RESUMO
Experiences in early childhood form the bedrock of future human potential. In impoverished settings, structured early childhood education (ECE) in preschool years can augment overall childhood and later human abilities. The current study evaluates preschool learning exposure and childhood cognition, using longitudinal follow-up of a community-based birth cohort in Vellore, south India. The birth cohort study site in Vellore recruited 251 newborns between 2010 and 2012 from dense urban settlements and further followed up into childhood. Preschool enrolment details were obtained from parents. Childhood cognition was assessed by Weschler's preschool primary scale of intelligence (WPPSI) and Malin's intelligence scale for Indian Children (MISIC) at 5 and 9 years of age respectively. Bivariate and multivariate regression analyses were performed with adjustments for socio-economic status (SES), maternal education, stunting status and home environment. Out of 251 new-borns recruited into the MAL-ED birth cohort, 212 (84.46%) and 205 (81.7%) children were available for the 5 year and 9 year follow-up respectively. At 5 years, structured ECE of 18 to 24 months duration was significantly associated with higher cognition scores, with the highest increase in processing speed [ß: 19.55 (11.26-27.77)], followed by full-scale intelligence [ß: 6.75 (2.96-10.550)], even after adjustments for SES, maternal cognition, home factors and early childhood stunting status. Similarly adjusted analysis at 9 years showed that children who attended 1.5-2 years of structured ECE persisted to have higher cognition, especially in the performance domain [ß: 8.82 (2.60-15.03)], followed by the full-scale intelligence [ß: 7.24 (2.52-11.90)]. Follow-up of an Indian birth cohort showed that structured ECE exposure was associated with better school entry cognition as well as mid-childhood cognition. Strengthening ECE through a multi-pronged approach could facilitate to maximize cognitive potential of human capital.
Assuntos
Coorte de Nascimento , Cognição , Humanos , Índia/epidemiologia , Cognição/fisiologia , Feminino , Pré-Escolar , Masculino , Criança , Desenvolvimento Infantil , Inteligência , Lactente , Recém-Nascido , Estudos Longitudinais , Estudos de CoortesRESUMO
BACKGROUND AND OBJECTIVES: To determine whether vestibular stimulation offered by Indian hammock and music intervention are useful in reducing the occurrence of infantile colic in term infants. METHODS: This open-labelled randomized clinical trial was conducted among 465 term neonates who were randomly assigned to one of three groups: music group, hammock group and control group. The music intervention was given for a cumulative duration of at least 4 h a day with one stretch of at least 1 h. In the hammock group, babies were put to sleep inside the Indian hammock and were swung gently until they sleep, and were allowed to sleep in it, until they wake up. For the control group, routine pre-discharge counselling was given. All parents were provided a cry log and were instructed to record the log of cry events and duration. The primary outcome measure was occurrence of infantile colic episode as defined by ROME IV criteria. The infants were followed up from birth until the age of 3.5 months, and the cry log was collected during each follow-up visit. RESULTS: Of the 435 term neonates who completed follow-up, 59 infants developed infantile colic (13.6%). The prevalence of infantile colic in the control group, music group and the Indian hammock group was 25.6%, 5.4% and 9.6% respectively; there was a significant reduction in the prevalence of infantile colic in the intervention groups as compared to the control group. CONCLUSIONS: Vestibular stimulation by Indian hammock and music intervention individually reduced the occurrence of infantile colic.
RESUMO
BACKGROUND: Neurodevelopmental disorders (NDD), especially autism spectrum disorder (ASD), have a substantial impact on the family, with a consequent decrease in the quality of life. The current study was undertaken to understand if having ASD contributed to a higher impact on families compared to other NDD and to understand additional factors impacting families of children with either disorder in a low-middle income country (LMIC) setting. METHODS: Impact of ASD and other NDD along with sociodemographic factors was examined, by a retrospective analysis, among 540 children in a tertiary care center in South India. RESULTS: Both ASD and NDD had high, but comparable, impact on the family. Being a girl child, having seizures, and having sleep problems predicted a higher impact. CONCLUSIONS: In children with NDD, managing co-morbidities such as achieving better seizure control and addressing sleep-related problems may improve the impact of NDD on the family. Gender disparity in disability needs to be studied within the local cultural context.
