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Purpose: The current study addresses a gap in the literature regarding syntactic development of adolescent boys with fragile X syndrome (FXS) and Down syndrome (DS). Specifically, we ask whether syntactic skills plateau or continue to change during adolescence for these groups and whether the profile of syntactic change differs between boys with FXS and those with DS., Method: Participants were 38 boys with FXS (with and without autism) and 20 boys with DS between the ages of 10 and 16 years, as well as 33 boys who were neurotypical between the ages of 3 and 8 years at study entry. Trained examiners evaluated the participants annually for four consecutive years. The evaluation included standardized language assessments and a conversational language sample, which was analyzed using mean length of utterance-morphemes and the Index of Productive Syntax. For each measure, we fit a series of candidate models, including the intercept-only model and models with nonverbal cognition and maternal IQ as moderators. We then used Akaike's information criteria-corrected to determine which model in a candidate set had the most empirical evidence., Results: Our between-groups results indicated that FXS and DS have distinct syntactic profiles. However, our growth analyses and moderator analyses yielded mixed results. For most measures, the most likely models suggest that there is no plateau in the growth of syntactic skills for boys with FXS or DS and that nonverbal cognition is associated with the rate of change., Conclusions: These results suggest that syntactic change continues to occur throughout adolescence for boys with FXS or DS. The results also indicate that the growth profiles are distinct between the two groups. Future research with more participants from more diverse backgrounds would add more clarity to these findings., Supplemental Material: https://doi.org/10.23641/asha.27984548.

Background: Key Word Signing (KWS) is one system that can be used to support the communication needs of children with Down syndrome (DS) who attend mainstream school. The success of KWS in schools is mediated by staff experiences and perceptions of KWS. The current study is one of the first to explore KWS use in mainstream schools., Aims: To explore the perceptions and experiences of teachers and special needs assistants (SNAs) with reported varying levels of experience, using KWS with children with DS and their peers in the first year of mainstream primary school. Secondly, we aimed to explore how those perceptions and experiences evolved throughout the year., Methods & Procedures: Five mainstream schools were recruited where children with DS attended. A speech and language therapy (SLT) researcher taught 25 key word signs to the relevant class in each school at four time points across the year. Five teachers and eight SNAs from participating schools engaged in a series of semi-structured interviews to explore their perceptions/experiences of using KWS (Lámh) over the course of the year. Longitudinal data were analysed using inductive qualitative content analysis., Outcomes & Results: Four categories were generated from the data: Challenges, Facilitators, Benefits, and Incorporation into the whole school environment. Findings suggest that the supported introduction of KWS in school by an SLT researcher can assist inclusive educational practices; facilitate children's comprehension and expression; reduce frustration in children with DS; and facilitate interaction with peers. Results also indicate an increasingly positive attitude among teachers and SNAs towards KWS as the year progressed. Teachers reported the absence of a pedagogical framework as an obstacle to the integration of KWS into the curriculum, while SNAs highlighted inconsistent access to funded entry-level training., Conclusions & Implications: Overall, using KWS was a positive experience that supported communication in children with DS in mainstream school. However, future training should embed knowledge on key facilitators and consider how challenges can be addressed to maximize the potential of all children with communication needs attending mainstream primary school., What This Paper Adds: What is already known on the subject It is well established that the use of KWS is beneficial in supporting the language and communication needs of children with DS. It is also accepted that if KWS is to be effective as a system of communication, the system needs to be understood and used by the communicative partners of those who rely on it. However, many staff in mainstream schools (with children with DS in attendance) have had limited exposure to KWS, little to no experience of using KWS and limited support available to help them create a signing environment. What this paper adds to the existing knowledge This study provides a current account of the perceptions and experiences of teachers and SNAs to the use of KWS in mainstream primary schools in Ireland. Through qualitative approaches it identifies a number of benefits, facilitators and challenges to the use of KWS in schools, as well as the need for KWS to be incorporated into a whole-school approach to communication. Lastly, the study indicates that with ongoing support over the course of the school year, staff attitudes towards KWS changed and became increasingly positive. What are the potential or actual clinical implications of this work? To facilitate the successful implementation of KWS in schools there is a need to develop a whole school-tiered intervention approach to KWS in mainstream schools. This study also highlights the need for ongoing support for school staff to use KWS to ensure successful implementation., (© 2024 The Author(s). International Journal of Language & Communication Disorders published by John Wiley & Sons Ltd on behalf of Royal College of Speech and Language Therapists.)

Background: At least half of children and adults with Down syndrome have a major mental health concern during their life but few studies ask people with Down syndrome directly about their experience. We used a co-research model to explore anxiety, stress, and coping in adults with Down syndrome., Methods: Our group of researchers and adults with Down syndrome conducted an online survey on mental health for adults with Down syndrome. We analysed quantitative data and thematically grouped coping mechanisms., Results: Sixty adults with Down syndrome completed the survey, mean age was 30 years, and 55% of respondents had some employment. Approximately 80% of respondents reported experiencing stress and 75% reported experiencing anxiety. Employed respondents were more likely to use social coping mechanisms., Conclusion: Soliciting responses from adults with Down syndrome about their mental health can provide valuable insights. Mental health is a concern for people with Down syndrome that should be addressed., (© 2024 John Wiley & Sons Ltd.)

Aims: To evaluate the perceptions of parents on general health, oral health, and dental care for children with Down syndrome (DS), and to investigate factors related to parents' perceptions of oral health., Methods and Results: An online questionnaire survey was conducted of parents of children with DS. Forty-three percent and 81% of the parents rated their child's oral health and general health as good, respectively. Parent-rated oral health was strongly associated with general health, followed by the parents' satisfaction with their child's dentist, halitosis, difficulty in dental examination, and the number of times they helped their child with toothbrushing. Seventy-seven percent of the parents were satisfied or rather satisfied with their child's dentist. The parents expected the dentist to reassure their child and to be specialized in the treatment of persons with disabilities. Seventy-three percent of the parents brushed their child's teeth at least once a day, and 92% brushed their own teeth at least twice a day. The number of times the parents brushed their own teeth was strongly associated with the frequency of brushing their child's teeth., Conclusion: General health, a trusting relationship with the dentist, and parental perceptions of oral hygiene affect parent-rated oral health of children with DS., (© 2024 Special Care Dentistry Association and Wiley Periodicals LLC.)

Objective: This study aimed to examine decisional conflict and identify its predictors in Chinese pregnant women who were making decisions about further prenatal testing after receiving a screening result of high-risk for Down syndrome., Method: A cross-sectional study was conducted from September 2020 to July 2021 in Guangzhou, China. Two-hundred and sixty pregnant women receiving a screening result of high-risk for Down syndrome completed a questionnaire comprising the Decisional Conflict Scale, Self-rating Anxiety Scale, and Social Support Rating Scale., Results: The mean decisional conflict score was 28.8 ± 13.6, representing a moderate level. Advanced age (≥35 years), having a religious belief, not knowing about non-invasive or invasive prenatal testing, choosing NIPT for further prenatal testing, high levels of anxiety, and low levels of social support were significant predictors of decisional conflict, explaining 28.4% of its variance (F = 18.115, p  < 0.001)., Conclusions: The results highlighted the necessity of assessing patients' decisional conflict and providing adequate interventions along the prenatal care trajectory. The results also showed that providing good support has an essential value for women by relieving their decisional conflict.

As the most common chromosomal disorder compatible to life, Down syndrome (DS) is caused by an extra copy of chromosome 21. Almost all DS patients have cognitive dysfunction. Therefore, it is important to study the underlying pathogenetic mechanism to elucidate its molecular basis. This article has provided a review for the molecular mechanisms of NRIP1 and DYRK1A genes, which have been closely associated with the cognitive dysfunctions of DS patients. It has also summarized the research progress on the mechanism of DS and development of new therapeutic strategies based on such studies, with an aim to provide insights into the prevention and treatment for the cognitive dysfunctions in DS patients.

Adults with down syndrome (DS) have a lifetime dementia risk in excess of 95%, with a median age of onset of 55 years, due to trisomy 21. Co-occurring Alzheimer's disease (AD) has increased morbidity and mortality, and it is now recommended to screen for AD in all adults with DS beginning at 40 years of age. In this manuscript, we present two clinical cases of adults with DS who developed AD summarizing their medical histories, presenting symptoms, path to diagnosis and psychosocial aspects of care collected from retrospective chart review with caregiver consent. These two cases were chosen due to their complexity and interwoven nature of the medical and psychosocial aspects, and highlight the complexity and nuance of caring for patients with DS and AD., (© 2024 Wiley Periodicals LLC.)

