Inadequate protein intake and lack of micronutrients may affect neurodevelopment in infants. This... more Inadequate protein intake and lack of micronutrients may affect neurodevelopment in infants. This randomised controlled trial was conducted to measure the effect of two milk–cereal mixes with modest and high amounts of protein and enriched with multiple micronutrients, given between 6 and 12 months, on cognitive, language, motor and behavioural scores at 12 and 24 months of age, compared with no-supplementation. The two supplements were also compared with each other. The study was conducted in urban Delhi, India, and the infants were randomised in a 1:1:1 ratio to the three study groups. At 12 and 24 months of age, 1134 and 1214 children were available, respectively. At 12 months of age, compared with no-supplement group, an increase in the motor scores (mean difference, MD 1·52, 95 % CI: 0·28, 2·75) and a decrease in the infant temperament scores (MD − 2·76, 95 % CI: −4·23, −1·29) in the modest-protein group was observed. Those in the high-protein group had lower socio-emotional sc...
Background Millions of children worldwide especially in the Asian subcontinent are vulnerable to ... more Background Millions of children worldwide especially in the Asian subcontinent are vulnerable to early childhood stunting. There are contradictory reports of the association between catch-up growth in childhood and school age cognition. Methods A community-based birth cohort recruited between 2010 and 2012 from urban slums in Vellore, India was followed up until 9 years of age. From regular anthropometric measurements, stunting status for each individual child was calculated at 2, 5 and 9 years. Cognition was assessed at 9 years of age using the Malin’s Intelligence Scale for Indian Children (MISIC). Children were divided into groups based on stunting at each time point as well as catch-up growth, and a regression model was utilised to evaluate their association with cognition at 9 years. Results Among 203 children included in this analysis, 94/203 (46.31%) children were stunted at 2 years of age, of whom 39.36% had a catch-up growth at 5 years of age, and 38.30% at 9 years. Around ...
The aims of this study were to investigate 1. The frequency, severity, associations and impact on... more The aims of this study were to investigate 1. The frequency, severity, associations and impact on the family of coexisting emotional and behavioural conditions in children with ASD 2. The role of unmet parent needs on the impact on families of children with ASD Methods The study used a cross-sectional observational design. Parents of children with ASD were recruited from two large ASD research databases. Standardised parent-report questionnaires were identified following a literature review, and used to measure co-existing conditions. A schedule was developed to estimate parents' unmet needs regarding their child's co-existing conditions and services received. Main findings 80% of parents reported children had moderate-severe impairment in at least one co-morbid psychopathology; 42% reported moderate-severe impairment in three or more types of psychopathology. Co-morbid psychopathology was prevalent in children with ASD irrespective of age, gender, type of diagnosis, language level and school type. However, younger age, autism diagnosis and lower language ability significantly predicted internalizing problem behaviours. Age relationships with problems in sensory processing, eating, sleep and anxiety were found as hypothesised from the literature. Co-morbid psychopathology, internalising and externalising problem behaviours, special schooling and having more than one child with ASD were associated with greater impact on families. Over two thirds of parents reported at least one unmet need; 41% had three or more unmet needs for support with co-existing emotional and behavioural conditions. The total unmet needs mediated the relationship between co-morbid psychopathology and the impact xii 7.
Archives of Disease in Childhood - Fetal and Neonatal Edition, 2021
ObjectiveTo evaluate the accuracy of neonatal MRI and general movements assessment (GMA) in predi... more ObjectiveTo evaluate the accuracy of neonatal MRI and general movements assessment (GMA) in predicting neurodevelopmental outcomes in infants with hypoxic-ischaemic encephalopathy (HIE).DesignSecondary analyses of a randomised controlled trial (RCT).SettingTertiary neonatal intensive care unit in India.MethodsFifty infants with HIE were included in an RCT of therapeutic hypothermia (25 cooled and 25 non-cooled). All infants underwent brain MRI at day 5, GMA at 10–15 weeks and outcome assessments including Bayley Scales of Infant and Toddler Development, third edition, at 18 months. Associations between patterns of brain injury, presence/absence of fidgety movements (FMs) and outcomes were assessed.ResultsSeventeen of 47 (36%) had adverse outcome (5 (21%) cooled vs 12 (52%) non-cooled, p=0.025). Eight infants died (four before an MRI, another three before GMA). Two developed severe cerebral palsy and seven had Bayley-III motor/cognitive composite score <85. Twelve (26%) had modera...
