[Primary care in the context of the Zika epidemic and congenital Zika syndrome in the state of Pernambuco, Brazil: context, bond and care]. / Atenção primária no contexto da epidemia zika e da síndrome congênita da zika em Pernambuco, Brasil: contexto, vínculo e cuidado.

The Zika epidemic brought to the fore the birth of children with unknown and unexpected needs that demand longitudinal follow-up, strengthening the bond, comprehensiveness and coordination of care in health, which are essential attributes of primary health care (PHC). This article aims to evaluate the orientation of PHC care, using the PCATool-Brasil. The data were collected between 2016 and 2019, by means of interviews with parents of children who were born in a public maternity hospital in Recife (state of Pernambuco) between October 2015 and February 2016, a critical period of the microcephaly outbreak, especially in the Northeast of Brazil. The parents of 109 children participated in the survey, 15.6% of which had a confirmed microcephaly diagnosis. The degree of affiliation and access was sufficient, but the aspects of coordination of care, longitudinality, comprehensiveness, family and community orientation were insufficient. In the context of congenital Zika syndrome, these attributes are essential for the care of children and families. The fostering of health from these domains depends on the orientation of the models of care and their management with state and federal investments. The defense of life depends on the ability to place life above all other rationalities.

A epidemia zika trouxe ao cenário o nascimento de crianças com necessidades desconhecidas e inesperadas que exigem acompanhamento longitudinal, fortalecimento do vínculo, integralidade e coordenação do cuidado, atributos essenciais da atenção primária em saúde (APS). Este artigo tem o objetivo de avaliar a orientação da APS utilizando o instrumento PCATool-Brasil. Os dados foram coletados entre 2016 e 2019 por meio de entrevistas com responsáveis de crianças que nasceram em uma maternidade pública do Recife-PE no período crítico do surto de microcefalia, sobretudo no Nordeste do Brasil. Participaram do inquérito 109 responsáveis, dos quais 15,6% tiveram diagnóstico confirmado de microcefalia para suas crianças. Evidenciou-se a suficiência do grau de afiliação e acesso, mas a insuficiência da coordenação de cuidado, longitudinalidade, integralidade, orientação familiar e comunitária. No contexto da síndrome congênita da zika, esses atributos são imprescindíveis para o cuidado integral de crianças e famílias. A produção de saúde a partir desses domínios depende da orientação dos modelos de atenção e gestão com fortes investimentos estaduais e federal. A defesa da vida depende da capacidade de colocar a vida acima de todas as outras racionalidades.

Atenção primária no contexto da epidemia zika e da síndrome congênita da zika em Pernambuco, Brasil: contexto, vínculo e cuidado / Primary care in the context of the Zika epidemic and congenital Zika syndrome in the state of Pernambuco, Brazil: context, bond and care

Resumo A epidemia zika trouxe ao cenário o nascimento de crianças com necessidades desconhecidas e inesperadas que exigem acompanhamento longitudinal, fortalecimento do vínculo, integralidade e coordenação do cuidado, atributos essenciais da atenção primária em saúde (APS). Este artigo tem o objetivo de avaliar a orientação da APS utilizando o instrumento PCATool-Brasil. Os dados foram coletados entre 2016 e 2019 por meio de entrevistas com responsáveis de crianças que nasceram em uma maternidade pública do Recife-PE no período crítico do surto de microcefalia, sobretudo no Nordeste do Brasil. Participaram do inquérito 109 responsáveis, dos quais 15,6% tiveram diagnóstico confirmado de microcefalia para suas crianças. Evidenciou-se a suficiência do grau de afiliação e acesso, mas a insuficiência da coordenação de cuidado, longitudinalidade, integralidade, orientação familiar e comunitária. No contexto da síndrome congênita da zika, esses atributos são imprescindíveis para o cuidado integral de crianças e famílias. A produção de saúde a partir desses domínios depende da orientação dos modelos de atenção e gestão com fortes investimentos estaduais e federal. A defesa da vida depende da capacidade de colocar a vida acima de todas as outras racionalidades.

