Hearing Disorders in Congenital Toxoplasmosis: A Literature Review

Abstract Introduction Several studies show correlations between congenital toxoplasmosis and hearing loss, with a broad diversity of levels of hearing loss and specifications of hearing disorders. Objective To describe the studies found in the literature regarding hearing disorders in congenital toxoplasmosis. Data Synthesis A literature review was conducted on the Lilacs, SciELO, PubMed and Scopus databases by combining the following keywords: congenital toxoplasmosis and hearing. Based on this search strategy, 152 papers were found, the majority published on the Scopus and PubMed databases from1958 to 2015. After theapplication of the inclusion criteria, 8 articles published between 1980 and 2015 were included in the present study. Conclusion This review showed a moderate evidence of the association between hearing disorders and congenital toxoplasmosis, which is characterized by sensorineural hearing loss. However, there are gaps in the description of the specific characteristics of the type and level of hearing loss, or of other possible disorders involved in the auditory processing.

Hipoacusia neurosensorial secundaria a infecciones perinatales / Sensorioneural hearing loss secondary to perinatal infections / A perda auditiva neurossensoral secundária a infecções perinatais

Introducción: 1 a 2 de cada 1.000 recién nacidos tienen una pérdida auditiva neurosensorial significativa. De las deficiencias auditivas congénitas, el 50% resultan de infecciones en el embarazo y/o parto; como las provocadas por: Toxoplasmosis, rubéola, citomegalovirus, herpes y sífilis. Métodos: Se realizó una búsqueda bibliográfica sistemática de artículos utilizando bibliotecas virtuales y libros de texto de relevancia dentro de la especialidad. Resultados: La rubéola en mujeres susceptibles puede producir el síndrome de rubéola congénita. La sordera es la manifestación más frecuente de la enfermedad y es la secuela más importante. El 15% de los niños infectados por Citomegalovirus padecen una pérdida auditiva por daño coclear y alteraciones en el sistema nervioso central al nacer. Otro 15% pueden desarrollar luego del nacimiento hipoacusia, retardo mental o dificultades en el desarrollo del lenguaje y del aprendizaje. Aproximadamente el 80% de los recién nacidos infectados por toxoplasmosis son asintomáticos; el resto presentará manifestaciones clínicas de afectación sistémica incluyendo compromiso auditivo como parte del cuadro. La infección por Herpes simple suele ser devastadora en el recién nacido. Se ha descrito hipoacusia en más del 50% de los casos. La sordera se asocia frecuentemente con la sífilis congénita. Junto con la queratitis intersticial y las malformaciones dentarias, forma parte de la tríada de Hutchinson. Conclusiones: La hipoacusia es un problema de gran importancia en la infancia. Las infecciones agrupadas en el término TORCHS causan hipoacusia neurosensorial adquirida en forma prenatal, dando lugar a sorderas presentes al nacer o de desarrollo diferido o progresivo.

Introduction: 1 to 2 of every 1,000 newborns have significant sensorineural hearing loss. From all the congenital hearing empairments, 50% take place during pregnancy and/or childbirth; such as those caused by: toxoplasmosis, rubella, cytomegalovirus, herpes and syphilis. Methods: A systematic literature research was performed using virtual libraries and relevant specialty textbooks. Results: Rubella in susceptible women may cause congenital rubella syndrome. Deafness is the most common manifestation of the disease and is the most important sequel. 15% of those children infected with Cytomegalovirus children suffer hearing loss from cochlear damage and alterations in the central nervous system at birth. Another 15% can then develop birth hearing loss, mental retardation or difficulties in language development and learning. Approximately 80% of newborns infected with toxoplasmosis are asymptomatic; the rest will present clinical manifestations of systemic disease including hearing impairment as part of the picture. Herpes simplex infection is devastating in the new born. Hearing loss has been described in over 50% of cases. Deafness is often associated with congenital syphilis. Along with interstitial keratitis and dental malformations, it is part of the Hutchinson triad. Conclusions: Hearing loss is a major problem in childhood. Gathered as TORCHS acquired infections cause sensorineural hearing loss prenatally, resulting in hearing loss present at birth or deferred or progressive development.

Introdução: 1 a 2 em cada 1.000 recém-nascidos têm perda auditiva neurossensorial significativo. Das deficiências auditivas congênitas, 50% das infecções resultar em gravidez e / ou parto; tais como aquelas causadas por: toxoplasmose, rubéola, citomegalovírus, herpes e sífilis. Métodos: Uma busca sistemática da literatura foi realizada utilizando bibliotecas virtuais e livros relevantes no art. Resultados: A rubéola em mulheres suscetíveis pode causar a síndrome da rubéola congênita. A surdez é a manifestação mais comum da doença e é a sequela mais importante. 15% das crianças infectadas com Citomegalovírus sofrer perda de audição de danos e alterações coclear no sistema nervoso central no nascimento. Outros 15% podem desenvolver perda auditiva nascimento, retardo mental ou dificuldades no desenvolvimento da linguagem e aprendizagem. Cerca de 80% dos recém-nascidos infectados com toxoplasmose é assintomática; o resto vai apresentar manifestações clínicas da doença sistêmica, incluindo a deficiência auditiva como parte da imagem. Infecção Herpes simplex geralmente devastadores no recém-nascido. A perda de audição tem sido descrita em mais de 50% dos casos. A surdez é frequentemente associada a sífilis congênita. Junto com ceratite intersticial e malformações dentárias, faz parte da tríade Hutchinson. Conclusões: A perda auditiva é um problema grave na infância. Agrupados nas infecções TORCHS causam perda auditiva neurossensorial pré-natal, resultando em perda auditiva presente no nascimento ou em diferido ou desenvolvimento progressivo.

