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People with intellectual disability (particularly those with Down syndrome) have a higher risk of developing dementia than the general population. The varied presentation, the course, and available treatments are covered.
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.
Down syndrome is the most common genetic cause of intellectual disability and Alzheimer's disease. In the general population, common mental disorders (CMDs), including anxiety, depression and obsessive–compulsive disorder, are linked to cognitive decline and higher risk for dementia. It is not known how CMDs affect longer-term cognitive outcomes in Down syndrome, and there is often diagnostic uncertainty in older people with Down syndrome and psychiatric comorbidity.
Aims
To study the influence of CMDs on cognitive ability and whether they are related longitudinally to development of clinical signs of Alzheimer's disease in Down syndrome.
Method
We followed 115 individuals with Down syndrome, 27 of whom were diagnosed with a CMD, over approximately 3 years. Changes in cognitive and behavioural outcomes between baseline and follow-up assessment were analysed, with comparisons made between those with and without a comorbid CMD. Age, gender, apolipoprotein E status and level of intellectual disability were included as covariates.
Results
No significant association between presence of a CMD and poorer performance on cognitive tasks or informant-rated decline over time was observed (P > 0.05).
Conclusions
Our results suggest that a diagnosis of a CMD does not have a significant negative effect on long-term cognitive or behavioural outcomes in individuals with Down syndrome. In individuals with stable or treated CMD, subsequent cognitive decline is likely indicative of Alzheimer's disease rather than a consequence of mental disorder.
Controversial data exist about the impact of Down syndrome on outcomes after surgical repair of atrioventricular septal defect.
Aims:
(A) assess trends and outcomes of atrioventricular septal defect with and without Down syndrome and (B) determine risk factors associated with adverse outcomes after atrioventricular septal defect repair.
Methods:
We queried The National Inpatient Sample using International Classification of Disease codes for patients with atrioventricular septal defect < 1 year of age from 2000 to 2018. Patients’ characteristics, co-morbidities, mortality, and healthcare utilisation were evaluated by comparing those with versus without Down syndrome.
Results:
In total, 2,318,706 patients with CHD were examined; of them, 61,101 (2.6%) had atrioventricular septal defect. The incidence of hospitalisation in infants with atrioventricular septal defect ranged from 4.5 to 7.5% of all infants hospitalised with CHD per year. A total of 33,453 (54.7%) patients were associated with Down syndrome. Double outlet right ventricle, coarctation of the aorta, and tetralogy of Fallot were the most commonly associated with CHD in 6.9, 5.7, and 4.3% of patients, respectively. Overall atrioventricular septal defect mortality was 6.3%. Multivariate analysis revealed that prematurity, low birth weight, pulmonary hypertension, and heart block were associated with mortality. Down syndrome was associated with a higher incidence of pulmonary hypertension (4.3 versus 2.8%, p < 0.001), less arrhythmia (6.6 versus 11.2%, p < 0.001), shorter duration for mechanical ventilation, shorter hospital stay, and less perioperative mortality (2.4 versus 11.1%, p < 0.001).
Conclusion:
Trends in atrioventricular septal defect hospitalisation had been stable over time. Perioperative mortality in atrioventricular septal defect was associated with prematurity, low birth weight, pulmonary hypertension, heart block, acute kidney injury, and septicaemia. Down syndrome was present in more than half of atrioventricular septal defect patients and was associated with a higher incidence of pulmonary hypertension but less arrhythmia, lower mortality, shorter hospital stay, and less resource utilisation.
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.
This article argues that state laws banning abortions for disability violate reproductive justice for parents with disabilities. These bans deprive people with disabilities of choices that may be important to their possibilities of becoming parents, including possibilities for abortion of pregnancies that have become risky to continue. Far from protecting disability civil rights, these state law bans restrict the abilities of people with disabilities to choose to have children and to parent.
In this chapter, we focus on language development in individuals suffering from language and cognitive disorders. One of the major concerns of families and caregivers of individuals with these disorders is that exposure to more than one language may cause further difficulties, slow down, or hinder linguistic and cognitive development. Scientific research, however, shows that this is an unmotivated prejudice, and that bilingualism does not provide negative effects, but rather, can offer benefits. We explore the interaction between bilingualism and language disorders, discussing in particular developmental language disorders, developmental dyslexia, autism spectrum disorders, hearing loss, Down syndrome, and aphasia.
Distinguishes between neurodevelopmental and neurocognitive disorders. Summarizes the diagnostic criteria, etiology, and treatment of autism spectrum disorder. Summarizes the diagnostic criteria and severity levels of intellectual disability. Describes the models and treatment of intellectual disabilities. Describes the main features and treatment of delirium. Distinguishes between major and mild neurocognitive disorder. Discusses the main causes and treatments of major and mild neurocognitive disorder.
Co-morbid psychiatric disorders are common in Down syndrome (DS). Evidence is limited for pharmacotherapy, specifically antipsychotics, for psychiatric co-morbidity in DS.
Objectives
To describe a case of a patient with DS who developed a first-episode psychosis (FEP) and who responded to lurasidone in monotherapy and to review recent literature on the treatment of psychosis in patients with DS.
Methods
(1) Case report: FEP in DS patient treated with lurasidone 37 mg/day. (2) Narrative review on the treatment of psychosis in DS patients through PubMed database (1990-2020). Key terms: “psychosis”, “Down Syndrome”, “pharmacological treatment”, “antipsychotic drugs”.