Abstract The Zika epidemic brought to the fore the birth of children with unknown and unexpected needs that demand longitudinal follow-up, strengthening the bond, comprehensiveness and coordination of care in health, which are essential attributes of primary health care (PHC). This article aims to evaluate the orientation of PHC care, using the PCATool-Brasil. The data were collected between 2016 and 2019, by means of interviews with parents of children who were born in a public maternity hospital in Recife (state of Pernambuco) between October 2015 and February 2016, a critical period of the microcephaly outbreak, especially in the Northeast of Brazil. The parents of 109 children participated in the survey, 15.6% of which had a confirmed microcephaly diagnosis. The degree of affiliation and access was sufficient, but the aspects of coordination of care, longitudinality, comprehensiveness, family and community orientation were insufficient. In the context of congenital Zika syndrome, these attributes are essential for the care of children and families. The fostering of health from these domains depends on the orientation of the models of care and their management with state and federal investments. The defense of life depends on the ability to place life above all other rationalities.

sEVsRVG selectively delivers antiviral siRNA to fetus brain, inhibits ZIKV infection and mitigates ZIKV-induced microcephaly in mouse model.

Zika virus (ZIKV), a flavivirus associated with neurological disorders, constitutes a global health threat. During pregnancy, ZIKV traverses the placenta and causes congenital disease such as microcephaly and Guillain-Barré syndrome in newborns. To develop a specific antiviral therapy against ZIKV-induced microcephaly that could cross placental and blood-brain barriers, we designed targeted small extracellular vesicles (sEVs) encapsulating antiviral siRNA (small interfering RNA) to inhibit ZIKV. The neuro-specific targeting was achieved by engineering EVs membrane protein lamp2b fused with a neuron-specific rabies virus glycoprotein derived peptide (RVG). Intravenous administration of the RVG-engineered sEVs loaded with siRNA (ZIKV-specific siRNA) protected pregnant AG6 mice against vertical transmission of ZIKV. Particularly, sEVsRVG-siRNA traversed placental and blood-brain barriers and suppressed ZIKV infection in fetal brains. Moreover, sEVsRVG-siRNA alleviated the neuroinflammation and neurological damage caused by ZIKV in the fetal mouse model. In general, we developed a sEVs-based targeted system of antiviral therapy for brain and fetal brain infections.

A guide for the use of fNIRS in microcephaly associated to congenital Zika virus infection.

Congenital Zika Syndrome (CZS) is characterized by changes in cranial morphology associated with heterogeneous neurological manifestations and cognitive and behavioral impairments. In this syndrome, longitudinal neuroimaging could help clinicians to predict developmental trajectories of children and tailor treatment plans accordingly. However, regularly acquiring magnetic resonance imaging (MRI) has several shortcomings besides cost, particularly those associated with childrens' clinical presentation as sensitivity to environmental stimuli. The indirect monitoring of local neural activity by non-invasive functional near-infrared spectroscopy (fNIRS) technique can be a useful alternative for longitudinally accessing the brain function in children with CZS. In order to provide a common framework for advancing longitudinal neuroimaging assessment, we propose a principled guideline for fNIRS acquisition and analyses in children with neurodevelopmental disorders. Based on our experience on collecting fNIRS data in children with CZS we emphasize the methodological challenges, such as clinical characteristics of the sample, desensitization, movement artifacts and environment control, as well as suggestions for tackling such challenges. Finally, metrics based on fNIRS can be associated with established clinical metrics, thereby opening possibilities for exploring this tool as a long-term predictor when assessing the effectiveness of treatments aimed at children with severe neurodevelopmental disorders.

Seguimento de crianças com microcefalia associada ao zika na atenção primária à saúde: o olhar materno / Follow-up of children with zika-associated microcephaly in primary health care: the maternal look / Seguimiento de niños con microcefalia asociada al zika en atención primaria de salud: mirada materna

Objetivo: Analisar o seguimento de crianças com microcefalia na Atenção Primária à Saúde, segundo relato de mães. Método: Pesquisa qualitativa, realizada com nove mães de crianças com microcefalia de um município de grande porte da Paraíba, por meio de entrevista semiestruturada. A interpretação dos dados seguiu os princípios da análise temática. Resultados: As mães relataram receber assistência pouco resolutiva devido à inexistência de uma rede articulada de cuidado em saúde; não valorizam o acompanhamento da Atenção Primária à Saúde para as crianças com microcefalia, preferindo consultar seus filhos com especialistas, comprometendo a oferta da atenção contínua e integral para a promoção da saúde infantil. Conclusão: É indispensável o fortalecimento da Rede de Atenção à Saúde, com construção de vínculo, tendo a Atenção Primária à Saúde como coordenadora e ordenadora do cuidado à criança com microcefalia

