Impacto da microcefalia no vínculo mãe-bebê e suas repercussões para o desenvolvimento infantil / Impact of microcephaly on the mother-child relations and its repercussions on child development / L'impact de la microcéphalie sur les relations mère-enfant et ses répercussions sur le développement de l'enfant / Impacto de la microcefalia en el vínculo madre-bebé y sus repercusiones para el desarrollo infantil

Resumo O vínculo afetivo entre mãe e bebê é fundamental para o desenvolvimento infantil, mas pode sofrer o impacto de uma condição como a microcefalia, decorrente do contágio pelo vírus zika durante a gravidez. O objetivo deste estudo foi analisar as repercussões da infecção na formação do laço mãe-bebê e seus desfechos para o desenvolvimento infantil. Trata-se de uma pesquisa descritiva, conduzida com nove mães infectadas pelo vírus zika e seus bebês, dentre os quatro nasceram com microcefalia. Todas as mães foram atendidas no hospital Maternidade Escola da Universidade Federal do Rio de Janeiro e responderam ao questionário de Indicadores de Risco para o Desenvolvimento Infantil, e seus bebês foram avaliados pelo Battelle Developmental Inventory 2nd edition. Observou-se que a relação mãe-bebê apresentou mais indicadores de risco para o desenvolvimento infantil quando o bebê tinha microcefalia.

Abstract Affective mother-child relations are fundamental for child development, which can be impacted by conditions such as microcephaly, due to Zika virus infection during pregnancy. This study sought to analyze the ensuing repercussions on the mother-child relations and its outcomes for child development. A descriptive study was conducted with nine mothers infected by Zika virus and their newborns, four of them born with microcephaly. All mothers were attended at the Maternity School Hospital of the Federal University of Rio de Janeiro, and answered the Risk Indicators for Child Development. The newborns were evaluated by the Battelle Developmental Inventory 2nd edition. Results show that the mother-child relations presented higher risk for child development when the newborn had microcephaly.

Résumé Les relations affectives mère-enfant sont fondamentale pour le développement de l'enfant et peut être affecté par des conditions telles que la microcéphalie, due à l'infection par le virus Zika pendant la grossesse. Cette étude a chercher à analyser les répercussions qui en découle sur les relations mère-enfant et leurs conséquences sur le développement de l'enfant. Une recherche descriptive a été menée auprès de neuf mères infectées par le virus Zika et de leurs nouveau-nés, dont quatre atteint de microcéphalie. Toutes les mères ont été suivie à la maternité de l'Université fédérale de Rio de Janeiro, et ont répondu aux Indicateurs de risque pour le développement de l'enfant. Les nouveau-nés ont été évalués par le Battelle Developmental Inventory 2nd edition. Les résultats montrent que la relation mère-enfant présentent un risque plus élevé pour le développement de l'enfant lorsque le nouveau-né est atteint de microcéphalie.

Resumen El vínculo afectivo madre-bebé es fundamental para el desarrollo infantil, sin embargo, puede ser impactado por una condición como la microcefalia, que resulta de la infección por el virus Zika durante el embarazo. El objetivo de este estudio fue analizar las repercusiones de este impacto en el vínculo madre-bebé y sus resultados para el desarrollo infantil. Este es un estudio descriptivo realizado con nueve madres infectadas por el virus Zika y sus bebés, cuatro de ellos nacieron con microcefalia. Todas las madres fueron atendidas en el Hospital Maternidade Escola de la Universidade Federal do Rio de Janeiro y han respondido el cuestionario de Indicadores de Riesgo para el Desarrollo Infantil, y sus bebés fueron evaluados por el Inventario de Depresión de Beck. Se observó que la relación madre-bebé presenta más indicadores de riesgo para el desarrollo del niño cuando el bebé tenía microcefalia.

Excessive Laughter-like Vocalizations, Microcephaly, and Translational Outcomes in the Ube3a Deletion Rat Model of Angelman Syndrome.

Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder characterized by intellectual disabilities, motor and balance deficits, impaired communication, and a happy, excitable demeanor with frequent laughter. We sought to elucidate a preclinical outcome measure in male and female rats that addressed communication abnormalities of AS and other neurodevelopmental disorders in which communication is atypical and/or lack of speech is a core feature. We discovered, and herein report for the first time, excessive laughter-like 50 kHz ultrasonic emissions in the Ube3amat-/pat+ rat model of AS, which suggests an excitable, playful demeanor and elevated positive affect, similar to the demeanor of individuals with AS. Also in line with the AS phenotype, Ube3amat-/pat+ rats demonstrated aberrant social interactions with a novel partner, distinctive gait abnormalities, impaired cognition, an underlying LTP deficit, and profound reductions in brain volume. These unique, robust phenotypes provide advantages compared with currently available mouse models and will be highly valuable as outcome measures in the evaluation of therapies for AS.SIGNIFICANCE STATEMENT Angelman syndrome (AS) is a severe neurogenetic disorder for which there is no cure, despite decades of research using mouse models. This study used a recently developed rat model of AS to delineate disease-relevant outcome measures to facilitate therapeutic development. We found the rat to be a strong model of AS, offering several advantages over mouse models by exhibiting numerous AS-relevant phenotypes, including overabundant laughter-like vocalizations, reduced hippocampal LTP, and volumetric anomalies across the brain. These findings are unconfounded by detrimental motor abilities and background strain, issues plaguing mouse models. This rat model represents an important advancement in the field of AS, and the outcome metrics reported herein will be central to the therapeutic pipeline.