Background: Undernutrition in early childhood has historically been considered irreversible after... more Background: Undernutrition in early childhood has historically been considered irreversible after 2-3 years of age and has been associated with morbidity and mortality over the short-term and poor economic and cognitive outcomes over the long-term. We used longitudinal data to determine which factors are associated with positive changes in absolute and relative differences in height and weight from the WHO Growth Standards from 24 to 60 months of age.Methods: Across six MAL-ED sites, 942 children had anthropometry data at 24 and 60 months, as well as information about socioeconomic status, maternal height, gut permeability (lactulose-mannitol z-score (LMZ)), dietary intake from 9-24 months, and micronutrient status. Anthropometric changes were categorized as positive changes in height- or weight-for-age z-score (HAZ, WAZ) or their absolute difference from the growth standard median (HAD (cm), WAD (kg)), as well as recovery from stunting/underweight. Outcomes were modeled using multi...
Background: Neurodevelopmental disorders (NDD), especially autism spectrum disorder (ASD), have a... more 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.
Background Globally more than 150 million children under age 5 years were stunted in 2018, primar... more Background Globally more than 150 million children under age 5 years were stunted in 2018, primarily in low-and middle-income countries (LMICs), and the impact of early-onset, persistent stunting has not been well explored. To explore the association between early-onset persistent stunting in children and cognitive development at 5 years of age, and to identify the factors associated with early-onset stunting. Methods and findings Children from the MAL-ED cohort study were followed from birth to 5 years of age in six LMICs. The Wechsler Preschool Primary Scales of Intelligence (WPPSI) was used to assess cognitive abilities (fluid reasoning) at 5 years and was adapted for each culture. Stunting was categorized as early-onset persistent (first stunted at 1-6 months and persisting at 60 months), early-onset recovered (first stunted at 1-6 months and not stunted at 60 months), late-onset persistent (first stunted at 7-24 months and persisting at 60 months), late-onset recovered (first stunted at 7-24 months and not stunted at 60 months), and never (never stunted). Mixed effects linear models were used to estimate the relationship between stunting status and cognitive development. Children with early-onset persistent stunting had significantly lower cognitive scores (-2.10 (95% CI:-3.85,-0.35)) compared with those who were never stunted. Transferrin receptor (TfR) was also negatively associated with cognitive development (-0.31 (95% CI:-0.49,-0.13)), while the HOME inventory, an index of quality of the home environment (0.46 (95% CI: 0.21, 0.72)) and socioeconomic status (1.50 (95% CI: 1.03, 1.98)) were positively associated with cognitive development.
BackgroundMillions of children in low-income and middle-income countries (LMICs) are at risk of n... more BackgroundMillions of children in low-income and middle-income countries (LMICs) are at risk of not reaching their full cognitive potential. Malnutrition and enteric infections in early life are implicated as risk factors; however, most studies on these risks and their associations with cognitive development have failed to adequately account for confounding factors or the accumulation of putative insults. Here, we examine the interaction between infections and illness on cognitive development in LMIC community settings.MethodsAs part of the Etiology, Risk Factors, and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development (MAL-ED) longitudinal birth cohort study, children from eight LMICs were followed from birth to 24 months to understand the influence of repeated enteric infections on child growth and development. Here, data from six sites were employed to evaluate associations between infection, illness, the home environment, mic...