Objective: To analyse the follow-up of children with microcephaly in Primary Health Care, according to mothers report. Method: Qualitative research, conducted with nine mothers of children with microcephaly from a large city of Paraíba, through semi-structured interview. Data interpretation followed the principles of thematic analysis. Results: Mothers reported receiving poor care because of the lack of an articulated health care network; do not value the monitoring of Primary Health Care for children with microcephaly, choosing to consult their children with specialists, compromising the provision of continuous and comprehensive care for the promotion of child health. Conclusion: It is essential to strengthen the Health Care Network, with the construction of a bond, having Primary Health Care as coordinator and orderer of care for children with microcephaly

Objetivo: Comprender el seguimiento de los niños con microcefalia en atención primaria de salud, según el informe de las madres. Método: Investigación cualitativa, realizada con nueve madres de niños con microcefalia de una gran ciudad de Paraíba, por medio de una entrevista semiestructurada. La interpretación de los datos siguió los principios del análisis temático. Resultados: Las madres informaron que recibieron poca atención debido a la falta de una red articulada de atención médica; No valoramos el monitoreo de la Atención Primaria de Salud para niños con microcefalia, prefiriendo consultar a sus hijos con especialistas, comprometiendo la provisión de atención continua e integral para la promoción de la salud infantil. Conclusión: Es esencial fortalecer la Red de Atención Médica, con la construcción de un vínculo, teniendo la Atención Primaria de Salud como coordinador y encargado de la atención de niños con microcefalia

Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.

RATIONALE: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdiagnosed as blepharophimosis-ptosis-epicanthus inversus syndrome at first. We found a de novo frameshift mutation (p.Glu390Lysfs*10) in the KMT2A gene, which was not reported before. Our study increases the cohort of Chinese WDSTS patients, and expand the WDSTS phenotypic and variation spectrum. PATIENT CONCERNS: The patient demonstrated typical craniofacial features of blepharophimosis-ptosis-epicanthus inversus syndrome, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus, besides he had congenital heart disease (ventricular septal defects), strabismus, hypotonia, amblyopia, delayed speech and language development, delayed psychomotor development, and amblyopia (HP:0000646) which was not reported before. DIAGNOSIS: FOXL2 gene was cloned and sequenced, however, there was no mutation detected in this patient. The result of Chromosomal microarray analysis was normal. The patient was diagnosed as WDSTS by whole exome sequencing. INTERVENTIONS: The patient received cardiac surgery, frontalis suspension and regular speech and occupational therapy. He also treated with growth hormone (GH). OUTCOMES: The patient's symptoms are improved after cardiac surgery and frontalis suspension, he can express himself well now and had a 10 cm gain in height. LESSONS: As the relationship between genotype and phenotype becomes more and more clear, WES is incredibly powerful tool to diagnose the disease of WDSTS.

Itinerário da criança com microcefalia na rede de atenção à saúde / Itinerario de los ninõs con microcefalia en la red de atencion de salud / Itinerary of children with microcephaly in the health care network

RESUMO Objetivos investigar o itinerário terapêutico de crianças com microcefalia associada ao Zika na rede de atenção à saúde; e descrever a vivência das mães em relação ao itinerário percorrido para o tratamento de seus filhos. Método Estudo norteado pela História Oral Temática, realizado em instituição pública filantrópica do município de João Pessoa-Paraíba. Foram entrevistadas dez mães de crianças com microcefalia entre abril e agosto de 2017. O material empírico foi submetido à análise de conteúdo temática. Resultados Os profissionais de saúde têm dificuldade para definir o diagnóstico de crianças com microcefalia, e se encontram despreparados para informá-lo aos pais, comprometendo o itinerário terapêutico dessas crianças. As experiências das mães em busca de tratamento para seus filhos são marcadas por estresse, medo, decepção e pela frágil rede de apoio familiar, resultando em sobrecarga materna. Conclusão e implicações para a prática A reestruturação dos fluxos e contrafluxos da Rede de Atenção à Saúde às crianças com microcefalia e seus familiares torna-se imprescindível, assim como, o fortalecimento da rede de apoio às mães.