Presentación de un caso con toxoplasmosis congénita / Case presentation: congenital Toxoplasmosis

La toxoplasmosis, enfermedad conocida como “Parasitosis del Siglo XX”, cobra importancia en los neonatos cuyas madres se infectaron por primera vez durante la gestación. El objetivo del trabajo es presentar el caso de un recién nacido de 40 semanas con toxoplasmosis congénita. El peso al nacer fue de 3 500 g, Apgar 2/3. Requirió intubación orotraqueal y resucitación cardiopulmonar inmediata. Hubo presencia de líquido amniótico meconial, tiempo de rotura de membranas de 14 h, antecedentes maternos de sepsis vaginal, y con un descenso detenido de la presentación lo que llevó a cesárea de urgencia. A las 4 h de vida desarrolla cuadro de coagulación intravascular diseminada, acompañado de hipotonía marcada, mirada fija sin respuesta pupilar ni esfuerzo respiratorio. A las 48 h aparece insuficiencia renal aguda con evolución rápida a fallo múltiple de órganos. Ultrasonido de cráneo con aumento de la ecogenicidad cerebral, borramiento de las circunvoluciones cerebrales y ventrículos laterales dilatados. Evolución tórpida, sin recuperación neurológica, alteraciones del medio interno y trastornos del equilibrio ácido-base e hidroelectrolítico, empeoramiento progresivo de la función cardiaca y respiratoria, fallece a los 21 días de vida.

Toxoplasmosis, known as the "Twentieth century parasites disease", becomes important in infants whose mothers were infected for the first time during pregnancy. The aim of this work is to present the case of a 40 weeks newborn with congenital toxoplasmosis. The birth weight was 3 500 g, Apgar 2/3. Immediate endotracheal intubation and cardiopulmonary resuscitation was required. There were meconium, 14-hour membrane rupture time, maternal history of vaginal sepsis, detained presentation prompting emergency caesarean section. At 4 hours of life, disseminated intravascular coagulation develops, accompanied by marked hypotonia, staring with no pupillary response or respiratory effort. At 48 hours, acute renal failure appears with rapid progression of multiple organ failure. Skull ultrasound showed increased brain echogenicity, effacement of the cerebral convolutions and dilated lateral ventricles. Torpid evolution, with no neurological recovery, internal disorders and disorders of acid-base and electrolyte balance, progressive deterioration of the cardiac and respiratory functions, dies at 21 days of life. Decease occurs at 21 days of life.

Propriedades psicométricas do Children's Visual Function Questionnaire adaptado para avaliação de qualidade de vida relacionada à visão de crianças com toxoplasmose congênita / Psychometric properties of the Children's Visual Function Questionnaire adapted to assess vision-related quality of life in children with congenital toxoplasmosis

Introdução: A elevada prevalência da toxoplasmose congênita (TC) no Brasil, verificada também no estado de Minas Gerais, associada ao maior comprometimento ocular observado nas crianças brasileiras comparadas às europeias; e a evolução de muitos desses indivíduos para a baixa visão (BV), nos remetem à necessidade de compreender o impacto da perda visual na qualidade de vida em uma coorte de crianças infectadas identificadas no período neonatal e tratadas com antiparasitários durante o primeiro ano de vida. Objetivo: Adaptar o questionário Children's Visual Function Questionnaire (CVFQ) à realidade sociocultural de crianças brasileiras com toxoplasmose congênita e investigar as propriedades psicométricas para mensuração da qualidade de vida (QV) relacionada à visão nesses pacientes; descrever as lesões retinocoroideanas observadas em uma coorte de crianças pré-escolares com TC em Minas Gerais; avaliar quantitativamente o déficit visual e investigar sua correlação com a pontuação na percepção da QV relacionada à perda visual (CVFQ7-BR-toxo). Método: Estudo epidemiológico transversal aninhado, em uma coorte de 142 crianças acompanhadas prospectivamente nos Serviços de Infectologia Pediátrica e Oftalmologia do Hospital das Clínicas da UFMG. Questionários foram aplicados aos pais e cuidadores para avaliar a percepção sobre a QV de suas crianças com TC e para verificar a situação socioeconômica das famílias. Oftalmologistas do setor de uveite avaliaram a retina das crianças e descreveram as lesões de retinocoroidite quanto à localização, número de lesões, tamanho e lateralidade. No setor de baixa visão, oftalmologistas avaliaram a acuidade visual. Foram usadas técnicas de estatística multivariada para avaliar as propriedades psicométricas da escala de QV e testes de Kruskal Wallis e Mann Whitney para a comparação dos escores medianos da escala de QV em crianças com visão normal, perda visual leve e baixa visão. O estudo foi aprovado pelo Comitê de Ética em Pesquisa da UFMG. Resultado: Adaptações no CVFQ versão brasileira deram origem ao CVFQ7-BR-toxo, questionário para avaliar a percepção de pais/cuidadores sobre qualidade de vida relacionada a baixa visão de crianças com toxoplasmose congênita pré-escolares. Na análise fatorial exploratória o resultado do teste Kaiser-Meyer-Olkin Measure of Sampling Adequacy (KMO) foi de 0,74, indicando boa adequabilidade do modelo fatorial. Seis componentes (fatores) extraídos correspondem a 46,3% da variância total explicada, e são compostos por itens com coeficiente de saturação (carga fatorial) maior ou igual a 0,45. Pela descrição, estrutura de variabilidade, e interpretação do agrupamento dos itens do questionário CVFQ adaptado (CVFQ7-BR-toxo) identificaram-se seis subescalas: saúde geral; capacidade visual; desempenho visual/visão funcional; comportamento social e pessoal, impacto na família e tratamento. A homogeneidade das medidas para o construto QV no CVFQ adaptado foi avaliada pela consistência interna das subescalas. As subescalas Desempenho visual - visão funcional e o Impacto na família se mostraram adequadas, com coeficiente alfa de Cronbach de 0,75 e 0,77 respectivamente. As subescalas comportamento pessoal e social e, tratamento apresentaram valores de alfa de Cronbach menores que 0,7 (0,68 e 0,61 respectivamente). A correlação entre as subescalas e a escala global foram todas significativas (p-valor <0,001) variando de 0,42 a 0,75. As correlações item-escala globais foram significativas (p-valor <0,01) e maiores do que 0,20, sendo estes valores considerados aceitáveis. Verificou-se a validade discriminante do instrumento pelas diferenças significativas (p<0,005) na comparação das escalas do CVFQ7-BR-toxo para escores relatados pelo pai/cuidador de crianças com e sem baixa visão. A validação convergente foi verificada pela correlação (r=0,58; p<0,001) entre o escores globais do CVFQ7-BR-toxo e do PedsQL, com resultado moderado. Para análise dos exames clínicos oftalmológicos, das 142 crianças, duas foram excluídas por não terem realizado todos os exames. Das 140 crianças, 87,1% (121/139) apresentaram pelo menos uma lesão de retinocoroidite e, dentre elas, 20,7% (25/121) foram diagnosticadas com baixa visão (BV). A retinocoroidite esteve presente em ambos os olhos de 81,0% (98/121) das crianças com lesões, sendo que 25,5% (25/98) destas tinham BV. Lesão macular (foveal e/ou extrafoveal) em ambos os olhos ocorreu em 43,9% (43/98) das crianças e 51,2% (22/43) destas apresentaram BV. Pelo menos 50% das crianças com BV apresentaram lesões com tamanho médio superior a 3,0 diâmetros de disco óptico (DD). Ausência de lesão ocorreu em apenas 12,9% (18/140) das crianças. Na percepção dos pais cuidadores (CVFQ7-BR-toxo) das crianças diagnosticadas com BV, os escores medianos foram menores nas dimensões capacidade visual (p=0,002), desempenho funcional/visão funcional (p=0,002), impacto na família (p=0,001) e na QV global (p=0,009) quando comparados às crianças com perda visual leve e com visão normal. Conclusão: As propriedades psicométricas do CVFQ7-BR-toxo se mostraram adequadas quanto à validade do construto QV. O instrumento foi capaz de registrar o impacto no comprometimento da visão funcional e na família de crianças com toxoplasmose congênita. Na avaliação oftalmológica dessa população foram observadas lesões retinocoroideanas de maior gravidade, por serem em sua maioria maculares, múltiplas, bilaterais, resultando em comprometimento da função visual e menor acuidade visual. Na percepção dos pais e cuidadores sobre a QV relacionada a baixa visão, estas crianças apresentaram pior capacidade visual, pior desempenho funcional / visão funcional, com maior impacto nas suas famílias e piora da qualidade de vida global. Esses resultados podem subsidiar políticas para melhor controle e prevenção da toxoplasmose congênita.