In genetic syndromes such as Down syndrome (DS) and Williams syndrome (WS), difficulties with executive functioning (EF) are a commonly reported feature and a key correlate of long-term success in everyday life. Despite a robust literature in children with these syndromes, it remains unclear how cross-syndrome characteristics of everyday EF relate to adaptive functioning and intelligence among adults with DS and WS, and if these relationships differ between these groups. This study aimed to characterise the profile of strengths and weaknesses in everyday EF using the Behaviour Rating Inventory of Executive Function-Adult Informant Version (BRIEF-A) in older adolescents and young adults with DS and WS. Associations between distinct EFs, adaptive/maladaptive functioning, and intellectual ability were also investigated. Results showed that the WS group displayed profound impairments in almost all BRIEF-A scales, with a large percentage of scores in the clinically significant range. Further, selective EFs (Inhibit, Organisation of Materials, Task Monitor) were able to discriminate between the two genetic syndromes. Contrary to previous research, in WS, Working Memory was linked to adaptive functioning and IQ. In DS, the Task-Monitor and Shift scales were unique predictors of externalising and internalising behaviours, respectively. These findings could have important implications for targeted cognitive interventions in these genetic syndromes., Competing Interests: Declarations. Competing interests: The authors declare no competing interests., (© 2024. The Author(s).)

The family of individuals living with Down Syndrome (DS) often demonstrate high levels of stress associated with the demand for care and difficulties experienced in everyday life. The aim of this cross-sectional study was to assess perceived stress by parents/caregivers of individuals with DS and its association with general perceived self-efficacy and dental outcomes, considering the COVID-19 pandemic's impacts on family's daily activities and finances. A sample of 257 parents/caregivers answered a questionnaire with socioeconomic, dental, and behavioral variables and the short version of the Perceived Stress Scale and the General Perceived Self-Efficacy Scale. The sample was divided into three groups based on perceived stress levels. Associated variables were evaluated using multinomial logistic regression (level of significance 5%), adjusting for socioeconomic factors. The mean perceived stress score was 17.84 ± 5.75 (0-39). Medium stress (second tertile) was associated with finger/nail biting in individuals with DS (OR = 2.05; 95%CI 1.04-4.03; p = 0.038), difficulty in performing oral hygiene (OR = 2.39; 95%CI 1.23-4.65; p = 0.011) and medium and high self-efficacy (OR = 0.12; 95%CI 0.05-0.31; p < 0.001 and OR = 0.38; 95%CI 0.15-0.98; p = 0.046, respectively); high stress (third tertile) was associated with medium and high self-efficacy (OR = 0.25; 95%CI 0.09-0.67; p = 0.006 and OR = 0.05; 95%CI 0.02-0.15; p < 0.001, respectively) and negative impact of COVID-19 in family finances (OR = 3.00; 95%CI 1.39-6.44; p = 0.005). It was concluded that parents/caregivers' perceived stress was averaged and associated with self-efficacy, finger/nail biting, oral hygiene demands, and the financial impact of COVID-19.

Pregnancy and childbirth are uncertain experiences that become even more so when parents receive an unexpected medical diagnosis for their child. In the present study, we document sources of uncertainty and the tools used to manage uncertainty in 44 mothers' narratives about the birth and diagnosis of their child with Down syndrome (DS); we also explore variability in the sources of uncertainty and uncertainty management tools as a function of whether mothers received a prenatal or postnatal diagnosis of DS for their child. Across our sample, thematic analysis revealed four sources of uncertainty in mothers' narratives: navigating dissonance between parents and providers during diagnosis, managing disclosure of the diagnosis to others, anticipating child-centered challenges and adjusting developmental expectations, and anticipating family-centered challenges and adjusting familial expectations. Analyses also revealed four ways that uncertainty was managed: finding balance between parents and providers during diagnosis, reducing knowledge gaps by seeking information, pursuing support and building positive interpersonal relationships, and pursuing support and building positive relationships in DS communities. These findings, along with potential nuance based on whether mothers received a prenatal or postnatal diagnosis of DS for their child, have important implications for healthcare providers and medical professionals regarding how to best communicate DS diagnoses to families as a means of understanding and ultimately reducing the uncertainty they experience., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Scruggs et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Background: Temporal-sampling theory argues that difficulties in the processing of syllable stress auditory markers and in lexical stress discrimination contribute to explaining the language problems of children with developmental language disorder and of those with dyslexia. The theory has not been tested in other developmental disabilities., Aims: This research sought to assess the potential of temporal-sampling theory as a framework to accounting for language difficulties in Down syndrome (DS)., Methods and Procedures: Thresholds for auditory markers of lexical stress, lexical stress discrimination, and receptive vocabulary were studied in teenagers and young adults with DS and in peers with other intellectual disability (ID) of unknown origin matched on chronological age and non-verbal cognition., Outcomes and Results: Frequency and intensity thresholds were higher in participants with DS, and their lexical stress discrimination and receptive vocabulary skills were lower than those of the group with other ID. Lexical stress discrimination was predicted by intensity thresholds and group, while receptive vocabulary was only predicted by lexical stress discrimination., Conclusions and Implications: The results suggest that temporal-sampling theory is useful to explain language difficulties in individuals with DS or with other ID. This opens up new window opportunities for the design of language intervention programs in such populations., Competing Interests: Declaration of Competing Interest The authors declare no conflict of interest., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Objective: To assess the impact of treatment with orthodontic aligners (OA) on oral health-related quality of life (OHRQoL) in patients with trisomy 21 (T21) compared to non-syndromic patients., Materials and Methods: The sample consisted of 30 patients, both sexes, aged between 11 and 35 years, divided into two groups: T21 (n = 10, patients with T21, treated prospectively) and CONTROL (n = 20, control group, non-syndromic patients, from the Orthodontic Laboratory of UNOPAR). In both groups, patients were treated with Invisalign orthodontic aligners (Align Technology), following the same treatment parameters. Participants, assisted by their caregivers, when necessary, answered Oral Health Impact Profile (OHIP-14) instrument and the patient's guardians answered the Oral Health Scale for People with Down's syndrome (OHDS) instrument, before (T0) and after 30 (T1), 180 (T2), and 365 (T3) days from the start of treatment. Friedman tests with Bonferroni correction and Mann-Whitney tests were used (p < .05)., Results: For the OHDS instrument, it was observed that for the eating and communication domains and an overall score, the treatment with OA positively impacted the lives of T21 patients (p < .05). Regarding the OHIP-14 instrument, the intragroup evaluation showed that in the CONTROL group, there was no significant difference between the evaluated times; while for the T21 group, there was a significant positive impact (p < .05)., Conclusion: The results showed that the treatment with aligners positively impacted the OHRQoL of T21 patients, and these results were perceived by caregivers, mainly in relation to issues related to eating and communication., (© 2024 Special Care Dentistry Association and Wiley Periodicals LLC.)

The construct of quality of life (QoL) includes aspects of health and well-being of people. Down syndrome [DS] or trisomy 21 is one of the most common congenital anomalies. DS is characterized by motor and cognitive alterations that affect health and QOL of both the child and caregiver.In pediatrics, there are various instruments to assess Health-Related Quality of Life (HRQoL) and QoL. The advantage of these instruments is that they can be implemented in any type of disease and population in general. However, they may have certain disadvantages, such as the difficulty in evaluating specific aspects of each disease or condition related to Down syndrome. The aim of this study was to identify 1: instruments used to assess quality of life in children with Down syndrome. 2: psychometrics properties of instruments validated in children with Down syndrome to assess quality of life. Methods A Scoping review was conducted to identify instruments used in children and adolescents with Down syndrome, and a second systematic searched psychometric properties of these instruments. The electronic databases PubMed, Embase, Epistemonikos and other sources were explored with a search strategy that included keywords such as "Down syndrome," "Quality of life" or "Life Quality," "Health-Related Quality of Life" and psychometrics properties. The quality of the included studies was evaluated using the COSMIN (Based Standards for the Selection of Health Measurement Instruments) methodology. Results Twenty-seven studies were selected that used twelve instruments to evaluate quality of life in children or adolescents with Down syndrome. Two of the twelve evaluated quality of life and ten health-related quality of life. In the second search, ten studies reported the psychometric properties of six instruments evaluated in minors with Down Syndrome. Conclusion There is limited information available regarding the psychometric properties of instruments used to assess quality of life, particularly health-related quality of life. Commonly employed instruments in this area include the PedsQL 4.0 and KIDSCREEN. Notably, while the PedsQL 4.0 lacks specific evaluation in children with DS, data from KIDSCREEN assessments are inconsistently reported. Rigorous evaluation of the performance of Kidslife and Kidslife Down in clinical settings is necessary, or the development of new instruments tailored for children with DS is warranted to comprehensively assess quality of life in clinical settings., (© 2024. The Author(s).)