RESUMEN Objetivos Investigar el itinerario terapéutico de los niños con microcefalia asociada al Zika en la red de atención de salud; y describir la experiencia de las madres en relación con el itinerario tomado para tratar a sus hijos. Método Estudio guiado por la Historia Oral Temática, realizado en una institución pública filantrópica en la ciudad de João Pessoa-Paraíba. Se entrevistó a diez madres de niños con microcefalia entre abril y agosto de 2017. El material empírico se sometió a análisis de contenido temático. Resultados Los profesionales de la salud tienen dificultades para definir el diagnóstico de niños con microcefalia y no están preparados para informar a los padres, lo que compromete el itinerario terapéutico de estos niños. Las experiencias de las madres que buscan tratamiento para sus hijos están marcadas por el estrés, el miedo, la decepción y la fragilidad de la red de apoyo familiar, lo que resulta en una sobrecarga materna. Conclusión e implicaciones para la práctica La reestructuración de los flujos y contraflujos de la Red de Atención de Salud para niños con microcefalia y sus familias se vuelve indispensable, así como el fortalecimiento de la red de apoyo para las madres.

ABSTRACT Objectives To investigate the therapeutic itinerary of children with Zika-associated microcephaly in the health care network; and describe the experience of mothers concerning the itinerary taken to treat their children. Method This study was guided by Thematic Oral History, conducted in a philanthropic public institution in João Pessoa, PB, Brazil. Ten mothers of children with microcephaly were interviewed from April to August 2017. The empirical material was subjected to thematic content analysis. Results Health professionals have difficulty diagnosing children with microcephaly, and they are not prepared to inform parents, compromising the therapeutic itinerary of these children. The experiences of mothers seeking treatment for their children are marked by stress, fear, disappointment caused by fragile family support network. This results in maternal overload. Conclusion and implications for the practice The restructuring of the flows and counterflows of the Health Care Network for children with microcephaly and their families becomes essential, as well as the strengthening of the support network for mothers.

Early stimulation in the development of children with microcephaly: maternal perception.

OBJECTIVE: To know the maternal perception about early stimulation and its repercussion in the development of the child with microcephaly associated with zika virus. METHOD: A qualitative study was carried out from June to August 2017 with five mothers of children diagnosed with microcephaly associated with zika virus. The data were collected through individual interviews with semi-structured script and evaluated by the content analysis, in its thematic modality. RESULTS: Mothers recognized the benefits and the advances in the development of the child after the beginning of the early stimulation. It is noteworthy that the difficulty of transportation was the main reason for the lack of attendance at consultations, and that the short time of stimulation was the main weakness of the service. FINAL CONSIDERATIONS: The recognition of maternal perception and the difficulties and weaknesses of the service can contribute to the elaboration of public policies and the planning of holistic care for children with microcephaly and their families.

Sensibilização das mães de crianças com microcefalia na promoção da saúde de seus filhos / Sensibilización de las madres de niños con microcefalia en la promoción de la salud de sus hijos / Sensitizing mothers of children with microcephaly in promoting the health of their children

RESUMO Objetivo Relatar as experiências educativas das mães ou cuidadoras de crianças com microcefalia, desenvolvidas por equipe acadêmica na temática da promoção da saúde dessas crianças. Método Trata-se de relato de experiência vivenciado por alunos do curso de graduação em enfermagem, discentes e docentes do programa de Pós-Graduação em Saúde e Ambiente da Universidade Tiradentes sobre intervenções educativas realizadas em três unidades de referência no atendimento à criança com microcefalia no estado de Sergipe. A amostra do estudo foi de conveniência. Resultados Participaram da pesquisa 70 mães ou cuidadoras principais de crianças com diagnóstico confirmado de microcefalia, durante os meses de setembro a dezembro. Os eixos temáticos-teóricos selecionados para descrever as atividades foram promoção da alimentação saudável, importância do vínculo mãe e filho e estimulação precoce de crianças com microcefalia. Conclusão A experiência relatada demostrou a importância das estratégias educativas na promoção da saúde de crianças com microcefalia, proporcionando capacitação adicional às mães/cuidadoras para que estas ofereçam um cuidado holístico e humanizado a essas crianças.

