Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.946
Filtrar
1.
PLoS One ; 15(7): e0236087, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32697810

RESUMO

INTRODUCTION: The Emotional Quotient Inventory: Youth version-EQ-i:YV was developed by Bar-On & Parker in 2000 and later translated and adapted for the general Spanish adolescent population by Ferrandiz et al. in 2012. The Spanish scale presents similar psychometric properties to the original version (54 items and five subdimensions). The Emotional Quotient Inventory assesses a set of personal, emotional, and social skills that influence adaptation to and coping with environmental demands and pressures. These factors can influence an adolescent's success later in life, health, and psychological well-being. Traditionally, research in Down syndrome (DS) has focused on identifying cognitive deficits, relatively little is known about emotional intelligence (EI) and there are no scales that measure EI in people with DS adults. OBJECTIVES: To validate and analyze the psychometric properties of the scale in the clinical population, specifically in Spanish adults with DS (EQ-i: SVDS). METHODS: A cross-sectional investigation was carried out in several stages. Descriptive, exploratory factorial (n = 345), confirmatory (n = 397), and scale reliability analyses were performed with better goodness-of-adjustment indices. RESULTS: A new scale named Emotional Quotient Inventory: Short Version for DS adults was obtained with a structure of four factors called mood, stress management, interpersonal, and intrapersonal. This new scale was reduced to 25 items. Goodness-of-fit indices were excellent (RMSEA [95% CI] = 02[.01; .03]; CFI = .99; TLI = .98; GFI = .87; AGFI = .89). The internal consistency of the four dimensions and the calculated total score (α = .91, ω = .93 and divided halves = .90) yielded high values in this clinical sample. DISCUSSION: The results recommend the use of the revised EQ-i: YV, the EQ-i: SVDS, to assess EI in adults with DS. The psychometric properties of this study are satisfactory but have four factors. The findings are discussed in terms of future research and practical implication to gain a more thorough understanding of how this population behaves on both a general and preventive level in order to teach EI properly. CONCLUSIONS: This new version is a valid and reliable tool to evaluate emotional intelligence in people with intellectual disabilities and specifically in Spanish adults with DS.


Assuntos
Adaptação Psicológica , Síndrome de Down/psicologia , Inteligência Emocional/fisiologia , Psicometria/métodos , Adulto , Estudos Transversais , Síndrome de Down/epidemiologia , Análise Fatorial , Feminino , Humanos , Masculino , Espanha/epidemiologia , Inquéritos e Questionários , Adulto Jovem
2.
Lancet ; 395(10242): 1988-1997, 2020 06 27.
Artigo em Inglês | MEDLINE | ID: mdl-32593336

RESUMO

BACKGROUND: Alzheimer's disease and its complications are the leading cause of death in adults with Down syndrome. Studies have assessed Alzheimer's disease in individuals with Down syndrome, but the natural history of biomarker changes in Down syndrome has not been established. We characterised the order and timing of changes in biomarkers of Alzheimer's disease in a population of adults with Down syndrome. METHODS: We did a dual-centre cross-sectional study of adults with Down syndrome recruited through a population-based health plan in Barcelona (Spain) and through services for people with intellectual disabilities in Cambridge (UK). Cognitive impairment in participants with Down syndrome was classified with the Cambridge Cognitive Examination for Older Adults with Down Syndrome (CAMCOG-DS). Only participants with mild or moderate disability were included who had at least one of the following Alzheimer's disease measures: apolipoprotein E allele carrier status; plasma concentrations of amyloid ß peptides 1-42 and 1-40 and their ratio (Aß1-42/1-40), total tau protein, and neurofilament light chain (NFL); tau phosphorylated at threonine 181 (p-tau), and NFL in cerebrospinal fluid (CSF); and one or more of PET with 18F-fluorodeoxyglucose, PET with amyloid tracers, and MRI. Cognitively healthy euploid controls aged up to 75 years who had no biomarker abnormalities were recruited from the Sant Pau Initiative on Neurodegeneration. We used a first-order locally estimated scatterplot smoothing curve to determine the order and age at onset of the biomarker changes, and the lowest ages at the divergence with 95% CIs are also reported where appropriate. FINDINGS: Between Feb 1, 2013, and June 28, 2019 (Barcelona), and between June 1, 2009, and Dec 31, 2014 (Cambridge), we included 388 participants with Down syndrome (257 [66%] asymptomatic, 48 [12%] with prodromal Alzheimer's disease, and 83 [21%] with Alzheimer's disease dementia) and 242 euploid controls. CSF Aß1-42/1-40 and plasma NFL values changed in individuals with Down syndrome as early as the third decade of life, and amyloid PET uptake changed in the fourth decade. 18F-fluorodeoxyglucose PET and CSF p-tau changes occurred later in the fourth decade of life, followed by hippocampal atrophy and changes in cognition in the fifth decade of life. Prodromal Alzheimer's disease was diagnosed at a median age of 50·2 years (IQR 47·5-54·1), and Alzheimer's disease dementia at 53·7 years (49·5-57·2). Symptomatic Alzheimer's disease prevalence increased with age in individuals with Down syndrome, reaching 90-100% in the seventh decade of life. INTERPRETATION: Alzheimer's disease in individuals with Down syndrome has a long preclinical phase in which biomarkers follow a predictable order of changes over more than two decades. The similarities with sporadic and autosomal dominant Alzheimer's disease and the prevalence of Down syndrome make this population a suitable target for Alzheimer's disease preventive treatments. FUNDING: Instituto de Salud Carlos III, Fundació Bancaria La Caixa, Fundació La Marató de TV3, Medical Research Council, and National Institutes of Health.