Indian Journal of Pathology and Microbiology, 2012
The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial dele... more The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH) analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome.
Background: Human resilience is dynamic and generated through myriad interactions starting from e... more Background: Human resilience is dynamic and generated through myriad interactions starting from early childhood. Resilience can improve quality of life and longevity. Objective: The current analysis evaluates childhood resilience at 9 years of age and its associations with concurrent cognition and early childhood factors, using longitudinal follow-up of a community birth cohort in Vellore, south India. Methods: Resilience was assessed using the Child and Youth Resilience Measure and cognition utilizing the Malin’s Intelligence Scale for Indian Children. Early childhood variables included growth stunting, maternal depression scores, home environment scores, and socio-economic status (SES) at 2 years of age. Statistical evaluation included bivariate analysis with further multi-variate regression for each resilience domain and the total resilience score. Findings: Out of 251 newborns recruited into the original birth cohort, 205 (81.7%) children were available for the 9-year follow-up....
Dietary and illness factors affect risk of growth faltering; the role of enteropathogens is less ... more Dietary and illness factors affect risk of growth faltering; the role of enteropathogens is less clear. As part of the Etiology, Risk Factors and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development (MAL-ED) study, we quantify the effects of enteropathogen infection, diarrhoea and diet on child growth. Newborns were enrolled and followed until 24 months. Length and weight were assessed monthly. Illnesses and breastfeeding practices were documented biweekly; from 9 to 24 months, non-breast milk intakes were quantified monthly. Routinely collected non-diarrhoeal stools were analysed for a broad array of enteropathogens. A linear piecewise spline model was used to quantify associations of each factor with growth velocity in seven of eight MAL-ED sites; cumulative effects on attained size at 24 months were estimated for mean, low (10th percentile) and high (90th percentile) exposure levels. Additionally, the six most prevalent enterop...
International Journal of Infertility & Fetal Medicine, 2021
Aim and objective: To study the phenotypic features and inheritance patterns in children diagnose... more Aim and objective: To study the phenotypic features and inheritance patterns in children diagnosed with Emanuel syndrome (ES). Materials and methods: All children who underwent cytogenetic analysis at the Christian Medical College, Vellore and whose karyotypes showed the supernumerary chromosome 22 derived from an unbalanced translocation (11;22)(q23;q11.2) were included. Karyotypes of family members were retrieved from hospital records. Metaphases were obtained from phytohemagglutinin-stimulated peripheral blood cultured using standard protocols. At least 20 Giemsa-banded metaphases were analyzed and reported in accordance with the International System for Human Cytogenomic Nomenclature. The clinical features and imaging findings were retrieved from our medical records. The karyotype findings of parents and family history including the obstetric history of all mothers were recorded. Results: There were eight children, three girls and five boys, all of whom were from unrelated families. The age at presentation ranged from 8 months to 8 years of age. Three families presented with significant family history in the form of previous sibling deaths, recurrent abortions in the mother, and maternal siblings' death. All eight children presented with global developmental delay. Preauricular sinus was found in six children (6/8,75%), while microcephaly and hypotonia in five each (5/8,62.5%). More than half of our children presented with structural cardiac and brain malformations. In three children, the der(22) was found to have originated from a maternal source of the t(11;22). All three mothers who harbored this translocation were phenotypically normal. Conclusion: The characteristic clinical features of ES found in our study included preauricular sinus, microcephaly, hypotonia, cardiac defects, and structural brain malformations. The maternal source of the t(11;22) was the commonest mode of inheritance among children diagnosed with ES. Clinical significance: Emanuel syndrome is a rare syndrome and it is extremely important to identify the phenotypic features of this clinical entity since early intervention can aid in appropriate counselling and offering prenatal testing. The majority of children diagnosed with ES were found to have inherited this genetic defect due to a translocation (11;22) running in the family. Hence, a clear understanding of the reproductive outcomes of the t(11;22) is of vital importance in counseling the family members and offering prenatal testing.