Results
A 21-year-old woman with DS, without psychiatric history, presenting with behavioural anomalies, aggressiveness, soliloquies, and unmotivated laughs was referred to our outpatient clinic by her general practitioner. Symptoms began one year prior and progressively worsened, impairing her daily functionality. Previous blood workup was normal. She was diagnosed with FEP and began treatment with lurasidone 37 mg. At 4-week follow-up, she showed total remission of the psychotic symptoms, had no tolerability complaints, and returned to baseline functionality levels. Discussion: No reports of lurasidone use in psychosis in DS have been published. To treat psychotic symptoms in DS, most literature reports describe the use of typical antipsychotics, which are usually effective, but often poorly tolerated; atypical antipsychotics such as risperidone and aripiprazole have also been used.
Conclusions
Lurasidone may be a useful option in patients with FEP in DS. Further research is warranted on treatment of psychosis in this population.
Down syndrome (DS) is a complex condition that causes various health problems and it is accepted that treadmill training is a therapy method for some of them.
Objectives
The objective was to evaluate the effectiveness of various results of treadmill training in children and adults with DS.
Methods
We included studies in which participants with DS from every age group received treadmill training, alone or combined with physiotherapy and could optionally be compared to a control group with patients with DS who did not use treadmill training. The search was conducted in medical databases: PubMed, PEDro, Science Direct, Scopus and Web of Science and involved trials published until July 2021. Following PRISMA criteria, the Risk of Bias assessment was conducted using a tool developed by the Cochrane Collaboration for RCT. The included studies presented multiple outcomes and various methodologies therefore we were not able to conduct any sort of data synthesis, we presented measures of treatment effect as mean differences and corresponding 95% confidence intervals.
Results
5 studies with a total number of 687 participants were included. 10 trials reported on walking onset, 8 on gait parameters or cardiovascular functions, 4 on anti-inflammatory effect and 3 on executive or cognitive functions. We came across 25 different outcomes in different age groups which are presented in a narrative manner. In all outcomes we have observed a positive result favouring the treadmill training.
Conclusions
Introducing treadmill exercise into typical physiotherapy generates improvements of mental and physical health of people with DS of all ages.
The aging experience of individuals with intellectual disability (ID), severe and persistent mental illness (SPMI), and autism spectrum disorder (ASD) is often different from the neurotypical adult. The issue has become more important to address as the number and medical complexity of older adults with ID, SPMI, and ASD continues to increase. In this chapter we review the epidemiology, key medical comorbidities, therapeutic and community resources, and treatment strategies for individuals with ID, autism, and SPMI. The importance of patient-centered care and the interprofessional team will be emphasized.
Young children with Down syndrome (DS) have language delays beginning early in life. Book reading with parents provides a context for capitalizing on language learning opportunities. This study evaluated the quantity and quality of language input among mothers and fathers of young children with DS during book reading interactions and investigated associations with child language. Findings revealed that mothers were more talkative and used more descriptive language, whereas fathers spent more time reading the book text. Moreover, maternal and paternal input were correlated with different measures of child language, suggesting that mothers and fathers may use divergent approaches to support language development.
An atrioventricular septal defect is a defect in the center of the heart consisting of a common atrioventricular valve, a primum atrial septal defect, and an inlet ventricular septal defect. When the common valve is not positioned equally over both ventricles it is called an unbalanced atrioventricular septal defect. This unbalance leads to a decreased inflow of blood to one of the ventricles, and that ventricle and outflow tract are often hypoplastic. The degree of unbalance can vary widely, ranging from mild, which in effect is similar to a large ventricular septal defect, to severe, which can often involve a hypoplastic ventricle and dependence on a patent ductus arteriosus to provide adequate flow to the affected circulation. This chapter discusses the anesthetic management of a 1-day-old patient with trisomy 21 and an unrepaired, unbalanced atrioventricular septal defect undergoing a laparoscopic repair of duodenal atresia. Anesthetic concerns regarding patients with trisomy 21, physiologic changes with laparoscopic surgery and implications of an unbalanced atrioventricular septal defect are all examined in detail.
The risk of perioperative morbidity and mortality is increased in patients with pulmonary hypertension regardless of the procedure. This is particularly true for patients with multifactorial pulmonary hypertension. We present such a patient here with a history of Down syndrome and repaired congenital heart disease who is scheduled to undergo an elective tympanoplasty. Anesthetic issues relevant to the care of a patient with Down syndrome, atrioventricular septal defect, and pulmonary hypertension are discussed, with a focus on assessment and intraoperative planning.
We aimed to characterise the impact of Down syndrome on myocardial performance and loading conditions in infants with Down syndrome and CHD over the peri-operative period by comparing them with infants matched for cardiac lesion with a normal microarray.
Methods:
Left ventricular global longitudinal strain, right ventricular free wall longitudinal strain, left ventricular end-systolic wall stress, and right ventricular systolic pressure were measured in the two groups over the peri-operative period.
Results:
Fifty-five infants had a diagnosis of Down syndrome and these were compared with 29 control infants. Left ventricular global longitudinal strain decreased in both groups post-operatively with the Down syndrome group demonstrating some recovery pre-discharge (18 ± 3 versus 16 ± 3 %, p = 0.01). Right ventricular longitudinal strain significantly decreased in both groups post-operatively with the control group demonstrating better recovery by hospital discharge (14 ± 4 versus 18 ± 6 %, p < 0.01). End-systolic wall stress was lower and right ventricular systolic pressure was higher in the Down syndrome group throughout the study period (all p < 0.05). Down syndrome was an independent predictor of the duration of ventilation, post-operative use of inotropes, and intensive care stay. Right ventricular longitudinal strain was an independent predictor of duration of intensive care stay.
Conclusion:
This study demonstrates the difference between the two groups in relation to left and right ventricular function, particularly prior to discharge, and outlines the additional impact a diagnosis of Down syndrome has on myocardial performance during the peri-operative period.