The 22q11.2 Deletion Syndrome from A Biopsychosocial Perspective: A Series of Cases with an ICF-Based Approach.

The 22q11.2 deletion syndrome (DS) can have a significant impact on functionality. The purpose was to describe 22q11.2DS children with functioning from a biopsychosocial perspective, focusing on the impact of children's health condition from domains of the International Classification of Functioning, Disability, and Health (ICF). METHODS: A descriptive, cross-sectional case series study with seven 22q11.2DS children. A questionnaire with an ICF checklist for 22q11.2DS was completed using a structured interview. The Wechsler Abbreviated Scale of Intelligence (WASI) was used to determine the Intelligence Quotient (IQ). RESULTS: Seven participants from 7 to 12 years old, presented some level of IQ impairment. It was observed that 22q11.2DS children experience significant intellectual, cognitive, and speech impairments across ICF Body Function domains. Impairments related to nose and pharynx were found in only one patient. The most relevant categories considered limitations in the Activity and Participation components pertained to producing nonverbal messages, communication, handling stress, and social interaction. Family, health professionals, and acquaintances were perceived as facilitators in the component Environmental Factors. CONCLUSION: The sample has its functioning affected by aspects that go beyond impairments in body structure and function. The organization of information from the perspective of the ICF is a different approach that helps clinical reasoning.

Acquired Hip Dysplasia in Children with Congenital Zika Virus Infection in the First Four Years of Life.

Acquired hip dysplasia has been described in children with cerebral palsy (CP); periodic surveillance is recommended in this population to prevent hip displacement and dislocation. Children with congenital zika syndrome (CZS) may present a spectrum of neurological impairments with changes in tonus, posture, and movement similar to children with CP. However, the relationship between CZS and hip dysplasia has not been characterized. In this prospective cohort study, we aimed to describe the occurrence of hip dysplasia in patients with CZS. Sixty-four children with CZS from 6 to 48 months of age were included and followed at a tertiary referral center in Rio de Janeiro, Brazil, with periodic radiologic and clinical hip assessments. Twenty-six (41%) patients were diagnosed with hip dysplasia during follow-up; mean age at diagnosis was 23 months. According to the Gross Motor Function Classification System (GMFCS), 58 (91%) patients had severe impairment (GMFCS IV and V) at the first evaluation. All patients with progression to hip dysplasia had microcephaly and were classified as GMFCS IV or V. Pain and functional limitation were reported by 22 (84%) caregivers of children with hip dysplasia. All patients were referred to specialized orthopedic care; eight (31%) underwent surgical treatment during follow-up. Our findings highlight the importance of implementing a hip surveillance program and improving access to orthopedic treatment for children with CZS in order to decrease the chances of dysplasia-related complications and improve quality of life.

Characterizing Disabilities in Preschool Aged Children with Congenital Zika Virus Syndrome with the ICF Model.

Understanding functioning and disabilities in children with Congenital Zika Syndrome (CZS) is essential for health planning. We describe disabilities present in children with CZS followed in a reference hospital in Rio de Janeiro, Brazil, based on the biopsychosocial model of the International Classification of Functioning, Disability and Health (ICF). This was a cohort study of children >3 years of age with CZS. Disability was characterized through outcomes related to ICF components assessed via clinical and motor development evaluations. Among 50 children, with a median age of 40 months, 47 (94%) presented with severe impairment and 46 (92%) had microcephaly. Damage to the head and neck was found in most children, with abnormal central nervous system imaging universally present. Most children had cognitive impairment (92%), muscle tone problems (90%), and speech deficits (94%). We found movement limitations in all categories but more pervasively (80−94%), in postural transfers and displacements. The main environmental factors identified in the ICF model were the use of products or substances for personal consumption and access to health services. Children with CZS have extremely high rates of disability beyond aged 3 years, particularly regarding motor activity. ICF-based models can contribute to the assessment of health domains.

General, verbal, and non-verbal cognitive functioning of children and adolescents with 22q11-2 deletion syndrome / Funcionamento cognitivo geral, verbal e não verbal de crianças e adolescentes com síndrome de deleção 22q11-2

