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Purpose of Review: People with Down syndrome represent the world's largest population with a genetic risk for Alzheimer's disease. This review will provide a short summary of what is known and will include recent findings from the field., Recent Findings: There has been an increasing focus on biomarker research in this population, with a number of studies presenting findings on promising new markers - Neurofilament Light (NfL) appears to be one such promising marker that has emerged. Imaging studies have increased our knowledge on the progression of Alzheimer's disease in this population., Summary: The inclusion of people with Down syndrome in dementia research is vital from a scientific and an equity perspective. Recent advances in the field can have further impact with multisite, cross country collaborative efforts. For this to happen, instruments need to be validated across language and cultures.

Background: People with an intellectual disability (ID) are vulnerable to communication impairments, with consequences for employment, education, and social participation., Aims: To identify the communication skills of a population of adults (40+ years) with ID and explore relationships between individual and environmental factors and communication skills., Methods and Procedures: Data from a sample of 601 adults with ID was selected from the Intellectual Disability Supplement to The Irish Longitudinal Study on Ageing (IDS-TILDA) addressing communication characteristics, demographics, co-morbidities, challenging behaviours, and social participation. A multiple regression model and a decision-making tree were built to identify factors related to communication abilities., Outcomes and Results: Overall, 57.9 % of participants experienced communication difficulties, with 23.5 % reporting severe difficulties. Only 75.1 % of participants communicated verbally; more than half found communicating with professionals and non-familiar partners difficult. Level of ID, low social participation, challenging behaviours, and diagnosis of Down syndrome were significantly associated with communication difficulties., Conclusions and Implications: Communication difficulties are prevalent in adults with ID and are influenced by complex factors. Interventions to enhance interaction and quality of life of individuals with ID should consider communication opportunities, needs, and barriers., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Background: Individuals with Down syndrome (DS) are at much greater risk of developing Alzheimer's disease, and one of the early clinical symptoms of Alzheimer's disease is executive dysfunction. In the general population, cognitive training has shown some promising results in relation to maintaining or improving cognitive processes. There is currently a gap in the literature in relation to cognitive training for adults with DS., Methods: A quasi-experimental mixed factorial design with partial crossover was used involving an 8-week intervention period using a brain training programme. Participants were matched on age and then randomly assigned to either the intervention group or the delayed intervention group. Forty adults with DS, aged between 30 and 49 and with a mild or moderate level of intellectual disability, participated in the study. All participants completed baseline measures of executive function, using both neuropsychological assessments and an informant-rated measure of behavioural executive function. The intervention group first completed the training and then the delayed intervention group. Executive function assessments were repeated for both groups following the training., Results: The study aimed to examine whether a cognitive training programme could have an effect on levels of executive function. While conclusions are limited owing to small sample size, improvement was seen in neuropsychological assessments of executive function following cognitive training. Positive effects reflected in everyday behaviours were not as promising., Conclusions: This study showed that, while it has not been previously an area of focus, individuals with DS can complete a computerised cognitive training programme. Furthermore, the results were promising with significant improvements found in neuropsychological assessments of executive function. These findings need further investigation with a larger sample size and would benefit from the use of a brain imaging component to strengthen the findings., (© 2019 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)

Goal: To examine dementia characteristics, age at onset and associated co-morbidities in persons with Down syndrome., Method: A total of 77 people with Down syndrome aged 35 years and older were followed up from 1996 to 2015. The diagnosis of dementia was established using the modified ICD 10 Criteria and a combination of objective and informant-based tests. Cognitive tests included the Test for Severe Impairment and the Down Syndrome Mental Status Examination; adaptive behaviour was measured using the Daily Living Skills Questionnaire, and data from the Dementia Questionnaire for People with Intellectual Disabilities have been available since 2005., Results: Over the 20-year period, 97.4% (75 of 77) persons developed dementia with a mean age of dementia diagnosis of 55 years (SD = 7.1, median = 56 years). Clinical dementia was associated with cognitive and function decline and seizure activity. Risk for dementia increased from 23% in those aged 50 years to 80% in those aged 65 years and above. There were no differences by level of ID., Conclusion: The previously reported high risk levels for dementia among people with Down syndrome were confirmed in this data as was the relationship with late onset epilepsy. The value of the instruments utilised in tracking decline and helping to confirm diagnosis is further highlighted., (© 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)

