Desarrollo de habilidades comunicativas en lactantes con síndrome de Down posterior a capacitaciones sistematizadas en comunicación gestual / Development of communicative abilities in infants with Down syndrome after systematized training in gestural communication

INTRODUCCIÓN: La comunicación gestual, entendida como el uso de gestos no verbales antes de la aparición de la palabra, es una fortaleza en niños con síndrome de Down (SD). OBJETIVO: Describir conductas de desarrollo comunicativo en niños con SD, previo y posterior a capacitaciones en comunicación gestual, basadas en talleres de "Señas, palabras y juegos" del programa Baby Signs®. SUJETOS Y MÉTODO: Estudio prospectivo de niños con SD entre 18 y 22 meses de edad cognitiva, a los cuales se les realizó capacitaciones en comunicación gestual según la metodología Baby Signs, evaluando habilidades comunicativas a través del inventario McArthur adaptado para niños con SD (Inventario de desarrollo comunicativo, CDI-SD), analizando los puntajes antes y 3 meses después de la intervención. Los ítems evaluados corresponden a: Comprensión temprana, Comprensión de las primeras frases, Comenzando a hablar, Lista de vocabulario y Uso descontextualizado del lenguaje (parte 1) y a Gestos totales, tempranos y tardíos (parte 2). RESULTADOS: 21 niños completaron los talleres, con una media de edad cronológica de 27,5 meses y 19,8 meses de edad cognitiva. El 29% de los participantes aumentaron sus puntajes en comprensión de frases, el 62% en producción de vocabulario con gestos, el 33% mejora la comprensión de vocabulario, el 57% perdió los gestos tempranos y el 43% aumentó la producción de gestos tardíos. CONCLUSIONES: Las capacitaciones en comunicación gestual favorecen el desarrollo de habilidades comunicativas en un grupo de niños con SD, principalmente en la com prensión inicial y producción de gestos. Existe importante variabilidad interindividual, por lo que es necesario considerar las recomendaciones niño a niño.

INTRODUCTION: Gestural communication, understood as the use of non-verbal gestures before the word appears, is a strength in children with Down syndrome (DS). OBJECTIVE: To describe com munication development behaviors in children with DS, before and after gestural communication training, based on the "Signs, words and games" workshops of the Baby Signs® program. SUBJECTS AND METHOD: Prospective study of children with DS between 18 and 22 months of cognitive age, who were trained in gestural communication according to the "Baby Signs®" methodology, evaluating communication skills through the MacArthur inventory adapted for children with DS (Communica tive Development Inventories, CDI-DS), analyzing the scores before and three months after the in tervention. The evaluated items were: Early comprehension, First sentences comprehension, Starting to speak, Vocabulary list, and Decontextualized language use (part 1) and total, early and late gestures (part 2). RESULTS: 21 children completed the workshops, with an average chronological age of 27.5 months and 19.8 months of cognitive age. 29% of the participants increased their scores in sentence comprehension, 62% in vocabulary production with gestures, 33% improved in vocabulary compre hension, 57% lost early gestures, and 43% increased late gestures production. CONCLUSIONS: Gestural communication training favors the communication skills development in a group of children with DS, mainly in the initial understanding and gesture production. There is important inter-individual variability, therefore is necessary to consider child to child recommendations.

Intervención temprana en Síndrome de Down: Una revisión sistemática / Early intervention in Down Syndrome: A systematic review

El Síndrome de Down (SD) presenta importantes diferencias en tasas de incidencia según territorios y países, siendo además uno de los trastornos genéticos más complejos, aunque su detección sea la más precoz de los trastornos tempranos. En España se ha producido una drástica reducción de nacimientos, existiendo un aumento en otras zonas del mundo como Latinoamérica. Objetivo y método: Se realizó una revisión sistemática sobre el conocimiento científico actual relacionado con intervenciones tempranas en SD desde los años 2000 al 2017, utilizando la metodología PRISMA. Resultados: Se observa intensas lagunas metodológicas, enfatizándose las investigaciones transversales por encima de los longitudinales y sobre todo en zonas concretas del mundo. De este síndrome siguen interesando los factores cognitivos en detrimento de variables familiares y otros aspectos claves para un desarrollo psicoevolutivo adecuado de esta población clínica. No se observan trabajos de intervención temprana ni de evaluación de programas en países hispanohablantes, y la mayoría de publicaciones científicas mezclan edades y sexos en sus muestras. Discusión: Se discuten los resultados obtenidos de la revisión realizada. Conclusiones: A lo largo del tiempo se observa una importante reducción del interés científico por este síndrome. Se siguen realizando trabajos de manera redundante sobre los mismos aspectos, sin valorar subdimensiones imprescindibles para el desarrollo biopsicosocial de este colectivo