BACKGROUND: Cognitive dysfunctions are frequently found in the 22q11.2 Deletion Syndrome, being an aggravating factor in the impairment of social relationships and communication, strongly impacting the functionality of the individual. Increasing the knowledge regarding cognitive skills may provide contributions to the diagnostic process and the intervention planning. OBJECTIVES: To estimate the general, verbal, and non-verbal cognitive functioning of children and adolescents with 22q11.2 Deletion Syndrome. METHODS: This is a cross-sectional, descriptive, and case series study regarding 15 individuals between 7-18 years-old diagnosed with 22q11.2 Deletion Syndrome. An assessment of the cognitive functions was performed using the Wechsler Abbreviated Scale of Intelligence (WASI). For data analysis we used a descriptive statistics analysis, having absolute frequencies for variables, and mean, median, standard deviation, minimum and maximum values for numerical variables. RESULTS: In the group analysis, we observed an important cognitive impairment degree. Most of the sampling (n=8; 53.33%) presented a considerably low total intelligence quotient score. Cases showing lower performances also presented greater difficulties regarding Visual Motor and Visuospatial coordination. Regarding the intelligence quotient representative punctuation in the WASI scale, the sample showed a large variability in the results (between 40 and 92 points), with the median total of 83. CONCLUSIONS: We observed important dysfunctions, cognitive difficulties, and intellectual, verbal, and non-verbal disabilities in the population studied. These findings indicate the need for an early intervention to assist not only the cognitive aspect, but also the socio-emotional development of children with the 22q11.2 Deletion Syndrome, aiming at their participation in society.

FUNDAMENTO: Disfunções cognitivas são frequentemente encontradas na Síndrome de Deleção 22q11.2, sendo um agravante no comprometimento das relações sociais e da comunicação, impactando fortemente na funcionalidade do indivíduo. O aumento do conhecimento sobre as habilidades cognitivas pode trazer contribuições no processo diagnóstico e no planejamento da intervenção. OBJETIVO: Estimar o funcionamento cognitivo geral, verbal e não verbal de crianças e adolescentes com Síndrome de Deleção 22q11.2. MÉTODOS: Estudo transversal, descritivo, tipo série de casos, com 15 indivíduos entre 7-18 anos com diagnóstico da Síndrome de Deleção 22q11.2. A avaliação das habilidades cognitivas foi realizada com a Escala Wechsler Abreviada de Inteligência (WASI). Para análise dos dados, foi utilizada análise estatística descritiva, com frequências absolutas para variáveis, e média, mediana, desvio padrão, mínima e máximo para variáveis numéricas. RESULTADOS: Na análise do grupo, observou-se um importante grau de comprometimento cognitivo. A maior parte da amostra (n=8; 53,33%) mostrou quociente de inteligência total extremamente baixo. Os casos com desempenhos mais baixos apresentaram maiores dificuldades em relação às habilidades de coordenação visuomotora e visuoespacial. Em relação à pontuação representativa do quociente de inteligência na escala WASI, a amostra apresentou uma grande variabilidade de resultados (entre 40 a 92 pontos), com mediana total de 83 pontos. CONCLUSÕES: As dificuldades cognitivas encontradas indicam a necessidade de uma intervenção precoce para auxiliar não só no desenvolvimento cognitivo, mas socioemocional de crianças com a Síndrome de Deleção 22q11.2 visando sua participação na sociedade.

Anthropometric Parameters of Children with Congenital Zika Virus Exposure in the First Three Years of Life.

Little is known about the impact of congenital Zika virus (ZIKV) exposure on growth in the first years of life. In this prospective cohort study,201 ZIKV antenatally-exposed children were followed at a tertiary referral center in Rio de Janeiro, Brazil. Eighty-seven were classified as congenital Zika syndrome (CZS) patients and 114 as not congenital Zika syndrome (NCZS); growth parameters were described and compared between groups and with WHO standard growth curves. Thirty-four (39%) newborns with CZS and seven (6%) NCZS were small for gestational age (p < 0.001). NCZS mean weight measures ranged from −0.45 ± 0.1 to 0.27 ± 0.2 standard deviations (SD) from the WHO growth curve median during follow-up, versus −1.84 ± 0.2 to −2.15 ± 0.2 SD for the CZS group (p < 0.001). Length mean z-scores varied from −0.3 ± 0.1 at 1 month to 0.17 ± 0.2 SD between 31 and 36 months in the NCZS group, versus −2.3 ± 0.3 to −2.0 ± 0.17 SD in the CZS group (p < 0.001). Weight/height (W/H) and BMI z-scores reached -1.45 ± 0.2 SD in CZS patients between 31 and 36 months, versus 0.23 ± 0.2 SD in the NCZS group (p < 0.01). Between 25 and 36 months of age, more than 50% of the 70 evaluated CZS children were below weight and height limits; 36 (37.1%) were below the W/H cut-off. Gastrostomy was performed in 23 (26%) children with CZS. During the first three years of life, CZS patients had severe and early growth deficits, while growth of NCZS children was normal by WHO standards.