RESUMEN Objetivo Relatar las experiencias educativas de las madres o cuidadoras de niños con microcefalia, desarrolladas por equipo académico en la temática de la promoción de la salud de esos niños. Método Se trata de relato de experiencia vivida por alumnos de la carrera universitaria de enfermería, discentes y docentes del programa de Posgrado en Salud y Ambiente de la Universidad Tiradentes acerca de intervenciones educativas realizadas en tres unidades de referencia en la atención al niño con microcefalia en el Estado de Sergipe. La muestra del estudio fue de conveniencia. Resultados Participaron en la investigación 70 madres o cuidadoras principales de niños con diagnóstico de microcefalia, durante los meses de septiembre a diciembre. Los ejes temáticos-teóricos seleccionados para describir las actividades fueron promoción de la alimentación sana, importancia del vínculo madre e hijo y estimulación precoz de niños con microcefalia. Conclusión La experiencia relatada demostró la importancia de las estrategias educativas en la promoción de la salud de niños con microcefalia, proporcionando capacitación adicional a las madres/cuidadoras a fin de que estas proporcionen un cuidado holístico y humanizado a esos niños.

ABSTRACT Objective To report the educational experiences of mothers or caregivers of children with microcephaly, as developed by an academic team with the theme of promoting these children's health. Method This is an experience report by undergraduate nursing students and Health and Environment Post-Graduation students and professors of Tiradentes University on educational interventions carried out in three reference units for the care of children with microcephaly in the state of Sergipe. The study sample was taken by convenience. Results A total of 70 mothers or primary caregivers of children with a confirmed diagnosis of microcephaly during the months of September to December participated in the study. The thematic-theoretical axes selected to describe the activities were promotion of healthy eating, importance of the mother and child bond, and early stimulation of children with microcephaly. Conclusion The experience reported demonstrates the importance of educational strategies in promoting the health of children with microcephaly, providing additional training to mothers/caregivers to provide holistic and humanized care to these children.

Sensitizing mothers of children with microcephaly in promoting the health of their children. / Sensibilização das mães de crianças com microcefalia na promoção da saúde de seus filhos.

OBJECTIVE: To report the educational experiences of mothers or caregivers of children with microcephaly, as developed by an academic team with the theme of promoting these children's health. METHOD: This is an experience report by undergraduate nursing students and Health and Environment Post-Graduation students and professors of Tiradentes University on educational interventions carried out in three reference units for the care of children with microcephaly in the state of Sergipe. The study sample was taken by convenience. RESULTS: A total of 70 mothers or primary caregivers of children with a confirmed diagnosis of microcephaly during the months of September to December participated in the study. The thematic-theoretical axes selected to describe the activities were promotion of healthy eating, importance of the mother and child bond, and early stimulation of children with microcephaly. CONCLUSION: The experience reported demonstrates the importance of educational strategies in promoting the health of children with microcephaly, providing additional training to mothers/caregivers to provide holistic and humanized care to these children.

Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation.

Hoyeraal-Hreidarsson syndrome (HHS), caused by several different germline mutations resulting in severe telomeropathy, presents with early-onset growth anomalies and neurologic/developmental disorders including characteristic cerebellar hypoplasia. Early mortalities may arise from immunodeficiency and bone marrow failure if not successfully salvaged by allogeneic hematopoietic stem cell transplantation (HSCT). Few reports have characterized the persistent somatic progression of HHS after successful HSCT. We present an HHS patient with an X-linked recessive DKC1 c.1058C > T; Ala353Val mutation who successfully underwent unrelated HSCT at 5 years of age. After months of early infections and organ toxicities immediately post-transplant, he had more than two years of excellent quality of life with correction of bone marrow failure and immunodeficiency. However, episodic massive variceal bleeding and progressive respiratory insufficiency, which were secondary to non-cirrhotic portal hypertension and pulmonary arteriovenous shunts, respectively, developed over 2 years after HSCT and resulted in his death from respiratory failure 4 years after HSCT. This outcome suggests that while HSCT can correct bone marrow failure and immunodeficiency, it may fail to prevent or even aggravate other fatal processes, such as portal hypertension and pulmonary arteriovenous shunting.

