In the current review, we highlight recent research on marital quality in parents of children with developmental disabilities (DD) and discuss the child and family factors that account for why some marriages fare better than others. We will also discuss the need for the field of DD to broaden its perspective on marital quality and to examine the impact of marriages on child well-being and the well-being of parents. The clinical implications of recent research findings on marital quality for improving supports and interventions for families of children with DD are discussed. A theoretical framework and model of marriage and parent and child psychosocial well-being in the context of child disability is proposed and a roadmap for future research is provided.

Assessing symptoms of autism in persons with known genetic syndromes associated with intellectual and/or developmental disability is a complex clinical endeavor. We suggest that a developmental approach to evaluation is essential to reliably teasing apart global impairments from autism-specific symptomology. In this chapter, we discuss our assumptions about autism spectrum disorders, the process of conducting a family-focused, comprehensive evaluation with behaviorally complex children and some implications for intervention in persons with co-occurring autism and known genetic syndromes.

This review examines what is known about joint attention and early social development in three neurogenetic syndromes: Down syndrome, Williams syndrome, and fragile X syndrome. In addition, the potential cascading effects of joint attention on subsequent social development, especially social interaction and social cognition are proposed. The potential issues and complexities associated with conducting prospective, longitudinal studies of infant social development in neurogenetic disorders are discussed.

Individuals with intellectual and developmental disabilities (IDD) experience sleep problems at higher rates than the general population. Although individuals with IDD are a heterogeneous group, several sleep problems cluster within genetic syndromes or disorders. This review summarizes the prevalence of sleep problems experienced by individuals with Angelman syndrome, Cornelia de Lange syndrome, Cri du Chat syndrome, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, Williams syndrome, autism spectrum disorder, and idiopathic IDD. Factors associated with sleep problems and the evidence for sleep treatments are reviewed for each neurodevelopmental disorder. Sleep research advancements in neurodevelopmental disorders are reviewed, including the need for consistency in defining and measuring sleep problems, considerations for research design and reporting of results, and considerations when evaluating sleep treatments.

Abnormalities in sensory processing are a common feature of many developmental disabilities (DDs). Sensory dysfunction can contribute to deficits in brain maturation, as well as many vital functions. Unfortunately, while some patients with DD benefit from the currently available treatments for sensory dysfunction, many do not. Deficiencies in clinical practice surrounding sensory dysfunction may be related to lack of understanding of the neural mechanisms that underlie sensory abnormalities. Evidence of overlap in sensory symptoms between diagnoses suggests that there may be common neural mechanisms that mediate many aspects of sensory dysfunction. Thus, the current manuscript aims to review the extant literature regarding the neural correlates of sensory dysfunction across DD in order to identify patterns of abnormality that span diagnostic categories. Such anomalies in brain structure, function, and connectivity may eventually serve as targets for treatment.

Williams syndrome (WS) is a genetic neurodevelopmental disorder often accompanied by inhibitory difficulties. Online cognitive training programs show promise for improving cognitive functions. No such interventions have been developed for individuals with WS, but to explore the practicality of large-scale online cognitive training for this population, we must first investigate whether families of those with WS find these programs feasible and acceptable. Twenty individuals aged 10-17 years with WS, along with parents, participated in a pilot online cognitive training program supervised in real time using videoconference software. We evaluated the feasibility and acceptability of this response inhibition training using three parent questionnaires. Descriptive data are reported for the measures of feasibility and acceptability. Overall, the online procedures received a positive reaction from families. Parents were likely to recommend the study to others. They indicated training was ethical and acceptable despite feeling neutral about effectiveness. The frequency and duration of sessions were acceptable to families (two 20-to-30-min sessions per week; 10 sessions total). Families provided feedback and offered suggestions for improvement, such as more flexibility in scheduling and decreasing time spent in review of procedures.

Down syndrome (DS) is now viewed as a genetic type of Alzheimer's disease (AD), given the near-universal presence of AD pathology in middle adulthood and the elevated risk for developing clinical AD in DS. As the field of DS prepares for AD clinical intervention trials, there is a strong need to identify cognitive measures that are specific and sensitive to the transition from being cognitively stable to the prodromal (e.g., Mild Cognitive Impairment-Down syndrome) and clinical AD (e.g., Dementia) stages of the disease in DS. It is also important to determine cognitive measures that map onto biomarkers of early AD pathology during the transition from the preclinical to the prodromal stage of the disease, as this transition period is likely to be targeted and tracked in AD clinical trials. The present chapter discusses the current state of research on cognitive measures that could be used to screen/select study participants and as potential outcome measures in future AD clinical trials with adults with DS. In this chapter, we also identify key challenges that need to be overcome and questions that need to be addressed by the DS field as it prepares for AD clinical trials in the coming years.

Individuals with Down syndrome (DS) are increasingly involved in clinical trials that target developmental outcomes, like cognition and behavior. The increased focus on treatment in DS has led to ongoing discussions regarding the selection of outcome measures using syndrome-informed criteria. This discourse is warranted as clinical trials can fail if the outcome measures selected are inappropriate for individuals with DS or do not take into account the behavioral phenotype commonly associated with DS. This review focuses on the challenges present in the measurement of outcomes in DS, with a specific focus on considerations made in evaluating cognitive, language, and behavioral/psychopathology outcomes. This review also provides a summary of recommendations for assessment of outcomes in these domains as well as recommendations for future research. The impact of physical health and assessment psychometrics on the measurement of outcomes is also reviewed.

The National Institutes of Health formulated the Outreach and Engagement Working Group in Fall of 2019 to support the objectives of the INCLUDE Project (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE). This Working Group consisted of a multi-disciplinary team of stakeholders in research on Down syndrome that met to discuss best practices for outreach and engagement to Down syndrome communities, with an emphasis on representation and diversity. This review and consensus paper describes the importance of increasing representation in DS research for future cohort building and summarizes the priority issues identified by the Working Group members. An overview of Working Group activities is then presented, followed by consensus recommendations and a discussion of future opportunities and challenges.