Ligação de um instrumento de avaliação clínica de exposição ao vírus Zika com a Classificação Internacional de Funcionalidade, Incapacidade e Saúde / Linking a clinical assessment instrument for Zika virus exposure with the International Classification of Functioning, Disability and Health

Instrumentos de avaliação clínica foram criados a partir de experiências prévias de cuidados para outras condições crônicas complexas da infância, de modo a planejar e sistematizar ações. Contudo, é importante que tais instrumentos tenham validação externa e contemplem o atual conceito de saúde biopsicossocial. Uma interlocução com a Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF) poderia dar subsídio teórico e validação aos instrumentos criados. Objetivo: Identificar o conteúdo comum da CIF com o instrumento de avaliação clínica aplicado em população exposta ao vírus Zika em um ambulatório de doenças infecciosas em pediatria de um hospital de referência no Estado do Rio de Janeiro. Métodos: A Ligação com a CIF foi realizada por dois revisores independentes, segundo a proposta de Cieza e colaboradores. O coeficiente Kappa foi utilizado para análise da concordância interobservadores. Resultados: O instrumento de avaliação clínica utilizado no ambulatório de referência é composto principalmente por categorias da CIF de estruturas do corpo (46,4%). Observou-se poucas categorias relacionadas aos fatores contextuais (13,1%). E, não foram encontrados itens relacionados às categorias de atividade e participação. Conclusão: A ferramenta de avaliação apresenta principalmente informações sobre as funções e estruturas do corpo, voltando-se a um olhar puramente restrito as funções fisiológicas e as estruturas anatômicas. A inexistência de categorias de atividade e participação pode comprometer a percepção das experiências vividas pelas crianças que foram expostas ao vírus Zika

The Zika epidemic and the emergence of a new health condition in Brazil, imposed a rapid organization on services to meet the current demand for care. Clinical assessment instruments were created, based on previous care experiences for other complex chronic conditions in order to plan and systematize actions. However, it is important that these instruments have external validation and include the current concept of health, biopsychosocial. An interlocution with the International Classification of Functioning, Disability and Health (CIF) could provide theoretical support and validation to the instruments created. Objective: To identify the common content among the clinical evaluation instrument applied to the population exposed to the Zika virus in a pediatric infectious disease outpatient clinic in a reference hospital in the State of Rio de Janeiro with the ICF. Methods: The link with the ICF was carried out by two independent reviewers, according to Cieza's proposal and the Kappa coefficient was used for interobserver analysis. Results: It was identified that the instrument is mainly composed of items of body structure (39; 46.4%). There were few categories related to contextual factors (11; 13.1%). And there were no items related to the categories of activity and participation. Conclusion: The assessment tool presents mainly domains of function and structure of the body, turning to a biomedical look. The lack of categories of activity and participation can compromise the perception of health status. A line of care in the light of the biopsychosocial model provides advantages for health services planning and actions

Identification of relevant International Classification of Functioning Disability and Health (ICF) categories in patients with 22q11.2 Deletion Syndrome: a Delphi exercise.

PURPOSE: The aim of this study was to identify the most typical and relevant categories of the International Classification of Functioning, Disability and Health (ICF) for patients with 22q11.2 Deletion Syndrome. METHODS: Based on the Delphi technique an expert survey through e-mail was performed among health professionals' specialists in the 22q11.2DS. Data were collected in 2 rounds. Answers were analysed for the degree of consensus. RESULTS: 7 Experts recruited through e-mail distribution lists of professional organizations and personal networks participated in the study. Categories in all ICF components that were considered typical and/or relevant by at least 80% of the responders were added to a pilot ICF instrument for children with 22q11.2DS, with a total of 145 ICF categories. CONCLUSION: a list of ICF categories that are considered relevant and typical for 22q11.2DS condition by international experts was created. This is an important step towards identifying ICF Core Sets for chronic paediatric conditions in Brazil.

Identification of relevant international Classification of Functioning Disability and Health (ICF) categories in patients with 22q11. 2 Deletion Syndrome: a Delphi exercise

ABSTRACT Purpose: The aim of this study was to identify the most typical and relevant categories of the International Classification of Functioning, Disability and Health (ICF) for patients with 22q11.2 Deletion Syndrome. Methods: Based on the Delphi technique an expert survey through e-mail was performed among health professionals' specialists in the 22q11.2DS. Data were collected in 2 rounds. Answers were analysed for the degree of consensus. Results: 7 Experts recruited through e-mail distribution lists of professional organizations and personal networks participated in the study. Categories in all ICF components that were considered typical and/or relevant by at least 80% of the responders were added to a pilot ICF instrument for children with 22q11.2DS, with a total of 145 ICF categories. Conclusion: a list of ICF categories that are considered relevant and typical for 22q11.2DS condition by international experts was created. This is an important step towards identifying ICF Core Sets for chronic paediatric conditions in Brazil.

Association Between Neonatal Neuroimaging and Clinical Outcomes in Zika-Exposed Infants From Rio de Janeiro, Brazil.

