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IntroductionPeople with Down syndrome (DS) have a 75% to 90% lifetime risk of Alzheimer's disease (AD). AD pathology begins a decade or more prior to onset of clinical AD dementia in people with DS. It is not clear if plasma biomarkers of AD pathology are correlated with early cognitive and functional impairments in DS, and if these biomarkers could be used to track the early stages of AD in DS or to inform inclusion criteria for clinical AD treatment trials.MethodsThis large cross-sectional cohort study investigated the associations between plasma biomarkers of amyloid beta (Aβ)42/40, total tau, and neurofilament light chain (NfL) and cognitive (episodic memory, visual-motor integration, and visuospatial abilities) and functional (adaptive behavior) impairments in 260 adults with DS without dementia (aged 25-81 years).ResultsIn general linear models lower plasma Aβ42/40 was related to lower visuospatial ability, higher total tau was related to lower episodic memory, and higher NfL was related to lower visuospatial ability and lower episodic memory.DiscussionPlasma biomarkers may have utility in tracking AD pathology associated with early stages of cognitive decline in adults with DS, although associations were modest.HighlightsPlasma Alzheimer's disease (AD) biomarkers correlate with cognition prior to dementia in Down syndrome.Lower plasma amyloid beta 42/40 was related to lower visuospatial abilities.Higher plasma total tau and neurofilament light chain were associated with lower cognitive performance.Plasma biomarkers show potential for tracking early stages of AD symptomology.

Parents of autistic children experience more parenting stress and are at increased risk for poor mental and physical health compared with parents of neurotypical children; however, not all parents are distressed. The present study used a person-centered analytic approach to identify profiles of the parenting experience in a sample of 183 mothers and fathers of an autistic child (5-12 years old) and to examine associations between profile membership and child outcomes. Results indicated three profiles for mothers: "Adaptive" (41.1%; high authoritative parenting, lowest stress, and highest competence), "Average" (42.1%; sample average of all parenting indicators), and "Distressed" (16.8%; high stress, low competence, maladaptive parenting strategies). Fathers were classified into four profiles: "Adaptive" (33.3%), "Average" (37.7%), "Distressed"--"Permissive" (15.3%; high stress, low competence, permissive parenting strategies), and "Distressed"--"Authoritarian" (13.6%; some stress, lowest competence, authoritarian parenting strategies). The profiles differed on child internalizing and externalizing symptoms and autism symptom severity. Comparative analysis also revealed that children did better when at least one parent was included in the "Adaptive" group. Implications of these findings are discussed and include fostering empowering messages to parents as well as providing useful new insight in the context of family-focused interventions.

BackgroundImportant insights into the early pathogenesis of Alzheimer's disease can be provided by studies of autosomal dominant Alzheimer's disease and Down syndrome. However, it is unclear whether the timing and spatial distribution of amyloid accumulation differs between people with autosomal dominant Alzheimer's disease and those with Down syndrome. We aimed to directly compare amyloid changes between these two groups of people.MethodsIn this cross-sectional study, we included participants (aged ≥25 years) with Down syndrome and sibling controls who had MRI and amyloid PET scans in the first data release (January, 2020) of the Alzheimer's Biomarker Consortium-Down Syndrome (ABC-DS) study. We also included carriers of autosomal dominant Alzheimer's disease genetic mutations and non-carrier familial controls who were within a similar age range to ABC-DS participants (25-73 years) and had MRI and amyloid PET scans at the time of a data freeze (December, 2020) of the Dominantly Inherited Alzheimer Network (DIAN) study. Controls from the two studies were combined into a single group. All DIAN study participants had genetic testing to determine PSEN1, PSEN2, or APP mutation status. APOE genotype was determined from blood samples. CSF samples were collected in a subset of ABC-DS and DIAN participants and the ratio of amyloid β42 (Aβ42) to Aβ40 (Aβ42/40) was measured to evaluate its Spearman's correlation with amyloid PET. Global PET amyloid burden was compared with regards to cognitive status, APOE ɛ4 status, sex, age, and estimated years to symptom onset. We further analysed amyloid PET deposition by autosomal dominant mutation type. We also assessed regional patterns of amyloid accumulation by estimated number of years to symptom onset. Within a subset of participants the relationship between amyloid PET and CSF Aβ42/40 was evaluated.Findings192 individuals with Down syndrome and 33 sibling controls from the ABC-DS study and 265 carriers of autosomal dominant Alzheimer's disease mutations and 169 non-carrier familial controls from the DIAN study were included in our analyses. PET amyloid centiloid and CSF Aβ42/40 were negatively correlated in carriers of autosomal dominant Alzheimer's disease mutations (n=216; r=-0·565; p