CT Epidemiologia 21/03/16: Microcefalia e/ou alterações do SNC ESPII

CT Epidemiologia 21/03/16: Microcefalias: SES/PE

Zika virus during pregnancy: From maternal exposure to congenital Zika virus syndrome.

Zika virus (ZIKV), a vector-borne virus similar to dengue virus, was responsible for a global epidemic between 2013 and 2017 and has emerged as a new agent responsible for severe fetopathies. We present a review to describe the risks and complications of maternal and subsequent fetal infection by ZIKV. The risk of ZIKV infection during pregnancy depends on the incidence of the disease, which is highly variable in different affected geographic areas (less than 1% to 75%). Among infected pregnant women, the risk of any adverse fetal/neonatal outcome was estimated at 5% to 42%, with 1% to 4% of fetal loss and 4% to 9% of suspected congenital Zika syndrome (CZS). The estimated rate of maternal-fetal transmission ranges between 7% and 26%, depending on the methodology of the study. Findings associated with CZS are microcephaly (33%-64%), ventriculomegaly (63%-92%), calcifications (71%-92%), malformations of cortical development (79%-82%), anomalies of the corpus callosum (71%-100%) and of the posterior fossa (21%-82%), arthrogryposis (10%-25%), eye abnormalities (25%), and extra-neurologic signs such as intra uterine growth restriction (14%), placentomegaly, transient hepatitis, mild anemia. Infants who present with CZS at birth suffer from motor abnormalities (77%-100%), epilepsy (9%-54%), hearing loss, and neurologic impairments. Prenatal ultrasound with advanced neurosonography and appropriate virological follow-up represent the state-of-the art approach to adequately monitor at-risk pregnancies, in order to diagnose early signs of CZS and to inform parents about the neonatal prognosis.

Infants with microcephaly due to ZIKA virus exposure: nutritional status and food practices.

BACKGROUND: Children with microcephaly due to vertical exposure to Zika virus are an interesting population for investigation. Highlighted among their unique aspects are those related to nutrition due to its impact on child growth and development. Knowledge about the nutrition of microcephalic infants can help mothers and caregivers provide better care. Thus, this study aimed to describe the nutritional status and feeding practices of infants with microcephaly due to Zika virus exposure at birth and 12-23 months of age. METHODS: This is a descriptive study developed from a cohort of patients attending a public institution of reference. A total of 65 infants attended outpatient nutrition clinics. The food practices were described using the 24-h food recall and food consumption indicators. Anthropometric measurements and consultations were made using the Child Health Handbook to obtain information on the nutritional status (weight, height and head circumference) at the time of consultation and birth. RESULTS: There was a significant decrease in z-scores for weight, height and head circumference (HC) from birth to the time of the consultation. However, most infants did not show weight-for-height deficits. Additionally, HC was correlated with the anthropometric indices weight-for-age, height-for-age, body mass index-for-age and weight-for-height. CONCLUSION: Infants exhibited a worsening of their nutritional status between birth and the time of their consultation, notably when we evaluated the indices of height and head circumference for age. The main inadequacies regarding dietary practices were low food diversity, use of ultra-processed products and low lipid intake.

Health Care Network: Maternal perception regarding the quality of care to children with microcephaly / Red de Atención a la Salud: Percepción materna en cuanto a la calidad de atención de niños con microcefalia / Rede de Atenção à Saúde: Percepção materna quanto à qualidade de atendimento de crianças com microcefalia

Abstract Objective: To identify the perception of primary caregivers on the quality of the Health Care Network of children with microcephaly related to congenital infection. Methods: A cross-sectional study carried out from October 2017 to April 2018. Results: The 105 participants assessed the health of their children as reasonable (56.1%). The level of care which got the highest percentage - 57 (54.3%) - of participants' dissatisfaction was of Primary Health Care (p=0.0216). Most of the specialties of secondary health care services were classified as poor/very poor, regarding the quality of the consultation at the secondary level (p<0.05). For the majority - 61 (58%) - of the mothers, regarding this level of attention, the items waiting time and appointment scheduling were evaluated as excellent/good (p<0.05). Conclusion and implications for practice: There is dissatisfaction among mothers considering the quality of services provided by the health care network for children with microcephaly, mainly in primary care. There was easiness in the access to Secondary Care, and little use of Tertiary Care services. It is urgent to elaborate policies that better disseminate humanization and facilitate the accessibility to multiprofessional care for those children.