Importance: Congenital Zika virus (ZIKV) infection may present with a spectrum of clinical and neuroradiographic findings. Objective: To determine whether neuroimaging findings for infants with a history of ZIKV exposure are associated with infant clinical outcomes and gestational age at antenatal ZIKV infection. Design, Setting, and Participants: This cohort study retrospectively reviewed neuroimaging results (computed tomography and/or magnetic resonance imaging scans) of 110 ZIKV-exposed infants from a maternity and children's hospital in Rio de Janeiro, Brazil, following the 2015 to 2016 ZIKV epidemic. Neuroimaging from March 1, 2016, to June 30, 2017, was evaluated to determine whether findings were associated with clinical outcomes and the timing of maternal ZIKV infection. Data were analyzed from July 1, 2017, to August 30, 2018. Exposures: Neuroimaging (computed tomography and/or magnetic resonance imaging) was performed on ZIKV-exposed infants after birth. Blood and/or urine specimens from mothers and infants were tested for ZIKV by polymerase chain reaction assay. Main Outcomes and Measures: Neuroimaging studies were evaluated for structural abnormalities and other forms of brain injury. Results: A total of 110 infants with a mean (SD) gestational age of 38.4 (2.1) weeks had neuroimaging and clinical outcome data reviewed. Of these, 71 (65%) had abnormal neuroimaging findings, with the majority (96%) classified as having severe ZIKV infection at birth. The most common neuroimaging abnormalities were structural abnormalities including brain calcifications, especially at the cortico-subcortical white matter junction, cortex malformations, ventriculomegaly, and reduced brain volumes, followed by brainstem hypoplasia, cerebellar hypoplasia, and corpus callosum abnormalities. Frequency of abnormal imaging was higher in infants with specific clinical findings as opposed to those without them; these findings included fetal brain disruption sequence (100% vs 35%), microcephaly (100% vs 30%), congenital contractures (100% vs 58%), ophthalmologic abnormalities (95% vs 44%), hearing abnormalities (100% vs 58%), and neurologic symptoms (94% vs 10%). Four of 39 infants (10%) without initial evidence of severe ZIKV infection and normal findings on neurologic evaluation at birth had abnormal neuroimaging findings. Neuroimaging abnormalities differed by trimester of maternal ZIKV infection, with 63% of infants born to mothers infected in the first trimester, 13% of infants born to mothers infected in the second trimester, and 1% of infants born to mothers infected in the third trimester exhibiting neuroimaging abnormalities. The odds of abnormal neuroimaging were 7.9 times greater for infants with first trimester ZIKV exposure compared with other trimesters combined (odds ratio, 7.9; 95% CI, 3.0-20.4; P < .001). Conclusions and Relevance: Neuroimaging abnormalities of computed tomography and/or magnetic resonance imaging scans were common in ZIKV-exposed infants. While neuroimaging abnormalities were seen in 10% of infants without clinically severe ZIKV, most occurred almost exclusively among those with clinically severe ZIKV, especially among those with a history of ZIKV exposure in the first trimester.

A CIF-CJ para crianças e adolescentes com osteogênese imperfeita: a perspectiva de especialistas / The ICF-CY for children and adolescents with osteogenesis imperfecta: the perspective of specialists

Objetivo: A partir da perspectiva de especialistas em Osteogênese Imperfeita (OI), identificar as categorias da Classificação Internacional de Funcionalidade, Incapacidade e Saúde- versão crianças e jovens (CIF-CJ) mais relevantes para avaliação de pacientes. Métodos: Três etapas de questionários enviados por correio eletrônico para cinco especialistas em OI utilizando o método Delphi modificado. Os participantes escolheram a partir de uma lista de categorias de segundo nível da CIF-CJ, as mais relevantes para avaliação da funcionalidade em crianças e adolescentes com OI. Ao final da terceira etapa, foram selecionadas as categorias escolhidas por no mínimo 80% dos respondentes. Resultados: Todos os componentes atingiram categorias com consenso. Os componentes com maior número de categorias escolhidas foram Atividades e Participação e Fatores Ambientais. Conclusão: Uma lista de categorias da CIF-CJ relevantes para OI pôde ser elaborada a partir da perspectiva de especialistas. Esta é uma importante etapa na elucidação do que deve ser avaliado em crianças e adolescentes com OI

Objective: From the perspective of specialists in Osteogenesis Imperfecta (OI), to identify the most relevant categories of the International Classification of Functioning, Disability, and Health: children and youth version (ICF-CY) to patients. Methods: Three-stage surveys were sent by email to five OI specialists using the modified Delphi method. From a list of second-level ICFCY categories, the participants chose the most relevant categories to assess the functioning of children and adolescents with OI. At the end of the third stage, the categories considered relevant by at least 80% of the responders were selected. Results: Categorizations of all ICF-CY components were agreed upon. Activities, Participation, and Environmental Factors were the categories with the most components. Conclusion: A list of ICF-CY categories relevant to OI could be created from the perspective of specialists. This is an important step to highlight what to assess in children and adolescents with OI