Assuntos
Doença de Alzheimer/metabolismo , Biomarcadores/sangue , Síndrome de Down/complicações , Adulto , Doença de Alzheimer/líquido cefalorraquidiano , Doença de Alzheimer/diagnóstico por imagem , Doença de Alzheimer/epidemiologia , Peptídeos beta-Amiloides/metabolismo , Amiloidose/diagnóstico por imagem , Amiloidose/patologia , Apolipoproteínas E/metabolismo , Estudos de Casos e Controles , Disfunção Cognitiva/psicologia , Estudos Transversais , Síndrome de Down/epidemiologia , Síndrome de Down/mortalidade , Síndrome de Down/psicologia , Fluordesoxiglucose F18/administração & dosagem , Humanos , Imagem por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Proteínas de Neurofilamentos/líquido cefalorraquidiano , Tomografia por Emissão de Pósitrons/métodos , Prevalência , Espanha/epidemiologia , Reino Unido/epidemiologia , Proteínas tau/metabolismo
4.
Pediatrics ; 145(6)2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32471843

RESUMO

Down syndrome disintegrative disorder (DSDD), a developmental regression in children with Down syndrome (DS), is a clinical entity that is characterized by a loss of previously acquired adaptive, cognitive, and social functioning in persons with DS usually in adolescence to early adulthood. Initially reported in 1946 as "catatonic psychosis," there has been an increasing interest among the DS community, primary care, and subspecialty providers in this clinical area over the past decade. This condition has a subacute onset and can include symptoms of mood lability, decreased participation in activities of daily living, new-onset insomnia, social withdrawal, autistic-like regression, mutism, and catatonia. The acute phase is followed by a chronic phase in which baseline functioning may not return. No strict criteria or definitive testing is currently available to diagnose DSDD, although a comprehensive psychosocial and medical evaluation is warranted for individuals presenting with such symptoms. The etiology of DSDD is unknown, but in several hypotheses for regression in this population, psychological stress, primary psychiatric disease, and autoimmunity are proposed as potential causes of DSDD. Both psychiatric therapy and immunotherapies have been described as DSDD treatments, with both revealing potential benefit in limited cohorts. In this article, we review the current data regarding clinical phenotypes, differential diagnosis, neurodiagnostic workup, and potential therapeutic options for this unique, most disturbing, and infrequently reported disorder.