Resumen Objetivo: Identificar la percepción de cuidadores principales sobre la calidad de la Red de Atención a la Salud de niños con microcefalia relacionada con infección congénita. Métodos: Investigación de corte transversal realizada entre octubre 2017 y abril de 2018. Resultados: Las 105 participantes evaluaron la salud de sus hijos como razonable (56,1%). El nivel de atención que obtuvo el mayor porcentaje de insatisfacción - 57(54,3%) - fue en la Atención Primaria (p=0,0216). La mayoría de las especialidades de la Atención Secundaria fueron clasificadas como mala/muy mala, sobre la calidad de la consulta en el nivel secundario (p<0,05). Para la mayoría - 61(58%) - de las madres, en cuanto a ese nivel de atención, los ítems tiempo de espera y programación de consulta fueron evaluados como excelente/bueno. Conclusión e implicaciones para la práctica: Hubo insatisfacción de las madres con la calidad de servicios prestados por la Red de Atención a la Salud del niño con microcefalia principalmente en la Atención Primaria. Hubo facilidad de acceso a la Atención Secundaria, y poca utilización de los servicios de la Atención Terciaria. Es urgente la elaboración de políticas que mejor difundan la humanización y faciliten la accesibilidad a la atención multiprofesional para estos niños.

Resumo Objetivo: Identificar a percepção de cuidadores principais sobre a qualidade da Rede de Atenção à Saúde de crianças com microcefalia relacionada à infecção congênita. Métodos: Estudo de corte transversal realizado no período de outubro de 2017 a abril de 2018. Resultados: As 105 participantes avaliaram a saúde de seus filhos como razoável (56,1%). O nível de atenção que obteve o maior percentual - 57(54,3%) - de insatisfação das participantes foi o da Atenção Primária à Saúde (p=0,0216). A maioria das especialidades da Atenção Secundária à Saúde foi classificada como ruim/muito ruim, quanto à qualidade da consulta no nível secundário (p<0,05). Para a maioria - 61(58%) - das mães, quanto a esse nível de atenção, os itens tempo de espera e agendamento de consulta foram avaliados como excelente/bom (p<0,05). Conclusão e implicações para a prática: Existe insatisfação das mães com a qualidade dos serviços prestados pela Rede de Atenção à Saúde da criança com microcefalia, principalmente na Atenção Primária. Houve facilidade no acesso à Atenção Secundária, e pequena utilização dos serviços da Atenção Terciária. É urgente a elaboração de políticas que melhor difundam a humanização e facilitem a acessibilidade ao atendimento multiprofissional para essas crianças.

Early stimulation in the development of children with microcephaly: maternal perception / Estimulación precoz en el desarrollo del niño con microcefalia: percepción materna / Estimulação precoce diante do desenvolvimento da criança com microcefalia: percepção materna

ABSTRACT Objective: To know the maternal perception about early stimulation and its repercussion in the development of the child with microcephaly associated with zika virus. Method: A qualitative study was carried out from June to August 2017 with five mothers of children diagnosed with microcephaly associated with zika virus. The data were collected through individual interviews with semi-structured script and evaluated by the content analysis, in its thematic modality. Results: Mothers recognized the benefits and the advances in the development of the child after the beginning of the early stimulation. It is noteworthy that the difficulty of transportation was the main reason for the lack of attendance at consultations, and that the short time of stimulation was the main weakness of the service. Final considerations: The recognition of maternal perception and the difficulties and weaknesses of the service can contribute to the elaboration of public policies and the planning of holistic care for children with microcephaly and their families.

RESUMEN Objetivo: Conocer la percepción materna acerca de la estimulación precoz y su repercusión en el desarrollo del niño con microcefalia asociada al zika virus. Método: Estudio cualitativo, realizado de junio a agosto de 2017 con cinco madres de niños diagnosticados con microcefalia asociada al zika virus. Los datos fueron recolectados por medio de entrevistas individuales con guion semiestructurado y evaluados por el análisis de contenido, en su modalidad temática. Resultados: Se verificó que las madres reconocieron los beneficios y los avances en el desarrollo del niño después del inicio de la estimulación precoz. Se resalta que la dificultad de transporte fue el principal motivo para la falta de asiduidad en las consultas, y que el corto tiempo de estimulación consistió en la principal fragilidad del servicio. Consideraciones finales: El reconocimiento de la percepción materna y de las dificultades y fragilidades del servicio pueden contribuir en la elaboración de políticas públicas y en la planificación de la asistencia holística al niño con microcefalia y su familia.

