Background As life expectancy of people with Down syndrome (DS) increases, so does the risk of Alzheimer’s disease (AD). Identifying symptoms and tracking disease progression is especially challenging whenever levels of function vary before the onset of dementia. Goal Attainment Scaling (GAS), an individualized patient-reported outcome, can aid in monitoring disease progression and treatment effectiveness in adults with DS. Here, with clinical input, a validated dementia symptom menu was revised to facilitate GAS in adults living with Down Syndrome-associated Alzheimer’s disease (DS-AD). Methods Four clinicians with expertise in DS-AD and ten caregivers of adults living with DS-AD participated in semi-structured interviews to review the menu. Each participant reviewed 9–15 goal areas to assess their clarity and comprehensiveness. Responses were systematically and independently coded by two researchers as ‘clear’, ‘modify’, ‘remove’ or ‘new’. Caregivers were encouraged to suggest additional items and recommend changes to clarify items. Results Median caregiver age was 65 years (range 54–77). Most were female (9/10) with ≥15 years of education (10/10). Adults with DS-AD had a median age of 58 years (range 52–61) and either a formal diagnosis (6/10) or clinical suspicion (4/10) of dementia. The initial symptom menu consisted of 67 symptoms each with 2–12 descriptors (589 total). The clinicians’ adaptation yielded 58 symptoms each with 4–17 descriptors (580 total). Of these 580 descriptors, caregivers identified 37 (6%) as unclear; these were reworded, and one goal area (4 descriptors) was removed. A further 47 descriptors and one goal area were added to include caregiver-identified concepts. The final menu contained 58 goal areas, each with 7–17 descriptors (623 total). Conclusions A comprehensive symptom menu for adults living with DS-AD was developed to facilitate GAS. Incorporating expert clinician opinion and input from caregivers of adults with DS-AD identified meaningful items that incorporate patient/caregiver perspectives.

People with neurogenic bladder and/or bowel dysfunction experience diverse challenges that can be difficult to evaluate with standardized outcome measures. Goal attainment scaling (GAS) is an individualized, patient-centric outcome measure that enables patients/caregivers to identify and track their own treatment goals. Because creating goals de novo can be cumbersome, we aimed to develop a neurogenic bladder/bowel dysfunction goal menu to facilitate goal attainment scaling uptake and use. Methods:We conducted a workshop with 6 expert clinicians to develop an initial menu. Individual interviews with 12 people living with neurogenic bladder and/or bowel dysfunction and 2 clinician panels with 5 additional experts aided us in refining the menu. A thematic framework analysis identified emergent themes for analysis and reporting.Results: Interview participants were adults (median = 36 years, range 25-58), most with spinal cord injury (75%; 9/12). Of 24 goals identified initially, 2 (8%) were not endorsed and were removed, and 3 goals were added. Most participants listed "Impact on Life" goals (eg, Exercise, Emotional Well-Being) among their 5 most important goals (58%; 35/60). Three main themes emerged: challenges posed by incontinence, limitations on everyday life, and need for personalized care. Conclusions:We developed a clinical outcome assessment tool following a multistep process of representative stakeholder engagement. This patient-centric tool consists of 25 goals specific to people living with neurogenic bladder and/or bowel dysfunction. Asking people what matters most to them can identify important constructs that clinicians might have overlooked.

Background: Adults with Down syndrome (DS) face a markedly increased risk of Alzheimer's disease (AD). LIFE-DSR is a 32-month longitudinal study of adults with DS aiming to characterize and assess change in cognition, behaviour, function, and health. Goal Attainment Scaling (GAS) is a patient-centric outcome measure. It evaluates change in goals that are meaningful to participants/caregivers and has proven a valuable and sensitive instrument in dementia clinical trials. To assess the feasibility of using GAS in the DS population and to better understand what is most important to them, the LIFE-DSR-GAS sub-study is enrolling and following participants and their caregivers over 16 months. Method:Participants with DS and their caregivers who consented to the LIFE-DSR-GAS sub-study took part in an initial goal-setting interview with a trained GAS rater to identify meaningful goal areas related to the participant's condition. Change in these goals was then rated at two follow-up interviews at 3 and 16 months. To aid in goal setting, a menu of 58 common DS-AD goal areas was developed pre-study through interviews with expert clinicians and caregivers. A secondary objective is to evaluate this menu in both its comprehensiveness and usefulness as a resource to improve GAS implementation in DS-AD studies. Result: To date, 31 (of 45) participants with DS and their caregivers have enrolled across three U.S. study sites. All participants have set three goals (the recommended minimum). The mean (standard deviation) time to conduct the interviews was 43.2 (7.5) minutes. 20 participants have completed a 3-month follow-up interview; the mean time taken was 18.2 (10.4) minutes. Most goals (83/93) set to date were selected from the DS-AD menu. The most frequent goals concerned aspects of daily function: Household Chores (8 goals), Personal Care and Hygiene (8), and Meal-Time Preparation and Activities (7). Conclusion:Evaluating health outcomes in people with DS is challenging due to varying levels of baseline cognition and function, further complicated by the onset of dementia.There is a critical need for sensitive and valid measures that capture this heterogeneity.Our early data suggest that GAS may offer a feasible solution.

Background People with Down syndrome are at an increased risk of developing Alzheimer’s Disease. As many more individuals with Down syndrome are now living into older adulthood, the prevalence of Alzheimer’s disease has risen significantly in this group. Identifying dementia symptoms in this setting can be daunting due to heterogeneous baseline function, cognition, and behaviour. Here, we interviewed caregivers to elicit their impressions of the most meaningful symptoms and challenges for people with Down Syndrome and dementia. Method Initially, a dementia symptom menu was adapted for Down syndrome by four expert clinicians. We then recruited 10 caregivers of people with Down syndrome and dementia. Semi‐structured interviews began with open‐ended discussion of symptoms and challenges, followed by an in‐depth menu review. Interviews were facilitated by a research nurse, audio recorded and transcribed verbatim. Transcripts were reviewed by two researchers who coded quotes independently. Codes were discussed to identify emergent themes. Result Caregivers ranged from 54‐77 years of age (median 65). Most were female (9/10) with ≥15 years of education (10/10). The person they cared for was 52‐61 years (median 58) with Down syndrome and a formal diagnosis (6/10) or clinical suspicion (4/10) of dementia. Chiefly, two themes were identified: caregiver burden and healthcare difficulties. Caregiver burden was expressed in many ways such as increased responsibilities, financial impact and emotional toll. Caregivers also described challenges with medical professionals who were not well‐equipped for these patients (“One [physician] was very honest with me and said ‘I have to tell you; I have no clinical experience with this’”). This was particularly noted by caregivers in rural areas. When asked to list their five most meaningful symptoms, caregivers reported behavioural changes (13/50, e.g. irritability/frustration) followed by cognitive decline (12/50, e.g. verbal repetition) and physical manifestations (11/50, e.g. incontinence). Conclusion In eliciting views about the most meaningful symptoms and challenges, semi‐structured interviews identified two main themes: caregiver burden and healthcare difficulties. Although in people without Down syndrome cognitive decline is the hallmark of dementia, here caregivers interviewed frequently reported changes in behaviour and physical manifestations as most meaningful.

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