Due to improvements in recognition and management of their multisystem disease, the long-term survival of infants, children, and adolescents with trisomy 21 and congenital heart disease now matches children with congenital heart disease and no genetic condition in many scenarios. Although this improved survival is a triumph, individuals with trisomy 21 and congenital heart disease have unique and complex care needs in the domains of physical, developmental, and psychosocial health, which affect functional status and quality of life. Pulmonary hypertension and single ventricle heart disease are 2 known cardiovascular conditions that reduce life expectancy in individuals with trisomy 21. Multisystem involvement with respiratory, endocrine, gastrointestinal, hematological, neurological, and sensory systems can interact with cardiovascular health concerns to amplify adverse effects. Neurodevelopmental, psychological, and functional challenges can also affect quality of life. A highly coordinated interdisciplinary care team model, or medical home, can help address these complex and interactive conditions from infancy through the transition to adult care settings. The purpose of this Scientific Statement is to identify ongoing cardiovascular and multisystem, developmental, and psychosocial health concerns for children with trisomy 21 and congenital heart disease from birth through adolescence and to provide a framework for monitoring and management to optimize quality of life and functional status.

Background: The dual task training (DTT) has been shown to improve postural and cognitive performances in many populations. Therefore, it seems of interest to explore the effect of such training modality in individuals with Down syndrome (DS) presenting both cognitive and postural deficits., Aims: This study explored the effect of a DTT compared to a single task training (STT) on postural and cognitive performances in adolescents with DS., Methods and Procedures: The center of pressure velocity (CoP Vm ) and the cognitive performance in the selective word recall test were recorded under single task (ST) and DT conditions before and after 8 weeks in the STT group (STTG), the DTTG and the control group (CG)., Outcomes and Results: Before training, CoP Vm values increased and cognitive performances decreased (p < 0.001) during the DT compared to ST conditions in all groups. After training, CoP Vm decreased (p < 0.001) in the DTTG and the STTG under the ST conditions. However, under DT conditions, these values decreased (p < 0.001) only in the DTTG. The cognitive performance increased (p < 0.001) only in the DTTG in both ST and DT conditions., Conclusion: The DTT is strongly recommended to improve both postural and cognitive performances in individuals with DS notably in DT conditions., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

There is convincing evidence that training spatial abilities leads to improved mathematics performance in typically developing (TD) children. However, a lack of information on mathematical development and spatial-mathematical associations in people with Down syndrome (DS) hinders the translation of these interventions. Here, we established developmental trajectories of mathematics and explored whether spatial ability predicts attainment on different mathematics measures in individuals with DS. Participants with DS (n = 36; ages 9-35 years) and TD children (n = 132; ages 4-11 years) completed three groups of tasks: spatial tasks assessing different subdomains of spatial thinking; mathematics tasks assessing early mathematics skills, mathematical reasoning, arithmetic, and geometry; and IQ tasks. The developmental trajectories of mathematics performance against mental age revealed similar starting points of the trajectories and similar rates of development for DS and TD groups. Furthermore, after controlling for verbal skills, spatial skills explained 5.8% to 18.1% of the variation in mathematical performance across different mathematics tasks, and the pattern of spatial-mathematical relations was similar for DS and mental age-matched TD groups. This shows that mathematical development in DS groups appears to mirror that in TD children, indicative of delay only. Strong spatial-mathematical relations were observed for individuals with DS, like those seen for TD participants. This is the vital preliminary knowledge needed to support the design and use of spatial intervention for improving mathematics in individuals with DS., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)

Objective: There is a general assumption that Muslim women refuse Down syndrome screening, and therefore, many health practitioners do not offer it or briefly discuss it with their participants. This study aims to objectively assess women's awareness, knowledge, and attitudes toward Down Syndrome screening (D.S.S) in a Muslim-majority population., Methods: We conducted a cross-sectional study among attendees of antenatal clinics at a major university hospital in Saudi Arabia, aiming for a sample size of at least 385 Muslim women. A semi-structured questionnaire assessed awareness of different D.S.S. options and the source of that information (2 items), specific knowledge of D.S.S. (14 items), and attitudes (4 items). The knowledge and attitudes scores were calculated using a five-level agreement Likert-type scale., Results: Among 434 participants, with an even distribution among all age groups and a majority of a college degree holder or higher (71%), 178 (41.0%) reported awareness of D.S.S. Factors associated with increased awareness were maternal age above 40 or those under 30, nulliparity, and extended family history of fetal congenital anomalies (P-value = 0.03,0.015, and 0.017, respectively). Recognized tests were ultrasound measurement of nuchal translucency (71.9%) and first-trimester serum screening (58.4%). The sources of knowledge were obstetricians (53.9%), followed by family and friends (27.0%). The overall mean ± SD knowledge score was 53.9 ± 8.7 out of 70, and the mean attitude score was 17.4 ± 2.9 out of 20. Having 1 or 2 children is associated with a higher knowledge score, and most participants who reported awareness of D.S.S. (51.7%) had a favorable attitude toward screening., Conclusion: Awareness of D.S.S. among Muslim women is associated with favorable attitudes towards testing, contradicting the general assumption and highlighting the need for systematic education to increase awareness and subsequent testing uptake., (© 2024. The Author(s).)

According to a biopsychosocial framework, personal and environmental factors might be mediators or facilitators/barriers, respectively, to functioning. However, it is not known how these factors can impact independence in household chores in children/adolescents with Down syndrome (DS). This study explored whether and how personal/environmental factors are associated with the independence level in household chores of children/adolescents with DS in Brazil. Caregivers of twenty-eight children/adolescents with DS were interviewed using the CHORES and a standardized questionnaire about personal (child's age and sex) and environmental (socioeconomic level and maternal schooling) factors. Multiple linear regression analysis identified if/how these factors are associated with level of independence. For CHORES self-care and CHORES total, sex was a significant variable explaining 21.8% and 15.8%, respectively, of the variation in the outcomes. For the outcome CHORES family care none of the variables was significant. Female sex was associated with a lower need for assistance. We conclude that only the personal factor assessed related to female sex in children with DS was associated with the independence level in household chores. This finding highlights the importance of health care providers and families to encourage the independence in chores regardless of sex and promote opportunities for both boys and girls.

Background: Parents' conceptualizations of adulthood for their emerging adults with Down syndrome have the potential to impact the transition planning process as families prepare for life after graduation., Aims: This study aimed to explore parent perceptions of the meaning of adulthood for their emerging adults with Down syndrome., Methods: In this qualitative study, we interviewed 11 parents of emerging adults with Down syndrome using phenomenological methodology and analysed these data using thematic analysis., Results: Three topics emerged: (1) Parents' constructions of the meaning of adulthood; (2) Parents' perceptions about the transition to adulthood; and (3) Parents' perceptions of current adult life skills. Ten themes arose out of these topics., Conclusions: Parents expressed ambivalence about the meaning of adulthood for their emerging adults with Down syndrome, sharing that in some ways they were adults and in others they were not. The meaning of adulthood was closely tied to obtained skills, particularly those related to personal safety., (© 2024 John Wiley & Sons Ltd.)