Introduction: The high prevalence of congenital toxoplasmosis (CT) in Brazil, in addition to the high burden of ocular involvement in infected individuals, evolving to low vision (LV) in many of them, highlights the importance of assessing their quality of life (QOL). Objective:To adapt the Children's Visual Function Questionnaire (CVFQ) to the sociocultural reality of Brazilian children with CT, and to investigate the psychometric properties to measure vision-related quality of life (QOL) for these patients; to characterize retinochoroidal changes in a cohort of preschool children with CT in Minas Gerais; to quantitatively evaluate the visual deficit and to investigate its correlation with QOL perception scores (CVFQ7-BR-toxo instrument).Methods: Cross-sectional epidemiological study with nested cohort of 142 children prospectively followed at the Pediatric Infectious Disease and Ophthalmology Services of Hospital das Clínicas da Universidade Federal de Minas GeraisQuestionnaires were applied to parents and carers to evaluate QOL perception of their children with CT and to characterize the socioeconomic status of their families. Number, location, size and laterality of retinochoroidal lesions were recorded. Best-corrected visual acuity was also assessed. Multivariate statistical techniques were used to evaluate psychometric qualities of QOL scale. Kruskal Wallis and Mann Whitney test were employed for comparison of median scores of the QOL scale in children with normal visual, mild vision loss and low vision. Results: Adaptations in the CVFQ-Brazilian version originated the CVFQ7-BR-toxo, a questionnaire to evaluate perception of parents/carers about vision-related QOL of preschool children with CT. In the exploratory factor analysis, result of KaiserMeyer-Olkin Measure of Sampling Adequacy test (KMO) was 0.74, indicating good suitability of the factor model.Six extracted components (factors) explained 46.3% of total variance, consisting of items with saturation coefficient (factor load) ≥ 0.45. Six subscales were identified after description, variability structure and interpretation of grouping of items of CVFQ7-BR-toxo: Overall Health; Visual Acuity; Visual Performance/Functional Vision; Individual and Social Behavior, Impact on Family, and Treatment. Homogeneity of measures for the QOL construct in the adapted CVFQ was evaluated by internal consistency of the subscales: Subscales Visual Performance/Functional Vision and Impact on Family showed to be adequate, with Cronbach's alpha of 0.75 and 0.77 respectively.Subscales Individual and Social Behavior and Treatment showed Cronbach's alpha coefficient smaller than 0.7 (0.68 and 0.61 respectively). The correlations between subscales and the global scale were all statistically significant (p-value <0.001) ranging from 0.42 to 0.75. The global item-scale correlations were also significant (p-value <0.01) and greater than 0.20, with these values being considered acceptable. Discriminant validity of the instrument by significant differences (p <0.005) was verified in the comparison of CVFQ7-BR-toxo scales to the scores reported by the parent/carers of children with and without low vision.The convergent validity was verified by the moderate correlation (r = 0.58; p <0.001) between the overall scores CVFQ7- BR-toxo and PedsQL. For the analysis of the clinical examinations of the 142 children, two were excluded because they did not have all the exams. Of the 140 children, 87.1% (121/139) had at least one retinochoroidal lesion. Among them, 20.7% (25/121) were diagnosed with LV. Retinochoroiditis was found in both eyes in 81.0% (98/121), and 25.5% (25/98) of these had LV. Macular (foveal and/or extrafoveal) lesions in both eyes occurred in 43.9% (43/98); 51.2% (22/43) of these children had low LV. At least 50% of children with LV presented retinochoroidal lesions with an average size > 3 optic disc diameter. Absence of retinochoroidal lesions was recorded in only 12.9% (18/140) of children. In the perception of carers parents (CVFQ7-BR-toxo) of children diagnosed with LV, median scores were lower for visual ability dimensions (p = 0.002), functional performance- visual function (p = 0.002), impact on family (p = 0.001) and overall QOL (p = 0.009) when compared to those of children with mild visual loss and with normal vision. Conclusion: CVFQ7-BR-toxo psychometric properties were appropriate concerning the validity of the QOL construct. The questionnaire was able to register the impact of visual disability on families of children with CT. Retinochoroiditis, was more severe, with frequent multiple, bilateral and macular lesions, resulting in impaired visual function. According to QOL perception of parents and carers, children with LV presented worse scores for visual capacity, functional performance/functional vison, with greater impact on their families and decreased overall quality of life. These results can support policies for better control and prevention of CT.