The American Journal of Tropical Medicine and Hygiene
ABSTRACT. Stunting and extreme poverty are considered significant risk factors impacting child de... more ABSTRACT. Stunting and extreme poverty are considered significant risk factors impacting child development in low-and-middle-income countries. We used two birth cohorts recruited 8–9 years apart in urban low-income (slum) settings in Vellore, south India and analyzed secular growth trends and their predictors. In the rotavirus cohort recruited between 2002 and 2003, 373 children completed the 3-year follow-up. “The Etiology, Risk Factors and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development” (MAL-ED) cohort recruited between 2010 and 2012 had 215 children completing follow-up. The MAL-ED cohort had better socio-economic status (SES) markers and mothers were better educated compared with the previous cohort. Children in the MAL-ED cohort had less stunting at 1, 2, and 3 years of age. The linear mixed effects model evaluating linear growth during the first 3 years of age showed that low birth weight and being a female child were ...
Background Early childhood developmental pattern analyses not only project future cognition poten... more Background Early childhood developmental pattern analyses not only project future cognition potential, but also identify potential risks for possible intervention. The current study evaluates developmental trends in the first 3 years of life and their predictors in a low and middle income country setting. Methods Trends of early childhood development at 6, 15, 24 and 36 months of age and their predictors were explored in a longitudinal community-based birth cohort study in an urban slum in Vellore, South India. Development was assessed using the Bayley Scales of Infant and Toddler Development-III (BSID-III). Results The birth cohort enrolled 251 children with 94, 91, 91 and 87% follow-up at 6, 15, 24 and 36 months respectively. Child development domains of cognition, language, motor and social skills showed a significant decline in scores between 6 and 36 months of age. Higher socioeconomic position (SEP) and nurturing home environment contributed to increase in cognition scores by ...
Background Head circumference (HC) measurement is routinely not performed in early childhood and ... more Background Head circumference (HC) measurement is routinely not performed in early childhood and there is conflicting information about its utility in literature. The current study analyses the association between HC at two years of age and cognition at two and five years of age. Methods A community based birth-cohort recruited between 2010 and 2012 was followed up till five years of age in an urban slum in Vellore, India. Children were recruited at birth after informed parental consent by consecutive sampling using eligibility criteria of healthy new-born, singleton pregnancy and family’s availability in the study area during follow-up. HC measured at two years of age was used as the exposure variable to calculate association with cognition at both two and five years of age. Cognitive domain of Bayley scale of infant development was used at two years of age and Wechsler Preschool Primary Scales of Intelligence at five years. Results Of the 251 enrolled children, 138 (55%) were girl...
BACKGROUND: Multiple factors constrain the trajectories of child cognitive development, but the d... more BACKGROUND: Multiple factors constrain the trajectories of child cognitive development, but the drivers that differentiate the trajectories are unknown. We examine how multiple early life experiences differentiate patterns of cognitive development over the first 5 years of life in low-and middle-income settings. METHODS: Cognitive development of 835 children from the Etiology, Risk Factors, and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development (MAL-ED) multisite observational cohort study was assessed at 6, 15, 24 (Bayley Scales of Infant and Toddler Development), and 60 months (Wechsler Preschool and Primary Scale of Intelligence). Markers of socioeconomic status, infection, illness, dietary intake and status, anthropometry, and maternal factors were also assessed. Trajectories of development were determined by latent class-mixed models, and factors associated with class membership were examined by discriminant analysis. RESUL...