BackgroundThe Down syndrome population has been disproportionately affected by Coronavirus 2019 (COVID-19) in terms of experiencing severe illness and death. Societal efforts to curb the spread of COVID-19 may also have taken a heavy toll on the daily lives of individuals with Down syndrome.Objective/hypothesisThe goal of the study was to understand how the COVID-19 pandemic has altered daily life (including residence, employment, and participation in adult disability day programs) and influenced the mood and behavior of adults with Down syndrome.MethodsBetween September 2020 and February 2021, caregivers of 171 adults with Down syndrome (aged 22-66 years) located across the United States and in the United Kingdom enrolled in the Alzheimer's Biomarker Research Consortium on Down Syndrome (ABC-DS) completed a survey.ResultsThe residence of 17% of individuals was altered, and 89% of those who had been employed stopped working during the pandemic. One-third (33%) of individuals were reported to be more irritable or easily angered, 52% were reported to be more anxious, and 41% were reported to be more sad/depressed/unhappy relative to prepandemic. The majority of changes in mood and behavior were of modest severity.ConclusionsThe COVID-19 pandemic has had widespread effects on the daily life and mood and behavior of adults with Down syndrome. In the short term, caregivers and providers should be prepared to help adults with Down syndrome with changes in daily routines, residence, employment, or adult disability day programs as society shifts away from COVID-19 safety protocols.

Autistic youth are at risk for internalizing mental health problems such as depression and anxiety. Similarly, parents of autistic youth report higher levels of depression than parents of typically developing children. The goal of this study was to examine bidirectional associations between parent depression symptoms and the internalizing problems of autistic youth in 188 families across four time points (T1-T4; spaced 12 months apart). A cross-lagged panel model revealed that mother (T1 and T2) and father (T1) depression symptoms positively predicted the youth's internalizing problems 12 months later. The youth's internalizing problems at T3 positively predicted maternal depression symptoms at T4. Future research should explore genetic and environmental pathways that link parent depression and internalizing problems in autistic youth., Author(s): Brianna Piro-Gambetti [sup.1] [sup.2] [sup.4] , Jessica Greenlee [sup.1] [sup.3] , Emily J. Hickey [sup.1] , Jennifer M. Putney [sup.1] [sup.2] , Emily Lorang [sup.1] , Sigan L. Hartley [...]

We determined the extent to which obstructive sleep apnea (OSA) is associated with increased cerebrovascular disease and amyloid burden, and the relation of the two processes across clinical Alzheimer's disease (AD) diagnostic groups in adults with Down syndrome (DS). Adults with DS from the Biomarkers of Alzheimer's Disease in Down Syndrome (ADDS) study were included given available research MRI (n = 116; 50 ± 8 years; 42% women) and amyloid PET scans (n = 71; 50 ± 7 years; 39% women) at the time of analysis. Participants were characterized as cognitively stable (CS; 64%), with mild cognitive impairment-DS (MCI-DS; 23%), with possible AD dementia (5%), or with definite AD dementia (8%). OSA was determined via medical records and interviews. Models tested the effect of OSA on MRI-derived cerebrovascular biomarkers and PET-derived amyloid burden, and the moderating effect of OSA and AD diagnosis on biomarkers. OSA was reported in 39% of participants, which did not differ by clinical AD diagnostic group. OSA was not associated with cerebrovascular biomarkers but was associated with greater cortical amyloid burden. White matter hyperintensity (WMH) volume (primarily in the parietal lobe), enlarged perivascular spaces, and cortical and striatal amyloid burden were greater across clinical AD diagnostic groups (CS