Down Syndrome (DS) presents important differences in incidence rates according to territories and countries. It is also one of the most complex genetic disorders, although its detection is the earliest of the early disorders. In Spain there has been a drastic reduction in births, with an increase in other parts of the world such as Latin America. Objective and method: The aim is to carry out a systematic review of current scientific knowledge related to early interventions in DS from 2000 to 2017, using the PRISMA methodology. Results: Intense methodological gaps are observed, emphasizing cross-sectional research over longitudinal and especially in specific areas of the world. Cognitive factors continue to be of interest in this syndrome to the detriment of family variables and other key aspects for an adequate psychoevolutionary development of this clinical population. No early intervention or program evaluation work is observed in Spanish-speaking countries, and most scientific publications mix ages and sexes in their samples. Discussion: The results obtained from the review are discussed. Conclusions: Over time, there has been a significant reduction in scientific interest in this syndrome. Work continues to be carried out in a redundant manner on the same aspects, without valuing essential subdimensions for the biopsychosocial development of this group

Efecto de una intervención basada en realidad virtual sobre las habi lidades motrices básicas y control postural de niños con Síndrome de Down / Effect of an intervention based on virtual reality on motor development and postural control in children with Down Syndrome

Resumen: Los estudios sobre intervenciones basadas en realidad virtual y su efecto en el desarrollo motor y control postural en niños con Síndrome de Down (SD) son escasos. Objetivo: Determinar el efec to de una intervención basada en realidad virtual, sobre el desarrollo motor y el control postural en niños con SD. Pacientes y Método: Estudio con un enfoque cuantitativo, con un diseño cuasi experimental, que incluyó a 16 niños con SD asignados aleatoriamente a un grupo experimental (GWBB, n = 9) y grupo control (GC, n = 7). Se evaluó control postural mediante el desplazamien to del centro de presión y desarrollo motor con TGMD-2. El programa de intervención se llevó a cabo durante 2 veces por semana por 5 semanas. Los datos fueron sometidos a análisis estadísti cos, el test de Shapiro Wilk para la distribución de la muestra, y T de Student para la comparación de medias de los grupos. Resultados: Se observaron cambios significativos en el Test TGMD-2 y en su subtest de manipulación (p < 0,01) respectivamente. En el resto de las pruebas hubo una mejora, pero no se observan diferencias significativas. Conclusión: Una intervención basada en realidad virtual fue efectiva solo en el GWBB, proporcionando ejercicios de bajo impacto para mejorar el control postural y provocando con ello una mejora de las habilidades motoras en niños con SD.

Abstract: There are few studies on the effect of a virtual reality-based intervention on motor development and postural control in children with Down Syndrome (DS). Objective: To determine the effect of a virtual reality-based intervention on motor development and postural control in children with DS. Patients and Method: Study with a quantitative approach, with a quasi-experimental design, which included 16 children with DS randomly assigned to an experimental group (GWBB, n = 9) and con trol group (GC, n = 7). Postural control was evaluated by the center of pressure displacement and motor development with TGMD-2. The intervention program was carried out for five weeks, two times per week. The data were subjected to statistical analysis, the Shapiro Wilk test for the sample distribution, and the Student's T-test for the comparison of group means. Results: Significant chan ges were observed in the TGMD-2 Test and its manipulation subtest (p <0.01) respectively. In the rest of the tests, there was an improvement, but no significant differences were observed. Conclusion: A virtual reality-based intervention was effective in GWBB, providing low-impact exercises to improve postural control and thus leading to improved motor skills in children with DS.

[Timely consideration of future care; advance care planning for people with intellectual disabilities]. / Tijdig nadenken over toekomstige zorg.

People with intellectual disabilities (IDs) are often unable to decide for themselves regarding complex medical decisions, and need assistance from representatives, often next-of-kin. People with IDs are often frail. This frailty is characterized on the one hand by health problems, on the other hand by significant limitations in both intellectual functioning and in adaptive behaviour. In this group of people, when compared to the general population, the principles of palliative care are applicable more often and over a longer period. Advance care planning should be considered not only at the end of life, but at each stage where decisions have to be made that may affect quality of life. In this article, we present three patient cases to illustrate the complexity of the process and the commitment of representatives and other key stakeholders.