RESUMO Objetivo: Conhecer a percepção materna acerca da estimulação precoce e sua repercussão no desenvolvimento da criança com microcefalia associada ao zika vírus. Método: Estudo qualitativo, realizado de junho a agosto de 2017 com cinco mães de crianças diagnosticadas com microcefalia associada ao zika vírus. Os dados foram coletados por meio de entrevistas individuais com roteiro semiestruturado e avaliados pela análise de conteúdo, em sua modalidade temática. Resultados: Verificou-se que as mães reconheceram os benefícios e os avanços no desenvolvimento da criança após o início da estimulação precoce. Ressalta-se que a dificuldade de transporte foi o principal motivo para a falta de assiduidade nas consultas, e que o curto tempo de estimulação consistiu na principal fragilidade do serviço. Considerações finais: O reconhecimento da percepção materna e das dificuldades e fragilidades do serviço podem contribuir na elaboração de políticas públicas e no planejamento da assistência holística à criança com microcefalia e sua família.

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.

Dubowitz syndrome was described in 1965 as a recognizable syndrome characterized by microcephaly, short stature, eczema, mild developmental delays, and an increased risk of malignancy. Since its original description, there have been over 200 reported cases though no single gene has been identified to explain a significant proportion of affected individuals. Since the last definitive review of Dubowitz syndrome in 1996, there have been 63 individuals with a clinical, or suspected, diagnosis of Dubowitz syndrome reported in 51 publications. These individuals show a markedly wide spectrum with respect to growth, facial gestalt, psychomotor development, and risk of malignancy; genetic causes were identified in 33% (21/63). Seven individuals had deleterious copy number variants, in particular deletions at 14q32 and 17q24 were reported and showed overlap with the Dubowitz phenotype. Several cases were shown to have single gene disorders that included de novo or biallelic pathogenic variants in several genes including NSUN2 and LIG4 frequently identified by next-generation sequencing methods. It appears that the inability to identify a single gene responsible for Dubowitz syndrome reflects its extreme clinical and genetic heterogeneity. However, detailed phenotyping combined with careful grouping of subsets of unsolved cases and in conjunction with data-sharing will identify novel disease genes responsible for additional cases. In the interim, for those clinically diagnosed with a Dubowitz phenotype, we recommend assessment by a Medical Geneticist, a microarray and, if available, clinical or research based genome-wide sequencing. Management suggestions, including decisions regarding malignancy screening in select patients will be discussed.

Public Health Approach to Addressing the Needs of Children Affected by Congenital Zika Syndrome.

We have learned much about the short-term sequelae of congenital Zika virus (ZIKV) infection since the Centers for Disease Control and Prevention activated its ZIKV emergency response in January 2016. Nevertheless, gaps remain in our understanding of the full spectrum of adverse health outcomes related to congenital ZIKV infection and how to optimize health in those who are affected. To address the remaining knowledge gaps, support affected children so they can reach their full potential, and make the best use of available resources, a carefully planned public health approach in partnership with pediatric health care providers is needed. An essential step is to use population-based data captured through surveillance systems to describe congenital Zika syndrome. Another key step is using collected data to investigate why some children exhibit certain sequelae during infancy and beyond, whereas others do not, and to describe the clustering of anomalies and the timing of when these anomalies occur, among other research questions. The final critical step in the public health framework for congenital Zika syndrome is an intervention strategy with evidence-based best practices for longer-term monitoring and care. Adherence to recommended evaluation and management procedures for infants with possible congenital ZIKV infection, including for those with less obvious developmental and medical needs at birth, is essential. It will take many years to fully understand the effects of ZIKV on those who are congenitally infected; however, the lifetime medical and educational costs as well as the emotional impact on affected children and families are likely to be substantial.

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge. and anteverted nares. Here we present four patients with five novel UBE3B mutations and propose the inclusion of clinical features to the characteristics of Kaufman oculocerebrofacial syndrome, including prominence of the cheeks and limb anomalies.