Assuntos
Atividades Cotidianas/psicologia , Transtorno Autístico/epidemiologia , Transtorno Autístico/psicologia , Síndrome de Down/epidemiologia , Síndrome de Down/psicologia , Adolescente , Transtorno Autístico/diagnóstico , Catatonia/diagnóstico , Catatonia/epidemiologia , Catatonia/psicologia , Criança , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/psicologia , Síndrome de Down/diagnóstico , Feminino , Humanos , Masculino , Transtornos do Humor/diagnóstico , Transtornos do Humor/epidemiologia , Transtornos do Humor/psicologia , Transtornos Psicóticos/diagnóstico , Transtornos Psicóticos/epidemiologia , Transtornos Psicóticos/psicologia , Literatura de Revisão como Assunto
5.
Interv. psicosoc. (Internet) ; 29(1): 39-48, ene. 2020. tab
Artigo em Inglês | IBECS | ID: ibc-190384

RESUMO

Research has highlighted that no instrument with adequate evidence of validity and reliability currently exists to assess quality of life (QoL) in children with Down syndrome (DS). Important limitations have been pointed out when existingQoL instruments for children with intellectual disability are applied to this population. The main goal of this research is to adapt the KidsLife scale by selecting the most reliable and discriminant items for children and youth with DS. The sample was composed of 405 children with DS, aged between 4 and 21 years old, attending organizations that provide educational, social, and health services. The field-test version of the KidsLife scale was administered as an informantreport, completed by someone who knew the child well, and who had opportunities to observe him/her over long periods of time in different situations. Evidence of reliability and validity based on the internal structure of the scale is provided. According to the QoL model used to develop the scale, the solution showing the best fit to the data was the one with eight intercorrelated domains. Finally, the implications of the study, its limitations and suggestions for future researchare discussed


La investigación ha puesto de manifiesto que actualmente no existen instrumentos que presenten una adecuada evidencia de validez y fiabilidad para evaluar la calidad de vida (CV) de los niños con síndrome de Down (SD). De hecho, se encuentran importantes limitaciones cuando se aplican a esta población instrumentos de CV diseñados para personas con discapacidad intelectual. El principal objetivo de este trabajo es adaptar la escala KidsLife seleccionando los ítems más fiables y con mayor poder discriminativo para los jóvenes con SD. La muestra estaba formada por 405 jóvenes con SD, con edades comprendidas entre los 4 y los 21 años que asistían a organizaciones proveedoras de servicios educativos, sociales y de salud. La versión piloto de la escala KidsLife la contestó un informante que conocía al joven o a la joven bien, teniendo la oportunidad de observarle durante periodos prolongados de tiempo en diferentes situaciones. Se proporcionan pruebas de la fiabilidad y validez basadas en la estructura interna de la escala. De acuerdo con el modelo de CV utilizado para el desarrollo de la escala, la solución que mostró mejor ajuste a los datos fue la de ocho dimensiones correlacionadas. Finalmente, se discuten las implicaciones del estudio, sus limitaciones y se hacen sugerencias para la investigación futura


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto Jovem , Adulto , Qualidade de Vida/psicologia , Síndrome de Down/psicologia , Psicometria/métodos , Prática Clínica Baseada em Evidências/métodos , Projetos Piloto
7.
J Autism Dev Disord ; 50(1): 127-144, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31541420

RESUMO

Unique socio-behavioural phenotypes are reported for individuals with different neurodevelopmental disorders. Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20) syndromes, compared to individuals with Down syndrome (DS; n = 20). The Social Anxiety and Motivation Rating Scale was employed whilst participants completed four social tasks, each administered separately by a familiar adult, and also by an unfamiliar adult. Compared to participants with DS, those with FXS and RTS exhibited high levels of social anxiety but similar levels of social motivation. Participants with CdLS showed heightened social anxiety and reduced social motivation only during interactions with an unfamiliar adult when active participation was voluntary.


Assuntos
Síndrome de Cornélia de Lange/psicologia , Síndrome de Down/psicologia , Síndrome do Cromossomo X Frágil/psicologia , Motivação , Fobia Social , Síndrome de Rubinstein-Taybi/psicologia , Comportamento Social , Adulto , Feminino , Humanos , Masculino , Adulto Jovem
8.
J Autism Dev Disord ; 50(1): 349-355, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31571067

RESUMO

In this preliminary study, we examined peer victimization in adolescents with Down syndrome (DS) and how it relates to language and communication skills. We modified the Childrens' Social Experience Questionnaire (Crick and Grotpeter in Dev Psychopathol 8:367-380, 1996) to better suit adolescents with DS by simplifying vocabulary and syntax, using two step interview response format. Internal reliability was adequate, and all peer victimization measures were significantly elevated compared to a typically developing sample. Further, peer victimization (especially relational victimization) correlated with speech intelligibility, pragmatic judgment, conversational behavior, and receptive vocabulary. These preliminary data suggest that having DS may put adolescents at risk for peer victimization, but having relatively good language/communication skills may be a protective factor. Further research is warranted on this topic.