Contribuições da Fonoaudiologia na inserção de pessoas com síndrome de Down no mercado de trabalho / Contributions of speech-language therapy to the integration of individuals with Down syndrome in the workplace

RESUMO Objetivo Analisar as contribuições da Fonoaudiologia no processo de inserção no ambiente laboral de jovens com síndrome de Down (SD), tendo em vista sua profissionalização. Método Foi aplicado um questionário em oito alunos de graduação, que fazem parte de um projeto de extensão com pessoas com síndrome de Down, cinco mães das pessoas com SD e quatro funcionários da instituição onde são realizados os estágios. As temáticas exploradas nas questões envolviam aspectos da comunicação, comportamento, interação social, autonomia e independência dos estagiários com síndrome de Down. Os jovens participantes do projeto com SD, denominados estagiários, passaram a fazer parte da rotina de trabalho de cinco setores da universidade em que se realizou a pesquisa. O estudo se caracteriza como descritivo e transversal e os dados foram analisados quanti e qualitativamente, e foi aprovada pelo comitê de ética em pesquisa da instituição de origem. Resultados Segundo os dados pesquisados as habilidades de linguagem das pessoas com SD foram consideradas boas, no entanto as mesmas não estavam efetivas para o mercado de trabalho. Após a inserção em um ambiente de trabalho, foi visto que houve mudanças significativas tanto na comunicação como na autonomia dos sujeitos do estudo. Os mesmos, não são independentes, mas após o estágio também foram perceptíveis mudanças no comportamento social, bem como na sua autonomia. Conclusão Houve mudanças no comportamento social, maior uso da autonomia e ganhos na comunicação, contribuindo no empoderamento dos jovens com síndrome de Down.

ABSTRACT Purpose To analyze the contributions of speech-language therapy in the integration of young individuals with Down syndrome (DS) into the workplace, with reference to their professionalization. Methods A questionnaire was distributed to eight undergraduate students (tutors) who participated in a project with individuals with DS, five mothers of individuals with DS, and five employees from the institution in which the present study was conducted. The questionnaire assessed the communication, memory, behavior, social interaction, autonomy and independence of the participants with DS, called "trainees". The trainees were employed in one of five routine work sectors at the university that conducted the present study. The data collected in this descriptive and cross-sectional study were analyzed quantitatively and qualitatively. The Research Ethics Committee of the affiliated institute approved the project. Results Mothers and tutors rated the trainees' language skills as "good". However, their ratings differed from those of the participating employees. After the trainees with DS were placed in a work environment, significant changes were observed in their communication and autonomy. There was no improvement in the trainees' independence, but after training noticeable changes were observed in their social behavior and autonomy. Conclusion Speech-language therapy during vocational training led to positive changes in the social behavior of individuals with DS, as evidenced by an increase in their autonomy and communication.

A eficácia da estimulação cortical no desenvolvimento perceptivo motor de adolescentes com síndrome de Down / The efficacy of cortical stimulation in the motor perceptual development of adolescents with Down syndrome

Objetivo: Avaliar a eficácia da estimulação cortical no desenvolvimento perceptivo motor de adolescentes com Síndrome de Down (SD). Métodos: Realizou-se um estudo experimental, com 36 adolescentes com idade compreendida entre 13 a 17 anos de idade, estudantes da Associação de Pais e Amigos dos Excepcionais, divididos em grupo controle (GA) e grupo experimental (GB). Foram avaliados pelo teste de processamento mental e como procedimento de intervenção utilizou-se o programa de estimulação cortical que foi realizado através de estímulos auditivos por vias de batidas. Resultados: Obteve-se para GBXGA um valor significativo entre os blocos F= 21.08 um p <0.01, portanto o melhor desempenho dos participantes do GB, não foi ao acaso, pois para dirimir qualquer dúvida aplicou-se o teste de Turkey, que revelou para uma variância Q= 0.08 um p<0.01. Conclusão: Dessa forma a presente pesquisa constatou a eficácia que a estimulação cortical proporcionou na melhora significativa no desenvolvimento perceptivo motor dos adolescentes com SD.

Objective: To evaluate the efficacy of cortical stimulation in the motor perceptive development of adolescents with Down syndrome (DS). Methods: An experimental study was carried out with 36 adolescents between the ages of 13 and 17, students of the Association of Parents and Friends of the Exceptional, divided into control group (GA) and experimental group (GB). They were evaluated by the mental processing test and as an intervention procedure the cortical stimulation program was performed through auditory stimuli by beat pathways. Results: A significant value was found for GBXGA between the F= 21.08 and p<0.01 blocks, so the best performance of the participants in GB was not random, since the Turkey test was used to resolve any doubts. Revealed for a variance Q= 0.08 a p <0.01. Conclusion: In this way the present research verified the effectiveness that the cortical stimulation provided in the significant improvement in the motor perceptive development of the adolescents with DS.

A case report with the peculiar concomitance of 2 different genetic syndromes.

RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period. DIAGNOSES: Skeletal muscle biopsy revealed marked dystrophic changes with patchy immunostaining for dystrophin. The Duchenne muscular dystrophy gene was screened for deletions by multiplex polymerase chain reaction, but no mutations were found. Sequence analysis of the Duchenne muscular dystrophy gene revealed a splice-site mutation c.1812+1G>A in intron 15 and confirmed a diagnosis of Becker muscular dystrophy. INTERVENTIONS: The patient has started a specific physiotherapy that avoided any deterioration in motor development and muscular wasting. OUTCOMES: A multidisciplinary follow-up was initiated. The genetician that followed the patient for DS was supported by the neurologist, the physiotherapist, the pulmonologist, and the cardiologist. LESSONS: This peculiar "double trouble" case exemplifies the value of careful clinical evaluation and adequate clinical experience to identify the concomitance of 2 different genetic syndromes in the same patient, and it points out the significance of muscular strength assessment in DS patients to make the most correct prognosis, and, consequently, to organize the best long-term care.

Benefits of a Culturally Tailored Health Promotion Program for Latino Youth With Disabilities and Their Families.

Little research is available about youth with disabilities, who experience numerous inequalities in health outcomes compared with youth without disabilities. Youth with disabilities experience many environmental and attitudinal barriers in maintaining healthy lifestyles, which put them at risk for obesity. Strong evidence has suggested that obesity rates are higher among youth with disabilities than among their nondisabled peers. The purpose of this study was to implement and examine the benefits of a culturally tailored healthy lifestyles program for Latino youth with disabilities and their families. Several cultural adaptations were made to align with the target population's cultural norms. Seventeen Latino families identified 67 behaviors they wanted to change or new habits they wanted to establish. The postassessment data showed that several family routines improved, and families reported engaging in many of the healthy habits they had identified for themselves. Implications of culturally appropriate and accessible programming are discussed.

Avaliação postural pré e pós-tratamento equoterapêutico em indivíduos com síndrome de Down / Evaluation postural pre and post-treatment in hippotherapy in individuals with Down syndrome

Introdução: Indivíduos com Síndrome de Down (SD) apresentam alterações motoras que contribuem para um desalinhamento de membros inferiores. Objetivo: Avaliar mudanças posturais de pacientes com SD submetidos a Equoterapia. Métodos: Participaram do estudo 5 indivíduos com SD, idade média de 12,60 anos (± 3,21). Avaliações foram feitas antes e após 20 sessões. A avaliação postural foi feita por fotogrametria utilizando o Software de Avaliação Postural (SAPO). Para análise estatística quantitativa realizou-se o teste "t" de Student, e análise qualitativa feita por meio de Cluster. Resultados: Nas vistas anterior, posterior e laterais após o tratamento equoterapêutico apresentaram diminuição da anteversão pélvica, da hiperextensão de MMII e melhor alinhamento do joelho com o quadril. A análise de Cluster demonstrou um agrupamento mais próximo das variáveis indicando que se comportaram de maneira mais semelhante entre elas. Conclusão: A Equoterapia promoveu mudanças posturais, com melhora do alinhamento de membros inferiores em indivíduos com SD.

Introduction: Individuals with Down syndrome (DS) have motor alterations that contribute to subsequent dealignment of the lower limbs. Objective: To evaluate the changes in the posture of the lower limbs of practitioners with DS who underwent hippotherapy. Methods: The study included 5 individuals with Down syndrome, mean age of 12.60 years-old (± 3.21). The evaluations were performed before and after 20 sessions of Hippotherapy. Postural assessment was made by photogrammetry using the Postural Assessment Software (SAPO), with marking distance to check for changes in the lower limbs. For quantitative analysis was done the statistical test "t" student (p <0.05), and qualitative analysis made by Cluster. Results: The increase of the distances analyzed in views anterior, posterior and lateral left and right after treatment with hippotherapy resulted in decreased pelvic anteversion, hyperextension of the lower limbs, lower anterior body and better alignment of the knee with the hip. Cluster analysis showed a grouping closest variable indicating that behaved more like therebetween. Conclusion: Hippotherapy promoted postural changes, providing an improved alignment of the lower limbs in individuals with Down syndrome.

Tanshinone IIA attenuates interleukin-17A-induced systemic sclerosis patient-derived dermal vascular smooth muscle cell activation via inhibition of the extracellular signal-regulated kinase signaling pathway

OBJECTIVE: Salvia miltiorrhiza has long been used to treat systemic sclerosis. Tanshinone IIA, one of the phytochemicals derived from the roots of Salvia miltiorrhiza, exhibits multiple biological activities. The present study aimed to investigate whether tanshinone IIA has an effect on the interleukin-17A-induced functional activation of systemic sclerosis patient-derived dermal vascular smooth muscle cells. METHODS: Systemic sclerosis patient-derived dermal vascular smooth muscle cells were incubated with various dosages of tanshinone IIA in the presence of interleukin-17A or the serum of systemic sclerosis patients. Cell proliferation was assessed using Cell Counting Kit-8. The expression of collagen 1 and 3 in cells was evaluated by immunofluorescence. Cell migration was measured using a transwell assay. The expression of phospho-extracellular signal-regulated kinase was detected by Western blotting. RESULTS: Our data demonstrate that tanshinone IIA exerts an inhibitory effect on interleukin-17A-induced systemic sclerosis patient-derived dermal vascular smooth muscle cell proliferation, collagen synthesis and migration. CONCLUSION: These findings suggest that tanshinone IIA might serve as a promising therapeutic agent for the treatment of systemic sclerosis. .

Material de montaria para equoterapia em indivíduos com síndrome de Down: estudo eletromiográfico / Riding equipment for hippotherapy in individuals with Down syndrome: an electromyographic study

Introdução: Os indivíduos com síndrome de Down apresentam características peculiares da anomalia, sendo a principal e mais frequente a hipotonia muscular. Objetivo: Verificar o melhor material de montaria e posicionamento dos pés para o recrutamento da musculatura de tronco de crianças com síndrome de Down que utilizam do tratamento da equoterapia. Métodos: Foram avaliados cinco praticantes com síndrome de Down por meio da eletromiografia, durante quatro sessões de equoterapia. Para análise estatística, foi utilizado o teste de Kruskal- Wallis para comparações múltiplas de dados não paramétricos. Resultados: O material de montaria de manta associado com os pés fora do estribo proporcionou maior recrutamento dos músculos estudados, sendo o músculo da região cervical o mais acionado. Conclusão: Por meio desse estudo piloto, infere-se que a manta com pés fora do estribo promoveu uma melhor otimização do tônus dos indivíduos analisados.

Introduction: Individuals with Down syndrome have peculiar characteristics of the anomaly, the main and most common is muscle hypotonia. Objective: To check the best material to mount and position the feet for the recruitment of the trunk muscles of children with Down syndrome using the treatment of hippotherapy. Methods: Five riders with DS were assessed using surface electromyography during four sessions of therapeutic riding. Statistic analysis: data were analyzed using the Kruskal-Wallis non parametric test. Results: The material riding blanket associated with the feet out of the stirrup elicited greater recruitment of the muscles being studied, the muscle of the cervical region being triggered the most. Conclusion: Through this pilot study we infer that the blanket with feet out of the stirrup promoted a better optimization of the tone of the individuals included in the study.

Intervención neuropsicológica en un caso de retardo mental asociado a síndrome de Down / Neuropsychological Rehabilitation on mental retardation associated with Down's syndrome

Dentro de la población afectada de retraso mental, el síndrome de Down (SD) constituyen uno de los grupos más estudiados y es una de las causas genéticas más comunes, ocurriendo con gran frecuencia. Esta condición es el resultado de una anormalidad de los cromosomas, esta desviación en el desarrollo de las células resulta en la producción de 47 cromosomas en lugar de 46 que se consideran normales. El cromosoma adicional cambia totalmente el desarrollo ordenado del cuerpo y cerebro, produciendo alteraciones evidentes tanto físicas como cognitivas que afectan la capacidad adaptativa. El objetivo de este artículo es presentar el caso de una paciente con SD y mostrar los resultados de la aplicación de un programa de intervención neuropsicológica centrado en el fortalecimiento del factor primario, como eje para facilitar el funcionamiento sistémico. Se presenta la valoración previa a la intervención, el contenido del programa de intervención con los ejemplos de ejecuciones de la paciente, una valoración posterior y un análisis comparativo. La discusión se centra en la importancia de la identificación del mecanismo neurofisiológico primario que desorganiza la actividad, como eje fundamental para lograr efectos positivos en actividades de tipo voluntario mediante el lenguaje como regulador...

Within the affected population in mental retardation, Down syndrome (DS) is one of the most studied and is one of the most common genetic causes, occurring with great frequency. This condition is the result of an abnormality of chromosomes, a deviation in the development of cells results in production of 47 chromosomes instead of 46 which are considered normal. The extra chromosome changes the orderly development of the body and brain, causing both physical and obvious alterations that affect cognitive adaptive capacity. The aim of this paper is to present the case of a patient with SD and display the results of the application of a neuropsychological intervention program focused on strengthening the primary factor, as an axis to facilitate systemic functioning. It comes pre assessment, the content of the intervention program with examples of executions of the patient, after a review and comparative analysis. The discussion focuses on the importance of identifying the primary neurophysiological mechanism that disrupts the activity, as the linchpin for achieving positive effects on activities of a volunteer through language as a regulator...

A intervenção fisioterapêutica no ambulatório de cuidado a pessoa com síndrome de Down no Instituto de Medicina Física e Reabilitação HC FMUSP / Physiotherapeutic intervention in the outpatient care of persons with Down syndrome at the Institute of Physical Medicine and Rehabilitation at HC FMUSP

A Síndrome de Down (SD) é a cromossosmopatia mais comum do ser humano. Sabe-se que estas pessoas quando estimuladas adequadamente apresentam potencial para uma plena inclusão social. O objetivo deste texto é divulgar o trabalho realizado junto a esta população pelo serviço de Fisioterapia que compõem a equipe multiprofissional do Ambulatório de Cuidado a Pessoa com SD do Instituto de Medicina Física e Reabilitação - HC FMUSP. Tal ambulatório desenvolve atividades terapêuticas com pessoas entre zero e 18 anos de idade. Os trabalhos são realizados em modelos que são subdivididos em: Modelo de Etimulação Global, que atende de zero a três anos cujos os objetivos são voltados a aquisição dos marcos motores, essenciais para o desenvolvimento neuropsicomotor; Modelo de Desenvolvimento Infantil que aborda crianças dos quatro aos onze anos e estão focados no desenvolvimento de habilidades motoras mais avançadas, força, estruturação postural, aprimoramento da motricidade, equilíbrio e propriocepção para otimização da atividade cerebelar e consequente melhora do equilíbrio estático e dinâmico; Modelo Adolescentes Down dos doze aos dezoito anos e Modelo Adulto Down a partir de dezenove anos que visa tratar do reestabelecimento ortopédico e postural, além de fornecer orientações de promoção e prevenção em saúde. O acompanhamento fisioterapêutico é fundamental dentro do ambulatório do cuidado à pessoa com SD pois estimula junto à equipe mustiprofissional e à família, o desenvolvimento motor destas crianças, respeitando o seu tempo e valorizando suas potencialidades, além de atuar como educador em saúde junto á família, com objetivo de prevenção e promoção da saúde da pessoa com SD e seu núcleo familiar.

Down Syndrome (SD) is the most common chromosomopathy in humans. It is known that, if properly stimulated, these people have the potential for full social inclusion. The objective of this study is to show the work done with this population by the Physiotherapy service provided by the multiprofessional team at the Clinic for the Care of Persons with DS at the Institute of Physical Medicine and Rehabilitation at HC FMUSP. This clinic develops therapeutic activities for persons up to 18 years of age. The work is carried out in models, which are subdivided into: a DS General Stimulation Model which serves patients up to three years of age whose objectives are focused on the acquisition of motor marks, essential for neuropsychomotor development; a DS Child Development Model which helps children from four to eleven years of age that focuses on the development of more advanced motor skills, strength, posture, improvement of mobility, balance, and proprioceptionto optimize cerebellar activity and the consequent enhancement of static and dynamic balance; a DS Adolescent Model for those aged twelve to eighteen; and a DS Adult Model starting at age nineteen aimed at orthopedic and postural restoration in addition to providing health guidance. Physiotherapeutic monitoring is fundamental within the clinic for the care of a person with DS, for it stimulates the motor development of these children, along with the multiprofessional team and the family, respecting their time and favoring their potentials, in addition to acting to educate the family on health so as to prevent problems and promote the health of the person with DS and their nuclear family.

Self-controlled feedback enhances learning in adults with Down syndrome / Feedback autocontrolado melhora a aprendizagem em adultos com síndrome de Down

BACKGROUND: One factor that has consistently been shown to enhance learning in typical participants is self-controlled practice. OBJECTIVES: The purpose of the present study was to examine whether the learning benefits of self-controlled feedback found previously in non-disabled adults would also be found in adults with Down syndrome. METHODS: Participants with Down syndrome practiced a linear positioning task. In the self-control group, learners were provided with feedback about the movement outcome at their request. Each participant in the yoked group received the same feedback schedule as their counterpart in the self-control group. RESULTS: Learning was assessed by a retention test, consisting of 10 trials without feedback, one day later. The self-control group demonstrated more effective learning of the task than the yoked group. CONCLUSION: Self-controlled feedback enhanced motor learning in participants with Down syndrome.

CONTEXTUALIZAÇÃO: Uma variável que consistentemente tem mostrado melhorar a aprendizagem em sujeitos típicos é a prática autocontrolada. OBJETIVOS: Examinar se os benefícios do feedback autocontrolado para a aprendizagem, encontrados previamente em adultos típicos, também serão encontrados em adultos que apresentam a Síndrome de Down. MÉTODOS: Participantes com a Síndrome de Down praticaram uma tarefa de posicionamento linear. Os aprendizes do grupo autocontrolado receberam feedback sobre o resultado do movimento, quando solicitado. Já os participantes do grupo pareado receberam o mesmo arranjo de feedback dos sujeitos do grupo autocontrolado. RESULTADOS: A aprendizagem foi avaliada por meio de um teste de retenção, o qual consistiu em dez tentativas sem feedback, um dia depois da fase de prática. O grupo autocontrolado demonstrou aprendizagem mais efetiva da tarefa do que o grupo pareado. CONCLUSÃO: Feedback autocontrolado melhora a aprendizagem motora em sujeitos com a Síndrome de Down.

Avaliação da marcha em ambiente terrestre em indivíduos com síndrome de Down / Gait value in land environments in the individuals with Down syndrome

INTRODUÇÃO: Indivíduos portadores da síndrome de Down (SD) apresentam atraso na aquisição dos padrões fundamentais de movimento, tendo como característica básica a dificuldade em formar e selecionar programas motores. OBJETIVO: Determinar as variáveis lineares da marcha em ambiente terrestre de indivíduos com SD e compará-las com os valores obtidos na literatura para indivíduos hígidos. MÉTODOS: Estudo transversal realizado com 12 indivíduos (ambos os gêneros, 18 anos ± 2,8), submetidos à avaliação das variáveis lineares da marcha em ambiente terrestre, por meio da impressão das pegadas em uma passarela de papel pardo de 15 metros de comprimento e 0,6 de largura. RESULTADOS: O grupo analisado apresentou tamanho do passo de (41,62 ± 8,39), tamanho da passada (83,24 ± 16,78), velocidade da marcha (0,60 m/s ± 0,15) e cadência de (89,35 ± 14,33 passos/minuto). CONCLUSÃO: Os valores obtidos para as variáveis lineares (tamanho do passo e passada, cadência e velocidade da marcha), neste estudo, indicam diferenças com os valores encontrados na literatura em relação a indivíduos hígidos, os valores obtidos são menores aos referenciados na literatura.

INTRODUCTION: Patients with Down syndrome (DS) present a delayed acquisition of fundamental Movement patterns, showing as a basic characteristic a difficulty to form and select motor programs. OBJECTIVE: This study aimed to determine the variables of linear motion on the ground of patients with DS and to compare them with values of healthy individuals obtained in the literature. METHODS: It is a cross-sectional study with 12 subjects (both gender, 18 years ± 2.8) submitted to an evaluation of variables of linear motion on the ground, through the printing of the footsteps on a brown paper footbridge with 15 meters long and 0.6 in width. RESULTS: The analyzed group showed a step size of 41.62 ± 8.39, stride length 83.24 ± 16.78, motion velocity of 0.60 meters per second ± 0.15 and a rate of 89.35 ± 14,33 steps per minute. CONCLUSION: The values obtained for the linear variables (step and stride size, cadence and motion speed) in this study indicate differences with the values found in the literature for healthy individuals, the found values are lower than the reported in the literature.

Protocolo de cuidado à saúde da pessoa com Síndrome de Down - IMREA/HCFMUSP / Down Syndrome health care protocol - IMREA/HCFMUSP

A Síndrome de Down (SD) ou trissomia do cromossomo 21 é a cromossomopatia mais comum noser humano, acontece independente de sexo, etnia ou classe social. No Brasil, nasce aproximadamenteuma criança com SD para cada 700 nascimentos. Sabe-se que as pessoas com síndrome deDown, quando bem atendidas e estimuladas, têm potencial para plena inclusão social. Este protocolofoi elaborado pela equipe multiprofissional de Cuidado à Saúde da Pessoa com síndromede Down do Instituto de Medicina Física e Reabilitação do Hospital das Clínicas da Faculdade deMedicina da Universidade de São Paulo. Objetivo: Oferecer orientações para o cuidado à saúdeda pessoa com Síndrome de Down, nos diferentes níveis de atenção a saúde, em todo o seu ciclovital. Método: A elaboração do protocolo de cuidado integral à saúde da pessoa com síndromede Down baseou-se em buscas no sistema PubMed, SciELO e no Cochrane Database of SystematicReviews utilizando como palavras chaves: “Down Syndrome” e “Síndrome de Down”; “Trisomy21”, “Trisomíadel Cromosoma 21” e “Trissomia do Cromossomo 21” e “Growth”, “Desarollo” e“Crescimento”. Resultados: Os artigos revistos foram publicados no período de 1972 a 2011 elimitados às línguas: inglesa, espanhola e portuguesa. Priorizamos revisões sistemáticas e metanálises.Foram incluídos também registros prévios a 1972 considerados históricos. Conclusão: Osdados foram analisados por um grupo de especialistas que discutiu os resultados e elaborou esteprotocolo.

