How do typically developing brothers and sisters accept their siblings with Down syndrome or autism? An examination of personal characteristics.

To create a motor growth curve based on the Test of Basic Motor Skills for Children with Down Syndrome (BMS) and estimate the age of achieving BMS milestones. A multilevel exponential model was applied to create a motor growth curve based on BMS data from 119 children with Down syndrome (DS) aged 2 months to 5 years. Logistic regression was applied to estimate the 50% probability of achieving BMS milestones. The BMS growth curve had the largest increase during infancy with smaller increases as children approached the predicted maximum score. The age at which children with DS have a 50% probability of achieving the milestone sitting was 22 months, for crawling 25 months, and for walking 38 months. The creation of a BMS growth curve provides a standardization of the gross motor development of children with DS. Physical therapists then may monitor a child's individual progress and improve clinical decisions.

In this study, we examine instrumental and affective involvement in the sibling relationship for adults who have a brother or sister with an autism spectrum disorder (ASD) or Down syndrome (DS). We ask three research questions: (1) How do adult siblings of individuals with ASD differ from siblings of individuals with DS in their assessment of the quality of the sibling relationship and their experience of growing up with a brother or sister with a disability? (2) Are there gender effects on the sibling relationship and sibling experience in these two groups? (3) Which factors are predictive of variation in the sibling relationship for siblings of adults with ASD or DS? Data from 154 siblings who participated in two linked longitudinal studies were used. Seventy-seven siblings with a brother or sister with ASD were matched by age and gender to 77 siblings with a brother or sister with DS. The siblings in each group were between 21 and 56 years of age and over half were sisters. Siblings completed questionnaires on instrumental and affective involvement with their brother or sister with ASD or DS, the impact of growing up with a brother or sister with a disability on their lives, and their coping skills and feelings of pessimism. Compared with the siblings of adults with DS, siblings of adults with ASD had less contact with their brother or sister, reported lower levels of positive affect in the relationship, felt more pessimistic about their brother or sister's future, and were more likely to report that their relationships with their parents had been affected. For siblings of adults with ASD, a closer sibling relationship was observed when the sibling had lower educational levels, lived closer to the brother or sister with ASD, used more problem-focused coping strategies, and when his or her brother or sister with ASD had higher levels of functional independence. In contrast, for siblings of adults with DS, a closer sibling relationship was observed when the sibling did not have children, had lower levels of education, lived closer to the brother or sister with DS, when he or she used more problem-focused coping, was less pessimistic about the brother or sister's future, and when his or her life had been impacted to a greater extent by growing up with a brother or sister with DS. We discuss the implications of these findings for future caregiving roles for siblings. Siblings of individuals with ASD may face difficulty when their parents are no longer able to be the primary caregivers for their brother or sister with ASD, as they tend to have less emotional closeness and are more pessimistic about their brother or sister's future than siblings of individuals with DS. Moreover, in both groups, a closer sibling relationship was observed when the sibling used more problem-focused coping strategies, which may have implications for intervention.

The purposes of this study were to investigate the level of functional independence of adolescents and adults with Down syndrome (DS) and to examine the influence of their demographic characteristics, level of disability, and comorbidities on their functional independence. The study population was obtained from the voluntary registry members of the Republic of China Foundation for Persons with DS in Taiwan. Two hundred and sixteen adolescents and adults with DS (≧15 years) whose caregivers had completed valid structured questionnaires were recruited for the study. The present study used the Barthel Index (BI) of activities of daily living (ADL) to determine a baseline level of physical functioning in people with DS. The results showed that 1·9% of the cases were severely dependent (BI score 21–60), 20·4% of the cases were moderately dependent (BI score 61–90), 8·3% of the cases were mildly dependent (BI score 91–99), and 69·4% of the cases were totally independent (BI score 100). The multiple logistic regressions indicated that those DS respondents with milder disability level, no comorbidity conditions, and lower risk for dementia were more likely to be functional independence than their counterparts. of the respondents with DS. Regarding the improvement of the quality of life of people with DS, this study highlights the fact that action should be taken to increase the awareness of the functional independence among adults with DS and that specific interventions should be taken to improve the ability of adults with DS to carry out their activities of daily living.