Effects of methylazoxymethanol-induced micrencephaly on parvalbumin-positive GABAergic interneurons in the rat rostral basolateral amygdala.

The amygdala plays a crucial role in anxiety-related behavior and various neuropsychiatric disorders. The offspring of dams, administered methylazoxymethanol acetate (MAM) intraperitoneally at gestational day 15, exhibit micrencephaly and anxiety-related behavior, such as hyperactivity in rearing and crossing behavior, alongside a distinct Fos expression profile in the basolateral (BLA) and central amygdala. However, the histochemical underpinnings of these changes remain to be elucidated. To determine the histochemical alterations in MAM-induced model rats, we performed Nissl staining, immunohistochemistry for parvalbumin (PV) or calbindin (Calb), and immunohistochemistry for PV in conjunction with in situ hybridization for glutamate decarboxylase (GAD). We compared immunoreactivity in the BLA between normal and MAM-induced model rats and observed a significant decrease in the number of PV-positive neurons in MAM-induced model rats; however, no significant differences in the number of Nissl- and Calb-positive neurons were observed. We did not detect any significant between-group differences with regards to the effects of environmental enrichment on the number of PV-positive neurons in the BLA. Double-labeling for GAD and PV revealed that many PV-positive neurons colocalized with digoxigenin-GAD65/67 signals. In addition, GAD/PV double-positive neurons and the total number of GAD-positive neurons in the BLA were lower in the MAM-induced model rats. These results indicate that histochemical alterations observed in the BLA of the MAM-induced model rats may attribute to an aberrant GABAergic inhibitory system.

Quality of life of family caregivers of children with microcephaly

Assess the quality of life of family caregivers of children with microcephaly.This is an analytical cross-sectional study developed in Teresina-PI, carried out in a rehabilitation center. For data collection a form was used to investigate the sociodemographic profile and the Medical Outcomes Study 36 -Item Short-Form Health Survey instrument to assess quality of life. For data analysis, we used the statistical tests Student's t, ANOVA, U-Mann Whitney and Kruskal-Wallis. The descriptive analysis of the results showed that the functional capacity domain presented the most impairment by obtaining the highest score. The dimensions vitality and pain showed the lowest averages, representing the less affected domains. The associations between the sociodemographic characteristics and the domains of quality of life were significant between the variables marital status and pain, education and the domains vitality and emotional aspect, and between employment status and general health status. The quality of life of family caregivers presented losses related to the change of routine and the difficulties faced on a daily basis, highlighting the importance of covering the health of caregivers within the assistance offered to children with special needs, contributing to the well-being of those who care and consequently of those who are cared for.

Complications and Sequelae in Patients With Congenital Microcephaly Associated With Zika Virus Infection: Two-Year Follow-Up.

BACKGROUND: We aim to describe the long term follow-up of a cohort of children exposed in utero to the Zika virus. METHODS: Descriptive study of a cohort of microcephalic children due to Zika virus. Logistic regression was used to evaluate variables associated with worse prognosis epilepsy. RESULTS: We followed 28 children (15 females), with a median follow-up of 24 months (IQR = 12-28). During the follow-up, 1 infant died. The median head circumference at birth was 29 cm (IQR = 27-31). All presented a global developmental delay. The most frequent central nervous system abnormalities were on cortical development in 22 participants; dysgenesis of corpus callosum in 13; ventriculomegaly in 25; and calcifications in 24. A total of 9 presented ocular abnormalities, 4 auditory impairment. During follow-up, 12 presented with sleep disorders, 10 with irritability, and 23 with epilepsy (2 with generalized tonic-clonic, 3 with generalized tonic-clonic and spasms, 12 with spasms, 3 tonic and spasms, and 3 motor focal and spasms). The median age at the begin of the epilepsy was 4 months (IQR = 2-10), the median number of drugs used to control the epilepsy was 2 (IQR = 2-3). Maternal illicit drug use during pregnancy was associated with worse prognosis epilepsy (Lennox-Gastaut syndrome, West syndrome, or status epilepticus). A total of 19 presented with dysphagia, 10 children required gastrostomy. CONCLUSION: Children with microcephaly due to Zika virus presented with several complications during follow-up, as epilepsy, spastic diplegia, and global developmental delay.

QUALITY OF LIFE OF MOTHERS OF CHILDREN WITH CONGENITAL SYNDROME AFFECTED BY ZIKA VIRUS.

OBJECTIVE: To investigate how mothers of children with congenital syndrome (microcephaly) associated with Zika virus perceive their quality of life. METHODS: This is a qualitative study carried out in two stages: at the Maternal and Child University Hospital and at Casa de Apoio Ninar through semi-structured interviews with mothers of children with congenital syndrome associated with Zika virus. Ten women comprised the sample. RESULTS: In line with the critical discourse analysis, four categories emerged based on Fairclough's 2008 assumptions: Quality of Life and Health - quality of life perception associated with the broad meaning of the term health; Quality of Life and Health Care Systems - characterized by care instability and fragmentation; Quality of Life and Free Time - lack of free time for activities of daily living and leisure; Quality of Life and Future Perspectives - lack of future perspective, considering that most participants had to stop working and studying to take care of their children. CONCLUSIONS: Mothers of children with congenital syndrome associated with Zika virus are devoted to their children's care. Their lack of prospects was considered a consequence of the lack of time for activities of daily living and leisure.

