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1.
PLoS One ; 19(2): e0297111, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38346033

RESUMO

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.


Assuntos
Síndrome de Down , Qualidade de Vida , Humanos , Criança , Estudos Transversais , Síndrome de Down/psicologia , Arábia Saudita/epidemiologia , Exercício Físico/psicologia
2.
BMC Psychol ; 12(1): 74, 2024 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-38360760

RESUMO

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.


Assuntos
Transtorno do Espectro Autista , Síndrome de Down , Criança , Humanos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/psicologia , Síndrome de Down/diagnóstico , Síndrome de Down/complicações , Síndrome de Down/psicologia , Idioma , Comunicação , Testes Neuropsicológicos
3.
J Intellect Disabil Res ; 68(3): 223-236, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38072820

RESUMO

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.


Assuntos
Síndrome de Down , Navegação Espacial , Adolescente , Criança , Humanos , Adulto Jovem , Aptidão , Cognição , Síndrome de Down/psicologia
4.
J Appl Res Intellect Disabil ; 37(1): e13163, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37840395

RESUMO

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.


Assuntos
Disfunção Cognitiva , Síndrome de Down , Deficiência Intelectual , Adolescente , Humanos , Fala , Síndrome de Down/psicologia , Narração
5.
J Alzheimers Dis ; 95(1): 213-225, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37482997

RESUMO

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


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Síndrome de Down , Deficiência Intelectual , Humanos , Doença de Alzheimer/complicações , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/psicologia , Síndrome de Down/complicações , Síndrome de Down/diagnóstico por imagem , Síndrome de Down/psicologia , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/psicologia , Disfunção Cognitiva/psicologia , Biomarcadores , Peptídeos beta-Amiloides , Proteínas tau , Tomografia por Emissão de Pósitrons
6.
Am J Med Genet A ; 191(8): 2045-2056, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37264986

RESUMO

Down syndrome (DS) has a unique medical and psychological profile. To date, few studies have asked individuals with DS about their views of health, and fewer have explored the impact of COVID-19 on the health of individuals with DS and their families. We used a mixed methods approach including two studies on the health of individuals with DS and their parents conducted during the COVID-19 pandemic: (1) eight virtual focus groups, comprised of 20 parents and 8 individuals with DS to obtain participants' views of health, and (2) a 20-item questionnaire on health care experience of patients with DS who are African American or come from primarily Spanish-speaking homes. Focus group transcripts were coded using a hybrid inductive/deductive framework and thematically analyzed using the Framework Method. This questionnaire included questions regarding the impact of COVID-19 on caregivers and their loved ones with DS; responses to these questions were summarized using descriptive statistics. Individuals with DS discussed the impact of the COVID-19 pandemic on their physical and social health including masking, online learning, and online communication with friends and family. Parents of individuals with DS discussed how the COVID-19 pandemic negatively impacted their child's physical, social, and mental health, as a result of virtual schooling and decreased socialization. There were unexpected positives of the pandemic such as improved hygiene and eased scheduling with telehealth visits. Caregivers noted COVID-19 impacted their own anxiety, employment, and other domains that have potential ripple effects on the health of their children. The COVID-19 pandemic had a pervasive impact on the mental health and wellness of caregivers as well as the physical, social, and mental health of individuals with DS.


Assuntos
COVID-19 , Síndrome de Down , Criança , Humanos , COVID-19/epidemiologia , Pandemias , Síndrome de Down/epidemiologia , Síndrome de Down/psicologia , Pais/psicologia , Saúde Mental
7.
Sci Rep ; 13(1): 8177, 2023 05 20.
Artigo em Inglês | MEDLINE | ID: mdl-37210403