Research suggests a link between Alzheimer's Disease in Down Syndrome (DS) and the overproduction of amyloid plaques. Using Positron Emission Tomography (PET) we can assess the in-vivo regional amyloid load using several available ligands. To measure amyloid distributions in specific brain regions, a brain atlas is used. A popular method of creating a brain atlas is to segment a participant's structural Magnetic Resonance Imaging (MRI) scan. Acquiring an MRI is often challenging in intellectually-imparied populations because of contraindications or data exclusion due to significant motion artifacts or incomplete sequences related to general discomfort. When an MRI cannot be acquired, it is typically replaced with a standardized brain atlas derived from neurotypical populations (i.e. healthy individuals without DS) which may be inappropriate for use in DS. In this project, we create a series of disease and diagnosis-specific (cognitively stable (CS-DS), mild cognitive impairment (MCI-DS), and dementia (DEM-DS)) probabilistic group atlases of participants with DS and evaluate their accuracy of quantifying regional amyloid load compared to the individually-based MRI segmentations. Further, we compare the diagnostic-specific atlases with a probabilistic atlas constructed from similar-aged cognitively-stable neurotypical participants. We hypothesized that regional PET signals will best match the individually-based MRI segmentations by using DS group atlases that aligns with a participant's disorder and disease status (e.g. DS and MCI-DS). Our results vary by brain region but generally show that using a disorder-specific atlas in DS better matches the individually-based MRI segmentations than using an atlas constructed from cognitively-stable neurotypical participants. We found no additional benefit of using diagnose-specific atlases matching disease status. All atlases are made publicly available for the research community.HighlightDown syndrome (DS) joint-label-fusion atlases provide accurate positron emission tomography (PET) amyloid measurements.A disorder-specific DS atlas is better than a neurotypical atlas for PET quantification.It is not necessary to use a disease-state-specific atlas for quantification in aged DS.Dorsal striatum results vary, possibly due to this region and dementia progression.

Improved medical care of individuals with Down syndrome (DS) has led to an increase in life expectancy to over the age of 60 years. In conjunction, there has been an increase in age-related co-occurring conditions including Alzheimer's disease (AD). Understanding the factors that underlie symptom and age of clinical presentation of dementia in people with DS may provide insights into the mechanisms of sporadic and DS-associated AD (DS-AD). In March 2019, the Alzheimer's Association, Global Down Syndrome Foundation and the LuMind IDSC Foundation partnered to convene a workshop to explore the state of the research on the intersection of AD and DS research; to identify research gaps and unmet needs; and to consider how best to advance the field. This article provides a summary of discussions, including noting areas of emerging science and discovery, considerations for future studies, and identifying open gaps in our understanding for future focus.

Youth with autism spectrum conditions have been shown to be at an increased risk for bullying victimization. The overall aim of this study was to identify factors associated with increased risk for bullying victimization in youth with autism during middle childhood to early adolescence (aged 5-12 years) and to explore the potential time-ordered associations between bullying victimization and mental health problems 12 months later. The average age of the youth with autism was 7.90 years (SD = 2.33), 86% were male, 34.6% had an intellectual disability, and 84% were White, non-Hispanic. Youth with autism who experienced bullying victimization (vs no victimization) were older in age, had more severe autism symptoms, and higher levels of internalizing and externalizing mental health problems at study onset. Using two cross-lagged structural equation models, the associations between maternal report of youth bullying victimization and teacher report of youth mental health problems using two waves of data were tested. Internalizing and externalizing mental health problems at Time 1 did not relate to change in likelihood of being bullied 1 year later. In contrast, bullying victimization at Time 1 was associated with an increase in internalizing mental health problems (Beta = 0.24, p < 0.05).

Background: Leisure activity has been linked to optimal ageing outcomes, yet little is known about the type and level of leisure activity adults with Down syndrome currently engage in, and the factors that promote and hinder their leisure activities. Materials and Methods: A daily diary was utilized to provide an in-depth description of the average daily leisure activity of 44 adults with Down syndrome (aged 25-56 years) across a typical 7-day period. Factors related to participation, including initiators, social partners, settings and barriers, were examined. Results: Findings indicated that the majority of adults with Down syndrome did not meet established physical leisure activity intensity recommendations (i.e., 150 min/week moderately active activity) and did not exceed levels of passive leisure (e.g., watching television) found in the general population (i.e., 2-3 hr/day). Adults with Down syndrome self-initiated and self-engaged in the majority of their leisure activity. Family members and paid staff allocated resources towards initiating and engaging as social partners in social and physical leisure, respectively. Conclusions: Interventions and support services should partner with family members and paid staff to foster participation in adaptive leisure activity, perhaps through the establishment of leisure activity as part of daily routines.