Inadequate protein intake and lack of micronutrients may affect neurodevelopment in infants. This... more Inadequate protein intake and lack of micronutrients may affect neurodevelopment in infants. This randomised controlled trial was conducted to measure the effect of two milk–cereal mixes with modest and high amounts of protein and enriched with multiple micronutrients, given between 6 and 12 months, on cognitive, language, motor and behavioural scores at 12 and 24 months of age, compared with no-supplementation. The two supplements were also compared with each other. The study was conducted in urban Delhi, India, and the infants were randomised in a 1:1:1 ratio to the three study groups. At 12 and 24 months of age, 1134 and 1214 children were available, respectively. At 12 months of age, compared with no-supplement group, an increase in the motor scores (mean difference, MD 1·52, 95 % CI: 0·28, 2·75) and a decrease in the infant temperament scores (MD − 2·76, 95 % CI: −4·23, −1·29) in the modest-protein group was observed. Those in the high-protein group had lower socio-emotional sc...
Background Millions of children worldwide especially in the Asian subcontinent are vulnerable to ... more Background Millions of children worldwide especially in the Asian subcontinent are vulnerable to early childhood stunting. There are contradictory reports of the association between catch-up growth in childhood and school age cognition. Methods A community-based birth cohort recruited between 2010 and 2012 from urban slums in Vellore, India was followed up until 9 years of age. From regular anthropometric measurements, stunting status for each individual child was calculated at 2, 5 and 9 years. Cognition was assessed at 9 years of age using the Malin’s Intelligence Scale for Indian Children (MISIC). Children were divided into groups based on stunting at each time point as well as catch-up growth, and a regression model was utilised to evaluate their association with cognition at 9 years. Results Among 203 children included in this analysis, 94/203 (46.31%) children were stunted at 2 years of age, of whom 39.36% had a catch-up growth at 5 years of age, and 38.30% at 9 years. Around ...
The aims of this study were to investigate 1. The frequency, severity, associations and impact on... more The aims of this study were to investigate 1. The frequency, severity, associations and impact on the family of coexisting emotional and behavioural conditions in children with ASD 2. The role of unmet parent needs on the impact on families of children with ASD Methods The study used a cross-sectional observational design. Parents of children with ASD were recruited from two large ASD research databases. Standardised parent-report questionnaires were identified following a literature review, and used to measure co-existing conditions. A schedule was developed to estimate parents' unmet needs regarding their child's co-existing conditions and services received. Main findings 80% of parents reported children had moderate-severe impairment in at least one co-morbid psychopathology; 42% reported moderate-severe impairment in three or more types of psychopathology. Co-morbid psychopathology was prevalent in children with ASD irrespective of age, gender, type of diagnosis, language level and school type. However, younger age, autism diagnosis and lower language ability significantly predicted internalizing problem behaviours. Age relationships with problems in sensory processing, eating, sleep and anxiety were found as hypothesised from the literature. Co-morbid psychopathology, internalising and externalising problem behaviours, special schooling and having more than one child with ASD were associated with greater impact on families. Over two thirds of parents reported at least one unmet need; 41% had three or more unmet needs for support with co-existing emotional and behavioural conditions. The total unmet needs mediated the relationship between co-morbid psychopathology and the impact xii 7.
Archives of Disease in Childhood - Fetal and Neonatal Edition, 2021
ObjectiveTo evaluate the accuracy of neonatal MRI and general movements assessment (GMA) in predi... more ObjectiveTo evaluate the accuracy of neonatal MRI and general movements assessment (GMA) in predicting neurodevelopmental outcomes in infants with hypoxic-ischaemic encephalopathy (HIE).DesignSecondary analyses of a randomised controlled trial (RCT).SettingTertiary neonatal intensive care unit in India.MethodsFifty infants with HIE were included in an RCT of therapeutic hypothermia (25 cooled and 25 non-cooled). All infants underwent brain MRI at day 5, GMA at 10–15 weeks and outcome assessments including Bayley Scales of Infant and Toddler Development, third edition, at 18 months. Associations between patterns of brain injury, presence/absence of fidgety movements (FMs) and outcomes were assessed.ResultsSeventeen of 47 (36%) had adverse outcome (5 (21%) cooled vs 12 (52%) non-cooled, p=0.025). Eight infants died (four before an MRI, another three before GMA). Two developed severe cerebral palsy and seven had Bayley-III motor/cognitive composite score <85. Twelve (26%) had modera...