RESUMO

Individuals with neurodevelopmental conditions (NDCs) have been reported to experience increased levels of anxiety during the COVID-19 pandemic. In our study, we document how individuals with Down Syndrome (DS; N = 557; Mage = 16.52; 233 female) and Williams syndrome (WS, N = 247; Mage = 18.43; 113 female) experienced the first wave (April 2020-May 2020) of the COVID-19 pandemic across the world. Using multilevel linear mixed regressions, we studied (a) parental reported anxiety of individuals with DS and WS, (b) these individuals' specific concerns, and (c) their use and efficacy of emotion regulation (ER) strategies during the first wave of COVID-19. Predictors of anxiety, such as the age of the individual with NDC, type of condition, and time, were investigated. Individuals with WS experienced higher levels of anxiety compared to those with DS and the older the individuals with NDC were the more anxiety they experienced. In terms of concerns, group effects indicated that individuals with WS scored higher for most of the concerns. There were no gender differences in concerns, yet most of the concerns increased with age except for concerns about loss of routine, boredom, loss of institutional support and family conflict. Finally, significant group effects were found and indicated a more frequent use of a variety of adaptive and maladaptive ER strategies in individuals with WS. We did not identify group differences in the efficacy of ER strategies. Our results indicate that individuals with WS are likely to exhibit higher levels of anxiety, but also higher levels of concerns depending on their age. Similarly, individuals with WS use a variety of ER strategies more frequently but these strategies are not necessarily more efficient for them. We discuss the impact of these findings in relation to anxiety identification and support across individuals with NDCs.


Assuntos
COVID-19 , Síndrome de Down , Regulação Emocional , Síndrome de Williams , Humanos , Feminino , Síndrome de Down/complicações , Síndrome de Down/psicologia , Pandemias , COVID-19/epidemiologia , Ansiedade/epidemiologia
8.
J Intellect Disabil Res ; 67(8): 734-745, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37221155

RESUMO

BACKGROUND: Accurate measurement of cognitive skills is necessary to advance both developmental and intervention science for individuals with Down syndrome (DS). This study evaluated the feasibility, developmental sensitivity and preliminary reliability of a reverse categorisation measure designed to assess cognitive flexibility in young children with DS. METHODS: Seventy-two children with DS ages 2.5-8 years completed an adapted version of a reverse categorisation task. Twenty-eight of the participants were assessed again 2 weeks later for retest reliability. RESULTS: This adapted measure demonstrated adequate feasibility and developmental sensitivity, and preliminary evidence for test-retest reliability when administered to children with DS in this age range. CONCLUSIONS: This adapted reverse categorisation measure may be useful for future developmental and treatment studies that target early foundations of cognitive flexibility in young children with DS. Additional recommendations for use of this measure are discussed.


Assuntos
Síndrome de Down , Humanos , Criança , Pré-Escolar , Síndrome de Down/psicologia , Reprodutibilidade dos Testes , Cognição
9.
J Intellect Disabil Res ; 67(8): 753-769, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37218393

RESUMO

BACKGROUND: Inhibitory control measures have been commonly used when assessing individuals with Down syndrome. However, minimal attention has been devoted to evaluating the appropriateness of specific assessments for use in this population, potentially leading to erroneous conclusions. This study aimed to examine the psychometric properties of measures of inhibitory control among youth with Down syndrome. We sought to examine the feasibility, presence of floor or practice effects, test-retest reliability, convergent validity and correlations with broader developmental domains of a set of inhibitory control tasks. METHODS: A sample of 97 youth with Down syndrome aged 6 to 17 years old participated in verbal and visuospatial tasks of inhibitory control including the Cat/dog Stroop, Neuropsychological Assessment Second Edition (NEPSY-II) Statue, National Institutes of Health (NIH) Toolbox Cognition Battery (TCB) Flanker, Leiter-3 Attention Sustained, and the Test of Attentional Performance for Children (KiTAP) Go/No-go and Distractibility subtests. Youth also completed standardised assessments of cognition and language, and caregivers completed rating scales. Psychometric properties on the tasks of inhibitory control were evaluated against a priori criteria. RESULTS: Apart from demonstrating negligible practice effects, adequate psychometric properties were not observed for any inhibitory control measure within the current sample's age range. One task with low working memory demands (NEPSY-II Statue) generally had better psychometric properties than the other tasks assessed. Subgroups of participants with an IQ greater than 30 and age more than 8 years were shown to be more likely to be able to complete the inhibition tasks. CONCLUSIONS: Findings suggest better feasibility for analogue tasks rather than computerised assessments of inhibitory control. Given the weak psychometrics of several common measures, future studies are required to evaluate other inhibitory control measures, specifically those with reduced working memory demands for youth with Down syndrome. Recommendations for use of the inhibitory control tasks among youth with Down syndrome are provided.