Seguimiento clínico y serológico de recién nacidos con IgM materna reactiva para toxoplasmosis. Policlínica de Infectología pediátrica. Hospital Escuela del Litoral, Paysandú. Años 2008-2013 / Clinical and serologic follow-up of newborns with maternal Igm toxoplasmosis positive. Pediatrics Infectious Diseases Polyclinic

Introducción: la infección por Toxoplasma gondii durante el embarazo puede resultar en graves complicaciones para el feto y dejar importantes secuelas en el recién nacido (RN). El objetivo del estudio fue realizar un seguimiento clínico y serológico de los recién nacidos cuyas madres tenían IgM reactiva para toxoplasmosis en el embarazo y analizar las características clínicas y serológicas de los que presentaron toxoplasmosis congénita (TC). Material y método: estudio descriptivo, prospectivo y longitudinal de RN cuyas madres tuvieron serología IgM reactiva en el embarazo y que fueron derivados para su seguimiento a la Policlínica de Infectología Pediátrica del Hospital de Paysandú en el período junio de 2008 a junio de 2013. Resultados: de los 51 RN evaluados, 50 fueron de término con una media de peso al nacer de 3.120 g y 5 fueron pequeños para la edad gestacional (PEG). Dos presentaron microcefalia y dos estuvieron expuestos a otras infecciones durante el embarazo (sífilis y virus de la inmunodeficiencia humana). De los 42 (82,3%) que completaron su seguimiento, en siete se diagnosticó TC (13,7%) y se descartó la infección en 35 (68,5%). En éstos la media de desaparición de la IgG fue de 6,2 meses. Tres de los infectados fueron sintomáticos y tenían IgM reactiva al nacer. Cuatro presentaron secuelas en la evolución. De ocho RN a los que se les indicó tratamiento, tres lo completaron. En 6 (85,7%) de los infectados se confirmó la seroconversión materna durante el embarazo. Conclusiones: si bien la TC no es muy frecuente en nuestro país, la morbilidad es muy importante. La presencia de seroconversión materna obliga a estudiar y tratar al RN hasta que se descarte la infección. La serología en el RN demuestra, en nuestro medio, una escasa sensibilidad y a falta de otras técnicas obliga a realizar el seguimiento clínico y serológico con IgG durante el primer año de vida.

Introduction: Toxoplasma gondii infection during pregnancy can result in serious complications for the fetus and causes serious sequelae in the newborn. The study aimed to conduct a clinical and serological follow-up of newborns whose mothers were toxoplasma IgM positive during pregnancy and to analyze the clinical and serological evolution of those with congenital toxoplasmosis (CT) features. Method: descriptive, prospective, longitudinal study of newborns whose mothers were toxoplasma IgM positive during pregnancy and who were referred for follow-up to the Pediatrics Infectious Diseases Polyclinic. Escuela del Litoral Hospital, Paysandú, from June, 2008 through June, 2013. Results: out of 51 newborns assessed, 50 were term newborns with a mean birth weight of 3,120 g and 5 were small for gestational age (SGA). Two had microcephaly and 2 were exposed to other infections during pregnancy (syphilis and human immunodeficiency virus). Seven (13.7%) of the 42 (82.3%) newborns who completed follow-up CT were diagnosed with toxoplasmosis, and infection was ruled out in 35 (68.5%) newborns. In the latter half of the disappearance of IgG was 6.2 months. Three (43%) were infected symptomatic and had reactive IgM at birth. Four (57%) evidenced sequelae in evolution. Eight newborns were prescribed treatment, 3 of them completed it. In six (85.7%) of them infected maternal seroconversion during pregnancy was confirmed. Conclusions: although CT is not very common in our country, the disease is very important. The presence of maternal seroconversion forced to study and treat the newborns until infection is ruled out. Serology in the newborns demonstrates, in our environment, poor sensitivity and lack of other techniques necessary to undertake clinical and serological follow-up of IgM during the first year of life.

Congenital toxoplasmosis in a reference center of Paraná, Southern Brazil

This study describes the characteristics of 31 children with congenital toxoplasmosis children admitted to the University Hospital of Londrina, Southern Brazil, from 2000 to 2010. In total, 23 (85.2%) of the mothers received prenatal care but only four (13.0%) were treated for toxoplasmosis. Birth weight was <2500 g in 37.9% of the infants. During the first month of life, physical examination was normal in 34.5%, and for those with clinical signs and symptoms, the main manifestations were hepatomegaly and/or splenomegaly (62.1%), jaundice (13.8%), and microcephaly (6.9%). During ophthalmic examination, 74.2% of the children exhibited injuries, 58.1% chorioretinitis, 32.3% strabismus, 19.4% microphthalmia, and 16.2% vitreitis. Anti-Toxoplasma gondii IgM antibodies were detected in 48.3% of the children. Imaging brain evaluation was normal in 44.8%; brain calcifications, hydrocephaly, or both conditions were observed in 27.6%, 10.3%, and 17.2%, respectively, of the patients. Patients with cerebrospinal fluid protein > 200 mg/dL presented more brain calcifications (p = 0.0325). Other sequelae were visual impairment (55.2% of the cases), developmental delay (31.0%), motor deficit (13.8%), convulsion (27.5%), and attention deficit (10.3%). All patients were treated with sulfadiazine, pyrimethamine, and folinic acid, and 55.2% of them exhibited adverse effects. The results demonstrate the significance of the early diagnosis and treatment of toxoplasmosis during pregnancy to reduce congenital toxoplasmosis and its consequences.