Quality of life of mothers of children with congenital syndrome affected by zika virus / Qualidade de vida de mães de crianças com síndrome congênita afetadas pelo zika vírus

ABSTRACT Objective: To investigate how mothers of children with congenital syndrome (microcephaly) associated with Zika virus perceive their quality of life. Methods: This is a qualitative study carried out in two stages: at the Maternal and Child University Hospital and at Casa de Apoio Ninar through semi-structured interviews with mothers of children with congenital syndrome associated with Zika virus. Ten women comprised the sample. Results: In line with the critical discourse analysis, four categories emerged based on Fairclough's 2008 assumptions: Quality of Life and Health - quality of life perception associated with the broad meaning of the term health; Quality of Life and Health Care Systems - characterized by care instability and fragmentation; Quality of Life and Free Time - lack of free time for activities of daily living and leisure; Quality of Life and Future Perspectives - lack of future perspective, considering that most participants had to stop working and studying to take care of their children. Conclusions: Mothers of children with congenital syndrome associated with Zika virus are devoted to their children's care. Their lack of prospects was considered a consequence of the lack of time for activities of daily living and leisure.

RESUMO Objetivo: Investigar a percepção da qualidade de vida das mães de crianças portadoras de síndrome congênita (microcefalia) associada ao Zika vírus. Métodos: Trata-se de um estudo qualitativo realizado em duas etapas. A primeira foi conduzida no Hospital Universitário Materno-Infantil e a segunda na Casa de Apoio Ninar, por meio de entrevista semiestruturada com mães de crianças que apresentam a síndrome congênita associada ao Zika vírus. A amostra foi composta por 10 mulheres. Resultados: Em consonância com a análise crítica do discurso, segundo os pressupostos de Fairclough, de 2008, quatro categorias emergiram: Qualidade de Vida e Saúde - a percepção da qualidade de vida está vinculada ao significado amplo do termo saúde; Redes de Qualidade de Vida e Atenção à Saúde - caracterizadas por precariedade e fragmentação do cuidado; Qualidade de Vida e Tempo Livre - falta de tempo livre para realizar atividades da vida diária e lazer; Qualidade de Vida e Perspectivas Futuras - foi abordada a falta de perspectiva futura, uma vez que a maioria das participantes teve que parar de trabalhar e estudar para cuidar dos filhos. Conclusões: Mães de crianças com síndrome congênita associada ao vírus Zika são totalmente dedicadas ao cuidado de seus filhos. A falta de perspectivas para o futuro foi considerada em decorrência da falta de tempo para lazer e atividade da vida diária.

Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting.

Autism spectrum disorder (ASD) is associated with various molecular mechanisms including copy number variants (CNVs). We investigated possible associations between CNVs and ASD clinical correlates. We evaluated pertinent physical characteristics and phenotypic measures such as cognitive level, severity of ASD symptoms and comorbid conditions in ASD patients consecutively recruited over the study period. Children with causative (C-CNVs), non-causative (NC-CNVs) and without CNVs (W-CNVs) were compared. Out of 109 patients, 31 imbalances (16 duplications and 15 deletions) were detected in 25 subjects. Seven (6.4%) had C-CNVs and 18 (16.5%) had NC-CNVs. Paired post hoc comparisons with Bonferroni adjustment showed that dysmorphisms and microcephaly were significantly more frequent in the C-CNVs group. Patients with C-CNVs had more severe autistic core symptoms, while comorbid internalizing behavioral symptoms were more represented among participants with NC-CNVs. No significant differences were observed for distribution of macrocephaly, intellectual disability, epilepsy, isolated electroencephalogram abnormalities and studied neuroimaging characteristics among groups. Recurrent and rare C-CNVs highlighting genes relevant to neurodevelopment had a statistically higher occurrence in children with more severe ASD symptoms and further developmental abnormalities. This study documents the importance of measuring the physical and neurobehavioural correlates of ASD phenotypes to unravel the underlying molecular mechanisms in patient subgroups.

How do mothers feel? Life with children with congenital Zika syndrome.

OBJECTIVE: To describe the repercussions, from the perspectives of caregiver mothers, of confirmed congenital Zika syndrome (CZS) in their offspring. METHODS: A descriptive-exploratory study with a qualitative approach was carried out in the state of Espírito Santo in southeastern Brazil, with 25 women who had a child diagnosed with CZS. RESULTS: Emerging themes from the content analysis were grouped into two categories: (1) inequalities experienced by mothers, including social inequality, poverty, and gender inequality; (2) the impact of a child with CZS on mothering, including feelings at the time of diagnosis, maternal isolation and mental health, experiences of stigma and prejudice, and exhausting itineraries searching for therapeutic care. CONCLUSION: The repercussions of CZS were a huge burden on already vulnerable women, and social inequalities and poverty were important markers in the mothers' reports. Many of the families affected by CZS already lived in precarious social conditions and these conditions were exacerbated further. Robust public and social policies to support these mothers need effective implementation given that babies born with CZS need long-term care and support.

[Experiences of parents of children born with microcephaly during the Zika epidemic following disclosure of the diagnosis]. / Experiências de pais de crianças nascidas com microcefalia, no contexto da epidemia de Zika, a partir da comunicação do diagnóstico.