Assuntos
Síndrome de Down , Humanos , Adolescente , Animais , Cães , Psicometria , Síndrome de Down/psicologia , Reprodutibilidade dos Testes , Testes Neuropsicológicos , Cognição/fisiologia
10.
Actas esp. psiquiatr ; 51(2): 56-64, Marzo - Abril 2023. tab
Artigo em Espanhol | IBECS | ID: ibc-220874

RESUMO

Antecedentes. El confinamiento durante la primera oleada de COVID-19 en España se ha relacionado con niveles mayores de ansiedad en la población general. Sin embargo, no se ha estudiado el impacto emocional en los cuidadores de personas con trastornos del neurodesarrollo (TND).Método. Se distribuyó un cuestionario a las organizaciones que prestan apoyo a las personas con TND y sus familias. Se analizaron los datos de los cuidadores de personas con trastorno del espectro autista (TEA) (N=17), síndrome de Down (N=25) y síndrome de Williams (N=18).Resultados. Los cuidadores informaron de preocupaciones relacionadas con la situación de pandemia y confinamiento. Los cuidadores de personas con TEA mostraron mayor preocupación sobre los conflictos familiares. Los tres grupos informaron de niveles de ansiedad más altos durante el confinamiento. Predijeron la ansiedad el trastorno de ansiedad previo y el diagnóstico del hijo/a. Conclusiones. Los predictores de ansiedad en los cuidadores de individuos con TND difieren de los reportados previamente en la población general española. Los resultados sugieren que el confinamiento fue especialmente duro paralas familias de personas con TEA. Las políticas públicas deberían considerar las necesidades de las personas con TND y sus cuidadores para minimizar las consecuencias negativas de la pandemia. (AU)


Background. The lockdown during the first wave of COVID-19 in Spain has been related to higher levels of anxietyin the general population. However, the emotional impact on Spanish caregivers of individuals with neurodevelopmental disorders (NDD) has not been studied so far. Methods. An online questionnaire was distributed to Spanish organisations providing support to individuals with NDD and their families. Data from caregivers of individuals with autism spectrum disorder (ASD) (N = 17), Down syndrome (DS)(N = 25) and Williams syndrome (WS) (N = 18) were analysed. Results. All caregivers reported concerns directly related to the pandemic and lockdown situation. Caregivers of individuals with ASD showed higher level of concern about the possibility of family conflict. All three groups reported higher levels of anxiety during the lockdown. Anxiety was predicted by previous anxiety disorder and the child’s diagnosis. Conclusions. Predictors of anxiety in caregivers of individuals with NDD differ from those previously reported in the general Spanish population. The results suggest that confinement in Spain was especially demanding for families of individuals with ASD. Public policies should consider the particular needs of people with NND and their caregivers to minimise the negative consequences of the ongoing pandemic.(AU)


Assuntos
Humanos , Cuidadores/psicologia , Ansiedade/psicologia , Percepção , Infecções por Coronavirus/epidemiologia , Transtorno do Espectro Autista/psicologia , Síndrome de Down/psicologia , Síndrome de Williams/psicologia , Inquéritos e Questionários , Espanha , Pandemias
11.
Artigo em Inglês | MEDLINE | ID: mdl-36982110

RESUMO

Reliable and valid cognitive outcome measures, including examiner-administered and computer-facilitated assessments of processing speed and reaction time, are necessary for future clinical trials that include individuals with Down syndrome (DS). The current study evaluated the score distributions and psychometric properties of four examiner-administered and three computerized processing speed and reaction time measures. Participants included 97 individuals with DS, aged 6 to 17 (M = 12.6, SD = 3.3). Two examiner-administered measures (Differential Ability Scales-II Rapid Naming and Cat/dog Stroop Congruent) met most predetermined psychometric criteria. Other assessments demonstrated good test-retest reliability and had negligible practice effects but lacked adequate feasibility. Recommendations for using processing speed and reaction time assessments in research and suggestions for modifications of measures are discussed.