RESUMO
Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin deficiency in an Indian female with homozygosity for the most prevalent ALDH7A1 missense mutation, c.1279G > C; p.Glu427Gln in exon 14. The diagnosis was established along familial cosegregation analysis for an affected offspring, that had neonatal pyridoxine responsive seizures and had been found to be compound heterozygous for c.1279G > C; p.Glu427Gln in exon 14 and a nonsense mutation c.796C > T; p.Arg266* in exon 9. While seizures in the mother had been incompletely controlled by levetiracetam, she remained seizure-free on pyridoxine monotherapy, 200 mg/day. Her fourth pregnancy resulted in a female affected offspring, who was treated prospectively and never developed seizures with a normal outcome at age 2 years while on pyridoxine. This report illustrates that the phenotypic spectrum of antiquitin deficiency is still underestimated and that this treatable inborn error of metabolism has to be considered in case of therapy-resistant seizures even at older age. It furthermore supports prospective in utero treatment with pyridoxine in forthcoming pregnancies at risk.
Assuntos
Aldeído Desidrogenase/deficiência , Epilepsia/etiologia , Epilepsia/genética , Doenças Metabólicas/complicações , Doenças Metabólicas/genética , Idade de Início , Aldeído Desidrogenase/genética , Epilepsia/sangue , Epilepsia/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Doenças Metabólicas/sangue , Doenças Metabólicas/diagnóstico por imagem , Ácidos Pipecólicos/sangue , Adulto JovemRESUMO
The authors herein report a 5-year-old child who presented with massive hemolysis, irritability, and cyanosis. The final diagnosis was glucose-6-phosphate dehydrogenase deficiency with associated central nervous system symptoms probably because of concomitantly acquired methemoglobinemia following oxidant drug exposure. The associated acute-onset anemia would have contributed to the development of cerebral anoxia-related seizures and encephalopathy.
Assuntos
Deficiência de Glucosefosfato Desidrogenase/complicações , Humor Irritável , Metemoglobinemia/etiologia , Norfloxacino/efeitos adversos , Oxidantes/efeitos adversos , Convulsões/etiologia , Doença Aguda , Pré-Escolar , Consanguinidade , Cianose/etiologia , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Masculino , Metemoglobinemia/induzido quimicamente , Metemoglobinemia/psicologia , Metemoglobinemia/urina , Norfloxacino/uso terapêutico , Oxidantes/uso terapêutico , RecidivaAssuntos
Anti-Infecciosos/provisão & distribuição , Cloxacilina/provisão & distribuição , Acessibilidade aos Serviços de Saúde , Anti-Infecciosos/uso terapêutico , Cloxacilina/uso terapêutico , Farmacorresistência Bacteriana , Humanos , Índia , Staphylococcus aureus Resistente à Meticilina , Assistência Farmacêutica/normas , Infecções Estafilocócicas/tratamento farmacológico , Infecções Estafilocócicas/epidemiologiaRESUMO
Alkaptonuria (AKU) is an autosomal recessive disorder caused by mutations in homogentisate-1,2-dioxygenase (HGD) gene leading to the deficiency of HGD enzyme activity. The DevelopAKUre project is underway to test nitisinone as a specific treatment to counteract this derangement of the phenylalanine-tyrosine catabolic pathway. We analysed DNA of 40 AKU patients enrolled for SONIA1, the first study in DevelopAKUre, and of 59 other AKU patients sent to our laboratory for molecular diagnostics. We identified 12 novel DNA variants: one was identified in patients from Brazil (c.557T>A), Slovakia (c.500C>T) and France (c.440T>C), three in patients from India (c.469+6T>C, c.650-85A>G, c.158G>A), and six in patients from Italy (c.742A>G, c.614G>A, c.1057A>C, c.752G>A, c.119A>C, c.926G>T). Thus, the total number of potential AKU-causing variants found in 380 patients reported in the HGD mutation database is now 129. Using mCSM and DUET, computational approaches based on the protein 3D structure, the novel missense variants are predicted to affect the activity of the enzyme by three mechanisms: decrease of stability of individual protomers, disruption of protomer-protomer interactions or modification of residues in the region of the active site. We also present an overview of AKU in Italy, where so far about 60 AKU cases are known and DNA analysis has been reported for 34 of them. In this rather small group, 26 different HGD variants affecting function were described, indicating rather high heterogeneity. Twelve of these variants seem to be specific for Italy.