A influência do familiar na aquisição de habilidades funcionais da criança com defi ciência visual / The family’s influence on the acquisition of functional abilities in children with visual impairments

A família exerce papel fundamental no desenvolvimento da criança com deficiência visual e para que ocorram cuidados adequados é preciso que sejam feitas intervenções nesse núcleo.Este estudo se propõe a identificar a influência do familiar na aquisição de habilidades funcionais da criança com visão subnormal. Estudo quantitativo de caráter transversal, que utilizou o Inventário de Avaliação Pediátrica de Incapacidade para coleta de dados. Foi aplicado o questionário com o cuidadore o julgamento clínico com dois profissionais envolvidos no atendimento à criança. O sujeito de pesquisa tinha cinco anos e diagnóstico de toxoplasmose congênita. Como resultado, obteve-se diferença entre as respostas dos profissionais e do familiar, evidenciando que o ambiente favorece ou inibe as ações realizadaspela criança. A influência do familiar sobre o fi lho mostrou-se limitadora nas situações de autocuidado, mobilidade e função social. A superproteção familiar pode resultar em dependência e falta de autonomia da criança, desinteresse em suas atividades, interferências em seu desenvolvimento emocional e social, além de conseqüências à sua estimulação e utilização da visão funcional.

The family plays a fundamental role in the development of children with visual impairment and to occur their appropriate care interventions in this core are needed. This study aims to identify the influence of the family on the acquisition of functional abilities of children with low vision. Cross-sectional study, that used the Pediatric Evaluation of Disability Inventory for data collection. The questionnaire was administered to the caregiver and clinical judgment with two professionals involved in the care of children selected. The research subject was five years old and diagnosis of congenital toxoplasmosis. As results,obtained by the difference between the responses of professionals and family, showed that the environment encourages or inhibits child actions. The infl uence of the child’s family was limiting in situations of self-care, mobility and social function. Theoverprotection can take the child to dependence and lack of autonomy, lack of interest in activities, interference in social and emotional development, and consequences to the stimulation anduse of functional vision.

Submacular hemorrhage secondary to congenital toxoplasmosis / Hemorragia submacular secundária à toxoplasmose congênita

We report the case of a patient with congenital toxoplasmosis and submacular hemorrhage caused by a neovascular membrane who underwent an intravitreal injection of C3F8 and bevacizumab, and had a good visual recovery.

Relatamos o caso de uma paciente com toxoplasmose congênita e hemorragia submacular por uma membrana neovascular submetida à injeção intravítrea de C3F8 e bevacizumabe, com boa recuperação visual.

Colestasis neonatal por toxoplasmosis congénita: A propósito de un caso clínico / Neonatal cholestasis due to congenital toxoplasmosis: Case report

La colestasis neonatal es la forma de presentación de diversas enfermedades; es necesario un diagnóstico etiológico temprano, ya que el tratamiento antes de los 60 días de vida cambia el pronóstico en los niños que presentan atresia biliar. La toxoplasmosis congénita puede ser asintomática en el recién nacido, o presentar fundamentalmente alteraciones neurológicas, oftalmológicas y hepáticas (hepatomegalia, ictericia no colestásica). La colestasis neonatal secundaria a toxoplasmosis congénita no es una situación informada con frecuencia. Se presenta el caso de un lactante con colestasis neonatal cuya etiología responde a una toxoplasmosis congénita, con el objetivo de discutir las difcultades en establecer el diagnóstico etiológico y las indicaciones de realizar estudios invasivos, como la biopsia hepática, en estas situaciones.

Neonatal cholestasis is the manifestation of many different diseases. Its early etiological diagnosis is crucial, since treatment before 60 days of life changes the prognosis in children with biliary atresia. Congenital toxoplasmosis can be asymptomatic in the newborn, or have mainly neurological, ophthalmological or gastrointestinal symptoms (hepatomegaly, cholestatic jaundice). Neonatal cholestasis secondary to congenital toxoplasmosis is not a situation frequently reported. We report the case of an infant with neonatal cholestasis due to a congenital toxoplasmosis, in order to discuss the diffculties in establishing the etiological diagnostic and to review the indications of invasive studies such as liver biopsy in these situations.

Profile of pregnant women and children treated at a reference center for congenital toxoplasmosis in the northern state of Minas Gerais, Brazil / Perfil de mulheres grávidas e crianças atendidas em um centro de referência para toxoplasmose congênita no norte do estado de Minas Gerais, Brasil

INTRODUCTION: To describe the clinical and epidemiological profile of pregnant women and children treated at a reference outpatient clinic for congenital toxoplasmosis. METHODS: Pregnant women potentially exposed to Toxoplasma gondii were observed. Diagnoses were made using serologic tests compatible with acute toxoplasmosis. Children presenting with: Toxoplasma-specific antibodies (IgM or IgA or ascending IgG titers higher than maternal titers in the first 3 months of life) coupled with toxoplasmosis symptoms; intracranial calcifications (by transfontanelar ultrasound or cephalic segment tomography); or retinochoroiditis (by fundoscopy examination) in the first 8 months of life were also included in the study. RESULTS: Fifty-eight mother-child pairs were observed (mean age of the mothers was 22.1 years). Most patients lived in urban areas (86.2 percent) and had attended less than 8 years of school (51.7 percent). Diagnosis was made after birth in 19 (32.8 percent) children. Thirty-four (58.6 percent) women received some type of treatment during pregnancy. Most (72.4 percent) of the children did not present with clinical alterations at birth. The main findings were ophthalmological: 20 (34.5 percent) children with retinochoroiditis, 17 (29.3 percent) with strabismus, and 7 (12.1 percent) with nystagmus. Of the children with retinochoroiditis, 9 presented with subnormal vision. Ten (32.3 percent) out of 31 children presented with intracranial calcifications by cephalic segment congenital toxoplasmosis, and 9 (42.9 percent) children presented with delayed psychomotor development. CONCLUSIONS: Our results highlight a critical situation. Protocols for follow-up of pregnant women and their children must be created to improve medical care and minimize sequelae.