Prevalência de instabilidade atlantoaxial e sua associação com sinais clínicos em crianças com síndrome de down / Prevalence of atlanto-axial instability and its association with clinical signs in children with down syndrome

A change in the atlanto-axial alignment in children with Down syndrome may be associated with pain, neurological disorders, high spinal cord compression and sudden death OBJECTIVE: To determine the prevalence of atlanto-axial instability in children with Down syndrome and its association with the presence of signs and symptoms of atlanto-axial instability METHODS: A cross-sectional study evaluated 21 children with Down syndrome aged between 3 and 5 years. Children who had undergone cervical spine surgery or who had diseases not associated with this syndrome were excluded. Sex, age, ethnicity of the child and the presence of signs suggestive of atlanto-axial instability, as reported by caregivers, such as neck pain, difficulty walking, weakness in the lower limbs, fatigue, difficulty with balance, urinary and fecal incontinence and projectile vomiting were studied. Children underwent a cervical spine X-ray in the lateral view in three positions: neutral, flexion and extension. When the atlas-odontoid distance was equal to or greater than 4.5 mm, atlanto-axial instability was diagnosed RESULTS: The prevalence of atlanto-axial instability in the studied population was 9.5%. There was no significant association revealed in the chi-square test between the signs suggestive of atlanto-axial instability and the presence of atlanto-axial instability (p >0.05) CONCLUSIONS: Atlanto-axial instability is possibly not associated with its suggestive signs.

A alteração no alinhamento atlantoaxial em crianças com síndrome de Down pode estar associada à dor, transtornos neurológicos, compressão medular alta e até à morte súbita OBJETIVO: Determinar a prevalência de instabilidade atlantoaxial em crianças com síndrome de Down e verificar a associação entre a instabilidade atlantoaxial e a presença de sinais e sintomas desta alteração MÉTODO: Estudo transversal que avaliou 21 crianças com síndrome de Down com idade entre 3 e 5 anos. Não foram incluídas crianças que realizaram cirurgia cervical e com patologias não associadas à síndrome. Foram investigados sexo, idade e raça da criança e a presença de sinais sugestivos de instabilidade atlantoaxial segundo relato dos cuidadores, como dor no pescoço, dificuldade de andar, fraqueza em membros inferiores, cansaço, dificuldade de equilíbrio, incontinência fecal e urinaria e vômito em jato. As crianças foram submetidas à radiografia da coluna cervical em perfil em três posições: neutro, flexão e extensão, sendo considerada instabilidade atlantoaxial quando a distância atlas-odontoide era igual ou maior que 4,5 milímetros RESULTADOS: A prevalência de instabilidade atlantoaxial na população estudada foi de 9,5%. Não foi verificada, pelo teste Qui-quadrado, associação estatisticamente significativa entre os sinais sugestivos e a presença de instabilidade atlantoaxial (p-valor>0,05) CONCLUSÃO: A instabilidade atlantoaxial possivelmente não tem associação com os seus sinais sugestivos.

Assistência fisioterapêutica na atenção primária à saúde infantil: uma revisão das experiências / Physical therapy in pediatric primary care: a review of experiences

OBJETIVO: Revisar as experiências de atenção fisioterapêutica dirigidas à população pediátrica descritas na literatura e analisar a produção de conhecimento sobre fisioterapia no contexto da atenção primária à saúde infantil (APSI). MÉTODOS: Foi realizada uma revisão sistemática conforme PRISMA, com busca nas seguintes bases de dados: MEDLINE, LILACS, SciELO, PubMed, Scopus, Cochrane; banco de teses da CAPES; e System for Information on Grey Literature in Europe (SIGLE). Foram utilizados os descritores "atenção primária à saúde", "fisioterapia", "lactente ou criança" e seus correspondentes na língua inglesa e espanhola, sem restrição de ano de publicação. RESULTADOS: Analisamos 13 artigos de seis países, reunidos em três eixos temáticos: dilemas profissionais (três artigos), competências e habilidades específicas para a APSI (sete artigos) e relatos de prática (quatro artigos). Os dilemas profissionais mencionados foram a ampliação do papel do fisioterapeuta para incluir ambientes comunitários, compartilhando a tomada de decisão com as famílias, e o trabalho em colaboração com outros serviços de saúde para identificar as necessidades da criança. As competências e habilidades citadas foram a identificação de sintomas clínicos e socioculturais para além das condições musculoesqueléticas, o diagnóstico fisioterapêutico precoce, a prevenção contra o uso excessivo de medicamentos e a capacidade de trabalhar em equipe. Os relatos de prática discorreram sobre estimulação em crianças com quadros neurológicos, tratamento respiratório e grupos com mães de crianças com esses acometimentos. CONCLUSÕES: O baixo número de estudos sugere desconhecimento quanto ao modo como a fisioterapia se insere na APSI e, provavelmente, quanto às habilidades profissionais necessárias nesse ambiente. Assim, são necessários mais estudos para fornecer dados sobre a área e um esforço de qualificação continuada por parte dos fisioterapeutas.

