We report a rare fetal presentation of tetralogy of Fallot and complete atrioventricular block linked to maternal anti-Ro antibodies. However, trisomy 21 was confirmed postnatally. Despite pacemaker implantation, the neonate died on day 55 due to pulmonary complications. This complex case highlights diagnostic and management challenges involving tetralogy of Fallot, Down syndrome, and complete heart block associated with maternal autoantibodies.

An 11-year-old with Down syndrome, autism, prior atrioventricular septal defect repair, and a transvenous pacemaker presented with prolonged fever and raised inflammatory markers. Eight years prior, she had a group A streptococcal sepsis with infection of an epicardial pacemaker. Echocardiography demonstrated a large vegetation on the right atrioventricular valve, with encasement of the pacemaker lead. Following treatment with intravenous antibiotics, she underwent a right atrioventricular valve repair, vegetation excision, and epicardial pacemaker placement. Post-operative recovering was uneventful. This case highlights the complex, multidisciplinary management of device-related endocarditis in Down syndrome and in CHD.

Trisomy 21 is the most common chromosomal anomaly worldwide, and nearly half of the affected individuals are born with CHD, making cardiac complications a leading cause of morbidity and mortality in this population. Over the past century, the management of CHD in patients with Trisomy 21 has evolved dramatically, shaped by shifting societal attitudes, advances in diagnostic and surgical techniques, and landmark legal and ethical milestones. Historically, children with Trisomy 21 faced significant barriers to cardiac care, including delayed referrals and denial of surgical intervention, often rooted in discrimination rather than medical evidence. However, improvements in perioperative management and early surgical repair have led to survival outcomes for many forms of CHD that now approach those of the general population. Despite these advances, challenges persist, particularly in access to heart transplantation, where disparities in referral and eligibility remain. This review provides a historical overview of the evolution of CHD management in individuals with Trisomy 21, highlighting key medical, ethical, and societal developments that have shaped current standards of care.

Dante Cicchetti’s earliest work, his studies of social-emotional development in infants and children with Down syndrome, set the stage for the emergence of the larger field of developmental psychopathology. By applying basic developmental principles, methodologies, and questions to the study of persons with Down syndrome, Dante took on the challenge of searching for patterns in atypical development. In doing so, he extended traditional developmental theory and introduced a more “liberal” approach that both continues to guide developmentally based research with persons with neurodevelopmental conditions (NDCs), including Down syndrome. We highlight five themes from Dante’s work: (1) appreciating the importance of developmental level; (2) prioritizing the organization of development; (3) examining whether developmental factors work similarly in those with known genetic conditions; (4) rethinking narratives about ways of being; and (5) examining the influence of multiple levels of the environment on the individual’s functioning. We highlight ways that these essential lessons anticipated present-day research with persons with a variety of NDCs, including Down syndrome, other genetic syndromes associated with intellectual disability, and autism. We conclude with visions to the future for research with these populations as well as for the field of developmental psychopathology more generally.

Caregiver-child interactions are commonly used to examine children’s language learning environment. However, few studies consider interaction configurations beyond dyadic interactions or explore the conceptual complexity of caregiver talk. Thus, we examined if the complexity of a caregiver’s opportunities to respond (OTR) varied when sampled across three interaction configurations. Our study included twelve preschool-aged children with Down syndrome and both of their biological parents. Our preliminary findings suggest no differences in mothers’ and fathers’ frequency of OTRs across complexity levels during dyadic interactions. However, caregivers produced fewer OTRs across complexity levels during family choice than dyadic interactions.

This editorial discusses a study by Idris and colleagues, where the authors investigated the impact of common mental disorders (CMDs) among patients with Down syndrome, with respect to development of clinical features of Alzheimer's disease.

Despite having the same underlying genetic etiology, individuals with the same syndromic form of intellectual developmental disability (IDD) show a large degree of interindividual differences in cognition and IQ. Research indicates that up to 80% of the variation in IQ scores among individuals with syndromic IDDs is attributable to nongenetic effects, including social-environmental factors. In this narrative review, we summarize evidence of the influence that factors related to economic stability (focused on due to its prevalence in existing literature) have on IQ in individuals with syndromic IDDs. We also highlight the pathways through which economic stability is hypothesized to impact cognitive development and drive individual differences in IQ among individuals with syndromic IDDs. We also identify broader social-environmental factors (e.g., social determinants of health) that warrant consideration in future research, but that have not yet been explored in syndromic IDDs. We conclude by making recommendations to address the urgent need for further research into other salient factors associated with heterogeneity in IQ. These recommendations ultimately may shape individual- and community-level interventions and may inform systems-level public policy efforts to promote the cognitive development of and improve the lived experiences of individuals with syndromic IDDs.

Our main objective was to analyze the role of imageability in relation to the age of acquisition (AoA) of nouns and verbs in Spanish-speaking children with Down syndrome (DS) and their peers with typical development (TD). The AoA of nouns and verbs was determined using the MacArthur-Bates CDIs adapted to the profile of children with DS. The AoA was analyzed using a linear mixed-effect model, including factors of imageability, group, and word class, and controlling for word frequency and word length. This analysis showed that high imaginable and short words were acquired early. Children with DS acquired the words later than TD peers. An interaction between imageability and group indicated that the effect of imageability was greater in the DS group. We discuss this effect considering DS children’s phonological memory difficulties. The overall results confirm the role that imageability and word length play in lexical acquisition, an effect that goes beyond word class.

Harvey and Gurvir’s Law is a bill proposed to the Legislative Assembly of Ontario (Canada) to reduce stigma and bias associated with Down syndrome, by developing and disseminating quality information about Down syndrome in the context of prenatal testing.