Increasingly individuals with intellectual and developmental disabilities, including Down syndrome, are being targeted for clinical trials. However, a challenge exists in effectively evaluating the outcomes of these new pharmacological interventions. Few empirically evaluated, psychometrically sound outcome measures appropriate for use in clinical trials with individuals with Down syndrome have been identified. To address this challenge, the National Institutes of Health (NIH) assembled leading clinicians and scientists to review existing measures and identify those that currently are appropriate for trials; those that may be appropriate after expansion of age range addition of easier items, and/or downward extension of psychometric norms; and areas where new measures need to be developed. This article focuses on measures in the areas of cognition and behavior.

The broader autism phenotype refers to sub-clinical autism spectrum disorder characteristics involving socially and emotionally aloof and rigid personality traits and social communication difficulties. Relatives of individuals with autism spectrum disorder, including parents, evidence an increased rate of broader autism phenotype. The goal of this study was to evaluate the association between actor (one's own) and partner (their partner's) broader autism phenotype and the self-reported, observed, and physiological (i.e. electrodermal reactivity) markers of the quality of videotaped couple problem-solving interactions in 158 couples, who had a child with autism spectrum disorder (aged 5-12 years). The mean age of mothers was 39.79 (standard deviation = 5.06) years and the mean age of fathers was 41.77 (standard deviation = 6.02) years for fathers, and 36.6% of parents did not have a college degree. Actor-partner interdependence models, using structural equation modeling in analysis of moment structures, were conducted. Results indicated that parent broader autism phenotype was positively related to adverse couple problem-solving interactions across all measurement methods (observed codes, self-reported affect, and electrodermal reactivity). These effects were independent of child-related challenges. The effect of parent broader autism phenotype occurred through both actor and partner pathways and was strongest for father broader autism phenotype.

Little research has examined family emotional climate in the context of having a child with autism spectrum disorder (ASD). The goal of the current study was to determine how the emotional quality of family subsystems (parent--child and parent couple relationships, for both mothers and fathers) combine to create various classes of family emotional climate and to identify predictors of class membership in 148 families of children with ASD. The emotional quality of family subsystems was assessed using Five Minute Speech Samples from mothers and fathers. In total, 148 families of children with ASD (86% male) aged 6-13 years were included in analyses. About one-third of parents did not have a college degree and more than two-thirds were of non-Hispanic White origin. Latent class analysis revealed that 43% of the sample was characterized by high levels of warmth and low levels of criticism in both the parent-child and parent couple relationships; 12% of the sample was characterized by low warmth and high criticism in both sets of relationships; and the rest of the sample was divided among three additional classes of emotional climate characterized by different configurations of warmth and criticism across both sets of relationships. Parent level of broader autism phenotype and child emotional and behavioral problems were associated with emotional climate class membership. Implications for interventions are discussed.

Parents of children with autism spectrum disorder report elevated parenting stress. The current study examined bidirectional effects between parenting stress and three domains of child functioning (ASD symptoms, internalizing behavior problems, and externalizing behavior problems) across four time points in 188 families of children with ASD (ages 5-12 years). Mother and father reports of parenting stress and child functioning were used in cross-lag models to examine bidirectional associations between parenting stress and child functioning. Results indicated parent-driven effects for child internalizing behavior problems, while child externalizing behavior problems and ASD symptoms evidenced both parent-driven and child-driven effects, in different ways for mothers versus fathers. Overall, findings have important implications for interventions for families of children with ASD.

Parents of 5- to 12-year-old children (half had been diagnosed with autism spectrum disorder [ASD] and half were typically developing) provided reports of the most significant marital conflict of the day and ratings of child behaviors problems on a daily basis for 14 days. Mothers and fathers in the ASD group reported having more conflicts in daily life with any children present and more conflicts with the target child present than their counterparts with typically developing children did. Fathers (but not mothers) in the ASD group reported more conflicts as including child-related themes, although parents across the groups did not differ in their reporting marital conflict that specifically discussed the study's target child. Results from multilevel modeling revealed within-person associations between child presence during marital conflict and parents' emotions; specifically, child presence was related to lower dyadic positivity and higher dyadic anger, according to both mothers and fathers. In addition, results identified significant, positive within-person associations between child presence during marital conflict and discussing certain conflict topics (increased likelihoods of discussing any children and the study's target children). These direct associations were found consistently across mothers' and fathers' reports, and did not vary across ASD and comparison families. Multilevel models focused on implications of the marital conflict for the study's target children generally found child presence during conflict and discussion of child-themed conflict topics to predict higher levels of behavior problems in daily life. One moderating effect was identified, with child presence during conflict related to higher behavior problems according to mothers in the ASD group but not those in the comparison group.