Assuntos
Bullying/psicologia , Vítimas de Crime/psicologia , Síndrome de Down/psicologia , Transtornos do Desenvolvimento da Linguagem/psicologia , Adolescente , Bullying/estatística & dados numéricos , Criança , Linguagem Infantil , Comunicação , Vítimas de Crime/estatística & dados numéricos , Feminino , Humanos , Masculino , Grupo Associado , Reprodutibilidade dos Testes , Comportamento Social , Inteligibilidade da Fala , Inquéritos e Questionários , Vocabulário
10.
J Neurodev Disord ; 11(1): 39, 2019 12 16.
Artigo em Inglês | MEDLINE | ID: mdl-31842726

RESUMO

BACKGROUND: Adults with Down syndrome (DS) are at increased risk for Alzheimer disease dementia, and there is a pressing need for the development of assessment instruments that differentiate chronic cognitive impairment, acute neuropsychiatric symptomatology, and dementia in this population of patients. METHODS: We adapted a widely used instrument, the Clinical Dementia Rating (CDR) Scale, which is a component of the Uniform Data Set used by all federally funded Alzheimer Disease Centers for use in adults with DS, and tested the instrument among 34 DS patients recruited from the community. The participants were assessed using two versions of the modified CDR-a caregiver questionnaire and an in-person interview involving both the caregiver and the DS adult. Assessment also included the Dementia Scale for Down Syndrome (DSDS) and the Raven's Progressive Matrices to estimate IQ. RESULTS: Both modified questionnaire and interview instruments captured a range of cognitive impairments, a majority of which were found to be chronic when accounting for premorbid function. Two individuals in the sample were strongly suspected to have early dementia, both of whom had elevated scores on the modified CDR instruments. Among individuals rated as having no dementia based on the DSDS, about half showed subthreshold impairments on the modified CDR instruments; there was substantial agreement between caregiver questionnaire screening and in-person interview of caregivers and DS adults. CONCLUSIONS: The modified questionnaire and interview instruments capture a range of impairment in DS adults, including subthreshold symptomatology, and the instruments provide complementary information relevant to the ascertainment of dementia in DS. Decline was seen across all cognitive domains and was generally positively related to age and negatively related to IQ. Most importantly, adjusting instrument scores for chronic, premorbid impairment drastically shifted the distribution toward lower (no impairment) scores.


Assuntos
Síndrome de Down/diagnóstico , Testes de Estado Mental e Demência/normas , Adolescente , Adulto , Síndrome de Down/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
11.
PLoS One ; 14(11): e0225009, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31725777

RESUMO

BACKGROUND: Cognitive inhibition is one of the executive functions; this process over memory plays a fundamental role in recalling relevant information. The aims of this study were to understand the effects of maintenance load and stimuli on the operation of cognitive inhibition over memory in working memory tasks in adults with Down syndrome. METHOD: The study included 36 individuals with Down syndrome (mean age = 33.44 years, standard deviation = 7.54 years, 50% women) and 36 individuals with neurotypical development (mean age = 33.55 years, standard deviation = 7.52 years, 50% women). The participants performed a working memory task in which they had to solve an interference problem during the maintenance phase. RESULTS: The Down syndrome group performed worse on cognitive inhibition over memory than the neurotypical development group. Both groups had lower recall with interference and under high-load conditions. In the neurotypical development group, memory was similar with both materials. The Down syndrome group performed better with non-social stimuli than with social stimuli. CONCLUSIONS: Understanding the variables that influence cognitive inhibition over memory will help in planning effective interventions for people with Down syndrome. Considering the results, special importance should be placed on work with social stimuli, at least in individuals with Down syndrome.


