targets for more effective interventions, improving care for autistic individuals.