INTRODUCTION: Trisomy 21, or Down syndrome (DS), predisposes individuals to early‐onset Alzheimer's disease (AD). While monoclonal antibodies (mAbs) targeting amyloid are approved for older AD patients, their efficacy in DS remains unexplored. This study examines amyloid positron emission tomography (PET) positivity (A+), memory function, and clinical status across ages in DS to guide mAb trial designs. METHODS: Cross‐sectional data from the Alzheimer Biomarker Consortium–Down Syndrome (ABC‐DS) was analyzed. PET amyloid beta in Centiloids classified amyloid status using various cutoffs. Episodic memory was assessed using the modified Cued Recall Test, and clinical status was determined through consensus processes. RESULTS: Four hundred nine DS adults (mean age = 44.83 years) were evaluated. A+ rates increased with age, with mean amyloid load rising significantly. Memory decline and cognitive impairment are also correlated with age. DISCUSSION: These findings emphasize the necessity of tailoring mAb trials for DS, considering age‐related AD characteristics. Highlights: There is rapid increase in prevalence of amyloid beta (Aβ) positron emission tomography (PET) positivity in Down syndrome (DS) after the age of 40 years.Aβ PET positivity thresholds have significant impact on prevalence rates in DS.There is a significant lag between Aβ PET positivity and clinical symptom onset in DS. [ABSTRACT FROM AUTHOR]

Adults with Down syndrome (DS) experience high risk for Alzheimer's disease (AD), but there is variability in the timing of transition from a cognitively stable state to prodromal AD and dementia. The present study examined the association between a modifiable lifestyle factor, employment complexity, and cognitive decline across two time points in adults with DS. Employment complexity, defined as the degree of problem-solving or critical thinking required for employment activities, was operationalized using the Dictionary of Occupational Titles, a system which classifies occupations based on three categories: Data, People, and Things. Eighty-seven adults with DS (M = 36.28 years, SD = 6.90 years) were included in analyses. Partial correlations revealed that lower employment complexity involving People and Things were associated with increased dementia symptoms. Lower employment complexity involving Things was also associated with memory decline. These findings have implications for vocational programs focused on job training and placement for adults with DS. [ABSTRACT FROM AUTHOR]

Introduction: Despite robust evidence in the broader family process literature for within-couple associations between romantic partners' physiological responding, this linkage has not been tested directly among parents raising a child with autism spectrum disorder (ASD). Explicit attention to these parents is warranted on the basis of the established family-wide challenges associated with the persistent emotional, functional, and behavior impairments typically observed in children with ASD (see Karst & Van Hecke, 2012). The first purpose of this study is to extend examination of within-couple associations between electrodermal activity (EDA) to mothers and fathers of children with ASD. The second purpose is to test 2 potential moderators of EDA synchrony reflecting heightened challenges among parents of children with ASD, namely parenting as an observed conflict topic and global parenting stress. Method: Both parents wore wrist sensors that captured continuous EDA during a recorded marital conflict interaction. Trained coders provided ratings of emotional intensity and conflict topics, including whether the topic of parenting was discussed. Parents reported their global level of parenting stress. Dyadic multilevel modeling was used to test our hypotheses and accounted for interaction factors (e.g., movement data, emotional intensity). Results: Findings identified significant positive associations between parents' EDA. One moderator result emerged; specifically, father EDA was a stronger predictor of mother EDA when parenting was discussed as a conflict topic. Conclusion: This study extends evidence of within-couple physiological linkage to parents raising a child with ASD and provides a foundation for future research examining the family-wide implications of this linkage. Public Significance Statement This study extended investigation of romantic partners' physiological connections to parents raising a child with autism spectrum disorder. The findings of this study suggest that an indicator of parents' physiological arousal (specifically, their electrodermal activity levels) was positively associated with their partner's, and that the connection within couples may be stronger during conflict discussions related to parenting. Keywords: autism spectrum disorders, dyadic interactions, families, parenting, physiological synchrony Supplemental materials: http://dx.doi.org/10.1037/fsh0000525.supp, Studies that have integrated biological, psychosocial, and behavioral underpinnings to understand autism spectrum disorder (ASD) and family health implicate electrodermal activity (EDA) as a compelling area of investigation. EDA is [...]

When faced with child-related challenges associated with autism spectrum disorder, positive and negative social exchanges may be critical to parents' psychological well-being. This study examined the types and sources of positive and negative social exchanges reported by mothers and fathers of children with autism spectrum disorder and their association with parental depressive symptoms in 176 families of children (5-12 years; 85% male) with autism spectrum disorder. One-way repeated measure multivariate analyses of variance and multilevel modeling were used. Results indicated that informational was the most frequent type, and one's spouse was the primary source, of both positive and negative social exchanges. Fathers reported fewer positive, and also fewer negative, social exchanges with family, friends, and health professionals than mothers. Positive and negative social exchanges with one's spouse were most strongly associated with depressive symptoms. Findings have implications for interventions designed to foster optimal outcomes in families of children with autism spectrum disorder.

This study explored the impact of parental sleep quality on the experience of behavior problems by children with autism spectrum disorder. A 14-day daily diary was used in a sample of 176 mother-father couples. Dyadic multilevel models were conducted to examine the between-person and within-person effects of previous-night sleep quality on parents' rating of level of behavior problems by the child with autism spectrum disorder and level of positive and negative affect. Results indicated that persistently poor sleep quality was associated with between-person differences in initial rating of level of behavior problems by the child with autism spectrum disorder for mothers. At a within-person level, previous-night sleep quality moderated the association between rating of level of behavior problems by the child with autism spectrum disorder and level of positive and negative affect in fathers. Child-related stressors exerted less influence on fathers' affect following a day with poor sleep quality. Interventions aimed at enhancing sleep quality in parents of children with autism spectrum disorder may have important effects on parental psychological well-being.

We examined daily couple experiences in 174 couples who had a child with autism spectrum disorder (ASD) relative to 179 couples who had a child without disabilities and their same-day association with parent affect. Parents completed a 14-day daily diary in which they reported time with partner, partner support, partner closeness, and positive and negative couple interactions and level of positive and negative affect. One-way multivariate analyses of covariance and dyadic multilevel models were conducted. Parents of children with ASD reported less time with partner, lower partner closeness, and fewer positive couple interactions than the comparison group. Daily couple experiences were more strongly associated with parent affect in the ASD than comparison group. Findings have implications for programs and supports.

The present study examined leisure activity and its association with caregiver involvement (i.e., residence and time spent with primary caregiver) in 62 middle-aged and older adults with Down syndrome (aged 30-53 years). Findings indicated that middle-aged and older adults with Down syndrome frequently participated in social and passive leisure activities, with low participation in physical and mentally stimulating leisure activities. Residence and time spent with primary caregiver were associated with participation in physical leisure activity. The findings suggest a need for support services aimed at increasing opportunities for participating in physical and mentally stimulating leisure activity by middle-aged and older adults with Down syndrome. These support services should partner with primary caregivers in order to best foster participation in physical leisure activity.

INTRODUCTION: This study aimed to investigate the influence of the overall Alzheimer's disease (AD) genetic architecture on Down syndrome (DS) status, cognitive measures, and cerebrospinal fluid (CSF) biomarkers. METHODS: AD polygenic risk scores (PRS) were tested for association with DS‐related traits. RESULTS: The AD risk PRS was associated with disease status in several cohorts of sporadic late‐ and early‐onset and familial late‐onset AD, but not in familial early‐onset AD or DS. On the other hand, lower DS Mental Status Examination memory scores were associated with higher PRS, independent of intellectual disability and APOE (PRS including APOE, PRSAPOE, p = 2.84 × 10−4; PRS excluding APOE, PRSnonAPOE, p = 1.60 × 10−2). PRSAPOE exhibited significant associations with Aβ42, tTau, pTau, and Aβ42/40 ratio in DS. DISCUSSION: These data indicate that the AD genetic architecture influences cognitive and CSF phenotypes in DS adults, supporting common pathways that influence memory decline in both traits. Highlights: Examination of the polygenic risk of AD in DS presented here is the first of its kind.AD PRS influences memory aspects in DS individuals, independently of APOE genotype.These results point to an overlap between the genes and pathways that leads to AD and those that influence dementia and memory decline in the DS population.APOE ε4 is linked to DS cognitive decline, expanding cognitive insights in adults. [ABSTRACT FROM AUTHOR]

Introduction: Within two-parent households, the parent-couple subsystem (marital or romantic partner relationship) is posited to shape the mental health of both parents and children. Autistic children and their parents have an elevated-risk for mental health problems. The present study longitudinally examined the mediating role of the quality of the parent-couple relationship in time-ordered pathways between changes in the mental health problems of autistic children and in parent depression symptoms at a within-family level. Methodology: Using four time points of data collected on 188 families of autistic children (aged 5-12 years) across 3 years, the bidirectional associations between parent-couple relationship satisfaction, parent depressive symptoms, and child internalizing and externalizing mental health problems were investigated. Two multi-group (grouped by parent gender) complete longitudinal mediation models in structural equation modeling using Mplus software were conducted. Results: Parent-couple relationship satisfaction mediated: (1) the association between higher parent depressive symptoms and higher child internalizing mental health problems 12 months later for both mothers and fathers, and (2) the association between higher child externalizing mental health problems and higher father depression symptoms 12 months later. Father depression symptoms mediated a pathway from lower parent-couple satisfaction to higher child internalizing mental health problems 12 months later, and mother depression symptoms mediated the pathway from higher child externalizing mental health problems to lower parent-couple satisfaction 12 months later. Conclusion: Findings highlight the bidirectional and complex ways that parent and child mental health and the quality of the parent-couple relationship are entwined across time in families of autistic children. Family-wide interventions that address the needs of multiple family members and family systems are best suited to improve the mental health of parents and autistic children. [ABSTRACT FROM AUTHOR]

INTRODUCTION: Down syndrome (DS) is a genetic cause of early‐onset Alzheimer's disease (AD). The National Institute on Aging–Alzheimer's Association AT(N) Research Framework is a staging model for AD biomarkers but has not been assessed in DS. METHOD: Data are from the Alzheimer's Biomarker Consortium–Down Syndrome. Positron emission tomography (PET) amyloid beta (Aβ; 15 mCi of [11C]Pittsburgh compound B) and tau (10 mCi of [18F]AV‐1451) were used to classify amyloid (A) –/+ and tau (T) +/–. Hippocampal volume classified neurodegeneration (N) –/+. The modified Cued Recall Test assessed episodic memory. RESULTS: Analyses included 162 adults with DS (aged M = 38.84 years, standard deviation = 8.41). Overall, 69.8% of participants were classified as A–/T–/(N)–, 11.1% were A+/T–/(N)–, 5.6% were A+/T+/(N)–, and 9.3% were A+/T+/(N)+. Participants deemed cognitively stable were most likely to be A–T–(N)– and A+T–(N)–. Tau PET (T+) most closely aligning with memory impairment and AD clinical status. DISCUSSION: Findings add to understanding of AT(N) biomarker profiles in DS. Highlights: Overall, 69.8% of adults with Down syndrome (DS) aged 25 to 61 years were classified as amyloid (A)–/tau (T)–/neurodegeneration (N)–, 11.1% were A+/T–/(N)–, 5.6% were A+/T+/(N)–, and 9.3% were A+/T+/(N)+.The AT(N) profiles were associated with clinical Alzheimer's disease (AD) status and with memory performance, with the presence of T+ aligned with AD clinical symptomology.Findings inform models for predicting the transition to the prodromal stage of AD in DS. [ABSTRACT FROM AUTHOR]

INTRODUCTION: Almost all individuals with Down syndrome (DS) will develop neuropathological features of Alzheimer's disease (AD). Understanding AD biomarker trajectories is necessary for DS‐specific clinical interventions and interpretation of drug‐related changes in the disease trajectory. METHODS: A total of 177 adults with DS from the Alzheimer's Biomarker Consortium‐Down Syndrome (ABC‐DS) underwent positron emission tomography (PET) and MR imaging. Amyloid‐beta (Aβ) trajectories were modeled to provide individual‐level estimates of Aβ‐positive (A+) chronicity, which were compared against longitudinal tau change. RESULTS: Elevated tau was observed in all NFT regions following A+ and longitudinal tau increased with respect to A+ chronicity. Tau increases in NFT regions I‐III was observed 0–2.5 years following A+. Nearly all A+ individuals had tau increases in the medial temporal lobe. DISCUSSION: These findings highlight the rapid accumulation of amyloid and early onset of tau relative to amyloid in DS and provide a strategy for temporally characterizing AD neuropathology progression that is specific to the DS population and independent of chronological age. Highlights: Longitudinal amyloid trajectories reveal rapid Aβ accumulation in Down syndromeNFT stage tau was strongly associated with A+ chronicityEarly longitudinal tau increases were observed 2.5–5 years after reaching A+ [ABSTRACT FROM AUTHOR]