Assuntos
Cognição , Síndrome de Down/psicologia , Função Executiva , Inibição Psicológica , Memória , Adulto , Análise de Variância , Síndrome de Down/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Adulto Jovem
12.
Science ; 366(6467): 843-849, 2019 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-31727829

RESUMO

Down syndrome (DS) is the most common genetic cause of intellectual disability. Protein homeostasis is essential for normal brain function, but little is known about its role in DS pathophysiology. In this study, we found that the integrated stress response (ISR)-a signaling network that maintains proteostasis-was activated in the brains of DS mice and individuals with DS, reprogramming translation. Genetic and pharmacological suppression of the ISR, by inhibiting the ISR-inducing double-stranded RNA-activated protein kinase or boosting the function of the eukaryotic translation initiation factor eIF2-eIF2B complex, reversed the changes in translation and inhibitory synaptic transmission and rescued the synaptic plasticity and long-term memory deficits in DS mice. Thus, the ISR plays a crucial role in DS, which suggests that tuning of the ISR may provide a promising therapeutic intervention.


Assuntos
Síndrome de Down/fisiopatologia , Síndrome de Down/psicologia , Plasticidade Neuronal , Proteostase/fisiologia , Estresse Fisiológico/fisiologia , Transmissão Sináptica , Animais , Encéfalo/fisiopatologia , Fator de Iniciação 2 em Eucariotos/metabolismo , Memória de Longo Prazo , Camundongos , Camundongos Mutantes , Biossíntese de Proteínas , Estresse Fisiológico/efeitos dos fármacos , Estresse Fisiológico/genética , eIF-2 Quinase/antagonistas & inibidores , eIF-2 Quinase/genética , eIF-2 Quinase/metabolismo
14.
Cuad Bioet ; 30(100): 315-329, 2019.
Artigo em Espanhol | MEDLINE | ID: mdl-31618593

RESUMO

Down Syndrome diagnosis communication has got serious ethical implications, since the aim thereof can be either eugenic or therapeutic. The purpose of this paper is, on the one hand, to highlight the fundamental role which sanitary proffesionals play in diagnosis communication and the subsequent decission of the mother. On the other, recommendations on the way to communicate a diagnosis are set out. Finally, in order to analize the state of play in Spain the results of a cross-sectional descriptive study with a sample of 352 mothers are exposed. In this study the mothers express, by means of a survey, their personal experiencies of how they have received the news. It is concluded that the communication of Down syndrome diagnosis can be improved in many aspects.


Assuntos
Síndrome de Down/diagnóstico , Mães/psicologia , Diagnóstico Pré-Natal/ética , Revelação da Verdade/ética , Aborto Eugênico/ética , Adulto , Atitude , Estudos Transversais , Tomada de Decisões , Síndrome de Down/embriologia , Síndrome de Down/prevenção & controle , Síndrome de Down/psicologia , Emoções , Feminino , Humanos , Recém-Nascido , Relações Médico-Paciente , Gravidez , Diagnóstico Pré-Natal/psicologia , Distância Social , Espanha , Valor da Vida
15.
Prax Kinderpsychol Kinderpsychiatr ; 68(6): 525-539, 2019 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-31480945

RESUMO

Quality of Life in Children with Down Syndrome from Parental Point of View Parents of 42 children with Down syndrome (mean age 9 years) report on their child's quality of life (physical, emotional and social domain). The KINDL-R was used as a proxy-report measure. Quality of life correlated negatively with behavioral symptoms (SDQ), but did not vary between children in mainstreamed or special schools. Regression analysis identified the child's behavioral symptoms and parental stress - assessed when the children had reached the age of five - as significant predictors of quality of life assessed four years later.


Assuntos
Síndrome de Down/psicologia , Pais/psicologia , Qualidade de Vida , Inquéritos e Questionários , Criança , Pré-Escolar , Humanos , Procurador , Estresse Psicológico
16.
Res Dev Disabil ; 94: 103460, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31476725