Background: Undernutrition in early childhood has historically been considered irreversible after... more Background: Undernutrition in early childhood has historically been considered irreversible after 2-3 years of age and has been associated with morbidity and mortality over the short-term and poor economic and cognitive outcomes over the long-term. We used longitudinal data to determine which factors are associated with positive changes in absolute and relative differences in height and weight from the WHO Growth Standards from 24 to 60 months of age.Methods: Across six MAL-ED sites, 942 children had anthropometry data at 24 and 60 months, as well as information about socioeconomic status, maternal height, gut permeability (lactulose-mannitol z-score (LMZ)), dietary intake from 9-24 months, and micronutrient status. Anthropometric changes were categorized as positive changes in height- or weight-for-age z-score (HAZ, WAZ) or their absolute difference from the growth standard median (HAD (cm), WAD (kg)), as well as recovery from stunting/underweight. Outcomes were modeled using multi...
Background: Neurodevelopmental disorders (NDD), especially autism spectrum disorder (ASD), have a... more 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.
Background Globally more than 150 million children under age 5 years were stunted in 2018, primar... more Background Globally more than 150 million children under age 5 years were stunted in 2018, primarily in low-and middle-income countries (LMICs), and the impact of early-onset, persistent stunting has not been well explored. To explore the association between early-onset persistent stunting in children and cognitive development at 5 years of age, and to identify the factors associated with early-onset stunting. Methods and findings Children from the MAL-ED cohort study were followed from birth to 5 years of age in six LMICs. The Wechsler Preschool Primary Scales of Intelligence (WPPSI) was used to assess cognitive abilities (fluid reasoning) at 5 years and was adapted for each culture. Stunting was categorized as early-onset persistent (first stunted at 1-6 months and persisting at 60 months), early-onset recovered (first stunted at 1-6 months and not stunted at 60 months), late-onset persistent (first stunted at 7-24 months and persisting at 60 months), late-onset recovered (first stunted at 7-24 months and not stunted at 60 months), and never (never stunted). Mixed effects linear models were used to estimate the relationship between stunting status and cognitive development. Children with early-onset persistent stunting had significantly lower cognitive scores (-2.10 (95% CI:-3.85,-0.35)) compared with those who were never stunted. Transferrin receptor (TfR) was also negatively associated with cognitive development (-0.31 (95% CI:-0.49,-0.13)), while the HOME inventory, an index of quality of the home environment (0.46 (95% CI: 0.21, 0.72)) and socioeconomic status (1.50 (95% CI: 1.03, 1.98)) were positively associated with cognitive development.
BackgroundMillions of children in low-income and middle-income countries (LMICs) are at risk of n... more BackgroundMillions of children in low-income and middle-income countries (LMICs) are at risk of not reaching their full cognitive potential. Malnutrition and enteric infections in early life are implicated as risk factors; however, most studies on these risks and their associations with cognitive development have failed to adequately account for confounding factors or the accumulation of putative insults. Here, we examine the interaction between infections and illness on cognitive development in LMIC community settings.MethodsAs part of the Etiology, Risk Factors, and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development (MAL-ED) longitudinal birth cohort study, children from eight LMICs were followed from birth to 24 months to understand the influence of repeated enteric infections on child growth and development. Here, data from six sites were employed to evaluate associations between infection, illness, the home environment, mic...
Indian Journal of Pathology and Microbiology, 2012
The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial dele... more The cri du chat syndrome (CdCS) is a chromosomal deletion syndrome associated with a partial deletion of the short (p) arm of chromosome 5. We describe five children who were diagnosed to have CdCS by conventional cytogenetic analysis. The deletion was at 5p15 in four patients, whereas the fifth had a larger, more proximal deletion at 5p14. Fluorescence in situ hybridization (FISH) analysis confirmed the deletion of the CdCS critical region at 5p15.2. All five children had global developmental delay and dysmorphism with microcephaly. The other clinical features were variable. Since the clinical diagnosis of CdCS may not always be evident because of the phenotypic heterogeneity, cytogenetic analysis is necessary to establish the diagnosis and confirm that the deletion involves the CdCS critical region. This will enable early intervention which plays an important role in improving the outcome.