OBJECTIVE: To review pediatric physical therapy experiences described in the literature and to analyze the production of knowledge on physical therapy in the context of pediatric primary health care (PPHC). METHODS: A systematic review was conducted according to the PRISMA criteria. The following databases were searched: MEDLINE, LILACS, SciELO, PubMed, Scopus and Cochrane; Brazilian Ministry of Health's CAPES doctoral dissertations database; and System for Information on Grey Literature in Europe (SIGLE). The following search terms were used: ["primary health care" and ("physical therapy" or "physiotherapy") and ("child" or "infant")] and equivalent terms in Portuguese and Spanish, with no restriction on publication year. RESULTS: Thirteen articles from six countries were analyzed and grouped into three main themes: professional dilemmas (three articles), specific competencies and skills required in a PPHC setting (seven articles), and practice reports (four articles). Professional dilemmas involved expanding the role of physical therapists to encompass community environments and sharing the decision-making process with the family, as well as collaborative work with other health services to identify the needs of children. The competencies and skills mentioned in the literature related to the identification of clinical and sociocultural symptoms that go beyond musculoskeletal conditions, the establishment of early physical therapy diagnoses, prevention of overmedication, and the ability to work as team players. Practice reports addressed stimulation in children with neurological diseases, respiratory treatment, and establishing groups with mothers of children with these conditions. CONCLUSIONS: The small number of studies identified in this review suggests that there is little knowledge regarding the roles of physical therapists in PPHC and possibly regarding the professional abilities required in this setting. Therefore, further studies are required to provide data on the field, along with a continuing education effort on the part of physical therapists.

Identificação dos conceitos de medidas de desfechos de ensaios clínicos em osteogênese imperfeita utilizando a Classificação Internacional de Funcionalidade, Incapacidade e Saúde - versão crianças e jovens / Identifying the concepts in outcome measures of clinical trials on osteogenesis imperfecta using the International Classification of Functioning, Disability and Health - version for children and youth

O modelo biopsicossocial da Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF) tem sido utilizado como referência na prática clínica para identificação e análise dos componentes da funcionalidade presentes em medidas de desfechos. Objetivo: Este estudo tem como objetivos identificar os conceitos de medidas de desfecho de ensaios clínicos em Osteogênese Imperfeita, analisar como estes conceitos se relacionam com a Classificação Internacional de Funcionalidade, Incapacidade e Saúde versão crianças e jovens (CIF-CJ) e descrever quais componentes da funcionalidade mais avaliados. Método: Ensaios clínicos realizados entre 2000 e 2013 em crianças com diagnóstico de Osteogênese Imperfeita foram selecionados a partir de uma revisão nas bases de dados MedLine e Cochrane. As medidas de desfecho foram extraídas e os conceitos significativos de cada medida foram relacionados à CIF-CJ. Resultados: Foram incluídos para o estudo 14 artigos. Os conceitos de medidas clínicas e técnicas e de um instrumento de avaliação padronizado (Pediatric Evaluation of Disability Inventory - PEDI) foram identificados. Os conceitos das medidas clínicas e técnicas relacionaram-se ao componente da CIF-CJ Funções e Estruturas do Corpo. Os conceitos do PEDI relacionaram-se aos componentes Funções do Corpo e principalmente Atividade e Participação. Conclusão: Através do link dos conceitos das medidas de desfecho com a CIF-CJ foi verificado que os ensaios clínicos em OI avaliam principalmente o componente Funções e Estruturas do Corpo. As avaliações da Atividade e Participação e os fatores contextuais ainda são pouco contempladas nestes estudos havendo necessidade de novas pesquisas sobre o efeito das intervenções nestes componentes.

The biopsychosocial model from the International Classification of Functioning, Disability, and Health (ICF) has been used as a reference in clinical practice to identify and analyze the functioning components in outcome measures. Objective: The objectives of this study were to identify the concepts contained in outcome measures of clinical trials on Osteogenesis Imperfecta, to analyze how these concepts are linked with the ICF - Children and Youth version (ICF-CY) and describe what the functioning components are that are assessed in these studies. Method: Randomized controlled trials on children with diagnoses of Osteogenesis Imperfecta carried out between 2000 and 2013 were selected using MedLine and Cochrane. The outcome measures were extracted and the concepts contained in the outcome measures were linked to the ICF-CY. Results: Fourteen trials were included. The concepts of clinical and technical measures and of one health assessment instrument (Pediatric Evaluation of Disability Inventory - PEDI) were identified. The concepts of clinical and technical measures were linked to the ICF-CY Body Functions and Structures component. The PEDI concepts were linked to the Body Functions and especially to Activity and Participation. Conclusion: Using the linking of the concepts of outcome measures to the ICF-CY it was possible to verify that clinical trials on Osteogenesis Imperfecta assessed mainly the Body Functions and Body Structures component. Assessments of Activity and Participation and contextual factors are scarce on these studies. More research is necessary on the effects of interventions on these components.