INTRODUÇÃO: Descrever o perfil clínico e epidemiológico de gestantes e crianças atendidas em um centro de referência para toxoplasmose congênita. MÉTODOS: Gestantes potencialmente expostas ao Toxoplasma gondii foram estudadas. Os diagnósticos foram feitos através de testes sorológicos compatíveis com toxoplasmose aguda. Crianças que apresentaram anticorpos específicos (IgM e IgA ou títulos ascendentes de IgG, superiores aos títulos maternos nos primeiros três meses de vida), juntamente com os sintomas da toxoplasmose, calcificações intracranianas (ultrassom transfontanela ou tomografia do segmento cefálico), ou retinocoroidite (fundoscopia) nos primeiros oito meses de vida, também foram estudadas. RESULTADOS: Foram estudados 58 pares mãe-filho (a média de idade das mães foi de 22,1 anos). A maioria (86,2 por cento) das mães residia em áreas urbanas e tinham até 8 anos de escolaridade (51,7 por cento). O diagnóstico foi feito após o nascimento para 19 (32,8 por cento) crianças; 34 (58,6 por cento) mulheres receberam algum tipo de tratamento durante a gravidez. A maioria (72,4 por cento) das crianças não apresentou alterações clínicas ao nascimento. Os principais achados foram oftalmológicos: 20 (34,5 por cento) crianças com retinocoroidite, 17 (29,3 por cento) com estrabismo e 7 (12,1 por cento) com nistagmo. Das crianças com retinocoroidite, 9 apresentaram visão subnormal. Calcificações intracranianas estiveram presentes em 10 (32,3 por cento) das 31 crianças que realizaram toxoplasmose congênita de segmento cefálico e 9 (42,9 por cento) crianças apresentaram atraso do desenvolvimento psicomotor. CONCLUSÕES: Os resultados mostram uma situação crítica. Protocolos para acompanhamento de gestantes e seus filhos devem ser criados para melhorar o atendimento médico e minimizar sequelas.

Hidranencefalia en un recién nacido por toxoplasmosis congénita / Hydroanencephalia in a newborn due to congenital toxoplasmosis

A case is described of a full-term newborn with hydroanencephalia due to congenital toxoplasmosis. Prenatal diagnosis had been made. The infection was supposedly acquired in the early stages of the pregnancy, the mother presented positive serology for active infection. The newborn presented elevated specific IgM. Fetal and newborn MRI was compatible with hydrancencephalia. The newborn presented macrocephalia, cataracts, abnormal archaic reflexes, hypotonia, thermoregulation abnormalities, and altered spinal fluid. Due to the severity and rarity of this clinical picture, and an absence of a national detection program, the possibility of offering mothers the possibility of detecting this illness is highlighted.

Se presenta el caso de un recién nacido de término con hidranencefalia por toxoplasmosis congénita con diagnóstico prenatal, el cual habría adquirido su infección en forma precoz durante el embarazo. Destaca madre con serología positiva para infección activa. Recién Nacido (RN) con IgM específica elevada. Resonancia Magnética fetal y del neonato compatible con hidranencefalia. RN con macrocefalia, catarata, reflejos arcaicos anormales, hipotonía, alteración del la termorregulación y LCR alterado. Frente a la gravedad y lo inusual del cuadro clínico y considerando la ausencia de un programa nacional de tamizaje se destaca la importancia de ofrecer a la madre embarazada la posibilidad de detección precoz y prevención de esta enfermedad frente a las severas complicaciones neurológicas de esta infección congénita.

Toxoplasmose congênita: evolução da função auditiva e da linguagem emcrianças diagnosticadas e tratadas precocemente / Congenital toxoplasmosis: auditory and language outcomes inearly diagnosed and treated children

A cross-sectional study included all children diagnosed with congenital toxoplasmosis, through the Minas Gerais State Neonatal Screening Program, from September 2006 to March 2007. All children received early treatment, initiated before the age of 2.5 months, and were periodically assisted by a team of specialists including pediatricians, ophthalmologists and speech-language therapists and audiologists. Hearing function was evaluated with the following procedures: tympanometry, transient evoked otoacoustic emissions, distortion product otoacoustic emissions, behavioral observation audiometry, and brainstem auditory evoked potentials. Hearing function and sensitivity was estimated and audiological results were classified as normal, conductive hearing loss, sensory-neural hearing loss and central dysfunction. Language performance was assessed and classified as normal or abnormal, according to test results. The following variables were studied: audiological results, neurological and ophthalmological conditions, language performance and presence of risk indicator for hearing loss other than congenital toxoplasmosis. Univariate analysis was conducted using the chi-square or Fisher?s Exact test. Results: From September 2006 to March 2007, 106 children were diagnosed with congenital toxoplasmosis through the neonatal screening program, and were included in the study. Data analysis showed normal hearing in 60 children (56.6%), while 13 children (12.3%) had conductive hearing loss, four children (3.8%) had sensory-neural hearing loss and 29 children (27.4%) presented central hearing dysfunction. There was association between hearing problems and language deficits. The comparison between children with additional risks for hearing loss other than toxoplasmosis and children who only presented toxoplasmosis as a risk factor showed no differences. This finding suggests that audiological problems were due to congenital toxoplasmosis alone.