Background: Human resilience is dynamic and generated through myriad interactions starting from e... more Background: Human resilience is dynamic and generated through myriad interactions starting from early childhood. Resilience can improve quality of life and longevity. Objective: The current analysis evaluates childhood resilience at 9 years of age and its associations with concurrent cognition and early childhood factors, using longitudinal follow-up of a community birth cohort in Vellore, south India. Methods: Resilience was assessed using the Child and Youth Resilience Measure and cognition utilizing the Malin’s Intelligence Scale for Indian Children. Early childhood variables included growth stunting, maternal depression scores, home environment scores, and socio-economic status (SES) at 2 years of age. Statistical evaluation included bivariate analysis with further multi-variate regression for each resilience domain and the total resilience score. Findings: Out of 251 newborns recruited into the original birth cohort, 205 (81.7%) children were available for the 9-year follow-up....
Dietary and illness factors affect risk of growth faltering; the role of enteropathogens is less ... more Dietary and illness factors affect risk of growth faltering; the role of enteropathogens is less clear. As part of the Etiology, Risk Factors and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development (MAL-ED) study, we quantify the effects of enteropathogen infection, diarrhoea and diet on child growth. Newborns were enrolled and followed until 24 months. Length and weight were assessed monthly. Illnesses and breastfeeding practices were documented biweekly; from 9 to 24 months, non-breast milk intakes were quantified monthly. Routinely collected non-diarrhoeal stools were analysed for a broad array of enteropathogens. A linear piecewise spline model was used to quantify associations of each factor with growth velocity in seven of eight MAL-ED sites; cumulative effects on attained size at 24 months were estimated for mean, low (10th percentile) and high (90th percentile) exposure levels. Additionally, the six most prevalent enterop...
International Journal of Infertility & Fetal Medicine, 2021
Aim and objective: To study the phenotypic features and inheritance patterns in children diagnose... more Aim and objective: To study the phenotypic features and inheritance patterns in children diagnosed with Emanuel syndrome (ES). Materials and methods: All children who underwent cytogenetic analysis at the Christian Medical College, Vellore and whose karyotypes showed the supernumerary chromosome 22 derived from an unbalanced translocation (11;22)(q23;q11.2) were included. Karyotypes of family members were retrieved from hospital records. Metaphases were obtained from phytohemagglutinin-stimulated peripheral blood cultured using standard protocols. At least 20 Giemsa-banded metaphases were analyzed and reported in accordance with the International System for Human Cytogenomic Nomenclature. The clinical features and imaging findings were retrieved from our medical records. The karyotype findings of parents and family history including the obstetric history of all mothers were recorded. Results: There were eight children, three girls and five boys, all of whom were from unrelated families. The age at presentation ranged from 8 months to 8 years of age. Three families presented with significant family history in the form of previous sibling deaths, recurrent abortions in the mother, and maternal siblings' death. All eight children presented with global developmental delay. Preauricular sinus was found in six children (6/8,75%), while microcephaly and hypotonia in five each (5/8,62.5%). More than half of our children presented with structural cardiac and brain malformations. In three children, the der(22) was found to have originated from a maternal source of the t(11;22). All three mothers who harbored this translocation were phenotypically normal. Conclusion: The characteristic clinical features of ES found in our study included preauricular sinus, microcephaly, hypotonia, cardiac defects, and structural brain malformations. The maternal source of the t(11;22) was the commonest mode of inheritance among children diagnosed with ES. Clinical significance: Emanuel syndrome is a rare syndrome and it is extremely important to identify the phenotypic features of this clinical entity since early intervention can aid in appropriate counselling and offering prenatal testing. The majority of children diagnosed with ES were found to have inherited this genetic defect due to a translocation (11;22) running in the family. Hence, a clear understanding of the reproductive outcomes of the t(11;22) is of vital importance in counseling the family members and offering prenatal testing.