[Physical therapy in pediatric primary care: a review of experiences]. / Assistência fisioterapêutica na atenção primária à saúde infantil: uma revisão das experiências.

OBJECTIVE: To review pediatric physical therapy experiences described in the literature and to analyze the production of knowledge on physical therapy in the context of pediatric primary health care (PPHC). METHODS: A systematic review was conducted according to the PRISMA criteria. The following databases were searched: MEDLINE, LILACS, SciELO, PubMed, Scopus and Cochrane; Brazilian Ministry of Health's CAPES doctoral dissertations database; and System for Information on Grey Literature in Europe (SIGLE). The following search terms were used: ["primary health care" and ("physical therapy" or "physiotherapy") and ("child" or "infant")] and equivalent terms in Portuguese and Spanish, with no restriction on publication year. RESULTS: Thirteen articles from six countries were analyzed and grouped into three main themes: professional dilemmas (three articles), specific competencies and skills required in a PPHC setting (seven articles), and practice reports (four articles). Professional dilemmas involved expanding the role of physical therapists to encompass community environments and sharing the decision-making process with the family, as well as collaborative work with other health services to identify the needs of children. The competencies and skills mentioned in the literature related to the identification of clinical and sociocultural symptoms that go beyond musculoskeletal conditions, the establishment of early physical therapy diagnoses, prevention of overmedication, and the ability to work as team players. Practice reports addressed stimulation in children with neurological diseases, respiratory treatment, and establishing groups with mothers of children with these conditions. CONCLUSIONS: The small number of studies identified in this review suggests that there is little knowledge regarding the roles of physical therapists in PPHC and possibly regarding the professional abilities required in this setting. Therefore, further studies are required to provide data on the field, along with a continuing education effort on the part of physical therapists.

[The public health care system and rehabilitation actions in Brazil]. / O sistema público de saúde e as ações de reabilitação no Brasil.

OBJECTIVE: To produce a historical account of rehabilitation actions in the context of the Brazilian Unified Health Care System (SUS). METHODS: Search of SciELO, LILACS, and MEDLINE databases for literature published between 1980 and 2009. The following Portuguese search terms were used: Sistema Unico de Saúde, reabilitação, políticas de saúde, assistência médica, história. The English terms "rehabilitation" and "public health" were also used. Federal laws and Ministry of Health manuals available at the city of Rio de Janeiro Coordinating Office for Rehabilitation Programs, Fundação Instituto Oswaldo Cruz library, and in BIREME database were also surveyed. RESULTS: Only a small number of publications were recovered (four books, three Health Ministry manuals, four articles published in Brazil, one master's thesis, and one doctoral dissertation). Nevertheless, analysis of these materials revealed that since many municipalities are still incapable of ensuring the right to universal and comprehensive health care, rehabilitation actions are often carried out in a precarious manner, unsupported by an adequate and comprehensive policy. On the other hand, there have been real improvements in terms of expanding care to the population with special needs. CONCLUSIONS: There still are factors hindering the achievement of optimal results in the care to people with special needs. The challenge of action planning must be undertaken especially by municipal governments to ensure an adequate supply of services and thus equity of access and comprehensive health care.

O sistema público de saúde e as ações de reabilitação no Brasil / The public health care system and rehabilitation actions in Brazil

OBJETIVO: Realizar um levantamento histórico das ações de reabilitação no contexto do Sistema Único de Saúde (SUS). MÉTODOS: Pesquisa de materiais publicados entre 1980 e 2009 nas bases de dados SciELO, LILACS e MEDLINE. Foram utilizadas as seguintes palavras-chave em português: Sistema Único de Saúde, reabilitação, políticas de saúde, assistência médica, história. Em inglês foram utilizadas as palavras rehabilitation e public health. Também foram pesquisadas as leis federais e os manuais do Ministério da Saúde, junto à Coordenação de Programas de Reabilitação da Cidade do Rio de Janeiro, na biblioteca da Fundação Instituto Oswaldo Cruz e na base de dados BIREME. RESULTADOS: Obteve-se apenas um pequeno número de publicações (quatro livros, três manuais do Ministério da Saúde, quatro artigos nacionais, uma dissertação de mestrado e uma tese de doutorado). Entretanto, a análise desses materiais mostrou que, como muitos municípios ainda não são capazes de garantir o direito universal e integral à saúde, as ações de reabilitação são muitas vezes levadas a cabo de forma precária, sem apoio de uma política adequada e integral. Por outro lado, houve avanços concretos no sentido de ampliar o atendimento à população com necessidades especiais. CONCLUSÕES: Ainda persistem fatores que dificultam o alcance de ótimos resultados na atenção à pessoa com necessidades especiais. Cabe especialmente aos municípios o desafio de assumir o planejamento das ações, estabelecendo a oferta adequada de serviços e promovendo, assim, a equidade de acesso e a integralidade da assistência.