RESUMO

BACKGROUND: The phenotype of Down syndrome (DS) is usually characterized by relative strengths in visual skills and severe deficits in auditory processing; this has consequences for language and communication. To date, it is not known whether this pattern characterizes the psycholinguistic profile of young adults with DS. AIMS: This study aimed to assess whether, relative to their cognitive level, young adults with DS present a specific and homogeneous phenotype for both auditory and visual psycholinguistic skills. METHODS AND PROCEDURES: Fifty young adults with DS and 50 peers with other intellectual disability (ID) were equated in chronological age and nonverbal cognition and were compared regarding their performance in auditory and visual psycholinguistic functions. OUTCOMES AND RESULTS: Participants with DS showed more phenotypic-specific deficits in auditory psycholinguistic skills than in those involved in visual processing. However, phenotypic-specific impairments in visual psycholinguistic skills were also observed, while no significant between-group differences were found for some auditory psycholinguistic skills. CONCLUSIONS AND IMPLICATIONS: The psycholinguistic pattern of young adults with DS is not homogeneous with respect to auditory and visual processing. The profile of specific deficits suggests that the educative support for young adults with DS may need to be specific.


Assuntos
Percepção Auditiva , Transtornos da Comunicação , Síndrome de Down , Deficiência Intelectual , Reconhecimento Visual de Modelos , Cognição , Transtornos da Comunicação/diagnóstico , Transtornos da Comunicação/etiologia , Transtornos da Comunicação/psicologia , Síndrome de Down/diagnóstico , Síndrome de Down/psicologia , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/psicologia , Desenvolvimento da Linguagem , Masculino , Fonética , Psicolinguística , Fala , Comportamento Verbal , Adulto Jovem
17.
Prensa méd. argent ; 105(8): 477-482, sept 2019. tab
Artigo em Inglês | LILACS, BINACIS | ID: biblio-1023276

RESUMO

Physical culture and sports are still an effective means of rehaabilitation and social integration of persons with weakened health. They allow people with disabilities to fully discover all their functional reserves and be active members of society. In this regard, the further development of physical culture and sports work with people with various health problems is very promising. One of the types of such activities are footbal groups, where children and young people with Down's syndrome are becoming more active. For athletes with a mosaic form of Down's syndrome, it is very important, first of all, that there are conditions for practicing football, that is, a gym with inventory, as evidencedby high marks to the quality of the classes. The use of visual training methods (instructions, drawings, schemes) in training improves the interaction of athletes with the coach, facilitates the assimilation of the training material and thereby increases the motor density of the session. It is clear that the personality of the coach plays the leading role in the training process. From how competently he interacts with his athletes, how attentive to the, how uch he carries them into playing sports ultimately depends the result of his activities ad the success of the students. It is also very important attention to the success of young athletes with a mosaic form of Down syndrome. Promotion of football among them and their active encouragement for sportes success is a serious incentive form their further employment in football and increases the popularity not only of this sport, but also of a healthy lifestyle (AU)


Assuntos
Humanos , Criança , Adolescente , Adulto , Satisfação Pessoal , Futebol , Exercício Físico , Síndrome de Down/psicologia , Tutoria , Papel Profissional , Esportes para Pessoas com Deficiência/psicologia , Estilo de Vida Saudável , Tutoria
18.
Index enferm ; 28(3): 134-138, jul.-sept. 2019.
Artigo em Espanhol | IBECS | ID: ibc-192669

RESUMO

El nacimiento de un niño con Síndrome de Down (SD) es una situación que viene acompañada de un gran impacto familiar y social. Todavía hoy existen actitudes negativas y de desconocimiento ante estas personas y sus familias. En el presente estudio se pretende dar a conocer la experiencia de Josefa, una mujer de 72 años, en la crianza de su hija María, con SD. Para ello, siguiendo una metodología cualitativa mediante la realización de una entrevista semiestructurada, se analizan distintos aspectos del relato de Josefa como son la comunicación del diagnóstico, el afrontamiento de la noticia, los cambios en el estilo de vida, la familia, satisfacciones y enriquecimientos, problemas durante la infancia, preocupaciones actuales y su visión de futuro. Mostrando este tipo de experiencias, se contribuye a disminuir esas actitudes negativas, facilitando así la integración de las personas con SD en nuestra sociedad


The birth of a child with Down Syndrome (DS) is a situation that is accompanied by a great family and social impact. There are still negative attitudes and ignorance today. The aim of this study is to present the experience of Josefa, a 72-year-old woman, in the raising of her daughter with SD María. For this, following a qualitative methodology by conducting a semi-structured interview, different aspects of Josefa's story are analyzed, such as the communication of the diagnosis, the confrontation of the news, changes in lifestyle, family, satisfaction and enrichment, problems during childhood, current concerns and vision of the future. By making this type of experience known, it helps to reduce these negative attitudes, thus facilitating the integration of people with DS in our society


