RESUMO
Congenital Zika syndrome (CZS) was identified following a large Zika virus (ZIKV) outbreak in Brazil in 2015. Two children with clinical presentations consistent with CZS, ages 7 and 8 years old, are described. Both mothers lived in Cambodia, a region with known ZIKV, during their pregnancies and reported fever and rash in the second trimester. The infants were born with severe microcephaly. Testing for congenital infection at birth and genetic testing were unremarkable. In 2017, serologic testing for both mothers were consistent with prior ZIKV infection. Review of infant neuroimaging demonstrated ventriculomegaly, severe cerebral atrophy, and subcortical calcifications consistent with CZS. Given the maternal symptoms suggesting ZIKV infection during pregnancy and the combination of clinical and radiological features unique to CZS, CZS is strongly suspected in these children, suggesting that CZS occurred before the 2013-2014 French Polynesia outbreak. As such, CZS should be considered in older children with congenital microcephaly of unknown etiology and a history consistent with possible ZIKV exposure.
Assuntos
Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/virologia , Infecção por Zika virus/diagnóstico , Infecção por Zika virus/virologia , Zika virus , Criança , Desenvolvimento Infantil , Pré-Escolar , Ensaio de Imunoadsorção Enzimática , Fácies , Feminino , Humanos , Imageamento por Ressonância Magnética , Microcefalia/diagnóstico , Microcefalia/etiologia , Fenótipo , Gravidez , Síndrome , Carga Viral , Ensaio de Placa Viral , Zika virus/fisiologiaRESUMO
BACKGROUND: Gene expression in archived newborn blood spots remaining from newborn screening may reflect pathophysiological disturbances useful in understanding the etiology of cerebral palsy (CP). METHODS: We quantified the expression of gene sets representing four physiological pathways hypothesized to contribute to CP in archived unfrozen residual newborn blood spot specimens from 53 children with CP and 53 age-, gender-, and gestational age-matched controls. We selected four empirical and three canonical gene sets representing the inflammatory, hypoxic, coagulative, and thyroidal pathways and examined mRNA expression using an 8 × 60,000 oligonucleotide microarray. The log2 fold change of gene expression between matched cases and controls was analyzed using the generally applicable gene set enrichment method. RESULTS: The empirical inflammatory and empirical hypoxic gene sets were significantly downregulated in term-born CP cases (n = 33) as compared with matched controls (P = 0.0007 and 0.0009, respectively), whereas both gene sets were significantly upregulated (P =0.0055 and 0.0223, respectively) in preterm-born CP cases (n = 20). The empirical thyroidal gene set was significantly upregulated in preterm-born CP cases (P = 0.0023). CONCLUSION: The newborn blood spot transcriptome can serve as a platform for investigating distinctive gene expression patterns in children who later develop CP.
Assuntos
Paralisia Cerebral/genética , Teste em Amostras de Sangue Seco , Perfilação da Expressão Gênica , Testes Genéticos , Triagem Neonatal/métodos , Adolescente , Estudos de Casos e Controles , Paralisia Cerebral/sangue , Paralisia Cerebral/diagnóstico , Criança , Pré-Escolar , Feminino , Redes Reguladoras de Genes , Marcadores Genéticos , Predisposição Genética para Doença , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Fenótipo , Reação em Cadeia da Polimerase , Valor Preditivo dos Testes , Reprodutibilidade dos TestesRESUMO
AIM: To investigate the relationships among the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS) in children with cerebral palsy (CP). METHOD: Using questionnaires describing each scale, mothers reported GMFCS, MACS, and CFCS levels in 222 children with CP aged from 2 to 17 years (94 females, 128 males; mean age 8 y, SD 4). Children were referred from pediatric developmental/behavioral, physiatry, and child neurology clinics, in the USA, for a case-control study of the etiology of CP. Pairwise relationships among the three systems were assessed using Spearman's correlation coefficients (r(s) ), stratifying by age and CP topographical classifications. RESULTS: Correlations among the three functional assessments were strong or moderate. GMFCS levels were highly correlated with MACS levels (r(s) = 0.69) and somewhat less so with CFCS levels (r(s) = 0.47). MACS and CFCS were also moderately correlated (r(s) = 0.54). However, many combinations of functionality were found. Of the 125 possible combinations of the three five-point systems, 62 were found in these data. INTERPRETATION: Use of all three classification systems provides a more comprehensive picture of the child's function in daily life than use of any one alone. This resulting functional profile can inform both clinical and research purposes.
Assuntos
Paralisia Cerebral/classificação , Inquéritos e Questionários/normas , Adolescente , Estudos de Casos e Controles , Paralisia Cerebral/diagnóstico , Paralisia Cerebral/fisiopatologia , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Índice de Gravidade de DoençaRESUMO
Cerebral palsy describes a wide spectrum of motor problems caused by a nonprogressive lesion of the developing brain. It is variably associated with a variety of other developmental and medical problems that present challenges to parents and care providers alike. This article provides an overview of etiology and diagnosis, with a system-based discussion of management.
Assuntos
Paralisia Cerebral/terapia , Assistência Integral à Saúde , Atividades Cotidianas , Paralisia Cerebral/complicações , Paralisia Cerebral/psicologia , Criança , Desenvolvimento Infantil , Pré-Escolar , Humanos , Atividade MotoraRESUMO
Birth characteristics and developmental milestones were evaluated as early predictors/correlates of communication in children with cerebral palsy. The hypothesis was that maternal report of child's age for vocal play and first words would predict current functional communication. A case series of 215 children, 2 to 17 years (mean age = 8.2 years, SD = 3.9) with cerebral palsy was recruited from medical practices in 3 Michigan cities. Early developmental data were collected by maternal interview. The child's Communication Function Classification System (CFCS) level was obtained from parent. Predictors of less functional communication included gestational age >32 weeks, number of comorbidities, age of first words after age 24 months, and use of communication methods other than speech. Several birth characteristics and developmental language milestones were predictive of later communication performance for children with cerebral palsy. These characteristics and milestones should trigger referrals for communication evaluations, including speech, language, hearing, and/or augmentative and alternative communication.