Background: Children with Down syndrome (DS) often need support building language, socialization, and regulation, yet few receive behavioral intervention for this. The Joint Attention, Symbolic Play, Engagement and Regulation (JASPER) intervention holds promise as a clinician-caregiver-mediated approach., Aims: The aims of this pilot study were to (1) describe the behavioral phenotype of children with DS (2) quantify change in child engagement following JASPER receipt, (3) measure caregiver adoption of JASPER strategies, and (4) generate hypotheses and directions for future research., Methods and Procedures: Sixteen toddlers with DS and their caregivers enrolled in the study. Dyads were randomly assigned to one of two conditions: immediate intervention or waitlist control. During the COVID-19 pandemic, intervention was delivered remotely., Outcomes and Results: Caregivers learned to implement JASPER strategies and pilot data suggest improvements in joint engagement and regulation during play. Case series data show individual heterogeneity of intervention response. Remote intervention delivery may be associated with greater participant retention., Conclusions and Implications: JASPER may be a viable treatment option to improve joint engagement and emotion regulation in young children with DS. Parents appear receptive to learning and implementing JASPER strategies at home. Remote JASPER delivery may improve participation in research or treatment programs., Competing Interests: Declarations of interest None, (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

We know little about the ability to explore and navigate large-scale space for people with intellectual disability (ID). In this cross-syndrome study, individuals with Down syndrome (DS), individuals with Williams syndrome (WS) and typically developing children (TD; aged 5-11 years) explored virtual environments with the goal of learning where everything was within the environment (Experiment 1) or to find six stars (Experiment 2). There was little difference between the WS and DS groups when the goal was simply to learn about the environment with no specific destination to be reached (Experiment 1); both groups performed at a level akin to a subset of TD children of a similar level of non-verbal ability. The difference became evident when the goal of the task was to locate targets in the environment (Experiment 2). The DS group showed the weakest performance, performing at or below the level of a subset of TD children at a similar level of non-verbal ability, whilst the WS group performed at the level of the TD subset group. The DS, WS and TD group also demonstrated different patterns of exploration behavior. Exploration behaviour in DS was weak and did not improve across trials. In WS, exploration behavior changed across trials but was atypical (the number of revisits increased with repeated trials). Moreover, transdiagnostic individual difference analysis (Latent Profile Analysis) revealed five profiles of exploration and navigation variables, none of which were uniquely specific to DS or to WS. Only the most extreme profile of very poor navigators was specific to participants with DS and WS. Interestingly, all other profiles contained at least one individual with DS and at least one individual with WS. This highlights the importance of investigating heterogeneity in the performance of individuals with intellectual disability and the usefulness of a data-driven transdiagnostic approach to identifying behavioral profiles., Competing Interests: Declaration of competing interest None., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

The use of prenatal testing in Japan is expected to increase. However, there are ethical concerns regarding pregnancy termination upon the detection of fetal chromosomal abnormalities, such as Down syndrome. Furthermore, factors associated with decision-making following a positive result of Down syndrome after prenatal screening remain unclear. Therefore, we aimed to evaluate the association between decision-making among university students following a hypothetical positive result of Down syndrome in prenatal screening and their perception of their future career development defined as vocational identity. This cross-sectional study included 256 individuals (109 men, 143 women, and four who preferred not to answer). Self-anonymous semi-structured questionnaires were distributed to collect information regarding socio-demographic characteristics, vocational identity, and decision-making following a positive prenatal screening result of Down syndrome. Vocational identity was assessed using the Vocational Identity Measure. Women students were more likely to intend to continue the pregnancy (76.9%, p < 0.05); however, students without siblings (68.2%, p < 0.01) and men and women students with higher scores for vocational identities who were raised in an academically oriented family were more likely to intend to terminate the pregnancy (p < 0.05). Therefore, gender and vocational identity were associated with decision-making following a positive result of Down syndrome. Further qualitative and quantitative studies on factors associated with decision-making following a positive result of Down syndrome are necessary to eliminate the burden and social barrier, including gender division of labor and the effect of vocational career for people wishing to parent a child with Down syndrome., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Sunagozaka, Tsutsumi. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Little is known about the effect of using an attentional focus instruction on motor performance in people with intellectual disabilities. Therefore, this study explored the effects of different attentional focus instructions on gross motor skill performances in individuals with Down syndrome. Seven community-dwelling participants (age 25.2±3.2 yrs, height 1.70±0.04 m, body mass 72.0±6.3 kg) voluntarily participated in the study. Motor performance on 5-meter running (5m sprint), vertical jump (countermovement jump with arm swing, CMJ), broad jump (standing broad jump, SBJ), forward medball throw (FMBT) or overhead medball backward throw (OMBT) and rising-up from a chair (five repetition sit-to-stand, 5STS) were recorded while performing internal-focus (IF) or external-focus (EF) instructions. EF induced significantly (p<0.05) better performance than IF in CMJ (EF: 15±9 cm; IF: 11±8 cm, median ±interquartile range), SBJ (EF: 0.8±1.05 m; IF: 0.5±1.0 m), FMBT (EF: 1.5±1.4 m; IF: 1.4±1.1 m), OMBT (EF: 4.0±1.5 m; IF: 3.6±1.1 m) and 5STS (EF: 14.2±5.4; IF:15.3±7.7 s). The time over the 5m sprint tended to be shorter with EF (4.0±2.0 s) than IF (5.05±3.3 s) but the difference did not reach the statistical significance (p = 0.29). Physical trainers and school teachers should be encouraged to manage different types of attentional focus instructions to improve cognitive and gross motor performances in persons with Down syndrome., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Cavaggioni et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Introduction: The aims of this systematic review and meta-analysis are to synthesise quality of life (QOL) of family caregivers of children and young adults with Down syndrome (DS) and determine factors affecting their QOL., Method: This review was conducted as per Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline. Key search terms were "quality of life", "down syndrome" and "trisomy 21". Meta-analysis using random effect model was conducted where feasible. All studies underwent qualitative synthesis. The study protocol was registered with PROSPERO (CRD42023413532)., Results: Eighteen studies with 1956 caregivers were included. Of the 10 studies utilising the World Health Organization Quality of Life Instrument-Brief Version, 5 were included in the meta-analysis. Psychosocial domain had the highest score with mean (95% confidence interval [CI]) of 63.18 (39.10-87.25). Scores were poorer in physical, environmental and social domains: 59.36 (28.24-90.48), 59.82 (19.57-100.07) and 59.83 (44.24-75.41), respectively. Studies were heterogenous with I 2 values ranging from 99-100% ( P <0.01). The remaining 8 studies used 6 other instruments. Qualitative synthesis revealed that caregivers' QOL was adversely affected by child-related factors, such as level of functional independence, developmental delay, presence of multiple comorbidities, impaired activities of daily living and poor sleep quality. Environmental factors that adversely affected caregivers' QOL included number of children, housing and support from the family. Personal factors that affected caregivers' QOL included age, being a single mother, low education and low income., Conclusion: QOL of caregivers of children with DS was lower than population reference data. Understand-ing the factors that influence family caregivers' QOL is an essential step towards improving the QOL of caregivers and their children with DS.

Introduction: Down syndrome (DS) negatively impacts the well-being of affected individuals. This study aimed to summarise the evidence on quality of life (QOL) of children and young adults with DS using quantitative measures from caregivers' perspective and identify factors that affected their QOL., Method: Database search was conducted on PubMed, Embase, Web of Science and CINAHL on 24 April 2024. Meta-analysis using random effects model was conducted where feasible. All studies underwent qualitative synthesis. The study protocol was registered with PROSPERO (CRD42023413532)., Results: Seventeen studies involving 3038 children with DS using various QOL measures were included: Pediatric Quality of Life Inventory (PedsQL) (8 studies), KIDSCREEN (4 studies), KidsLife (2 studies), The Netherlands Organization for Applied Scientific Research Academic Medical Center Children's QOL (2 studies) and Personal Outcome Scale (1 study). Meta-analysis on PedsQL studies compared scores between children with DS and typically developing (TD) children. Total scale score was lower in children with DS (mean 70.28, 95% confidence interval [CI] 64.31-76.24) compared to TD children (mean 88.17, 95% CI 80.50-95.83). All subdomains of PedsQL were also lower in children with DS. Within the domain of psychosocial health, children with DS had statistically significant lower social functioning (standardised mean difference -1.40, 95% CI -2.27 to -0.53) and school functioning (standardised mean difference -1.09, 95% CI -1.55 to -0.62) scores, but similar emotional functioning scores. Qualitative synthesis revealed poorer subdomain QOL compared to TD children, especially in social functioning and cognitive functioning. QOL worsened during adolescent years. Family variables (parental education and occupation) did not affect parental perception of children's QOL. Children with DS who had higher intelligent quotient had better QOL., Conclusion: Children with DS have lower caregiver-reported QOL than TD children, especially in social functioning and school functioning subdomains.