Assuntos
Humanos , Síndrome de Down/psicologia , Educação Infantil/psicologia , Pesquisa Qualitativa , Adaptação Psicológica , Estilo de Vida
19.
Med Hypotheses ; 131: 109289, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31443780

RESUMO

Mental retardation is a progressive condition in Down syndrome: intelligence starts to decline linearly within the first year. This phenomenon could be related to the overproduction of a toxic compound, hydrogen sulfide. Indeed, a gene located on chromosome 21 controls the production of cystathionine-ß-synthase, an enzyme involved in hydrogen sulfide production in the central nervous system. It has recently been demonstrated that excess cystathionine-ß-synthase levels are needed and sufficient to induce cognitive phenotypes in mouse models of Down syndrome. Thus, two therapeutic options might be used in Down syndrome patients: the use of a specific cystathionine ß-synthase inhibitor and the use of an effective antidote to reduce hydrogen sulfide toxicity. Prenatal treatment of Down syndrome fetuses is also suggested.


Assuntos
Cistationina beta-Sintase/fisiologia , Síndrome de Down/psicologia , Sulfeto de Hidrogênio/antagonistas & inibidores , Deficiência Intelectual/terapia , Ácido Amino-Oxiacético/uso terapêutico , Animais , Benserazida/uso terapêutico , Encéfalo/metabolismo , Cromossomos Humanos Par 21/genética , Cobamidas/uso terapêutico , Cistationina beta-Sintase/antagonistas & inibidores , Cistationina beta-Sintase/genética , Modelos Animais de Doenças , Progressão da Doença , Dissulfiram/uso terapêutico , Síndrome de Down/genética , Inibidores Enzimáticos/uso terapêutico , Dosagem de Genes , Humanos , Sulfeto de Hidrogênio/metabolismo , Recém-Nascido , Deficiência Intelectual/tratamento farmacológico , Deficiência Intelectual/genética , Camundongos , Mitocôndrias/metabolismo , Ratos , Nitrito de Sódio/uso terapêutico , Especificidade da Espécie , Tiossulfatos/metabolismo
20.
IEEE Trans Neural Syst Rehabil Eng ; 27(8): 1589-1596, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31265404

RESUMO

Gait characteristics in Down syndrome (DS) are documented in terms of discrete kinematic variables. However, such features are strictly interrelated and reflect neurological and developmental delays. A phenotypical, quantitative assessment of how multi-joint walking patterns are activated and controlled during gait would enhance the understanding of locomotor mechanisms in such patients. We adopted an analysis framework based on principal component analysis: the gait kinematics of 221 patients aged 6-45 were expressed in terms of a reduced set of one-dimensional movement components. Their time course during the gait cycle was described by score vectors, here called principal positions; its second time derivative, called principal acceleration, characterized the activity of the neuromuscular controller on each component. Outcomes were compared to an age-matched group of 49 healthy individuals. After controlling for the effect of walking speed, we observed that the main alterations in gait patterns emerged in the fourth component which is mostly devoted to stability management (group differences, p < 0.001). Rather, the main sagittal-plane locomotor patterns showed only subtle differences from the control group. Using statistical parametrical mapping, we found when (step-to-step transitions) and how (interrelated joints motion) the fourth movement deviated from normal: in particular, an excessive hip adduction and trunk inclination during the transition between single and double support phases. These findings match the neurological and sensorimotor trait of DS and suggest the promotion of targeted rehabilitative interventions. Furthermore, this paper opens to the adoption of principal positions and principal accelerations to investigate the neuromuscular control of movement patterns during locomotion.


Assuntos
Síndrome de Down/fisiopatologia , Marcha , Postura , Adolescente , Adulto , Algoritmos , Fenômenos Biomecânicos , Criança , Síndrome de Down/psicologia , Feminino , Humanos , Articulações/fisiopatologia , Masculino , Pessoa de Meia-Idade , Movimento , Análise de Componente Principal , Caminhada , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA