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Objetivo: Investigar o conhecimento dos profissionais que atuam na puericultura da rede publica de saude das Unidades Basicas de Saude (UBS) na cidade de (informacao suprimida) sobre o reconhecimento dos sinais de Autismo em criancas com idade ate 03 anos. Neste servico acontece o acompanhamento mensal e avaliacao do desenvolvimento infantil. Metodos: Estudo transversal quantitativo, foi utilizado um questionario autoaplicavel baseado nas Diretrizes de Atencao a Reabilitacao da Pessoa com Transtornos do Espectro do Autismo e a coleta de dados sociodemograficos. Participaram 22 profissionais, sendo estes: medicos clinico geral, pediatras e enfermeiros de 09 UBS do perimetro urbano da cidade. Resultados: Nenhum profissional possui formacao sobre autismo, mas demonstraram interesse em realizar capacitacao na area, os participantes tambem apresentaram dificuldade em identificar tanto os sinais de alerta para autismo quanto para observacao do desenvolvimento tipico da crianca nas consultas de puericultura. Os dados sugerem a necessidade de melhor preparo dos profissionais da atencao basica para reconhecer os sinais de autismo. Conclusao: Programas de educacao continuada que contemple o desenvolvimento infantil em sua forma mais abrangente poderiam auxiliar estes profissionais a perceber sinais de atraso do desenvolvimento com maior eficiencia e precocemente, para assim ser possivel realizar o encaminhamento de acompanhamento adequado para intervencao. Abstract Objective: To investigate the knowledge of professionals working in the public health network of Unidade Basica de Saude (UBS) in the city of Pelotas on the recognition of the signs of Autism in children aged up to 03 years. In this service, monthly monitoring and assessment of child development takes place. Methods: Quantitative cross-sectional study, a self-administered questionnaire based on the Guidelines for Attention to Rehabilitation of People with Autism Spectrum Disorders and collection of sociodemographic data was used. 22 professionals participated, including: general physician, pediatricians and nurses from 09 UBS in the urban perimeter of the city. Results: No professional has training on autism, but showed interest in training in the area, the participants also had difficulty identifying both the warning signs for autism and the observation of the child's typical development in childcare consultations. The data suggest the need for better preparation of primary care professionals to recognize signs of autism. Conclusion: Continuing education programs that contemplate child development in its most comprehensive form. These professional assistants perceive signs of development delay more efficiently and early, so that it is possible to carry out appropriate follow-up for the intervention. Keywords: Autism. Public Health. Occupational Therapy. Early Diagnosis Resumen Objetivo: Investigar el conocimiento de los profesionales que trabajan en la red de salud publica de las Unidades Basicas de Salud (BHU) en la ciudad de (informacion suprimida) sobre el reconocimiento de signos de autismo en ninos de hasta 03 anos. En este servicio, se realiza un monitoreo y evaluacion mensual del desarrollo infantil. Metodos : estudio transversal cuantitativo, se utilizo un cuestionario autoadministrado basado en las Directrices para la atencion a la rehabilitacion de la persona con trastornos del espectro autista y la recopilacion de datos sociodemograficos. Participaron 22 profesionales, incluyendo: medicos generales, pediatras y enfermeras de 09 BHU en el perimetro urbano de la ciudad. Resultados: Ningun profesional tiene capacitacion en autismo, pero mostro interes en la capacitacion en el area, los participantes tambien tuvieron dificultades para identificar las senales de advertencia para el autismo y la observacion del desarrollo tipico del nino en las consultas de cuidado infantil. Los datos sugieren la necesidad de una mejor preparacion de los profesionales de atencion primaria para reconocer los signos de autismo. Conclusion: Programas de educacion continua que contemplan el desarrollo infantil en su forma mas integral. Estos asistentes profesionales perciben signos de retraso en el desarrollo de manera mas eficiente y temprana, por lo que es posible llevar a cabo un seguimiento adecuado de la intervencion. Palabras llave: Autismo. Salud publica. Terapia Ocupacional. Diagnostico Temprano

Mucolipidoses (MLs) II and III are rare lysosomal diseases caused by deficiency of GlcNAc-1-phosphotransferase, and clinical manifestations are multisystemic. Clinical and demographic data from 1983 to 2013 were obtained retrospectively. Twenty-seven patients were included (ML II = 15, ML III α/beta = 9, ML III gamma = 3). The median age at diagnosis was 2.7 years. The predominant clinical presentations were skeletal symptoms. The ML II patients showed physical and cognitive impairment, while the ML III α/beta patients have more somatic abnormalities and usually were delayed in early development as compared with ML III gamma patients. This is the most comprehensive study exploring characteristics of Brazilian patients with MLs II and III.

ResumoDurante a gestação, os pais idealizam a imagem de um filho perfeito, mas por complicações alguns são internados na Unidade de Tratamento Intensivo Neonatal (UTIN). As causas são variadas, podendo ser decorrentes de complicações pré, peri e pós-natal. O objetivo deste estudo foi compreender a participação do pai no cuidado e no acompanhamento de bebês internados na UTIN. Trata-se de um estudo de caráter qualitativo, descritivo e exploratório, para investigar a participação do pai no cuidado e acompanhamento das crianças internadas. Foi utilizado um questionário aberto com sete questões. As entrevistas foram gravadas e transcritas na íntegra. Os resultados foram analisados segundo análise de conteúdo de Bardin. Os resultados evidenciaram que os pais vivenciam fortemente os efeitos da internação do filho, com sentimentos complexos como frustração, impotência, medo do desconhecido e preocupação com a mãe. Contrariando a hipótese do estudo, os pais se sentiram acolhidos pela equipe da UTIN e foram participantes ativos nas decisões e cuidados com o bebê. Os resultados indicam que os pais têm consciência e buscam realizar seus papéis de cuidador da criança e como cônjuge de forma participativa. Concluiu-se que o processo de humanização dos hospitais que acolhem as famílias nas UTIN tem sido muito importante para que os pais consigam superar as dificuldades relacionadas à internação do bebê, ainda mais quando há apoio e suporte da equipe. Abstract During the pregnancy the parents idealize the image of a perfect child, but due to complications some of them are hospitalized in the Neonatal Intensive Care Unit (NICU). The causes are varied, stemming from pre, peri and postnatal complications. The goal of this study was to comprehend the father’s participation in the care and monitoring of babies interned in the NICU. It is a study of qualitative, descriptive and exploratory nature, to investigate the participation of the father in the care and monitoring of interned babies. An open questionnaire with seven questions was utilized for the interviews, which were recorded and transcribed; the results were analyzed according to Bardin’s content analysis. The results made evident that the fathers experience intensely the effects of the child’s hospitalization with complex feelings ranging from frustration, impotence, fear of the unknown and concern with the mother. In contrast to the hypothesis of the study, the fathers felt welcomed by the NICU team and active participants in the decisions and cares regarding the baby. Results indicate that the fathers are aware and aim to fulfill their roles as the baby’s caretaker and of partner in active fashion. It was concluded that the humanization process of the hospitals that foster the families into the NICU has been important for the fathers to overcome the difficulties related to the baby’s hospitalization, seeing help and support in the team.Keywords: Humanization; Paternity; Neonatal Intensive Care Unit.

Mucolipidosis type III (MLIII) gamma is a rare inherited lysosomal storage disorder caused by mutations in GNPTG encoding the γ-subunit of GlcNAc-1-phosphotransferase, the key enzyme ensuring proper intracellular location of multiple lysosomal enzymes. Patients with MLIII gamma typically present with osteoarthritis and joint stiffness, suggesting cartilage involvement. Using Gnptg knockout (Gnptgko) mice as a model of the human disease, we showed that missorting of a number of lysosomal enzymes is associated with intracellular accumulation of chondroitin sulfate in Gnptgko chondrocytes and their impaired differentiation, as well as with altered microstructure of the cartilage extracellular matrix (ECM). We also demonstrated distinct functional and structural properties of the Achilles tendons isolated from Gnptgko and Gnptab knock-in (Gnptabki) mice, the latter displaying a more severe phenotype resembling mucolipidosis type II (MLII) in humans. Together with comparative analyses of joint mobility in MLII and MLIII patients, these findings provide a basis for better understanding of the molecular reasons leading to joint pathology in these patients. Our data suggest that lack of GlcNAc-1-phosphotransferase activity due to defects in the γ-subunit causes structural changes within the ECM of connective and mechanosensitive tissues, such as cartilage and tendon, and eventually results in functional joint abnormalities typically observed in MLIII gamma patients. This idea was supported by a deficit of the limb motor function in Gnptgko mice challenged on a rotarod under fatigue-associated conditions, suggesting that the impaired motor performance of Gnptgko mice was caused by fatigue and/or pain at the joint. This article has an associated First Person interview with the first author of the paper., Summary: Analyses of Gnptg knockout mice indicate that functional joint abnormalities observed in mucolipidosis type III gamma patients are caused by imbalanced metabolism, leading to structural extracellular matrix changes in cartilage and tendons.

Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the γ-subunit of GlcNAc-1-phosphotransferase that catalyzes mannose 6-phosphate targeting signal synthesis on soluble lysosomal enzymes. ML III gamma patients are characterized by missorting of lysosomal enzymes. In this report, we describe the probable occurrence of mRNA editing in two ML III gamma patients. Patients A and B (siblings) presented at the adult age with a typical clinical picture of ML III gamma, mainly compromising bone and joints, and high levels of lysosomal enzymes in plasma and low levels in fibroblasts. Both were found to be homozygous for c.-112C>G and c.328G>T (p.Glu110Ter) mutations in genomic DNA (gDNA) analysis of GNPTG. Analysis of complementary DNA (cDNA), however, showed normal genotypes for both patients. Low GNPTG mRNA expression was observed in both patients. The mRNA editing can explain the differences found in patients A and B regarding gDNA and cDNA analysis, and the mild clinical phenotype associated with homozygosity for a nonsense mutation. Our results suggest that mRNA editing can be more frequent than expected in monogenic disorders and that GNPTG analysis should be performed on gDNA.

O terapeuta ocupacional é o profissional que estuda a ocupação humana, intervindo no desempenho das habilidades físicas, mentais, sociais e ambientais de cada indivíduo, a fim de proporcionar a participação deste nas atividades em casa, na escola e no trabalho. O brincar favorece a intervenção terapêutica e está presente em diversos contextos da vida das crianças e adolescentes, inclusive no contexto de uma praça adaptada. Desta forma, este estudo tem como objetivo verificar a percepção de profissionais de um centro de reabilitação de crianças e adolescentes com deficiência, e estagiários de Terapia Ocupacional, sobre a utilização de uma praça adaptada como um recurso terapêutico e de recreação. Para isto, identificou-se uma amostra composta por 20 sujeitos, de ambos os sexos. Foram utilizados dois questionários semiestruturados para coleta dos dados, ambos com a mesma finalidade, porém com linguagens adaptadas a cada área de atuação. A partir disto, constatou-se idade média de 33 anos, e diferenças nas respostas dos profissionais e estagiários em relação as atividades e objetivos propostos na praça adaptada, bem como na identificação desta como um recurso terapêutico. Todos os pesquisados qualificaram a praça como importante para instituição. Este estudo identificou que a praça adaptada é um ambiente utilizado como recurso terapêutico/pedagógico pelos sujeitos, porém, ainda é uma área inovadora para a Terapia Ocupacional, a qual busca aprimorar o desempenho ocupacional dos indivíduos. No entanto, são necessários novos estudos que possam auxiliar na fidedignidade destes resultados, e evidenciar as possibilidades de atuação do terapeuta ocupacional neste âmbito. Abstract An occupational therapist is a professional who studies human occupation by intervening in the performance of physical, mental, social and environmental skills of each subject in order to provide their participation in activities at home, at school and at work. The act of playing helps therapeutic treatment and it is in several contexts of children’s and teenagers’ lives including the context of an adapted square. Based on that, this study aims to check the professionals’ and Occupational Therapy trainees’ perception about the use of an adapted square as a therapeutic and recreational resource in a rehabilitation center for disabled children and teenagers. A sample with twenty subjects, both men and women, was used. Two semi-structured questionnaires were used for data collection. Both of them had the same aims but they had adapted language to each area of work. The professionals and trainees were thirty-three years old on average. There were differences in the professionals’ and trainees’ answers about the activities and aims proposed for the adapted square and if it really was a therapeutic resource. Every researcher agreed that the square was important to the institution. This study identified that the adapted square is a place used by the subjects as a therapeutic/teaching resource. However, it is a new area in Occupational Therapy which aims to improve the individual occupational performance. New studies are necessary to help the results of this work emphasizing the occupational therapists’ work possibilities in this area.Key words: Resource, Occupational Performance, Occupational Therapy.

A gestação é um fenômeno biologicamente natural e é considerada de alto risco quando há maior perigo para a saúde da mãe e do feto, devido a alguma doença materna. O objetivo deste trabalho foi desenvolver e aplicar um manual de orientações e cuidados às gestantes de alto risco, identificando sua influência no desempenho ocupacional e estresse. Consiste em estudo transversal, de acompanhamento com avaliação antes e depois. Utilizou-se a Medida Canadense de Desempenho Ocupacional (COPM) e a Escala de Estresse Percebido (PPS-10). A amostra do estudo foi composta por onze gestantes de alto risco internadas. A COPM identificou 2,9 pontos para a área de Desempenho e 2,7 pontos para área de Satisfação com o desempenho na primeira avaliação e 4 pontos e 4,2, respectivamente, na segunda avaliação após a aplicação do Manual de Orientações. A PPS-10 indicou 21 pontos na primeira avaliação e 17,9 pontos na reavaliação. Nesse sentido, acredita-se que grupos de apoio às gestantes, estabelecendo espaços de diálogo e escuta, permitem a construção de alternativas para enfrentamento das dificuldades advindas da internação. Gestation is a natural biological phenomenon, and it is considered of high-risk when there is increased danger for the health of the mother and fetus due to some maternal disease. The purpose of this work was to develop and implement a manual for guidance and care of high-risk pregnant women, identifying its influence on occupational performance and stress. This is a cross-sectional study whit follow-up evaluation before and after. The Canadian Occupational Performance Measure (COPM) and the Perceived Stress Scale (PPS-10) were used. The study sample comprised 11 inpatient high-risk pregnant women. The COPM identified 2.9 points for the Performance area and 2.7 points for the Performance satisfaction area in the first evaluation, and 4 and 4.2 points, respectively, in the second evaluation after the application of the Guidance Manual. The PPS-10 indicated 21 points in the first evaluation and 17.9 points in the revaluation. In this context, it is believed that support groups for pregnant women, establishing spaces for dialogue and listening, allow the construction of alternatives for facing the difficulties resulted from hospitalization.

A equoterapia vem sendo utilizada como tratamento reabilitador em diferentes patologias, no entanto, sua eficácia ainda não é comprovada no que tange ao desempenho funcional de indivíduos com autismo. O objetivo deste estudo é identificar o efeito da equoterapia no desempenho funcional de crianças e adolescentes com autismo comparando praticantes e não praticantes. Participaram do estudo indivíduos com autismo com idades entre 3 e 15 anos, ambos os sexos divididos entre Praticantes e Não Praticantes, emparelhados por gênero e idade. Utilizou-se um questionário para avaliar variáveis socioeconômicas e para avaliação do desempenho funcional o Inventário de Avaliação Pediátrica de Incapacidade (PEDI) e a Medida de Independência Funcional (MIF), aplicados aos cuidadores, para 8 anos, respectivamente. Foram entrevistados 28 cuidadores (14 em cada grupo). Houve diferença para o desempenho funcional das crianças que praticavam equoterapia avaliados pelo PEDI na área de Autocuidado (p=0,041) e Mobilidade (p=0,001). Não houve diferença para o desempenho funcional daqueles avaliados pela MIF (p=0,384). Este estudo sugere que a equoterapia é eficaz para crianças com autismo, nas tarefas das áreas de mobilidade e autocuidado, sendo uma área inovadora para terapia ocupacional.

Introduction The mucopolysaccharidoses (MPS) are rare genetic disorders caused by a deficiency in lysosomal enzymes that affect the catabolism of glycosaminoglycans and cause their accumulation, resulting in a multisystemic clinical picture. Their clinical manifestations result in limited ability to perform daily life tasks. Objectives To evaluate functional capacity and joint range of motion (ROM) in patients with MPS followed at the reference center for lysosomal disorders at Hospital de Clinicas de Porto Alegre, Brazil. Methods This was a prospective longitudinal study with a convenience sample. The Pediatric Evaluation of Disability Inventory (PEDI) and the Functional Independence Measure (FIM) were used to evaluate functionality and goniometry was used to evaluate ROM at three times (baseline, 6 months, and 12 months after study inclusion). An exploratory analysis was done of the effect of enzyme replacement therapy (ERT) in both variables; thus, patients were divided into Group 1 (patients without ERT), Group 2 (patients on ERT before and after study inclusion), and Group 3 (patients who started ERT after study inclusion). Results 21 patients were included: 7 in Group 1 (MPS II: 3, MPS III-B: 2, MPS IV-A: 2), 6 in Group 2 (MPS I: 3; MPS VI: 3), and 8 in Group 3 (MPS I: 3, MPS II: 4, MPS VI: 1). A limitation in the mobility of all joints studied was found especially in MPS I, II, and VI. Functionality compromise was also frequent (PEDI=5/7 patients; MIF=9/14 patients), even in individuals with preserved cognition. No correlation was found between the findings of goniometry and the PEDI domains (self-care, mobility, social function). ERT did not seem to significantly change the parameters analyzed. Discussion/conclusion The compromise of joint mobility and functionality seems to be common in MPS I, II, III-B, IV-A, and VI. This finding is in line with the fact that, although these types of MPS are caused by different genetic defects, they share metabolic routes and physiopathogenic processes and present similar clinical manifestations. The preservation of functionality is an increasing challenge in the treatment of MPS patients, and maintenance of occupational performance should be defined as an objective to be reached by therapies used. Further studies with a greater sample size are necessary in order to verify the effect of ERT in these variables.

O objetivo deste estudo é avaliar a qualidade de vida, estresse e o desempenho ocupacional de mães cuidadores de crianças e adolescentes com diagnóstico de autismo. Para a pesquisa, foram utilizados quatro instrumentos: WHOQOL-Bref, a Escala de Estresse Percebido, a Medida Canadense de Desempenho Ocupacional e um questionário criado pela pesquisadora contendo dados socioeconômicos e sobre a criança/adolescente. Os dados do estudo sugerem que existe correlação entre as variáveis e que as mães cuidadoras possuem menor qualidade de vida, altos níveis de estresse e desempenho ocupacional baixo. The objective of this study is to evaluate the quality of life, stress, and occupational performance of caregiver mothers of children and adolescents diagnosed with autism. For the research, four instruments were used: WHOQOL-Bref, the Perceived Stress Scale, the Canadian Occupational Performance Measure and a questionnaire created by the researcher containing socioeconomic data and information about the child/adolescent. The study data suggest that there is a correlation between the variables and that caregiver mothers have a lower quality of life, high levels of stress, and low occupational performance.

Background Botulinum toxin type A (btxA) is one of the main treatment choices for patients with spasticity. Prosigne® a new released botulinum toxin serotype A may have the same effectiveness as Botox® in focal dystonia. However, there are no randomized clinical trials comparing these formulations in spasticity treatment. The aim of our study was to compare the efficacy and safety of Prosigne® with Botox® in the treatment of spasticity. Methodology/Principal Findings We performed a double-blind, randomized, crossover study consisting of 57 patients with clinically meaningful spasticity. The patients were assessed at baseline, 4 and 12 weeks after Prosigne® or Botox® administration. The main outcomes were changes in the patients’ Modified Ashworth Scale (MAS), Functional Independence Measure (FIM) and Pediatric Evaluation of Disability Inventory (PEDI) scores and adverse effects related to the botulinum toxin. Both of the toxins were significantly effective in relieving the level of spasticity in adults and children. There were no significant differences found between the Prosigne® and Botox® treatments regarding their MAS, FIM and PEDI scores. Likewise, the incidence of adverse effects was similar between the two groups. Conclusion Our results suggest that Prosigne® and Botox® are both efficient and comparable with respect to their efficacy and safety for the three month treatment of spasticity. Trial Registration ClinicalTrials.gov NCT00819065.