Assuntos
Síndrome de Down , Cognição , Síndrome de Down/psicologia , Testes Neuropsicológicos , Avaliação de Resultados em Cuidados de Saúde , Velocidade de Processamento , Tempo de Reação , Reprodutibilidade dos Testes , Humanos , Criança , Adolescente
12.
Front Cell Infect Microbiol ; 13: 1109889, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36844413

RESUMO

Introduction: Down syndrome (DS), the presence of a supernumerary chromosome 21, is associated with cognitive dysfunction caused by early neurodegenerative processes. Alterations in the gut microbiota were observed in Chinese children with DS, and the genus Blautia was associated with cognitive function in these children. Therefore, it is crucial to understand the detailed composition of this group at the species level and to explore the effect of specific species on cognitive function. Methods: In this study, Blautia-specific amplicon sequencing was conducted to identify the specific Blautia species in 15 children with DS and 15 matched healthy children. Results: The taxonomic analyses suggested that the Blautia taxa were clustered by disease status. The diversity of Blautia at the species level differed between DS patients and healthy controls, with the abundances of Blautia massiliensis and Blautia argi decreasing in DS children, while Blautia faecis was increased. Acetic acid, one of the metabolites of Blautia, was significantly reduced in the DS group. Of particular interest, Kyoto Encyclopaedia of Genes and Genomes analysis revealed decreased modules related to starch and sucrose metabolism and glycolysis. In addition, B. argi was positively related to DS cognitive scores, and B. faecis was negatively related to cognitive function, implying its role on the DS cognitive impairments. Discussion: Our study has important implications for understanding the important effects of specific species of Blautia on cognitive function and thus possibly provides a new strategy for future studies of cognitive improvement in individuals with DS.


Assuntos
Clostridiales , Disfunção Cognitiva , Síndrome de Down , Microbioma Gastrointestinal , Criança , Humanos , Cognição , Síndrome de Down/microbiologia , Síndrome de Down/psicologia , População do Leste Asiático , Clostridiales/classificação
13.
J Appl Res Intellect Disabil ; 36(2): 354-365, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36624557

RESUMO

BACKGROUND: Down syndrome has a unique medical and psychological profile. To date, few studies have asked individuals with Down syndrome about their views of health. METHODS: Eight focus groups of 20 parents and 8 individuals with Down syndrome, were conducted virtually via videoconferencing to obtain participants' views of health indicators. Focus group moderators employed some modifications for individuals with Down syndrome, including simplified language and use of graphics. Transcripts were coded using a hybrid inductive/deductive framework and thematically analysed using the Framework Method. RESULTS: We describe lessons learned in conducting virtual focus groups of individuals with Down syndrome and their parents. Individuals with Down syndrome could describe their views of health indicators and identified many of the same topics as their parents. Both groups discussed physical, mental, and social health components. However, people with Down syndrome gave a more restricted range of examples, but with different nuances than parents. CONCLUSION: Partcipants discussed physical, social, and mental well-being components of health in Down syndrome. Interviewing individuals with Down syndrome in virtual focus groups with appropriate modifications added important self-report health information.


Assuntos
Síndrome de Down , Deficiência Intelectual , Humanos , Grupos Focais , Síndrome de Down/psicologia , Pais/psicologia
14.
Res Dev Disabil ; 133: 104416, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36603310

RESUMO

BACKGROUND: Cognitive flexibility refers to the ability to switch between different mental sets, tasks, or strategies and is challenging for some individuals with Down syndrome (DS). The lack of reliable and valid cognitive flexibility measures for individuals with DS is a major barrier to clinical trials and intervention studies designed to address cognitive challenges specific to DS. To avoid measurement limitations that could confound interpretations of performance in clinical trials in children with DS, it is critical to use phenotype-sensitive and psychometrically sound measures of cognitive flexibility. AIM: This study aimed to evaluate the psychometric properties of three measures of cognitive flexibility including Rule-Shift, Weigl Sorting, and KiTAP Flexibility in a sample of 97 youth with DS aged 6-17 years old. METHOD: Data were collected at two time points with a two-week interval. Parents also completed adaptive behavior and cognitive flexibility questionnaires. Child cognitive and language abilities were also assessed. RESULTS: The Weigl Sorting met the most psychometric criteria, with adequate feasibility (≥ 80 %) and significant correlations with most of the broader developmental domains; however, the levels of test-retest reliability, practice effects, and convergent validity did not meet a priori criteria. Rule-Shift and KiTAP Flexibility measures did not have acceptable feasibility; although sensitivity and specificity analyses revealed that Rule-Shift may be appropriate for a subgroup of the participants. CONCLUSION: No evaluated measures met all psychometric study criteria and, therefore, additional evaluation of cognitive flexibility measures is needed for use among individuals with DS.