Background: Typically-developing siblings of individuals with Down Syndrome often experience complex emotions towards their sibling. This study explored how social support, personal resources (optimism, sense of coherence [SOC]), and individual variables (sex, religious affiliation, siblings' functionality) may impact emerging adult siblings' emotions toward their sibling with Down Syndrome., Methods: Participants were 292 siblings of individuals with DS ranging in age from 18-27 (M=21.54, SD=2.50). Participants completed self-report questionnaires exploring optimism, SOC, support, and acceptance., Results: Higher levels of support and optimism were positively associated with positive emotions, and higher SOC with lower levels of negative emotions. Siblings' functionality and religious affiliation interacted with variables to predict emotions., Conclusions: This study contributes to a greater understanding of how emotions may play a role in sibling relations during the emerging adulthood stage. It also provides unique insight into how religious affiliation may be associated with more positive outcomes for siblings., Competing Interests: xDeclaration of Competing Interest None., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Background: Narrative ability is crucial for social participation in everyday and school life but involves different language abilities such as vocabulary and morpho-syntax. This is particularly difficult for individuals who display both language and cognitive impairments. Previous research has identified productive vocabulary as a possible key factor for narrative performance in individuals with Down syndrome. Considering a close connection between lexical and morpho-syntactic performance within language acquisition and the distinct impairments that individuals with Down syndrome display concerning their morpho-syntactic skills, the nature of a relation between vocabulary and narrative skills under the influence of grammatical deficits requires further investigation., Methods: Narrations were obtained from 28 children and adolescents with Down syndrome (aged 10;0-20;1) using a non-verbal picture book. Narrative abilities were rated using the Narrative Scoring Scheme across seven narrative aspects (including macro- and microstructure). Vocabulary analyses and morpho-lexical context analyses including verb and conjunction enumerations, evaluation of verb position and MLU were conducted. Findings from the transcript analysis have been supplemented with data from standardized language measures evaluating expressive lexical and morpho-syntactic development. A multiple regression analysis was conducted to identify significant predictors for narrative outcome in the participants with Down syndrome., Results: Lexical analyses revealed a high heterogeneity in production of subordinating conjunctions as a link between lexical and morpho-syntactic abilities. Comparisons of standardized and narrative data demonstrated differences in subordinate clause production depending on the elicitation setting. A multiple regression analysis identified the number of different verbs in the narrative task as the most significant predictor for narrative performance in individuals with Down syndrome., Discussion and Implications: The findings of this study contribute to the knowledge regarding factors that influence narrative performance in individuals with language impairment. A differentiated verb lexicon can be identified as the key ability for reaching advanced narrative skills in participants with Down syndrome. These findings are of clinical relevance for therapeutic and educational support and contribute to an understanding of the relation between strengths in vocabulary and morpho-syntactic weaknesses in individuals with Down syndrome within communicative participation., Competing Interests: Declaration of Competing Interest The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

A 2003 survey revealed the scope of mothers' dissatisfaction with their postnatal support following a diagnosis of Down syndrome (DS). Substantial proportions of mothers reported that providers conveyed diagnoses with pity, emphasized negative aspects of DS, and neglected to provide adequate materials explaining DS. This study follows up on the 2003 survey by assessing whether parents' experiences have improved. Four DS nonprofit organizations, which participated in the original study, distributed a mixed-methods survey to families who have had children with DS between 2003 and 2022. Quantitative analysis assessed correlations among responses and differences between the 2003 and 2022 survey groups. Open-ended responses were qualitatively analyzed. Compared to the 2003 findings, parents' perceptions of their postnatal care have not improved (N = 89). Parents are increasingly likely to report that their providers pitied them, omitted positive aspects of DS, and provided insufficient materials describing DS. Substantial proportions of parents reported fear (77%) and anxiety (79%), only 24% described receiving adequate explanatory materials, and parents were 45% likelier to report that physicians discussed negative aspects of DS than positive aspects. Qualitatively, substantial numbers of parents recounted insensitive conduct by providers. These results suggest that despite interventions, parents' experiences of postnatal diagnoses of DS have not improved over time. Certain provider behaviors-such as describing positive aspects of DS and providing comprehensive explanatory materials-can reduce fear and anxiety, pointing to directions for reform., (© 2024 Wiley Periodicals LLC.)

Background: Down syndrome (DS) is one of the most common chromosomal abnormalities, and children with DS have increased risks of receiving diagnoses of specific comorbidities., Aims: This study aimed to assess the frequencies and relationships between sleep problems, gastrointestinal (GI) symptoms, comorbid psychopathology, and challenging behavior., Methods and Procedures: The Children's Sleep Habits Questionnaire, Gastrointestinal Symptom Inventory, Autism Spectrum Disorder-Comorbid for Children, and Behavior Problems Inventory-Short Form were completed by 123 parents of children and adolescents with DS., Outcomes and Results: The frequency of GI symptoms was 74.8 %, with high frequencies also found for: sleep problems (100 %), challenging behavior (100 %), and moderate to severe levels of comorbid psychopathology (tantrum=80 %; repetitive behavior=63 %; avoidant behavior=82 %; worry/depressed=61 %; conduct behavior=100 %; over-eating=100 %; under-eating=100 %). A significant moderate correlation was found between total GI symptoms and self-injurious behavior frequency. Children who presented with abdominal pain engaged in self-injurious behavior more frequently than those with no abdominal pain., Conclusions and Implications: Findings indicated a high frequency of sleep problems, comorbid psychopathology, GI symptoms, and challenging behavior and demonstrated a relationship between GI symptoms and self-injurious behavior in children and adolescents with DS. This research illustrated the importance of investigating comorbid conditions in individuals with DS. WHAT THIS PAPER ADDS?: Down Syndrome (DS) is a genetic condition characterized by trisomy 21 and is a leading cause of intellectual disability worldwide. The prevalence of DS is commonly associated with advanced maternal age and is associated with multiple comorbid conditions. The current study aimed to investigate the frequency of and relationship between sleep problems, gastrointestinal symptoms, comorbid psychopathology, and challenging behavior in children and adolescents with DS. High-frequency levels were found for sleep problems (100 %), challenging behavior (100 %), gastrointestinal symptoms (74.8 %), and moderate to severe levels of the different comorbid psychopathologies (tantrum=80 %; repetitive behavior=63 %; avoidant behavior=82 %; worry/depressed=61 %; conduct behavior=100 %; over-eating=100 %; under-eating=100 %). Results indicated a significant difference in self-injurious behavior frequency between individuals who presented with abdominal pain and those who did not. This study is the first to investigate the relationship of multiple comorbid conditions in a sample of children with DS. This paper adds to the literature by demonstrating the frequency of a number of comorbid conditions in children and adolescents with DS. The paper also adds novel findings to the literature by investigating the relationships between comorbid conditions in this population. The findings of this paper highlighted the frequency and comorbidities that exist between gastrointestinal symptoms, sleep problems, comorbid psychopathology, and challenging behavior. Analyses indicated that those who presented with abdominal pain, engaged in self-injurious behavior more frequently. Sleep problems, gastrointestinal symptoms, comorbid psychopathology, and challenging behavior in children and adolescents with Down Syndrome., Competing Interests: Declaration of Competing Interest All the authors of this article declare that they have no conflict of interest., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Purpose: Down syndrome (DS) is a common abnormality associated with anorectal malformation (ARM) and Hirschsprung's disease (HD). However, quality of life (QOL) in ARM and HD patients with DS is under-researched. This study compares parent-reported QOL and bowel function in ARM and HD patients with DS to those without., Methods: Between December 2020 to February 2023, parents of ARM and HD patients with and without DS aged 3-17 years who had undergone surgery > 12 months prior at four tertiary referral centers were recruited. We used the Pediatric Quality of Life Inventory™ (PedsQL™) Generic Core Scales, General Well-Being (GWB) Scale and Family Impact (FI) Module questionnaires, and the Rintala bowel function score (BFS)., Results: There were 101 ARM, 9 (8.9%) of whom had DS; and 87 HD, of whom 6 (6.9%) had DS. Parent-reported Core scores in ARM and HD with DS were comparable to those without DS. However, ARM and HD with DS had worse scores in the FI Module and bowel function than those without DS., Conclusion: Although parent-reported QOL in ARM and HD with DS is similar to those without DS, family impact and BFS are worse. Our findings are limited by small sample size in proportion of DS patients., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: Dyadic caregiver-child interactions are commonly used to examine children's language learning environments. However, children frequently interact with multiple caregivers and/or siblings if they come from homes with multiple caregivers and siblings. Thus, we examined if and how caregiver opportunities to respond (OTRs) varied when sampled across three interaction configurations., Method: Twelve children with Down syndrome ( M age = 40.82 months) and their biological parents participated in the current study. We collected separate mother-child and father-child dyadic interactions and one family choice interaction (i.e., both caregivers present and occasionally siblings) in families' homes. We analyzed if differences in the caregiver's OTR frequency and type-explicit and implicit-existed among dyadic and family choice configurations., Results: We found that, during family choice interactions, children were exposed to fewer OTRs when combining the total number of father and mother OTRs compared to dyadic caregiver-child interactions. This effect was large for explicit OTRs (mother-dyadic vs. combined family choice: g = -1.99, confidence interval [CI] [-3.00, -1.00]; father-dyadic vs. combined family choice: g = -0.84, CI [-1.84, -0.11]). For implicit OTRs, effects were small for mother-dyadic versus combined family choice ( g = -0.34, CI [-1.17, 0.48]) and negligible when comparing father-dyadic with combined family choice ( g = -0.08, CI [-0.90, 0.73])., Conclusion: Our preliminary findings highlight the need for a more nuanced understanding of children's language learning environments to better understand how caregivers support their children's language development., Supplemental Material: https://doi.org/10.23641/asha.25579905.