Um estudo transversal descritivo incluiu todas as crianças diagnosticadas com toxoplasmose congênita (TC) pelo Prog. Est. de Tria. Neonatal de MG entre set. 2006 e mar. de 2007. Todas as crianças foram submetidas ao protocolo de tratamento com pirimetamina e sulfadiazina iniciado antes dos 2,5 meses de idade e com duração de 12 meses, tendo realizado acompanhamento pediátrico, oftalmológico e fonoaudiológico periódico. Para avaliar a audição foram usados, como instrumentos diagnósticos, medidas de imitância acústica, emissões otoacústicas evocadas por estímulo transiente e produto de distorção, potencial evocado auditivo de tronco encefálico e observação do comportamento auditivo. Foi avaliada a acuidade auditiva e as alterações auditivas foram classificadas em condutivas, neurossensoriais e retrococleares. O desempenho de ling. foi avaliado usando-se um instrumento de aval. do desenvolvimento da ling., e os resultados foram classificados como normais ou alterados. As seguintes variáveis foram estudadas: resultados audiológicos, condições neurológicas e oftalmológicas, linguagem e presença de fator de risco para perda auditiva além da TC. Foi realizada análise univariada pelo qui-quadrado ou teste exato de Fisher. Resultados: entre set. 2006 e mar. 2007, 106 crianças foram diagnos. com TC pelo programa de triagem neonatal, sendo incluídas no estudo. A análise dos dados mostrou que 60 crianças apresentavam audição normal (56,6%) e 46 crianças apresentavam audição alterada, sendo 13 crianças (12,3%) com alteração condutiva, 4 (3,8%) com perda auditiva neurossensorial e 29 (27,4%) com comprometimento retrococlear. Houve associação entre presença de alteração auditiva e déficit de linguagem. A comparação entre crianças que apresentavam outro fator de risco além da TC e crianças que apresentavam somente a toxoplasmose como fator de risco para alteração auditiva não mostrou diferenças.

Toxoplasmose congênita em crianças sul-americanas: [revisão] / Congenital toxoplasmosis in south American children: [review]

Aims: To review the present knowledge about congenital toxoplasmosis in South America and to advance some hypothesis for future research. Source of data: Medline and Scielo database search for papers reporting clinical characteristics of cohorts of children in South America and comparative studies between South America and other continents. Summary of findings: Systematic analysis of primary data obtained during screening programs showed that the risk of ocular lesions in congenital toxoplasmosis was much higher in the South American cohorts (47%; 18/38) than in Europe (14%, 79/550). The crude risk of intracranial lesions was much higher in the cohorts from South America (53%, 20/38) than those from Europe (9%, 49/550). In a Colombian cohort it was found 11% of mortality. Additionally, a comparative prospective cohort of congenitally infected children from Brazil and Europe found that in Brazilian children eye lesions were larger, more numerous and more likely to affect the area of the retina responsible for central vision that their counterpart in Europe. The presence of Toxoplasma strains genetically different to those found in North America and Europe could explain the higher severity of congenital toxoplasmosis in South America. Conclusions: Congenital toxoplasmosis in South America seems to be more frequent and infected children are more symptomatic than in Europe and in North America. Research for new drugs and candidate vaccines are a priority to improve indicators of health in children of South America.

Objetivos: revisar o conhecimento atual sobre toxoplasmose congênita na América do Sul e traçar algumas hipóteses para futura pesquisa. Fonte de dados: busca nas bases de dados Pubmed e Scielo por artigos sobre características clínicas de coortes de crianças com toxoplasmose congênita na América do Sul e estudos comparativos entre América do Sul e outros continentes. Síntese dos dados: uma análise sistemática de dados primários obtidos durante programas de triagem mostrou que o risco de lesões oculares foi muito maior na coorte de crianças da América do Sul (47%, 18/38) do que nas européias (14%, 79/550). O risco bruto de lesões intracranianas foi muito maior na coortes da América do Sul (53%, 20/38) do que nas da Europa (9%, 49/550). Em uma coorte colombiana constatou-se 11% de mortalidade. Adicionalmente, uma coorte prospectiva, que comparou crianças com toxoplasmose congênita do Brasil e da Europa, mostrou que nas crianças brasileiras as lesões oculares foram maiores, mais numerosas e com maior probabilidade de atingir o polo posterior da retina do que nas européias. A presença de cepas de Toxoplasma gondii diferentes das da Europa e dos Estados Unidos pode explicar a maior gravidade da toxoplasmose congênita na América do Sul. Conclusões: a toxoplasmosis congênita na América do Sul parece ser mais frequente e as crianças infectadas são mais sintomáticas do que na Europa e na América do Norte. A pesquisa sobre novas drogas e vacinas deve ser prioritária, para melhorar os indicadores de saúde nas crianças da América do Sul.

Deficiência auditiva na toxoplasmose congênita detectada pela triagem neonatal / Hearing loss in congenital toxoplasmosis detected by newborn screening

A toxoplasmose congênita pode causar déficit neurossensorial em até 20 por cento dos casos e o tratamento no primeiro ano de vida melhora o prognóstico. No Brasil, desconhece-se o impacto da infecção na hipoacusia. OBJETIVO: Avaliar a audição de crianças com toxoplasmose congênita identificadas pela triagem neonatal. MATERIAL E MÉTODO: Estudo prospectivo de crianças com toxoplasmose congênita identificadas pela triagem neonatal (IgM anti-T. gondii) em Belo Horizonte, durante 2003/2004. Realizada sorologia confirmatória (mãe/filho) e consideradas positivas as crianças apresentando IgM e/ou IgA nos primeiros seis meses ou IgG aos 12 meses de vida. Avaliações auditivas ao diagnóstico e após 12 meses incluíram Audiometria Comportamental, Emissões Otoacústicas, Imitanciometria, Audiometria de Tronco Encefálico. RESULTADOS: Dentre 30.808 crianças triadas (97 por cento dos nascidos vivos), 20 apresentavam toxoplasmose congênita, 15 (75 por cento) com infecção subclínica. Dezenove crianças realizaram avaliação auditiva. Quatro apresentaram déficit neurossensorial (21,1 por cento). Uma criança apresentou outros fatores de risco para hipoacusia; nas outras três, a toxoplasmose foi o único fator observado. Duas crianças, tratadas adequadamente com antiparasitários, apresentaram déficit auditivo, em desacordo com a literatura. CONCLUSÃO: Os achados sugerem que a toxoplasmose congênita, prevalente no Brasil, é um fator de risco para hipoacusia e o impacto dessa infecção nas perdas auditivas deve ser estudado.