Chapter Five - Cancer among Persons with Down Syndrome

Impaired muscle strength, proprioceptive and vestibular deficits, and orthopedic dysfunction are common disorders associated with Down syndrome (DS). Hippotherapy uses the horses' multidimensional movement to improve posture, balance, and overall function, both motor and sensory. Research evidence supports hippotherapy as an effective, medically recognized intervention for the rehabilitation of gross motor skills. The aim of this study was to determine the effect of hippotherapy on balance, functional mobility, and functional independence in children with DS. Thirty-four children with DS were randomly assigned to the experimental (hippotherapy) and control groups after the initial assessment. Both groups received physiotherapy including balance exercises, and the experimental group also received hippotherapy as an integrative therapy. Pediatric Balance Scale (PBS), Timed Up and Go Test (TUG), and Functional Independence Measure for Children (WeeFIM) were used before and after the intervention. Baseline outcome measures (PBS, TUG, WeeFIM) were statistically similar between groups (p> 0.05). After the intervention, PBS and TUG scores improved in both groups (p < 0.05). On the other hand, WeeFIM scores improved just in the hippotherapy group (p < 0.05). Conclusion: Therefore, providing hippotherapy as an integrative therapy to physiotherapy will be more effective in improving the functional independence of children with DS. Trial registration: NCT05297149 (March 2022, retrospectively registered). What is Known: • Hippotherapy has an improvement effect on balanceand functional independencein different diseases and age groups, but the evidence is limited in DS. • There is limited evidence about the effect of hippotherapy on functional mobility in different diseases and age groups, but there is no evidence in DS. What is New: • Hippotherapy is a safe and effective approach to support improvement in functional independence in children with DS.

The combined effects of ligamentous laxity, hypotonia, and decrements associated with aging lead to stability-enhancing foot placement adaptations during routine overground walking at a younger age in adults with Down syndrome (DS) compared to their peers with typical development (TD). Our purpose here was to examine real-time adaptations in older adults with DS by testing their responses to walking on a treadmill at their preferred speed and at speeds slower and faster than preferred. We found that older adults with DS were able to adapt their gait to slower and faster than preferred treadmill speeds; however, they maintained their stability-enhancing foot placements at all speeds compared to their peers with TD. All adults adapted their gait patterns similarly in response to faster and slower than preferred treadmill-walking speeds. They increased stride frequency and stride length, maintained step width, and decreased percent stance as treadmill speed increased. Older adults with DS, however, adjusted their stride frequencies significantly less than their peers with TD. Our results show that older adults with DS have the capacity to adapt their gait parameters in response to different walking speeds while also supporting the need for intervention to increase gait stability.

Higher engagement in moderate-intensity physical activity (PA) is related to better cognitive functioning in neurotypical adults; however, little is known about the effect of PA on cognitive aging in adults with Down syndrome (DS). Individuals with DS have three copies of chromosome 21, which includes the gene involved in the production of the amyloid precursor protein, resulting in an increased risk for an earlier onset of Alzheimer’s disease (AD). The goal of this study was to understand the relationship between engagement in moderate PA, memory, and hippocampal volume in adults with DS. Adults with DS participated in an ancillary Lifestyle study linked to the Alzheimer’s Biomarkers Consortium for DS (ABC- DS; N = 71). A within-sample z-score memory composite was created from performance on the Cued Recall Test (CRT) and the Rivermead Picture Recognition Test. Participants wore a wrist-worn accelerometer (GT9X) to measure PA. Variables of interest included the average percentage of time spent in moderate PA and average daily steps. Structural MRI data were acquired within 18 months of actigraphy/cognitive data collection for a subset of participants (n = 54). Hippocampal volume was extracted using Freesurfer v5.3. Associations between moderate PA engagement, memory, and hippocampal volume were evaluated with hierarchical linear regressions controlling for relevant covariates [age, body mass index, intellectual disability level, sex, and intracranial volume]. Participants were 37.77 years old (SD = 8.21) and were 55.6% female. They spent 11.1% of their time engaged in moderate PA (SD = 7.5%) and took an average of 12,096.51 daily steps (SD = 4,315.66). After controlling for relevant covariates, higher memory composite score was associated with greater moderate PA engagement (β = 0.232, p = 0.027) and more daily steps (β = 0.209, p = 0.037). In a subset of participants, after controlling for relevant covariates, PA variables were not significantly associated with the hippocampal volume (all p-values ≥ 0.42). Greater hippocampal volume was associated with higher memory composite score after controlling for relevant covariates (β = 0.316, p = 0.017). More PA engagement was related to better memory function in adults with DS. While greater hippocampal volume was related to better memory performance, it was not associated with PA. Greater PA engagement may be a promising lifestyle behavior to preserve memory in adults with DS.