A cross-sectional analysis was used to examine age-related differences in ASD symptoms and corresponding differences in disruptive behavior and social skills in 281 adult men with fragile X syndrome. Four age groups were created: 18-21, 22-29, 30-39, and 40-49 years. The 18-21 year-old group was reported to have more impairments in verbal communication than the 22-29 year-old group and more restricted and repetitive behaviors than the 40-49 year-old group. There was not an age-group difference in the percentage of men who met criteria for an ASD diagnosis based on respondent-reported, current symptoms. There was a trend for an age-related difference in disruptive behavior. Findings add to understanding of the developmental trajectory of ASD symptoms in adulthood.

Little research has examined the support needs of mothers versus fathers of children and adolescents with autism spectrum disorder (ASD). We identified and compared the important and unmet support needs of mothers and fathers, and evaluated their association with family and child factors, within 73 married couples who had a child or adolescent with ASD. Mothers had a higher "number of important support needs" and "higher proportion of important support needs that are unmet" than fathers. Multilevel modeling indicated that child age, co-occurring behavior problems, presence of intellectual disability, parent education, and household income were related to support needs. Findings offer insight into the overlapping and unique support needs of mothers and fathers of children and adolescents with ASD.

There is a paucity of research on psychosocial treatments for depression in adults with intellectual disability (ID). In this pilot study, we explored the efficacy of a group CBT treatment that involved a caregiver component in adults with mild ID with a depressive disorder. Sixteen adults with mild ID and a depressive disorder participated in a 10-week group CBT treatment and eight adults with mild ID with a depressive disorder served as a treatment as usual (TAU) control group. Adults with mild ID and caregivers completed measures of depressive symptoms, behavior problems, and social skills at pretreatment, posttreatment, and a 3-month follow-up. Adults with mild ID also completed a series of tasks to measure their understanding of the principles of cognitive therapy pre- and posttreatment. The CBT group demonstrated significant decreases in depressive symptoms and behavior problems from pretreatment to posttreatment and these effects were maintained at a 3-month follow-up. The CBT group demonstrated significant improvements in their ability to infer emotions and thoughts based on various situation-thought-emotion pairings from pretreatment to posttreatment. Findings indicate that adults with mild ID with a depressive disorder benefitted from a group CBT treatment with a caregiver component. Moreover, adults with mild ID appeared to benefit, at least in part, from the cognitive therapy components of the treatment, in addition to the behavior therapy components.

Background: Trisomy 21 causes Down syndrome (DS) and is a recognized cause of early-onset Alzheimer's disease (AD). Objective: The current study sought to determine if premorbid intellectual disability level (ID) was associated with variability in age-trajectories of AD biomarkers and cognitive impairments. General linear mixed models compared the age-trajectory of the AD biomarkers PET Aβ and tau and cognitive decline across premorbid ID levels (mild, moderate, and severe/profound), in models controlling trisomy type, APOE status, biological sex, and site. Methods: Analyses involved adults with DS from the Alzheimer's Biomarkers Consortium-Down Syndrome. Participants completed measures of memory, mental status, and visuospatial ability. Premorbid ID level was based on IQ or mental age scores prior to dementia concerns. PET was acquired using [11C] PiB for Aβ, and [18F] AV-1451 for tau. Results: Cognitive data was available for 361 participants with a mean age of 45.22 (SD = 9.92) and PET biomarker data was available for 154 participants. There was not a significant effect of premorbid ID level by age on cognitive outcomes. There was not a significant effect of premorbid ID by age on PET Aβ or on tau PET. There was not a significant difference in age at time of study visit of those with mild cognitive impairment-DS or dementia by premorbid ID level. Conclusion: Findings provide robust evidence of a similar time course in AD trajectory across premorbid ID levels, laying the groundwork for the inclusion of individuals with DS with a variety of IQ levels in clinical AD trials. [ABSTRACT FROM AUTHOR]