Congenital toxoplasmosis may cause sensorineural deficit in up to 20 percent of the patients and proper treatment in the first year improves prognosis. In Brazil, this infection’s impact on hearing impairment is unknown. AIM: To evaluate hearing of newborns with congenital toxoplasmosis identified by the newborn screening service. METHOD: This prospective study analyzed children with congenital toxoplasmosis identified by newborn screening (IgM anti-T.gondii) in Belo Horizonte during 2003/2004. The presence of IgM and/or IgA in the first 6 months or IgG at 12 months-of age in serology was used as case definition. Hearing tests were carried out at the time of diagnosis and 12 months later, including behavioral audiometry, evoked otoacoustic emission and brainstem evoked responses audiometry. RESULTS: Among 30.808 screened children (97 percent of live births), 20 had congenital toxoplasmosis, 15 (75 percent) were asymptomatic at birth. Nineteen children were evaluated by hearing tests. Four had sensorineural impairment (21.1 percent). One child had other risk factors for hearing impairment; the other three had no other risk factors but toxoplasmosis. Two properly children treated still had hearing loss, in disagreement with current literature. CONCLUSION: Results suggest that congenital toxoplasmosis, common in Brazil, is a risk factor for hearing impairment and its impact on hearing loss deserves further studies.

Retinitis pigmentosa and congenital toxoplasmosis: a rare coexistence.

We describe a previously unreported co-existence of retinitis pigmentosa and congenital toxoplasmosis. An eight year old male presented to our center with complaints of decreased night vision. Fundus evaluations in both the eyes demonstrated features typical of retinitis pigmentosa. There were well-defined punched out healed chorio-retinal scars suggestive of congenital toxoplasmosis. On the basis of history, clinical findings and reduction of a and b wave amplitudes on scotopic and photopic electroretinograph, a diagnosis of retinitis pigmentosa with congenital toxoplasmosis was made. Retinitis pigmentosa may co-exist with congenital toxoplasmosis that may affect the patient's overall ocular morbidity and visual acuity.

Globe calcification in congenital toxoplasmosis.

Various patterns of distribution of intracerebral calcification have been described in congenital toxoplasmosis. We report a case of congenital toxoplasmosis with a rare finding of calcification in the globe detected by CT scan that has not been described earlier.

Infectious and inflammatory disorders of the circulatory system as risk factors for stroke in Saudi childern

To report on the role of infectious and inflammatory disorders as risk factors for stroke in a prospective and retrospective cohort of Saudi children. Children, who presented with stroke, were evaluated at the Division of Pediatric Neurology or admitted to King Khalid University Hospital, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 [retrospective study] and February 2001 to March 2003 [prospective study]. Investigations for suspected cases included hemostatic assays, microbiological and serological tests. Neuroimaging included cranial CT, MRI, magnetic resonance angiography [MRA], magnetic resonance venography [MRV] and single photon emission computed tomography [SPECT] brain scan. Of the 104 Saudi children with stroke, seen during the combined study periods of 10 years and 7 months, infectious and inflammatory disorders of the circulatory system were the identified risk factor in 18 [17.3%]. Five children had stroke following acute bacterial meningitis at ages ranging between 5-21 months. The causative organism was identified in 3 of them and consisted of Haemophilus influenzae [in a 5-month-old girl], Streptococcus pneumoniae [in a 21-month-old girl complicated by subdural empyema and sinovenous thrombosis], and Staphylococcus aureus in a 6-month-old boy who had an underlying chronic granulomatous disease. Unspecified meningitis/meningoencephalitis affected 4 patients, whereas 3 children had an underlying congenital infection as a cause for their stroke. Two of the latter 3 children were diagnosed to have congenital toxoplasmosis, and the third had congenital rubella syndrome. Two girls had stroke following septicemia at ages of one and 2 months. Neurobrucellosis caused stroke in 2 boys at the ages of 4 1/2 and 4 years. In both patients, neuroimaging revealed lacunar and other infarcts involving mainly the deep cerebral nuclei, secondary to occlusion of small penetrating end arteries. Two patients presented with cerebrovascular disease following systemic lupus erythematosus. These were a 12-year-old girl and a 5-year-old boy. Several of the infectious diseases that caused stroke in this cohort of Saudi children are potentially preventable through childhood immunization programs or other maternity health programs. In particular, immunogenic conjugate vaccines against the 3 most common organisms causing acute bacterial meningitis [Haemophilus influenzae type b, Neisseria meningitidis and defined serotypes of Streptococcus pneumoniae] are needed to protect the young [<2 years] who are mostly affected.

Situación perinatal del VIH en el Hospital Central de San Cristóbal Estado Táchira desde 1999 A I trimestre 2003 / Perinatal situation of HIV in the Hospital Central de San Cristóbal Táchira State from 1999 to I trimester 2003

Utilizando el método de estudio retrospectivo, de cohorte transversal de investigación exploratoria y descriptiva de datos, se realizo la revisión de historias clínicas de pacientes gestantes VIH seropositivas admitidas en el departamento de Alto Riesgo Obstétrico del Servicio de Ginecología y Obstetricia del Hospital Central de San Cristóbal, en un periodo de tres años y tres meses desde 1999 hasta primer trimestre 2003, con el objetivo principal de determinar la situación perinatal de dichas pacientes que acudieron a este centro asistencial; utilizándose como método la revisión del libro de estadística de alto riesgo Obstétrico y de historias archivadas en el departamento de historias médicas; obteniéndose los siguientes resultados: de 21 casos fueron revisadas 16 historias, ya que 5 estaban mal archivadas y no fueron encontradas. La distribución de los casos fue mayor en el 2001 con 6 casos, mas frecuente el diagnóstico entre las edades 21 a 30 años y en aquellas con una paridad de I gesta; el diagnóstico de seropositividad predomina durante las 21 a 25 semanas de gestación; la complicación durante el embarazo más frecuente fue la Toxoplasmosis en 4 casos: de los 16 casos positivos 15 recibieron tratamiento para el momento del parto y la forma de culminación del embarazo fue cesárea segmentaria y esterilización quirúrgica, no hubo complicaciones posparto y egresaron en buenas condiciones generales; en cuanto al producto de la gestación nacieron con un peso mayor a 2500 gramos. Apgar de 7 y 9 puntos y seronegativos con seguimiento durante seis meses.