Ultrasonic vocalization phenotypes in the Ts65Dn and Dp(16)1Yey mouse models of Down syndrome

The authors examined if body mass index (BMI), weight, and height across age groups differ between adults with Down syndrome (DS) and adults with intellectual disability but without DS. They conducted secondary analyses of cross-sectional data from 45,803 individuals from the United States from 2009 to 2014 of the National Core Indicators Adult Consumer Survey across five age groups: 18-29, 30-39, 40-49, 50-59, and 60+ years. For both men and women with DS, BMI and weight increased between the 18- to 29- and the 30- to 39-year age groups and decreased thereafter. For both men and women with intellectual disability, BMI and weight increased between the 18- to 29- and the 30- to 39-year age groups, stayed about the same until the 50- to 59-year age group, and decreased thereafter. Height demonstrated a small but significant decrease with older age in all groups. These cross-sectional comparisons indicate that BMI and weight may start decreasing at a younger age in adults with DS than in adults with intellectual disability.

BackgroundAdults with Down syndrome (DS) are at increased risk for Alzheimer's disease (AD) due to APP triplication. Cholinergic system degeneration underlies many AD‐related cognitive deficits, but cholinergic integrity in adults with DS is not well defined. We use [18F]‐fluoroethoxybenzovesamicol ([18F]‐FEOBV) PET imaging to measure regional cholinergic terminal density in adults with DS compared to age‐ and amyloid‐matched neurotypical controls.MethodSixteen non‐demented adults with DS were recruited from the Trial Ready Cohort – Down Syndrome and de novo to a cholinergic study (8 female, 35.5 years). Twenty (10 female, 35.5 years) age‐matched and fifteen (15 female, 61.5 years) amyloid‐matched participants were recruited for cognitively normal control groups. All subjects received [18F]‐FEOBV PET and MRI scans, fifteen adults with DS and amyloid‐matched individuals received amyloid scans ([11C]‐PiB or [18F]‐Florbetabir). Following normalization to MNI‐space and partial volume correction, a voxelwise t‐test compared [18F]‐FEOBV uptake between adults with DS and age‐matched controls. General linear models assessed the relationship between [18F]‐FEOBV uptake, age, or amyloid in adults with DS. Group x age and group x amyloid interaction analyses assessed if [18F]‐FEOBV relationships differed between adults with DS and control participants.ResultAdults with DS exhibited increased [18F]‐FEOBV uptake in the cerebellum, brainstem, thalamus, and cortical regions compared to age‐matched neurotypical controls (p < 0.001). They also exhibited lower uptake in cortical clusters among older participants, along with a significant age x group interaction revealing a greater reduction in adults with DS compared to controls (p < 0.005). Additionally, adults with DS displayed lower [18F]‐FEOBV uptake related to higher amyloid accumulation, showing a more significant decline compared to amyloid‐matched controls (p < 0.005). All analyses had a minimum cluster size of 50.ConclusionThese data indicate an upregulation of cholinergic terminal markers in adults with DS by early adulthood, suggesting greater subsequent declines due to age and amyloid pathology relative to controls. Significant age and amyloid associations overlap in some regions, with more clusters exhibiting significant age‐associated effects. This result suggests that declining regional [18F]‐FEOBV uptake in adults with DS is influenced by both Alzheimer's‐related pathology and aging, each playing distinct yet overlapping roles.

At present, there may be over 210,000 people with Down syndrome (DS) over the age of 55 in the United States (US) who have significant needs for augmented services due to circumstances related to ordinary and/or pathological aging. From 1979 through 2003, the birth prevalence of DS rose from 9.0 to 11.8 (31.1%) per 10,000 live births in 10 representative US regions. This increase, largely due to women conceiving after age 35, portends an ever-growing population of people with DS who may be subject to pathogenic aging. Whereas Trisomy 21 is one of the most widespread genetic causes of intellectual disability (ID), it still is one of the least understood of all genetic ID syndromes. While longevity in people with DS has improved appreciably in as modest a period as 30 years, age-specific risk for mortality still is considerably increased compared both with other people with ID or with the typically developing population. The penetrance of the phenotype is widely distributed, even though a consistent genotype is assumed in 95% of the cases. Some, but not all body systems, exhibit signs of premature or accelerated aging. This may be due to both genetic and epigenetic inheritance. We now know that the long-term outcome for people with DS is not as ominous as once contemplated; a number of people with DS are living into their late 60s and 70s with few if any major signs of pathogenic aging. Alzheimer's disease (AD), a devastating disease that robs a person of their memory, abilities and personality, is particularly common in elder adults with DS, but is not a certainty as originally thought, some 20% to 30% of elder adults with DS might never show any, or at most mild signs of AD. DS has been called a mature well-understood syndrome, not in need of further research or science funding. We are only beginning to understand how epigenetics affects the phenotype and it may be feasible in the future to alter the phenotype through epigenetic interventions. This chapter is divided into two sections. The first section will review typical and atypical aging patterns in somatic issues in elder adults with DS; the second section will review the multifaceted relationship between AD and DS.