This article aims to understand how parents of children with microcephaly received the diagnosis. This qualitative study was conducted at State Referral Center for Children's Neurodevelopment, Care, and Rehabilitation (NINAR) in São Luís, Maranhão State, Brazil, from April 2017 to February 2018. Participants in the study included parents or guardians of children with microcephaly. Data collection included structured and semi-structured interviews with 3 couples, 16 mothers, and 1 great-grandmother, totaling 20 interviews. The sample was defined by the saturation criterion, and content analysis was performed according to the thematic modality. Eighteen interviewees reported that the diagnosis had been disclosed to them inappropriately and traumatically, sometimes linked to a sense of "end of life" and dissociated from orientation on ways to cope with the situation and care for the child. The diagnosis of microcephaly was disclosed by physicians in 15 of the 20 cases. Three other cases were disclosed as follows: one by a nurse, one by the mother-in-law (who had learned of the diagnosis from the physician), and one by a health department employee. The other two did not receive the diagnosis: one couple learned of the microcephaly from the infant's Certificate of Life Birth and the other associated the child's problem with information broadcast on the media. Three thematic lines were analyzed: omission of the diagnosis; process of disclosure of the diagnosis; and anticipation of the prognosis. The ways diagnosis of microcephaly was disclosed to families influenced how they accepted and coped with the situation.

Este artigo tem como objetivo compreender como os pais de crianças com microcefalia receberam a comunicação do diagnóstico. Trata-se de um estudo qualitativo, realizado no Centro de Referência Estadual em Neurodesenvolvimento, Assistência e Reabilitação de Crianças (NINAR), em São Luís, Maranhão, Brasil, no período de abril de 2017 a fevereiro de 2018. Participaram do estudo os responsáveis de crianças com microcefalia. As técnicas de coleta de dados foram entrevistas estruturadas e semiestruturadas com 3 casais, 16 mães e 1 bisavó, totalizando 20 entrevistas. A amostra foi definida pelo critério de saturação, e foi realizada análise de conteúdo na modalidade temática. Para 18 entrevistados, a forma da comunicação foi considerada inadequada e traumática, algumas vezes atrelada ao sentido de "fim da vida" e dissociada de orientações sobre as formas de enfrentar a situação e cuidar do filho. Em 15 dos 20 casos, o diagnóstico de microcefalia foi dado por médicos e, em 3 casos, por enfermeira, por sogra (que soube pelo médico) e por uma funcionária da Secretaria de Saúde. Os dois outros não receberam diagnóstico: um casal soube da microcefalia pela Declaração de Nascido Vivo e outro associou o problema do filho a informações veiculadas na mídia. Foram três os eixos temáticos analisados: omissão do diagnóstico, processo de comunicação do diagnóstico e antecipação de prognóstico. As formas de comunicação do diagnóstico da microcefalia aos familiares influenciaram nos modos de aceitação e enfrentamento da situação.

Este artículo tiene como objetivo comprender cómo los padres de niños con microcefalia recibieron la comunicación del diagnóstico. Se trata de un estudio cualitativo, realizado en el Centro de Referencia Estatal en Neurodesarrollo, Asistencia y Rehabilitación de Niños (NINAR), en São Luís, Maranhão, Brasil, durante el período de abril de 2017 a febrero de 2018. Participaron en el estudio los responsables de niños con microcefalia. Las técnicas de recogida de datos fueron entrevistas estructuradas y semiestructuradas con 3 parejas, 16 madres y 1 bisabuela, totalizando 20 entrevistas. La muestra se definió por el criterio de saturación y se realizó un análisis de contenido de modalidad temática. Para los 18 entrevistados, la forma de la comunicación fue considerada inadecuada y traumática, algunas veces vinculada al sentido de "fin de la vida" y disociada de orientaciones sobre las formas de enfrentar la situación y cuidar del hijo. El diagnóstico de microcefalia fue proporcionado por médicos en 15 de los 20 casos y en tres casos: por una enfermera, por la suegra (que lo supo por el médico) y por una funcionaria de la Secretaría de Salud. Los otros dos no recibieron diagnóstico: una pareja supo que era microcefalia por la declaración de nacido vivo (DNV) y otra asoció el problema del hijo con la información a través de los medios de comunicación. Fueron tres los ejes temáticos analizados: omisión del diagnóstico; proceso de comunicación del diagnóstico y anticipación de pronóstico. Las formas de comunicación del diagnóstico de la microcefalia a los familiares influenciaron en las formas de aceptación y de saber cómo enfrentarse a la situación.

Zika and abortion in Brazilian newspapers: how a new outbreak revived an old debate on reproductive rights.

Since the beginning of the Zika virus epidemic, the Brazilian Ministry of Health has reported over 2000 confirmed cases of microcephaly associated with Zika virus in Brazil, with the cases concentrated in the northeast states. The Zika epidemic reopened a debate in Brazil that has played out in the national newspapers about expanding the abortion law to provide autonomy and legal protection to women. The argument for expanding the abortion law to include microcephaly secondary to Zika virus infection called for autonomy for women and, more broadly, protection of reproductive rights. The argument against expanding the current abortion law was separated into two main moral veins: those citing eugenics and those citing religious beliefs. However, the debate on abortion in the case of microcephaly accomplished more than giving a voice to two different viewpoints; it exposed health disparities that exist in Brazil, which were magnified by Zika virus, and reopened the political arena for discussion of the abortion law.

O fenômeno social no entorno da epidemia de zika como potencial complicador à constituição psíquica do bebê / El fenómeno social en el entorno de la epidemia de zika como potencial complicador a la constitución psíquica del bebé / The social phenomenon in the environment of zika's epidemic as a potential complicator to the baby's psychic constitution

Este artigo busca analisar a relação entre a epidemia de Zika, ocorrida no Brasil entre 2015 e 2017, e o cenário social fóbico estabelecido entre as gestantes e seus familiares a espera de um bebê. O objetivo é fazer uma exploração teórica, com base numa perspectiva psicanalítica, ou seja, que considera os processos inconscientes na constituição do sujeito psicológico, impulsionado pela sexualidade no cenário edípico, o que implica, nesse cenário da epidemia de Zika, a reorganização das identidades paternas e maternas impregnadas pelo medo de trazer ao mundo um bebê com necessidades especiais ou, ainda, com complicações consideradas incompatíveis com a vida.