OBJECTIVE: To produce a historical account of rehabilitation actions in the context of the Brazilian Unified Health Care System (SUS). METHODS: Search of SciELO, LILACS, and MEDLINE databases for literature published between 1980 and 2009. The following Portuguese search terms were used: Sistema Único de Saúde, reabilitação, políticas de saúde, assistência médica, história. The English terms "rehabilitation" and "public health" were also used. Federal laws and Ministry of Health manuals available at the city of Rio de Janeiro Coordinating Office for Rehabilitation Programs, Fundação Instituto Oswaldo Cruz library, and in BIREME database were also surveyed. RESULTS: Only a small number of publications were recovered (four books, three Health Ministry manuals, four articles published in Brazil, one master's thesis, and one doctoral dissertation). Nevertheless, analysis of these materials revealed that since many municipalities are still incapable of ensuring the right to universal and comprehensive health care, rehabilitation actions are often carried out in a precarious manner, unsupported by an adequate and comprehensive policy. On the other hand, there have been real improvements in terms of expanding care to the population with special needs. CONCLUSIONS: There still are factors hindering the achievement of optimal results in the care to people with special needs. The challenge of action planning must be undertaken especially by municipal governments to ensure an adequate supply of services and thus equity of access and comprehensive health care.

Perfil do tratamento fisioterapêutico em crianças portadoras da síndrome de Down acompanhadas pelo Serviço de Genética Clínica do IPPMG/UFRJ / Physical therapy profile in children with Down syndrome followed by the IPPMG/UFRJ Genetic Clinical Service

Objetivo: Aumentar o conhecimento referente à prática de fisioterapia motora (FM) nas crianças portadoras da Sindrome de Down (SD) acompanhadas pelo Serviço de Genética Clínica do IPPMG/UFRJ. Material e métodos: Estudo descritivo, transversal, com aplicação de questionário aos responsáveis de portadores da SD (1 a 3 anos). Resultados: Amostra de pais de 61 crianças; 18 por cento (n = 11) nunca realizaram FM, 23 por cento (n = 14) iniciaram, mas a interromperam, e 59 por cento (n = 36) realizavam FM no momento da entrevista. Todas foram encaminhadas à FM, a maioria por geneticista (66 por cento). Mediana de idade de encaminhamento foi de 4 meses, apesar de 80 por cento das crianças terem sido diagnosticadas ao nascimento. Mediana de idade para início da FM foi de 5 meses; mais da metade da amostra (61,1 por cento) realizava FM duas vezes na semana, entre 15 e 90 min, sendo que (63,9 por cento) com duração média de 30 min. Somente um pai não recebia orientação, e metade participava das sessões. Conclusão: O atendimento fisioterapêutico não foi aplicado a todas as crianças encaminhadas, mas mostrou-se dentro do esperado com respeito à freqüência e ao envolvimento dos responsáveis na terapia. Este perfil foi importante na tentativa de aprimorar os programas de reabilitação para esta população.

Objective: To increase the knowledge in relation to motor physical therapy practice in children with Down syndrome followed by the IPPMG/UFRJ Genetic Clinical Service. Methods: Descriptive, transversal study, which applied a questionnaire to Down syndrome children parents (1 to 3 years old). Results: The sample included parents of 61 children; 18 percent (n = 11) have never performed motor physical therapy, 23 percent (n = 14) have initiated physical therapy treatment, but interrupted it, and 59 percent (n = 36) were performing physical therapy at the moment of the interview. All children were recommended and guided to therapy treatment, most of them (66 percent) by geneticist. The median age of guiding children to therapy was 4 months old, although 80 percentof them have been diagnosed at birth. The median age for beginning treatment was 5 months old; more than half of the children (61.1 percent) were taking part of a physical therapy, twice a week 15-90 minutes session, (63.9 percent) for 30 minutes. There was only one parent that did not receive orientation; and half of the parents participated on treatment. Conclusion: The treatment was not applied to all children sent to motor therapy; however concerning frequency and parent’s involvement on the sessions it fulfilled all the expectations. This profile was important to improve rehabilitation program for this population.