Predicting METs from the heart rate index in persons with Down syndrome.

The reduced gait stability and aerobic fitness of people with Down syndrome (DS) may increase their rate of gross oxygen uptake (gross-VO(2)) during over-ground walking. If so, the ACSM equation predicting gross-VO(2) from speed may not be appropriate and an equation specifically for these individuals may be needed. This study therefore examined whether the relationship between gross-VO(2) and speed differs between individuals with and without DS during over-ground walking and attempted to develop a gross-VO(2) prediction equation for people with DS. Gross-VO(2) was measured in 18 persons with DS (24.7±6.8years; 8 men) and 22 persons without DS (25.9±4.8years; 9 men) at rest and during five over-ground walking trials, each lasting 6min, at 0.5, 0.75, 1.0, 1.25, and 1.5m/s. Multi-level modeling with random intercepts and slopes demonstrated significant effects of speed, group, group-by-speed interaction, and speed squared (P<0.001). In each group, actual gross-VO(2) did not differ from gross-VO(2) predicted by the regression equation across speeds. Bland-Altman plots showed somewhat greater variability in the difference between actual and predicted gross-VO(2) for participants with DS. Mean absolute error of prediction was 10.75 and 10.67% for participants with and without DS, respectively. In participants with DS, the ACSM formula under-estimated gross-VO(2) across speeds, whereas, in participants without DS, only at 1.5m/s (P<0.001). Therefore, individuals with DS show altered curvilinear gross-VO(2) to speed relationship during over-ground walking. The present regression equation appears to offer accurate prediction in people with DS and could be used for prescribing over-ground walking intensities.

Parental Characteristics, Parenting Style, and Behavioral Problems Among Chinese Children with Down Syndrome, Their Siblings and Controls in Taiwan

ImportanceAs the life expectancy of people with Down syndrome (DS) has markedly increased over the past decades, older adults with DS may be experiencing a higher incidence of aging conditions. In addition to longevity, the amyloid precursor protein gene located on chromosome 21 places individuals with DS at a high risk for developing Alzheimer disease. Yet, few studies have determined prevalence of dementia and comorbidities among older people with DS.ObjectiveTo determine the prevalence of dementia and aging-related comorbidities in older adult individuals with DS.Design, Setting, and ParticipantsCross-sectional analysis of 2015 California Medicare claims data. We examined 1 year of cross-sectional Medicare claims data that included 100% of Californian Medicare beneficiaries enrolled in both Medicare Part A and B in 2015. Of these 3 001 977 Californian Medicare beneficiaries 45 years or older, 878 individuals were identified as having a diagnosis of DS. Data were analyzed between April 2017 and February 2018.Main Outcomes and MeasuresThe frequency of DS dementia was assessed across different age categories. The number and frequency of 27 comorbidities were compared among individuals with DS with and without dementia and by age and sex groups.ResultsA total of 353 DS individuals (40%) were identified as having dementia diagnoses (mean, 58.7 years; 173 women [49%]) and 525 without dementia diagnoses (mean, 55.9 years; 250 women [48%]). The frequency of DS dementia among those 65 years or older rose to 49%. The mean number of comorbidities per individual increased with age in general. Comorbid conditions were more numerous among those with dementia compared with those with DS without dementia (mean, 3.4 vs 2.5, respectively), especially among those younger than 65 years. In particular, 4 treatable conditions, hypothyroidism, epilepsy, anemia, and weight loss, were much more frequent in DS dementia.Conclusions and RelevanceOlder Medicare beneficiaries in California with DS, especially those with dementia, have a high level of multimorbidity including several treatable conditions. While DS follow-up has long been confined to the pediatric sphere, we found that longevity in individuals with DS will necessitate complex adult and geriatric care. More evidenced-based and standardized follow-up could support better long-term comorbidity management and dementia care among aging adults with DS.