Assuntos
Síndrome de Down , Humanos , Adolescente , Síndrome de Down/psicologia , Reprodutibilidade dos Testes , Cognição , Inquéritos e Questionários , Psicometria
15.
J Intellect Disabil Res ; 67(4): 323-351, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36650105

RESUMO

BACKGROUND: Down syndrome (DS) has a unique medical and psychological profile that could impact how health is defined on three dimensions: physical, social and mental well-being. METHODS: In 2021, we presented our proposed conceptual model to three expert panels, four focus groups of parents of individuals with DS age 0-21 years and four focus groups of individuals with DS age 13-21 years through videoconferencing technology. Participants gave feedback and discussed the concept of health in DS. RESULTS: Feedback from participants resulted in iterative refinement of our model, retaining the three dimensions of health, and modifying constructs within those dimensions. Experts and parents agreed that individuals with DS have unique health concerns that necessitate the creation and validation of a syndrome-specific health model. We present key themes that we identified and a final conceptual model of health for individuals with DS. CONCLUSION: Health in DS is a multi-dimensional, multi-construct model focused on relevant constructs of causal and effect indicators. This conceptual model can be used in future research to develop a syndrome-specific measure of health status.


Assuntos
Síndrome de Down , Humanos , Recém-Nascido , Lactente , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Síndrome de Down/psicologia , Pais , Grupos Focais
16.
J Neurosci Res ; 101(4): 492-507, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36602162

RESUMO

Several non-verbal cognitive and behavioral tests have been developed to assess learning deficits in humans with Down syndrome (DS). Here we used rodent touchscreen paradigms in adult male mice to investigate visual discrimination (VD) learning and inhibitory control in the Dp(16)1/Yey (C57BL/6J genetic background), Ts65Dn (mixed B6 X C3H genetic background) and Ts1Cje (C57BL/6J genetic background) mouse models of DS. Dp(16)1/Yey and Ts1Cje models did not exhibit motivation or learning deficits during early pre-training, however, Ts1Cje mice showed a significant learning delay after the introduction of the incorrect stimulus (late pre-training), suggesting prefrontal cortex defects in this model. Dp(16)1/Yey and Ts1Cje mice display learning deficits in VD but these deficits were more pronounced in the Dp(16)1/Yey model. Both models also exhibited compulsive behavior and abnormal cortical inhibitory control during Extinction compared to WT littermates. Finally, Ts65Dn mice outperformed WT littermates in pre-training stages by initiating a significantly higher number of trials due to their hyperactive behavior. Both Ts65Dn and WT littermates showed poor performance during late pre-training and were not tested in VD. These studies demonstrate significant learning deficits and compulsive behavior in the Ts1Cje and Dp(16)1/Yey mouse models of DS. They also demonstrate that the mouse genetic background (C57BL/6J vs. mixed B6 X C3H) and the absence of hyperactive behavior are key determinants of successful learning in touchscreen behavioral testing. These data will be used to select the mouse model that best mimics cognitive deficits in humans with DS and evaluate the effects of future therapeutic interventions.


Assuntos
Síndrome de Down , Humanos , Masculino , Camundongos , Animais , Síndrome de Down/genética , Síndrome de Down/tratamento farmacológico , Síndrome de Down/psicologia , Projetos Piloto , Fenótipo , Camundongos Endogâmicos C57BL , Camundongos Endogâmicos C3H , Modelos Animais de Doenças
17.
Res Dev Disabil ; 134: 104421, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36638671

RESUMO

BACKGROUND: Atypical sensory processing impacts children with intellectual and developmental disabilities (IDD). Research has focused on SP in individuals with autism spectrum disorder (ASD); comparatively, little has been written regarding individuals with Down syndrome (DS) and IDDs. AIMS: We compared patterns of sensory processing in children with DS to children with ASD, other IDDs, and typically developing (TD) peers examining the relationship among different sensory processing measures. METHODS AND PROCEDURES: We analyzed cross-sectional data using two caregiver questionnaires (SP, SEQ) and one observational measure (SPA). Groups were compared on three sensory processing patterns: hyporesponsiveness; hyperresponsiveness; and sensory interests, repetitions, and seeking (SIRS) via ANOVA. We assessed concordance through correlations. OUTCOMES AND RESULTS: Children with DS, IDD, and ASD demonstrated more atypical sensory processing behaviors than TD peers. Children with ASD exhibited the most atypical responses across all measures, significantly more than DS children on all but one subscale. The IDD and DS groups differed on several measures. Measurement concordance was higher between caregiver-report versus observational assessment. CONCLUSIONS AND IMPLICATIONS: Differences between three clinical groups indicate that sensory processing features may differ across clinical populations regardless of cognitive functioning. Lower concordance between caregiver-report and observation measures highlights the need to understand sensory processing expression across different tasks and environments.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Síndrome de Down , Criança , Humanos , Transtorno do Espectro Autista/psicologia , Estudos Transversais , Deficiências do Desenvolvimento/psicologia , Síndrome de Down/psicologia , Percepção
18.
Health Commun ; 38(7): 1349-1358, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-34894913