Introduction: Generally, mothers provide the majority of caring for children who have Down syndrome. They pose challenges not only with regard to the acceptability of the child situation but also with regard to the provision of care for children with DS., Aim: To explore the experiences of mothers parenting children with DS in Indonesia, to give a better understanding of their needs, which is necessary for the delivery of treatment., Methods: A descriptive qualitative research with content analysis was used. Study participants (15 mothers) were purposively sampled from attendees of a State Special School for students with disabilities. Data was collected via semi-structure interviews and were audio recorded. Participant's statements underwent content analysis, and the principle of trustworthiness was subsequently applied., Results: Five main themes describing participants' experiences were identified: (1) parenting experiences - the impacts, (2) special needs, (3) parenting barriers, (4) parenting facilitators, and (5) mothers' expectations., Conclusions: The study findings showed that the mothers viewed their situation in both positive and negative ways. Despite the limited sample size in this exploratory study, the results offer new insights into raising a child with DS in a particular cultural setting., Implications for Practice: This study offers important information to families and healthcare providers to improve awareness of the disorder and its appropriate management methods. It is important that an exploration of the experiences of mothers will provide healthcare professionals and families with an understanding of the situation. This understanding is essential for the effective management and delivery of treatment., Competing Interests: Declaration of competing interest The authors declare no competing interests., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Background: Down syndrome (DS) is a neurodevelopmental disorder of genetic origin with a cognitive-behavioural profile that distinguishes it from other syndromes. Within this profile, language difficulties are particularly marked, having been more studied in childhood than in adulthood. More generally, there is a paucity of research on the prosodic skills of individuals with DS, despite the relevance of this linguistic component for effective communication., Aims: This study aimed to analyse, for the first time, the prosodic profile of Spanish-speaking teenagers and young adults with DS. We hypothesized that participants with DS would show significantly lower skills for the perception and production of prosodic functions and forms when compared to peers with intellectual disability (ID) of unknown origin. We also hypothesized that teenagers and young adults with DS would have better prosody perception than prosody production., Methods & Procedures: The final sample included in the study comprised 28 Spanish-speaking teenagers and young adults with DS and 29 teenagers and young adults with other ID matched on chronological age and nonverbal cognition. Their prosodic skills were tested by means of the Profiling Elements of Prosody for Speech and Communication battery. This battery allows for the separate evaluation of the comprehension and expression of the communicative functions of prosody and the discrimination and production of the forms that carry out such functions., Outcomes & Results: In the prosody function tasks, which are the most adaptive tasks for the communicative process, we found, as expected, significantly lower scores on the turn-end, chunking, and focus tasks in the group with DS. However, no significant between-group differences were found for the affect tasks. Participants with DS also had significantly lower scores on the prosodic form tasks than participants with other ID. The results of the comparison between prosodic perception and production skills showed that a generalization about a better profile in comprehension versus production is not possible and that there is a dependence on the demands of the prosodic task undertaken., Conclusions & Implications: The findings contribute to the ongoing development of the language profile of teenagers and young adults with DS and imply the need to design prosodic intervention programs based on their specific profile., What This Paper Adds: What is already known on the subject Prosody is a fundamental element of language, and its mastery affects the effectiveness of communication. However, research on prosody in Down syndrome (DS) that offers a holistic view from a psycholinguistic approach is still scarce. To date, studies focused on providing a detailed profile of prosodic skills in individuals with DS have been mainly conducted with a few English-speaking children. These studies have shown that the comprehension and production of prosody is severely impaired, especially when considering affect and focus production, as well as the perception and production of prosodic forms. During childhood, greater efficacy is found in prosody comprehension than in prosody expression. What this study adds This is the first study analysing the prosodic profile of a large group of Spanish-speaking teenagers and young adults with DS. Poorer performance in the perception and production of both prosodic functions and forms was observed in participants with DS compared to participants with intellectual disability of unknown origin matched on chronological age and nonverbal cognition. Unlike what has been previously found in children, teenagers and young adults with DS performed at the same level as the control group on the understanding and expression of affect through prosodic cues. Results also showed that a generalization about a better prosody profile in comprehension versus production is not possible. What are the clinical implications of this work? This study provides new data on the prosodic skills of Spanish-speaking teenagers and young adults with DS. Given the impact of prosody on effective communication and the pattern of difficulties found in this study, speech and language therapists working with individuals with DS should consider including prosodic skills in interventions not only in childhood but also in adolescence and adulthood. Therefore, the prosodic profile of strengths and weaknesses in individuals with DS found in this research has direct implications for clinical practice., (© 2023 The Authors. International Journal of Language & Communication Disorders published by John Wiley & Sons Ltd on behalf of Royal College of Speech and Language Therapists.)

Caregiving for disabled individuals among Neanderthals has been known for a long time, and there is a debate about the implications of this behavior. Some authors believe that caregiving took place between individuals able to reciprocate the favor, while others argue that caregiving was produced by a feeling of compassion related to other highly adaptive prosocial behaviors. The study of children with severe pathologies is particularly interesting, as children have a very limited possibility to reciprocate the assistance. We present the case of a Neanderthal child who suffered from a congenital pathology of the inner ear, probably debilitating, and associated with Down syndrome. This child would have required care for at least 6 years, likely necessitating other group members to assist the mother in childcare.

Trisomy 21 (T21) is a genetically determined human condition that occurs in one in every 800 births worldwide. Improvements in lifelong care have generated discussion about the mental health of people with T21. However, suicidal behavior in this population has still received little attention. This integrative review aimed to understand and synthesize scientific production on the topic of 'suicide in people with T21'. We conducted the review in the Virtual Health Library, PubMed, and PsycInfo databases using the descriptors 'Down syndrome', 'Down's syndrome', and 'trisomy 21' in combination with 'suicide', 'suicide attempted', and 'suicidal ideation'. We analyzed articles published until 10 th October 2023. The selected articles were evaluated for their level of evidence and categorized thematically. Eight articles from three countries met the eligibility criteria: three case reports, three narrative literature reviews, one observational cross-sectional study, and one cohort study. The articles were organized and discussed in four categories: (1) scientific literature impressions about suicide in individuals with T21; (2) T21 life course issues and forms of expression of suicidal behavior; (3) suicide frequency in individuals with T21; and (4) possible implications for caring for individuals with T21 who exhibit suicidal behavior. The results revealed a lack of literature on the subject, which indicates the need for additional research. Based on the evidence available, suicidal behavior among people with T21, while a possible phenomenon, seems uncommon. Health professionals should investigate T21 individuals' mental health, searching for depression and self-injury symptoms.

This article aims to advance knowledge related to the concept of the 'shame-blame complex' by analysing the accounts and experiences of parents with cognitively disabled children. It draws on 29 interviews with parents of children with Down syndrome and shadowing sessions with one family, carried out in Italy. Results show how the feeling of shame as a consequence of being associated with a disabled child is turned into blame for bad parenting. The sources of this blaming process are twofold: firstly, neoliberalism has disseminated an intensive parenting model based on the imperative of individual responsibility and risk avoidance. Secondly, ableism acts as a network of processes and beliefs that produce a particular kind of self and body as the perfect and complete human being. Participants have been held responsible for their children's condition because they avoided prenatal screening or continued a pregnancy after receiving a positive result. Consequently, parents' moral culpability for their children's diversity and their social marginalisation were enhanced. Although the interviewees resist the shame of being associated with a cognitively disabled child and the blame for bad parenting, they seem unable to escape from the grips of the shame-blame complex. The latter has structural and cultural underpinnings. In an age of 'neoliberal-ableism', this complex is indeed a powerful weapon to erode the rights of families with cognitively disabled members., (© 2024 The Authors. Sociology of Health & Illness published by John Wiley & Sons Ltd on behalf of Foundation for the Sociology of Health & Illness.)