Este artículo busca analizar la relación entre la epidemia de Zika, ocurrida en Brasil entre 2015 y 2017, y el escenario social fóbico establecido entre las gestantes y sus familiares durante la espera de un bebé. El objetivo es hacer una exploración teórica, con base en una perspectiva psicoanalítica, o sea, que considera los procesos inconscientes en la constitución del sujeto psicológico, impulsado por la sexualidad en el escenario edípico, lo que implica, en ese escenario de la epidemia de Zika, la reorganización de las identidades paternas y maternas impregnadas por el miedo de traer al mundo un bebé con necesidades especiales o, aún, con complicaciones consideradas incompatibles con la vida.

This paper aims to analyze the relationship between the Zika epidemic that occured in Brazil from 2015 to 2017 and the phobic social scenario established between pregnant women and their relatives who will receive a baby in the family. The objective is to make a theoretical exploration, based on a psychoanalytical perspective, which considers the unconscious processes in the constitution of the psychological subject, driven by sexuality in the Oedipal scenario and therefore result, in this scenario of Zika virus, the reorganization of the paternal and maternal identities impregnated by the fear to bring to the world a baby with special needs or even with complications that are considered incompatible with life.

Misperceived Risks of Zika-related Microcephaly in India.

After the discovery that Zika virus (ZIKV) could cause microcephaly and other birth defects, we have scrambled to understand how. Now, spreading along with the virus is misinformation that a ZIKV mutation is responsible for microcephaly. Putting too much onus on a single mutation could enhance a crisis in India.

Experiências de pais de crianças nascidas com microcefalia, no contexto da epidemia de Zika, a partir da comunicação do diagnóstico / Experiences of parents of children born with microcephaly during the Zika epidemic following disclosure of the diagnosis / Experiencias de padres de niños nacidos con microcefalia en el contexto de la epidemia de Zika a partir de la comunicación del diagnóstico

Resumo: Este artigo tem como objetivo compreender como os pais de crianças com microcefalia receberam a comunicação do diagnóstico. Trata-se de um estudo qualitativo, realizado no Centro de Referência Estadual em Neurodesenvolvimento, Assistência e Reabilitação de Crianças (NINAR), em São Luís, Maranhão, Brasil, no período de abril de 2017 a fevereiro de 2018. Participaram do estudo os responsáveis de crianças com microcefalia. As técnicas de coleta de dados foram entrevistas estruturadas e semiestruturadas com 3 casais, 16 mães e 1 bisavó, totalizando 20 entrevistas. A amostra foi definida pelo critério de saturação, e foi realizada análise de conteúdo na modalidade temática. Para 18 entrevistados, a forma da comunicação foi considerada inadequada e traumática, algumas vezes atrelada ao sentido de "fim da vida" e dissociada de orientações sobre as formas de enfrentar a situação e cuidar do filho. Em 15 dos 20 casos, o diagnóstico de microcefalia foi dado por médicos e, em 3 casos, por enfermeira, por sogra (que soube pelo médico) e por uma funcionária da Secretaria de Saúde. Os dois outros não receberam diagnóstico: um casal soube da microcefalia pela Declaração de Nascido Vivo e outro associou o problema do filho a informações veiculadas na mídia. Foram três os eixos temáticos analisados: omissão do diagnóstico, processo de comunicação do diagnóstico e antecipação de prognóstico. As formas de comunicação do diagnóstico da microcefalia aos familiares influenciaram nos modos de aceitação e enfrentamento da situação.

Abstract: This article aims to understand how parents of children with microcephaly received the diagnosis. This qualitative study was conducted at State Referral Center for Children's Neurodevelopment, Care, and Rehabilitation (NINAR) in São Luís, Maranhão State, Brazil, from April 2017 to February 2018. Participants in the study included parents or guardians of children with microcephaly. Data collection included structured and semi-structured interviews with 3 couples, 16 mothers, and 1 great-grandmother, totaling 20 interviews. The sample was defined by the saturation criterion, and content analysis was performed according to the thematic modality. Eighteen interviewees reported that the diagnosis had been disclosed to them inappropriately and traumatically, sometimes linked to a sense of "end of life" and dissociated from orientation on ways to cope with the situation and care for the child. The diagnosis of microcephaly was disclosed by physicians in 15 of the 20 cases. Three other cases were disclosed as follows: one by a nurse, one by the mother-in-law (who had learned of the diagnosis from the physician), and one by a health department employee. The other two did not receive the diagnosis: one couple learned of the microcephaly from the infant's Certificate of Life Birth and the other associated the child's problem with information broadcast on the media. Three thematic lines were analyzed: omission of the diagnosis; process of disclosure of the diagnosis; and anticipation of the prognosis. The ways diagnosis of microcephaly was disclosed to families influenced how they accepted and coped with the situation.