The American Journal of Tropical Medicine and Hygiene
ABSTRACT. Stunting and extreme poverty are considered significant risk factors impacting child de... more ABSTRACT. Stunting and extreme poverty are considered significant risk factors impacting child development in low-and-middle-income countries. We used two birth cohorts recruited 8–9 years apart in urban low-income (slum) settings in Vellore, south India and analyzed secular growth trends and their predictors. In the rotavirus cohort recruited between 2002 and 2003, 373 children completed the 3-year follow-up. “The Etiology, Risk Factors and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development” (MAL-ED) cohort recruited between 2010 and 2012 had 215 children completing follow-up. The MAL-ED cohort had better socio-economic status (SES) markers and mothers were better educated compared with the previous cohort. Children in the MAL-ED cohort had less stunting at 1, 2, and 3 years of age. The linear mixed effects model evaluating linear growth during the first 3 years of age showed that low birth weight and being a female child were ...
Background Early childhood developmental pattern analyses not only project future cognition poten... more Background Early childhood developmental pattern analyses not only project future cognition potential, but also identify potential risks for possible intervention. The current study evaluates developmental trends in the first 3 years of life and their predictors in a low and middle income country setting. Methods Trends of early childhood development at 6, 15, 24 and 36 months of age and their predictors were explored in a longitudinal community-based birth cohort study in an urban slum in Vellore, South India. Development was assessed using the Bayley Scales of Infant and Toddler Development-III (BSID-III). Results The birth cohort enrolled 251 children with 94, 91, 91 and 87% follow-up at 6, 15, 24 and 36 months respectively. Child development domains of cognition, language, motor and social skills showed a significant decline in scores between 6 and 36 months of age. Higher socioeconomic position (SEP) and nurturing home environment contributed to increase in cognition scores by ...
Background Head circumference (HC) measurement is routinely not performed in early childhood and ... more Background Head circumference (HC) measurement is routinely not performed in early childhood and there is conflicting information about its utility in literature. The current study analyses the association between HC at two years of age and cognition at two and five years of age. Methods A community based birth-cohort recruited between 2010 and 2012 was followed up till five years of age in an urban slum in Vellore, India. Children were recruited at birth after informed parental consent by consecutive sampling using eligibility criteria of healthy new-born, singleton pregnancy and family’s availability in the study area during follow-up. HC measured at two years of age was used as the exposure variable to calculate association with cognition at both two and five years of age. Cognitive domain of Bayley scale of infant development was used at two years of age and Wechsler Preschool Primary Scales of Intelligence at five years. Results Of the 251 enrolled children, 138 (55%) were girl...
BACKGROUND: Multiple factors constrain the trajectories of child cognitive development, but the d... more BACKGROUND: Multiple factors constrain the trajectories of child cognitive development, but the drivers that differentiate the trajectories are unknown. We examine how multiple early life experiences differentiate patterns of cognitive development over the first 5 years of life in low-and middle-income settings. METHODS: Cognitive development of 835 children from the Etiology, Risk Factors, and Interactions of Enteric Infections and Malnutrition and the Consequences for Child Health and Development (MAL-ED) multisite observational cohort study was assessed at 6, 15, 24 (Bayley Scales of Infant and Toddler Development), and 60 months (Wechsler Preschool and Primary Scale of Intelligence). Markers of socioeconomic status, infection, illness, dietary intake and status, anthropometry, and maternal factors were also assessed. Trajectories of development were determined by latent class-mixed models, and factors associated with class membership were examined by discriminant analysis. RESUL...
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Papers by Beena Koshy