RESUMO

Studies have shown that healthcare professionals (HP) play a significant role in parents' experience when informed of the birth of a child with Down Syndrome (DS). Past studies have focused on faith dilemmas of religious mothers that were informed that their child was born with DS and on understanding how faith was a source of emotional support for them. Studies that focus on religious activist mothers are scarce. We utilized a qualitative methodology to explore the experiences of Jewish mothers who are religious and activists. Semistructured interviews and focus groups were conducted with 17 religious Jewish mothers of children with DS, who participated in an activist, self-support group. The data were analyzed using interpretative phenomenological analysis (IPA). Most mothers felt unsupported by the HP although a few mentioned being congratulated on the birth and empowered by a physician who focused on their child's potential to develop. The mothers appreciated when HPs considered their opinions and values. They shared the common goal of changing the existing pathological, statistics-based discourse concerning children with DS. The study reinforces the important role of HP and policymakers' in collaborating with parents and their support groups early in the diagnostic stage.


Assuntos
Síndrome de Down , Mães , Criança , Feminino , Recém-Nascido , Humanos , Mães/psicologia , Síndrome de Down/diagnóstico , Síndrome de Down/psicologia , Israel , Pais/psicologia , Adaptação Psicológica
19.
Am J Med Genet A ; 191(3): 690-698, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36437642

RESUMO

Studies in the neurotypical population have demonstrated that personal social networks can mitigate cognitive decline and the development of Alzheimer disease. To assess whether these benefits can also be extended to people with Down syndrome (DS), we studied whether and how personal networks can be measured in this population. We adapted a personal networks instrument previously created, validated, and implemented for the neurotypical population. We created two versions of the survey: one for participants with DS, ages 25 and older, and another for their study partners, who spent a minimum of 10 h/wk in a caregiver role. Participants with DS gave concordant data to those of study partners. Their personal networks included a median network size of 7.50, density 0.80, constraint 46.00, and effective size 3.07. Personal networks were composed of 50% kin, 80% who live within 15 miles, and 80% who eat a healthy diet. In this proof-of-principle study, we demonstrated that the personal networks of people with DS can be quantitatively analyzed, with no statistical difference between self-report and parent-proxy report. Future research efforts can now evaluate interventions to enhance personal networks for preventing Alzheimer disease in this population.


Assuntos
Doença de Alzheimer , Disfunção Cognitiva , Síndrome de Down , Humanos , Adulto , Síndrome de Down/epidemiologia , Síndrome de Down/psicologia , Doença de Alzheimer/epidemiologia , Cuidadores , Rede Social
20.
Dev Neurorehabil ; 26(1): 1-9, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36380608

RESUMO

PURPOSE: Due to the difficulties in differentiating between impairments associated with intellectual disability and ASD symptomology, DS often leads to delayed or misdiagnoses of ASD. METHOD: An ANOVA was run to investigate the effects of ASD risk and DS on overall developmental functioning across three groups: ASD+, DS-, and DS+ (n = 138). A MANOVA was run to investigate the differences of group on five developmental subdomains. RESULTS: The results revealed significant group differences in the overall developmental functioning and each developmental subdomain. Children in the DS+ group demonstrated significantly lower overall developmental functioning, as well as lower adaptive, cognitive, motor, and communication skills compared to their peers; however, children in the DS- group demonstrated significantly better social skills compared to their peers in the ASD+ group. DISCUSSION: These findings support the need for early screening and identification of ASD among those with DS.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Síndrome de Down , Deficiência Intelectual , Humanos , Pré-Escolar , Síndrome de Down/complicações , Síndrome de Down/psicologia , Transtorno Autístico/complicações , Transtorno do Espectro Autista/psicologia , Deficiência Intelectual/complicações , Habilidades Sociais
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