Resumen: Este artículo tiene como objetivo comprender cómo los padres de niños con microcefalia recibieron la comunicación del diagnóstico. Se trata de un estudio cualitativo, realizado en el Centro de Referencia Estatal en Neurodesarrollo, Asistencia y Rehabilitación de Niños (NINAR), en São Luís, Maranhão, Brasil, durante el período de abril de 2017 a febrero de 2018. Participaron en el estudio los responsables de niños con microcefalia. Las técnicas de recogida de datos fueron entrevistas estructuradas y semiestructuradas con 3 parejas, 16 madres y 1 bisabuela, totalizando 20 entrevistas. La muestra se definió por el criterio de saturación y se realizó un análisis de contenido de modalidad temática. Para los 18 entrevistados, la forma de la comunicación fue considerada inadecuada y traumática, algunas veces vinculada al sentido de "fin de la vida" y disociada de orientaciones sobre las formas de enfrentar la situación y cuidar del hijo. El diagnóstico de microcefalia fue proporcionado por médicos en 15 de los 20 casos y en tres casos: por una enfermera, por la suegra (que lo supo por el médico) y por una funcionaria de la Secretaría de Salud. Los otros dos no recibieron diagnóstico: una pareja supo que era microcefalia por la declaración de nacido vivo (DNV) y otra asoció el problema del hijo con la información a través de los medios de comunicación. Fueron tres los ejes temáticos analizados: omisión del diagnóstico; proceso de comunicación del diagnóstico y anticipación de pronóstico. Las formas de comunicación del diagnóstico de la microcefalia a los familiares influenciaron en las formas de aceptación y de saber cómo enfrentarse a la situación.

Vivências de mulheres: mães de crianças com Síndrome Congênita do Zika vírus / Women´s experiences; mothers of children with congenital Zika Virus Syndrome

Esta pesquisa advém das vivências de mulheres - mães que na gravidez contraíram o Zika vírus e geraram filhos com a Síndrome Congênita do Zika vírus, doença ainda em investigação por se tratar de uma infecção conhecida no Brasil no ano de 2015, causada por um arbovírus do gênero Flavivirus, família Flaviviridae, e propagada por um mosquito já endêmico no país, o Aedes aegypti. A elevada ocorrência de casos levou a Organização Mundial de Saúde a declarar em 2016, "situação de emergência de importância internacional", pois trouxe repercussões que vão muito além da Saúde Pública. Considerando a incidência alarmante e incerteza do prognóstico, é diante da suspeita e/ou confirmação da doença, que a família se depara com o inesperado e tem a necessidade concreta de alterar os seus planos e sonhos, a fim, de se reestruturar para a nova situação apresentada. Dentro desse contexto, sabendo que a descoberta da malformação da criança é uma experiência traumática, defende-se a tese de que as mulheres - mães de crianças com a Síndrome Congênita do Zika vírus vivenciam situações de vulnerabilidades e tensões, criam estratégias de enfrentamento e se fortalecem perante a adversidade, favorecendo a adaptação. Trata-se de uma pesquisa de abordagem qualitativa, com investigação interpretativa, realizada em um Centro Especializado em Reabilitação, no município de Campina Grande ­ PB, no período de junho a novembro de 2017, que teve como objetivo compreender as vivências de mulheres - mães que tiveram filhos com a Síndrome Congênita do Zika vírus. A pesquisa de campo foi realizada por meio de uma entrevista com um roteiro de caráter semiestruturado e construção de genograma e ecomapa como instrumentos complementares, bem como anotações em um diário de campo. O Modelo de Resiliência, Estresse, Ajustamento e Adaptação Familiar proposto por McCubbin e McCubbin foi adotado como referencial teórico da pesquisa. Participaram da pesquisa 40 mães de crianças com a Síndrome Congênita do Zika vírus de diferentes cidades do estado da Paraíba. Foi utilizada a técnica de Análise do Conteúdo do tipo temática proposta por Bardin, que originou cinco artigos: "Síndrome Congênita do Zika vírus: conhecimento e forma da comunicação do diagnóstico; Interferência da vida cotidiana no enfrentamento materno frente à Síndrome Congênita do Zika vírus; Demandas, vulnerabilidades e acúmulos de tensões associadas à Síndrome Congênita do Zika vírus"; Filho especial, mãe especial: o sentido da força de mães de crianças com a Síndrome Congênita do Zika vírus; e estratégias de mulheres e familiares no enfrentamento da Síndrome Congênita do Zika vírus". A partir de estratégias utilizadas pelas mulheres e seus familiares, mesmo num contexto social de fragilidades, conseguiram se reorganizar e se adaptaram à nova situação. A compreensão sobre essas vivências dará subsídios aos profissionais de saúde que lidam diretamente com essas mulheres nesse contexto para prestarem uma assistência qualificada, sendo essencial na orientação do cuidado, e possivelmente favorecer o enfrentamento e a adaptação delas e de suas famílias e das novas famílias que poderão vir a ter filhos com a Síndrome Congênita do Zika vírus.(AU)