Assuntos
Alcaptonúria/genética , Doenças Ósseas Metabólicas/genética , Osso e Ossos/enzimologia , Homogentisato 1,2-Dioxigenase/genética , Mutação de Sentido Incorreto , Polimorfismo de Nucleotídeo Único , Alcaptonúria/diagnóstico , Alcaptonúria/enzimologia , Alcaptonúria/patologia , Sequência de Bases , Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/enzimologia , Doenças Ósseas Metabólicas/patologia , Osso e Ossos/patologia , Domínio Catalítico , Bases de Dados Genéticas , Éxons , Feminino , Expressão Gênica , Heterogeneidade Genética , Homogentisato 1,2-Dioxigenase/química , Humanos , Íntrons , Itália , Masculino , Modelos Moleculares , Dados de Sequência Molecular , Linhagem , Fenótipo , Estrutura Secundária de Proteína , Análise de Sequência de DNAAssuntos
Glomerulonefrite por IGA , Rim , Metilprednisolona/administração & dosagem , Diálise Renal/métodos , Infecções Estreptocócicas/complicações , Criança , Feminino , Glomerulonefrite por IGA/diagnóstico , Glomerulonefrite por IGA/etiologia , Glomerulonefrite por IGA/fisiopatologia , Glomerulonefrite por IGA/terapia , Glucocorticoides/administração & dosagem , Humanos , Imunoglobulina A/análise , Rim/patologia , Rim/fisiopatologia , Testes de Função Renal/métodos , Pulsoterapia/métodos , Resultado do TratamentoAssuntos
Traumatismos Abdominais/complicações , Dor Abdominal/diagnóstico , Parede Abdominal , Abscesso , Antibacterianos/administração & dosagem , Drenagem/métodos , Esplenomegalia/diagnóstico , Ferimentos não Penetrantes/complicações , Dor Abdominal/etiologia , Parede Abdominal/diagnóstico por imagem , Parede Abdominal/patologia , Parede Abdominal/fisiopatologia , Abscesso/diagnóstico , Abscesso/etiologia , Abscesso/fisiopatologia , Criança , Diagnóstico Diferencial , Humanos , Masculino , Resultado do Tratamento , Ultrassonografia/métodosRESUMO
OBJECTIVE: To assess the association of maternal anxiety with nonadherence to exclusive breastfeeding. METHODS: This questionnaire-based study was conducted at a tertiary care teaching hospital in South India mothers with infants less than 6 months of age and not exclusively breastfeeding were interviewed and their demographic and clinical details were noted. The Iowa Infant Feeding Attitude Scale (IIFAS) and Hospital Anxiety and Depression Scale (HADS) were administered to these mothers. RESULTS: A total of 85 mother-infant dyads were included. The mean age of the mothers was 26 years and 57% were from urban areas. Among the additional feeds given, cow's milk was the commonest (57.6%), followed by gripe water (28.2%) and formula feeds (16.5%). The mean HADS anxiety subscale score was 12.2 (±5.3) and HADS depression subscale score was 9.5 (±3.8). The mean score on IIFAS was 58.4 (±3.6) suggesting a relatively favorable attitude toward breastfeeding. On linear regression analysis, higher HADS depression score, lower birth weight and lower per capita income were independent predictors of poorer attitudes toward breastfeeding. CONCLUSION: Maternal anxiety may be an independent risk factor for nonadherence to exclusive breastfeeding for the initial six months.
Assuntos
Aleitamento Materno/psicologia , Adulto , Ansiedade , Feminino , Humanos , Adulto JovemRESUMO
Infectious diseases are one of the major causes of morbidity and mortality in developing countries. Sometimes concurrent infections with multiple infectious agents may occur in one patient, which make the diagnosis and management a challenging task. The authors here present a case of co-infection of typhoid fever with dengue fever in a ten-year-old child and discuss the pertinent issues. The authors emphasize that the risk factors predicting the presence of such co-infections, if developed, will be immensely useful in areas where dengue outbreak occurs in the background of high transmission of endemic infections.