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Dementia Care Research and Psychosocial Factors.
Alzheimers Dement
December 2024
Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellin, Colombia.
Background: Genetic testing for individuals with dominantly inherited Alzheimer's disease (DIAD) is now of greater relevance due to the existence of therapeutic trials available to this population. However, the impact and main drivers influencing the decision to seek genetic testing are relatively unknown in Latin America (LatAm). Here we present results from a regional genetic counseling and testing protocol implemented in LatAm.
View Article and Find Full Text PDFDementia Care Research and Psychosocial Factors.
Alzheimers Dement
December 2024
University of Pennsylvania, Philadelphia, PA, USA.
Background: With the advent of FDA approved anti-amyloid therapy and recognition of increased side effects in APOE e4 carriers, APOE testing is now recommended for patients considering anti-amyloid therapies such as lecanemab. Given the therapeutic implications and anticipated volume of eligible patients, the traditional model of in-person, pre- and post-test genetic counseling is not feasible to incorporate in clinical pathways. Alternative delivery models, including digital tools and telehealth, will be key in providing APOE genetic counseling support.
View Article and Find Full Text PDFDementia Care Research and Psychosocial Factors.
Alzheimers Dement
December 2024
Department of Clinical, Educational, and Health Psychology, Division of Psychology and Language Sciences, University College London, London, United Kingdom.
Background: Familial frontotemporal dementia is an autosomal dominant heritable form of frontotemporal dementia, a form of dementia characterised by changes in personality, behaviour and communication which typically onsets in mid-life. Children of an affected parent are at 50% risk of inheriting the responsible genetic mutation and developing frontotemporal dementia themselves. Individuals living at-risk have high psychological morbidity, for example they report struggling with guilt and anxiety about risk to themselves and their children, decisions about whether to get tested, uncertainty about onset of symptoms, and see their risk as a barrier in life.
View Article and Find Full Text PDFDementia Care Practice.
Alzheimers Dement
December 2024
Indiana University School of Medicine, Indianapolis, IN, USA.
Current joint practice guidelines (PG) on genetic counseling and testing for Alzheimer's disease (AD), published in 2011 by the National Society of Genetic Counselors (NSGC) and American College of Medical Genetics), recommend against clinical APOE genetic testing. These recommendations were largely followed, as seen in a survey of AD Research Centers in 2019 where only 7% of centers reported disclosure of APOE to research participants. However, because the risk of amyloid related imaging abnormalities (ARIA) associated with anti-amyloid therapy is increased for those with one or two copies of APOE e4, the FDA now endorses APOE testing for those considering this treatment.
View Article and Find Full Text PDFOrofacial Cleft and Its Association with Consanguineous Marriage and Other Risk Factors: A Case-control Study from a Tertiary Care Hospital in Jammu Province.
Int J Clin Pediatr Dent
November 2024
Department of Pediatric and Preventive Dentistry, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Background: Orofacial cleft is among the most common craniofacial malformations. It presents a complex and multifactorial etiology that involves genetic and environmental factors. One of the etiological factors is consanguinity (marriage between blood relatives).
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