This research comes from the experiences of women - mothers who contracted the Zika Virus during pregnancy and generated children with Congenital Zika Virus Syndrome, a disease still under investigation because it is an infection known in Brazil only in 2015, caused by an arbovirus of Flavivirus genus, Flaviviridae family, and propagated by a mosquito already endemic in the country, the Aedes aegypti. The high occurrence of cases led the World Health Organization to declare an "emergency situation of international importance" in 2016, as it has repercussions that go far beyond Public Health. Considering the alarming incidence and uncertainty of the prognosis, it is in the face of suspicion and/or confirmation of the disease that the family faces the unexpected and has a concrete need to change their plans and dreams in order to restructure into the new presented situation. Within this context, knowing that the discovery of child malformation is a traumatic experience, we defend the thesis that women - mothers of children with Congenital Zika Virus Syndrome - experience situations of vulnerability and tension, create coping strategies and strengthen themselves in the face of adversity, favoring adaptation. This is a research of a qualitative approach and with interpretative investigation, conducted in a Specialized Center for Rehabilitation, in the city of Campina Grande - PB, from June to November 2017, which aimed to understand the experiences of women - mothers of children with Congenital Zika Virus Syndrome. The research field was conducted by means of an interview with a semi-structured script and genogram and ecomap construction as complementary instruments, as well as notes in a field diary. The Resilience, Stress, Adjustment and Family Adaptation Model proposed by McCubbin and McCubbin was adopted as the theoretical framework of the research. Forty mothers of children with Congenital Zika Virus Syndrome from different cities of the state of Paraíba participated in the research. The thematic-type Content Analysis technique proposed by Bardin was used, which originated five articles: "Congenital Zika Virus Syndrome: knowledge and form of communication of the diagnosis; Interference of daily life in maternal coping with Congenital Zika Virus Syndrome; Demands, vulnerabilities and accumulation of tensions associated with Congenital Zika Virus Syndrome"; Special child, special mother: the sense of the strength of mothers of children with Congenital Zika Virus Syndrome; and strategies of women and their families in coping with Congenital Zika Virus Syndrome". From strategies used by the women and their families, even in a social context of weaknesses, they were able to reorganize and adapt to the new situation. Understanding these experiences will provide support to the health professionals who deal directly with these women in this context to provide qualified care, being essential in the orientation of care, and possibly favoring the coping and adaptation of the women, of their families, and of the new families who may have children with Congenital Zika Virus Syndrome.(AU)

Microcephaly and family dynamics: fathers' perceptions of their children's disability. / Microcefalia e dinâmica familiar: a percepção do pai frente à deficiência do filho.

The family is a key pillar in an individual's psychological life, influencing behavior patterns, feelings of social belonging, and emotional health. The family structure can be shaken by the arrival of an infant with microcephaly associated with the Zika virus, defined in newborn boys as head circumference less than or equal to 31.9cm and in newborn girls as less than or equal to 31.5cm. The study analyzes the impact of an infant's diagnosis of microcephaly on the paternal function. Interviews were held with five fathers of children with microcephaly from three communities in rural Paraíba State, Brazil. The instruments were a questionnaire and semi-structured interview that was taped and submitted to thematic and categorial analysis. All five fathers were participating in the routine care of their children, with this involvement "conditioned" by their work as well as by the disability's severity. Some aspects were common to all five fathers, such as their reaction to the diagnosis and their concerns.

A família é um dos pilares da vida psicológica dos indivíduos, influenciando os padrões de comportamento, o sentimento de pertencimento social e a saúde psíquica. Tal estrutura pode ser abalada quando há um membro com microcefalia associada ao Zika vírus, que ocorre quando o menino apresenta perímetro cefálico igual ou inferior a 31,9cm, e a menina, igual ou inferior a 31,5cm. Esta pesquisa visa analisar o impacto do diagnóstico de microcefalia do bebê na função paterna. Para tanto, foram realizadas entrevistas com cinco pais de crianças com microcefalia em três municípios do interior da Paraíba, Brasil. Os instrumentos foram questionário e entrevista semiestruturada gravada, submetida à análise temático-categorial. Todos os pais entrevistados participam da rotina dos filhos, sendo esse envolvimento "condicionado" pelo trabalho, bem como pela severidade da deficiência. Alguns aspectos são comuns, como reação ao diagnóstico e preocupações.

La familia es uno de los pilares de la vida psicológica de los individuos, influenciando patrones de comportamiento, sentimiento de pertenencia social y salud psíquica. Esta estructura puede desmoronarse cuando existe un miembro con microcefalia, asociada al virus Zika, que se produce cuando el niño presenta un perímetro cefálico igual o inferior a 31,9cm, y la niña, igual o inferior a 31,5cm. El objetivo de esta investigación es analizar el impacto del diagnóstico de microcefalia del bebé en el desempeño paterno. Para tal fin, se realizaron entrevistas a cinco padres de niños con microcefalia en tres municipios del interior de Paraíba, Brasil. Los instrumentos fueron: cuestionario y entrevista semiestructurada grabada, sometida a un análisis categorial temático. Todos los padres entrevistados participaron en la rutina de los hijos, encontrándose su implicación "condicionada" por el trabajo, así como por el grado de severidad de la discapacidad. Algunos aspectos son comunes como la reacción al diagnóstico y las preocupaciones.

Skills attained by infants with congenital Zika syndrome: Pilot data from Brazil.

The recent Zika outbreak and its link to microcephaly and other birth defects in infants exposed in utero have garnered widespread international attention. Based on the severity of birth defects the extent of impairment in these infants is expected to be profound; however, virtually nothing is known regarding the developmental and behavioral sequela of congenital Zika syndrome. This pilot study collected parent-reported patterns of development and sleep in 47 infants with confirmed congenital Zika syndrome who are being followed for clinical services at the Altino Ventura Foundation (FAV) in Recife, Brazil. With assistance from clinicians at FAV, caregivers completed Brazilian Portuguese versions of the Ages and Stages Questionnaire, 3rd edition (ASQ-3) and the Brief Infant Sleep Questionnaire (BISQ). All infants were between 13-22 months of age at the time of the assessment. At 16 months of age, none of the children displayed age appropriate developmental skills. Most (~ 75%) mastered some communication and gross motor skills at around a 6-8-month level. Communication and gross motor skills were relative strengths for the sample, while problem-solving and fine motor skills were relative weaknesses. Sleep was noted to be a problem for around 18% of the sample. In utero exposure to the Zika virus will have lifelong consequences for affected children and their families. Understanding the developmental and behavioral trajectories of affected infants will help identify appropriate family supports to improve quality of life.

Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.

AIMS: To identify the pathogenic mutation underlying microcephaly primary hereditary (MCPH) in a large consanguineous Pakistani family. METHODS: A five-generation family with an autosomal recessive transmission of MCPH was recruited. Targeted next-generation DNA sequencing was carried out to analyze the genomic DNA sample from the proband with MCPH using a previously designed panel targeting 46 known microcephaly-causing genes. Sanger sequencing was performed to verify all identified variants. RESULTS: We found a novel homozygous nonsense mutation, c.7543C>T, in the ASPM gene. This mutation led to the substitution of an arginine with a stop codon at amino acid residue 2515 (p.Arg2515Ter). The mutation cosegregated with the MCPH phenotype in all affected and obligate carrier family members, but was not present in public databases (dbSNP147, Exome Variant Server, the 1000 Genomes Project, Exome Aggregation Consortium, Human Gene Mutation Database, and ClinVar) or 200 control individuals. The c.7543C>T mutation in ASPM may activate nonsense-mediated mRNA decay pathways and could underlie the pathogenesis of MCPH through a loss-of-function mechanism. CONCLUSIONS: The c.7543C>T (p.Arg2515Ter) mutation in ASPM is a novel pathogenic mutation for the typical MCPH phenotype in this family.

Microcefalia e dinâmica familiar: a percepção do pai frente à deficiência do filho / Microcefalia y dinámica familiar: la percepción del padre frente a la discapacidad del hijo / Microcephaly and family dynamics: fathers' perceptions of their children's disability

Resumo: A família é um dos pilares da vida psicológica dos indivíduos, influenciando os padrões de comportamento, o sentimento de pertencimento social e a saúde psíquica. Tal estrutura pode ser abalada quando há um membro com microcefalia associada ao Zika vírus, que ocorre quando o menino apresenta perímetro cefálico igual ou inferior a 31,9cm, e a menina, igual ou inferior a 31,5cm. Esta pesquisa visa analisar o impacto do diagnóstico de microcefalia do bebê na função paterna. Para tanto, foram realizadas entrevistas com cinco pais de crianças com microcefalia em três municípios do interior da Paraíba, Brasil. Os instrumentos foram questionário e entrevista semiestruturada gravada, submetida à análise temático-categorial. Todos os pais entrevistados participam da rotina dos filhos, sendo esse envolvimento "condicionado" pelo trabalho, bem como pela severidade da deficiência. Alguns aspectos são comuns, como reação ao diagnóstico e preocupações.

Resumen: La familia es uno de los pilares de la vida psicológica de los individuos, influenciando patrones de comportamiento, sentimiento de pertenencia social y salud psíquica. Esta estructura puede desmoronarse cuando existe un miembro con microcefalia, asociada al virus Zika, que se produce cuando el niño presenta un perímetro cefálico igual o inferior a 31,9cm, y la niña, igual o inferior a 31,5cm. El objetivo de esta investigación es analizar el impacto del diagnóstico de microcefalia del bebé en el desempeño paterno. Para tal fin, se realizaron entrevistas a cinco padres de niños con microcefalia en tres municipios del interior de Paraíba, Brasil. Los instrumentos fueron: cuestionario y entrevista semiestructurada grabada, sometida a un análisis categorial temático. Todos los padres entrevistados participaron en la rutina de los hijos, encontrándose su implicación "condicionada" por el trabajo, así como por el grado de severidad de la discapacidad. Algunos aspectos son comunes como la reacción al diagnóstico y las preocupaciones.

Abstract: The family is a key pillar in an individual's psychological life, influencing behavior patterns, feelings of social belonging, and emotional health. The family structure can be shaken by the arrival of an infant with microcephaly associated with the Zika virus, defined in newborn boys as head circumference less than or equal to 31.9cm and in newborn girls as less than or equal to 31.5cm. The study analyzes the impact of an infant's diagnosis of microcephaly on the paternal function. Interviews were held with five fathers of children with microcephaly from three communities in rural Paraíba State, Brazil. The instruments were a questionnaire and semi-structured interview that was taped and submitted to thematic and categorial analysis. All five fathers were participating in the routine care of their children, with this involvement "conditioned" by their work as well as by the disability's severity. Some aspects were common to all five fathers, such as their reaction to the diagnosis and their concerns.

Resuming the obsolete term "small head": when microcephaly occurs without cognitive impairment.

Microcephaly is defined as a head circumference measurement of 2 or 3 standard deviations below the mean for age and sex. However, distinguishing the value of -2 or -3 standard deviations as a cutoff is relevant in the clinical practice, since the limit of -3 standard deviations is more frequently associated with cognitive impairment. The use of ultrasound scans in pregnancy has allowed the identification of subjects with a measurement of the head circumference at the limit of the cutoff for gestational age, but who do not subsequently show cognitive delay. The same is true for newborns with a -2 to -3 standard deviations cutoff, and without anomalous clinical signs, for which a cognitive delay is not easily diagnosed. In this case, to define an infant as being affected by microcephaly (with a prognosis usually recognized as harmful) may be unnecessarily distressful for parents or caregivers. In the cases mentioned, resuming the word "small head" instead of microcephaly to define such subjects could be more appropriate and more appreciated.