The Down Syndrome (DS) or chromosome 21 trisomy is the most common chromosomopathy inhuman beings, it occurs regardless of gender, ethnicity, or social class. In Brazil, there is approximatelyone child born with DS for every 700 births. It is known that people with Down syndromewell cared-for and stimulated have potential for full social inclusion. This protocol was preparedby the Down Syndrome Personal Health Care multiprofessional team at the IMREA/HCFMUSP.Objective: Is to offer orientation in the health care of a person with Down Syndrome, in the differentlevels of attention to health, throughout his/her life. Method: The preparation of the total careprotocol for the health of a person with Down syndrome was based on searches in the PubMedand SciELO systems and on the Cochrane Database of Systematic Reviews using the keywords:Down syndrome and Syndrome of Down, Trisomy 21, “Trisomía del Cromosoma 21”, Chromosome21 trisomy, Growth, “Desarollo”, and “Crescimento”. Results: The articles reviewed werepublished from 1972 to 2011 and limited to the languages: English, Spanish, and Portuguese. Recordsprevious to 1972 were also included for being considered historical. Conclusion: The datawas analyzed by a group of specialists that discussed the results and prepared this protocol.

Participación de los padres en las actividades terapéuticas de las personas con Síndrome de Dow que asisten al Centro de Rehabilitación Cochabamba, durante el 3er. trimestre de la gestión 2010 / Parental involvement in therapeutic activities for people with Dow syndrome attending the Cochabamba Rehabilitation Center during the 3rd. quarter of 2010 management

El ser humano es considerado como un ser racional y consiente de sí mismo, el cual tiene aspectos físicos y psíquicos; para definir su carácter singular y único, éste debe estar en constante interrelación con el medio ambiente, debe vivir en grupo y sentirse adaptado e insertado en una sociedad.Hoy en día hay muchas Discapacidades físicas y/o mentales que discriminan a las personas, se puede citar al Síndrome de Down que es un trastorno genético.Es absolutamente necesario comprender que todo niño con Síndrome de Down o sin él constituye un ser individual. El presente trabajo busca describir las características de las personas con Síndrome de Down que asisten a CERECO y cual es la participación de los padres en actividades terapéuticas y/o de rehabilitación, la muestra estuvo representada por 25 responsables de niños con Síndrome de Down a los que se les aplicó una entrevista.Los resultados del estudio refieren que las actividades de rehabilitación que se realizan el CERECO por diferentes profesionales no son reforzadas en la casa en su totalidad, por falta de tiempo, edad de los responsables; se aprecia que las personas que dedican más tiempo al proceso de rehabilitación son en gran porcentaje madres, seguidas de hermanos, padres, tíos y abuelos

Aquisição do sentar independente na síndrome de down utilizando o balanço / Down's syndrome and the use of swings to acquire the ability to sit independently

INTRODUÇÃO: Crianças com Síndrome de Down adquirem o sentar independente por volta dos10 meses de idade, seguindo uma curva de desenvolvimento motor própria para essa síndrome.OBJETIVO: Esta pesquisa objetiva avaliar a eficácia do tratamento por meio do balanço para a aquisição do sentar independente em crianças com Síndrome de Down, sem o uso de quaisquer técnicas de fisioterapia convencional. METODOLOGIA: O estudo caracteriza-se como uma pesquisa descritiva do tipo estudo de caso, realizado no Núcleo de Assistência Integral ao Paciente Especial (NAIPE) de Joinville, SC. Os atendimentos foram individualizados, com duração de 30 minutos, nos quais a criança permanecia sentada num balanço composto por plataforma revestida com Etil vinil acetato (EVA®)colorido e texturizado, realizando-se deslocamentos lineares no sentido ântero-posterior. A amostra do estudo foi composta por três crianças com Síndrome de Down, com idade entre 6 e 7 meses, do sexo feminino, sem controle de tronco para a sedestação sem apoio. RESULTADOS: A média de sessões foi 15 (± 2). CONCLUSÃO: Observou-se que, quando estimuladas precocemente por meio do balanço, essas crianças adquiriram o sentar antes do tempo descrito pela literatura.