Background: To examine dementia characteristics, age at onset and associated comorbidities in persons with Down syndrome., Method: Seventy-seven people with Down syndrome aged 35 years and older were followed longitudinally. The diagnosis of dementia was established using the modified International Classification of Diseases, Tenth Revision (ICD-10) criteria and a combination of objective and informant-based tests. Cognitive tests included the Test for Severe Impairment and the Down Syndrome Mental Status Examination; adaptive behaviour was measured using the Daily Living Skills Questionnaire. The Dementia Questionnaire for Mental Retarded Persons (DMR) was added to the test battery in 2005 and this study includes follow-up data for this instrument., Results: Over the 14-year period the average age of diagnosis at 55.41 years (SD = 7.14) was in the higher range of previously reported estimates (51-56 years) and a median survival of 7 years after diagnosis. Persons with dementia in the sample were significantly older than persons without dementia. The presence of dementia was also associated with epilepsy and sensory impairments. Among instruments the DMR appeared most sensitive to tracking change in symptoms over time before diagnosis., Conclusion: The previously reported high risk levels for dementia among people with Down syndrome was confirmed in these data as was the value of the instruments utilised in tracking decline and helping to confirm diagnosis even in persons with severe intellectual disability., (© 2013 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)

Background: Consideration of the relationship between physical and mental health co-morbidities in ageing persons with Down syndrome (DS) and Alzheimer's dementia (AD) is of clinical importance both from a care and resource perspective. AIM To investigate and measure health co-morbidities in ageing persons with Down syndrome with and without AD., Methods: Recorded physical and mental health needs were ascertained for 124 persons with DS>35 years through a systematic and detailed search of individual medical and nursing case records. Differences in persons with and without AD were investigated, by stage of dementia and by level of intellectual disability (ID). A summed score for health co-morbidities was created and compared using t-tests., Results: Persons with AD had significantly higher co-morbidity scores than persons without AD (t=-8.992, d.f.=121, P<0.0001). There was also a significant difference in summed co-morbidity scores for persons at end-stage vs. persons at mid-stage AD (t=-6.429, d.f.=56, P<0.0001). No differences were found by level of ID., Conclusions: Increasing health co-morbidities in persons with DS and AD have important implications for care and resources. Appropriate environmental supports combined with competent skilled staff are crucial and will have an important impact on the quality of life for this increasingly at risk population.

A working group of the 2016 International Summit on Intellectual Disability and Dementia was charged to examine the terminology used to define and report on dementia in publications related to intellectual disability (ID). A review of related publications showed mixed uses of terms associated with dementia or causative diseases. As with dementia research in the non-ID population, language related to dementia in the ID field often lacks precision and could lead to a misunderstanding of the condition(s) under discussion, an increasingly crucial issue given the increased global attention dementia is receiving in that field. Most articles related to ID and dementia reporting clinical or medical research generally provide a structured definition of dementia or related terms; social care articles tend toward term use without definition. Toward terminology standardization within studies/reports on dementia and ID, the Summit recommended that a consistent approach is taken that ensures (a) growing familiarity with dementia-related diagnostic, condition-specific, and social care terms (as identified in the working group's report); (b) creating a guidance document on accurately defining and presenting information about individuals or groups referenced; and (c) using definitions and data, such as subjects' ages, sex, level of ID, residential situation, basis for dementia diagnosis, presence of Down syndrome (or other risk conditions), years from diagnosis, and if available, scores on objective measures of changing function, in reports on neuropathologies or cognitive decline or impairment.

Abstract: Background: The International Summit on Intellectual Disability and Dementia (Glasgow, Scotland; October 2016) noted that advanced dementia can be categorised as that stage of dementia progression characterised by significant losses in cognitive and physical function, including a high probability of further deterioration and leading to death. Method: The question before the Summit was whether there were similarities and differences in expressions of advanced dementia between adults with intellectual disability (ID) and adults in the general population. Results: The Summit noted challenges in the staging of advanced dementia in people with ID with the criteria in measures designed to stage dementia in the general population heavily weighted on notable impairment in activities of daily living. For many people with an ID, there is already dependence in these domains generally related to the individuals pre‐existing level of intellectual impairment, that is, totally unrelated to dementia. Hence, the Summit agreed that as was true in achieving diagnosis, it is also imperative in determining advanced dementia that change is measured from the person's prior functioning in combination with clinical impressions of continuing and marked decline and of increasing co‐morbidity, including particular attention to late‐onset epilepsy in people with Down syndrome. It was further noted that quality care planning must recognise the greater likelihood of physical symptoms, co‐morbidities, immobility and neuropathological deterioration. Conclusions: The Summit recommended an investment in research to more clearly identify measures of person‐specific additional decline for ascertaining advanced dementia, inform practice guidelines to aid clinicians and service providers and identify specific markers that signal such additional decline and progression into advanced dementia among people with various levels of pre‐existing intellectual impairment. [ABSTRACT FROM AUTHOR]

Abstract: Medications use in adults ageing with Down syndrome (DS) has not been studied extensively. People with DS are at increased risk of hypothyroidism, seizures, and dementia. It is possible that this pattern of multimorbidity is associated with polypharmacy. The aim of this study is to describe the patterns of medical disorders, symptoms, and medications, variation with age and residential setting, and utilization of health screening in an ageing cohort with DS. Data were obtained from wave one (2009/2010) of the Intellectual Disability Supplement to The Irish Longitudinal Study on Ageing. Information on disorders, symptoms, health screening, and medications was gathered using preinterview questionnaires and face to face interviews with participants and/or caregivers. Of the 721 participants answering the questions about medication use and cause of intellectual disability, 20% had DS (n = 144). Descriptive statistics describe the prevalence of disorders and medications and proportion of participants attending health screening for disorders commonly associated with DS. The most commonly reported disorders were eye disease (61.8%), thyroid dysfunction (38.2%), constipation (34.7%) high cholesterol (32.6%), pain (32.1%), and emotional/psychiatric/nervous disorder (25%). The most commonly reported medications were thyroid hormones (43.8%), laxatives (27.1%), pain relievers (27.1%), and lipid modifying agents (26.4%). Polypharmacy, excessive polypharmacy, and multimorbidity were more prevalent among the older group compared to the younger group (37.3% vs. 14.3%; 13.4% vs. 7.8%; 73.1% vs. 58.4%, respectively). Uptake of memory assessments (32.9%), hearing tests (23.8%), and bone density screening (9.2%) was poor, particularly among those living independently, yet general practitioner visits were frequent and extensive. Polypharmacy and excessive polypharmacy are prevalent in this population, yet the provision of health care screening is inadequate. Medications review is needed since the risks posed by multiple medications use have not yet been quantified. As people with DS age, support is necessary for health care professionals, people with DS and their carers to help them optimize the use of medications. [ABSTRACT FROM AUTHOR]

Objective: To assess the influence of diastolic dysfunction on the evolution of pulmonary hypertension in neonates with Down Syndrome over the early newborn period.Study Design: This was a prospective observational cohort study. Echocardiography was performed three times over the first week of life in both Down syndrome and control cohorts. Measurements of pulmonary arterial pressure in addition to left ventricular (LV) and right ventricular systolic and diastolic function were collected.Results: Seventy babies with Down syndrome and 60 control infants were enrolled. Forty-eight of the infants with Down syndrome (69%) were born with congenital heart disease (CHD). Echocardiography surrogates of pulmonary hypertension and myocardial function remained significantly impaired in the Down syndrome group in comparison with control infants (all P < .01). In the Down syndrome group, LV early diastolic strain rate was independently associated with measures of pulmonary hypertension while controlling for gestational age, cesarean delivery, and the presence of CHD (P < .01).Conclusions: Intrinsic LV diastolic impairment is directly associated with higher indices of pulmonary hypertension in infants with Down syndrome and may be a contributing factor to its evolution. [ABSTRACT FROM AUTHOR]