We report a review examining the psychological wellbeing of parents of children with Down syndrome (DS) relative to that of parents of typically developing (TD) children. A systematic search identified 57 relevant studies, which were synthesised meta-analytically. Relative to their counterparts with TD children, mothers and fathers of children with DS reported higher levels of parenting stress (mothers: g = 0.57, 95% CI [0.33, 0.81]; fathers: g = 0.40, [0.24, 0.56]), depressive symptoms (mothers: g = 0.42, [0.23, 0.61]; fathers: g = 0.25, [0.02, 0.48]) and psychological distress (mothers: g = 0.45, [0.30, 0.60]; fathers: g = 0.63, [0.26, 0.99]). Small effects were found for anxiety for mothers (g = 0.16, [0.03, 0.29]), with no differences for fathers (g = 0.03, [-0.25, 0.32]). No group differences were found for positive impact of parenting (mothers: g = -0.09, [-0.25, 0.07]; fathers: g = -0.04, [-0.30, 0.22]), while evidence concerning other positive wellbeing outcomes was limited. No significant moderating effects of child age range, country income level, or group differences in parental education level were identified, but limited subgroup analyses were possible. Raising a child with DS may be associated with elevated stress, depressive symptoms, and psychological distress for mothers and fathers. However, levels of parenting reward appear equivalent to those experienced by parents raising TD children., Competing Interests: Declaration of competing interest This review is associated with the PhD studentship awarded to T.R. and supervised by C.S. and R.H. The studentship has been partially funded by Down Syndrome UK, a family-led organisation supporting families of children with Down syndrome. N.E. is the founder and chief executive of Down Syndrome UK. The remaining authors have no conflicts of interest to declare., (Copyright © 2023. Published by Elsevier Ltd.)

Genetic counseling (GC) following abnormal Down syndrome (DS) screening tests aims to ensure learning of complex medical concepts and discussion of counselees' personal desires. Pre-GC use of electronic learning tools (e-learning tools) can facilitate GC sessions by allowing more time for dialogue rather than learning medical and genetic concepts, enabling greater focus on the counselee's decisional, psychological, and personal needs. Few studies have investigated such tools for DS screening tests and those who have focused on screening uptake rather than abnormal results and implications. This study evaluated prenatal GC outcomes following implementation of an e-learning tool utilizing an educational animated movie for couples of varied ethnic backgrounds in northern Israel, with abnormal DS screening tests. E-learning tool impact was assessed as knowledge level, informed choices, satisfaction with the intervention and GC process, the state of anxiety and duration of the GC meeting. The 321 study participants were randomized to three groups: animation movie, booklet, and control. All participants had been asked to complete pre- and post-counseling questionnaires. Outcome scores were compared between the research groups. Results showed increased knowledge level in general among participants in the animation group; among minority participants, the highest knowledge level was in the animation group. Anxiety levels and informed choices were not statistically different among the groups. However, watching the animation, Jewish ethnicity, good level of genetic literacy, and academic degree were significant predictors of informed choice, and those who watched the animation were three times more likely to make an informed choice than the control group. Our findings suggest that this e-learning tool is efficient and acceptable for the general population. Special attention is needed for minorities with lower genetic literacy and education., (© 2023 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Background and Aim . Down syndrome (DS) is the most common reason for disabilities caused by genetic disorders. Due to the special nature of this disease and the special needs of children with Down syndrome, they are required to receive their families' support. Therefore, the recognition of their problems and needs and also the alternatives for resolving them and promoting their life quality are very useful. Also, since very limited qualitative studies have been conducted, it seems necessary to design a qualitative study. Method . This qualitative study was conducted by the content analysis method and through purposeful sampling method with the participation of 26 participants including 15 mothers, 6 fathers, 3 sisters, and 2 brothers of DS children in 2022-2023. The data were collected through semi-structured interviews. Findings . Using the content analysis method of Graneheim and Lundman (2004), the main theme was "Family self-supporting in protecting Down syndrome children." The subthemes were seven including "trying to find information-support resources," "Giving importance to child's health," "religious beliefs of the family," "child moral education, helping to child's relative self-support," "developing familial support," and "developing child's social interactions." Conclusion and Recommendations . The findings of this study showed that family is the main source of fulfilling the needs of children and their life challenges through using efficient self-support methods. This study introduced family self-support methods in terms of DS children in a way that other families can also manage the problems of their children more efficiently. The present study can be used by trustees of DS to support them and their families. Considering the existence of many problems in children with Down syndrome and the involvement of families, it is suggested that policymakers and community health managers provide the basis for receiving services and social support. For example, it is possible to strengthen the screening systems in the country to diagnose the disease on time and take quick action to solve this problem. Also, by increasing the health insurance coverage and fair distribution of the support resources needed by these people, it promoted the quality of life for them and their families. Also, health policymakers in Iran can take action to increase life expectancy and reduce deaths caused by DS by improving the equitable distribution of health resources and services. Also, public policies should enhance supportive intermediation for prevention and life quality promotion and also decrease health challenges. They are also supposed to lessen the costs of health care. Furthermore, to support social organizations, health service providers and researchers should consider the development of intermediations for the health enhancing and life quality promoting of DS children., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2024 Farzaneh Noroozi et al.)

Down syndrome (DS) is characterised by a duplication of chromosome-21 and is linked to co-occurring physical and mental health conditions, including low self-efficacy and disturbed mood states. The purpose of this study was to investigate the effects of an eight-week prescribed physical and/or cognitive training intervention on measures of mood disturbance, life satisfaction and self-efficacy in a population of adults with DS. Eighty-three participants (age 27.1 ± 8.0 years) from across five continents volunteered. Participants were assigned using matched groups based upon performance in a modified six-minute walk test to either an exercise (EXE) 3 × 30 min of walking/jogging per week, cognitive training (COG) 6 × 20 min per week, a combined group (COM) or the control (CON) who did not complete any intervention. Profile of Mood States (POMS) were assessed using a five-point scale across 65 categories pre- and post-study as well as upon completion of each week of the intervention. In addition, Satisfaction with Life Scale (SWLS) and self-efficacy using the Generalised Self-Efficacy scale (GSE) were recorded before and after the intervention. GSE increased for all participants by 1.9 ± 5.2 ( p = 0.002) from pre- to post-intervention, while POMS showed significant changes for the whole group from pre- to post-intervention for tension ( p < 0.001), depression ( p < 0.001) and for anger ( p < 0.001). In addition, significant correlations were observed between SWLS and ΔTMD, Δtension, Δanger, and Δfatigue ( p < 0.05) for EXE. Both COG and EXE provide a framework for empowering enhancements in life satisfaction, self-efficacy and mood states fostering improvements in quality of life.

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.

Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Objective: Adverse effects of sleep disruption are identified in parents who live with a child with Down Syndrome (DS), yet there is no research on siblings' experiences. This study addresses this knowledge gap., Design: A qualitative research study using semi-structured interviews to understand the experiences of siblings of a child with DS and sleep difficulties from the perspectives of parents and siblings., Participants: Eleven siblings aged 5-15 years old, and 11 parents, from 8 families with a child with DS in Australia., Methods: Semi-structured sibling interviews explored what it was like to have a sibling with DS and sleep difficulties; the participant's own sleep; how their sleep affected how they felt during the day; how sleep impacted their family; and advice that they would give to other siblings. Parent interviews included similar topics; here we report on excerpts in which parents reference siblings. Interviews were audio recorded, transcribed verbatim, and analyzed using a reflexive thematic analysis., Results: Siblings and parents acknowledge sleep disruption for siblings; yet sleep disruption is normalized, viewed with acceptance and inevitability. Siblings report adverse effects from sleep disruption, view sleep in a relational way, and cope with sleep disruption. Parents can underestimate siblings' sleep disruption and are uncertain whether siblings' symptoms result from sleep disruption or other causes., Conclusions: Siblings of a child with DS experience sleep disruption and may be at risk of developing long-term health problems without focused support., Competing Interests: Declaration of Competing Interest The authors have declared no conflicts of interest., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Spatial abilities are fundamental cognitive abilities, have direct applications in daily life, serve as a cognitive foundation for many other complex skills and are used in many specialty jobs. The current study aimed to systematically and comprehensively evaluate the spatial abilities of individuals with Down syndrome (DS) relative to mental ability-matched typically developing (TD) children based on Newcombe and Shipley's double-dimension theoretical framework for classifying spatial abilities., Methods: Forty adolescents and young adults with DS and 40 TD children completed a nonverbal intelligence test (Raven's), two measures of static-extrinsic skills (water-level task and cart task), two measures of static-intrinsic skills (figure ground and form completion), two measures of dynamic-extrinsic skills (three mountains task and dog task) and two measures of dynamic-intrinsic spatial skills (mental rotation task and block design task)., Results: Participants with DS showed reduced performance on two dynamic-intrinsic tasks and one static-extrinsic task (i.e. cart task) relative to TD children. Performances were similar in two dynamic-extrinsic tasks and two static-intrinsic tasks. Analyses of composite accuracy for each spatial category further confirmed deficits in dynamic-intrinsic and static-extrinsic categories for people with DS relative to TD children., Conclusions: Our results showed an uneven profile of spatial abilities in people with DS relative to ability-matched TD children with particular weaknesses in comprehending and manipulating dynamic-intrinsic and static-extrinsic spatial relations. Furthermore, our research has important clinical implications for more targeted interventions to improve spatial abilities in people with DS., (© 2023 John Wiley & Sons and MENCAP.)

Background: Pragmatics is an area that can be affected in a wide variety of disorders. In this sense, Syndromic Autism is defined as a disorder in which a causal link is established between an associated syndrome and Autism Spectrum Disorder (ASD). Likewise, Down Syndrome (DS) is one of the main genetically based syndromes in which ASD is described as one of its possible manifestations. In this direction, people with DS are described as social beings whereas in ASD there seems to be a specific alteration of this domain., Methods: In this study, pragmatic performance was analysed in a sample of 72 participants, where comparisons were made between the scores obtained by children with ASD (n = 24), with DS (n = 24) and with DS + ASD (n = 24)., Results: The Social Communication Questionnaire (SCQ), the Block Objective and Criterial Language Battery (BLOC-SR) and the Neuropsychology subtest (NEPSY-II) aimed at Theory of Mind (ToM) identified significant differences between the groups. However, two-to-two comparisons reported no significant differences between DS and DS + ASD., Conclusions: Although several studies report differences between the three proposed groups, our data seem to suggest that ASD symptomatology in DS is associated with Intellectual Developmental Disorder (IDD). However, the lack of solid scientific evidence regarding comorbid diagnosis makes further research along these lines indispensable., Trial Registration: This study was approved by the Ethics Committee for Social Research at UCLM with reference CEIS-704,511-L8M4., (© 2024. The Author(s).)

Background: Down syndrome is a genetic disorder that causes physical and cognitive challenges. Identifying the impact of sedentary behavior and physical activity on people with Down syndrome is crucial for early intervention. The purpose of this study is to compare physical activity and sedentary behavior among children with Down syndrome and typically developing children, as well as assess their relationship with quality of life., Methods: In the cross-sectional study, 67 children between the ages of 6 and 12 were enrolled: 29 in the Down syndrome group and 38 in the typically developing group. Each child wore an ActiGraph wGT3X-BT for seven days. Accelerometer data and quality of life data were analysed., Results: Physical activity and sedentary behavior were not significantly different between the Down syndrome and typically developing groups (p ˃ .05). With large effect sizes (partial eta squares ranging from 0.21 to 0.59), typically developing children had a significantly better quality of life than children with Down syndrome. There was a weak positive correlation between moderate physical activity and school performance in children with Down syndrome. For typically developing children, there is a weak negative correlation between light physical activity and physical function, school function, and total paediatric quality of life scale scores., Conclusions: This study indicates that children with Down syndrome have participated in more physical activities, resulting in a reduction in differences between them and typically developing children. Additionally, typically developing had higher quality of life than children with Down syndrome. For healthcare professionals and educators, these findings provide valuable insights into developing strategies to enhance physical activity for children with developmental disabilities., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Alqahtani et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Background: Despite the significant advancements in medical and educational fields, children with Down syndrome and their parents still encounter numerous challenges in Developing countries like Pakistan, particularly in the Khyber Pakhtunkhwa area. This study hypothesized that prolific intervention programs instituted to support parents in dealing with these challenges will experience a reduction in parental stress levels., Methods: Cross-sectional descriptive research was carried out using a Purposive sample approach between 15th June 2020 and 05th January 2023 to evaluate the impact of several intervention programs for parents at different special education centers in Mardan, Charsada, Naushera, Swabi, and Peshawar. The research included 105 parents who were approached through these intervention programs and the success of these programs were evaluated across five dimensions: Social, psychological, cognitive, religious, and educational aspects. The interview-based parenting Intervention Questionnaire (IBPIQ) was used to gather information concerning the efficacy of these interventions, and the parental stress scale was administered to measure parental stress., Results: The results of the study showed that there is no significant correlation between Parental intervention programs and reduced levels of parental stress. While a weak positive correlation (social impact: 0.212) was found whereas psychological p-values = 0.065, educational p-values = -0.058, cognitive p-values = -0.067, and religious impact p-values =0.101 were non-significant., Conclusions: After an extensive review of various intervention programs for parents of children with Down syndrome in Pakistan, this study concluded that these Intervention programs did not significantly benefit the parents. As a result, stress levels among Down syndrome's parents did not lessen, regardless of their involvement in these interventions.

Background: Apathy is a state of decreased interest, lack of initiative, reduced goal-directed activity and blunted emotional responses. Apathy is one of the most common neuropsychiatric symptoms (NPS) in patients with Alzheimer's disease (AD) and is also relatively omnipresent in individuals with Down syndrome (DS). Little is known about the apathy-like behaviors in rodent models of AD and DS., Objective: This study aimed to characterize apathy-like behaviors with aging in two established DS mouse models: Ts65Dn and Dp16., Methods: A battery of behavioral tests including nestlet shredding, marble burying, nest building, and burrowing were performed to examine apathy-like behaviors. Individual z-scores for each mouse for each test, and a composite z-score of apathy-like behavior were analyzed for all mice from these behavioral tests., Results: Analysis of individual test results and composite z-score revealed significant apathy-like behaviors in Ts65Dn mice compared to WT controls. In contrast, Dp16 mice did not exhibit significant apathy-like behaviors., Conclusions: Our study is the first to characterize apathy-like behaviors in mouse models of DS with aging and highlights the difference between Ts65Dn and Dp16 DS model mice regarding apathy-like manifestations with aging.

Introduction: Narratives are enriched by taking the perspective of the protagonists, which can be expressed using reported speech. Nevertheless, the use of reported speech is unaddressed internationally among individuals with Down syndrome., Method: Narratives of 28 children and adolescents with Down syndrome were collected using a non-verbal picture book. Occurrence and forms of reported speech were analysed and compared to typically-developing children (TD; n = 33)., Results: Participants from both populations use reported speech in their narratives with a comparable proportion. Nevertheless, differences appear concerning forms of direct speech with persons with Down syndrome using more free direct speech than TD-children., Discussion: The results suggest that children and adolescents are able to implement the use of reported speech regardless of their syntactic impairments. Concerning the occurring forms of direct speech, the results might point to cognitive impairments that manifest in limited consideration of the interlocutor's knowledge., (© 2023 The Authors. Journal of Applied Research in Intellectual Disabilities published by John Wiley & Sons Ltd.)

This study explores sex-differences in (a) rates and profiles of autism symptoms as well as in (b) the contribution of intellectual quotient (IQ) to autism symptom presentation in Down syndrome (DS). Participants were 40 males and 38 females with DS, aged 6 to 23 years. Autism symptoms were rated through the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Results show no sex differences in the ADOS-2 Calibrated Severity Scores (CSS). However, only females with DS who are classified as DS-Only have higher scores on verbal IQ than those classified as DS + autism. Furthermore, associations between IQ and all CSSs are found for females, but not for males. Findings suggest that verbal cognition may play differential roles for females and males with DS., (© 2022. The Author(s).)