Application of the "Monitoring Child Development in Integrated Management of Childhood Illnesses Context" in Indian Infants and Toddlers.

OBJECTIVE: The objective of this study was to determine the diagnostic accuracy of "Monitoring Child Development in the Integrated Management of Childhood Illnesses Context" (MCDIC) for developmental screening of Indian children younger than 3 years. METHOD: A hospital-based study of diagnostic accuracy was conducted over 17 months after obtaining institutional ethics committee approval. Children younger than 3 years were included in this study. Children with acute illnesses and who presented without their primary caregiver were excluded from this study. The calculated sample size was 272. Eligible children were enrolled after informed consent and stratified by age. MCDIC (index tool) was administrated to primary caregivers by trained interviewers to identify "suspected/probable developmental delay (SDD/PDD)." The reference tools included Developmental Profile, Third Edition, which assessed developmental status based on General Developmental Score (GDS), and Vineland Adaptive Behavior Scale, Second Edition, which evaluated adaptive function based on Adaptive Behavior Composite (ABC). Parameters of diagnostic accuracy were computed according to the number of children with "SDD/PDD" and "developmental delay" (GDS and ABC < -2 SDs). RESULTS: The number of eligible children was 312. The sensitivity of MCDIC was 88.0% (95% confidence interval [CI] 68.8-97.5), specificity 85.7 (95% CI 81.1-89.6), positive predictive value 34.9 (95% CI 28.0-42.5), and negative predictive value 98.8 (95% CI 96.6-99.6). CONCLUSION: MCDIC had a high sensitivity and specificity that were above 70% and 80%, respectively, and a high negative predictive value, making it a suitable tool for screening and surveillance of Indian children younger than 3 years.

Diagnostic Accuracy of Parents' Evaluation of Developmental Status (PEDS), PEDS Developmental Milestones, and PEDS Combined in Indian Children Aged Less than 2 Years.

OBJECTIVE: To assess the diagnostic accuracy of Parent's Evaluation of Developmental Status (PEDS), PEDS Developmental Milestones (PEDS:DM) and PEDS Combined for developmental screening of Indian children aged less than 2 y. METHOD: A hospital-based study of diagnostic accuracy was conducted over 17 mo. Children under 24 mo (n = 180) were enrolled after exclusion of severe illnesses or known neurodevelopment disorders. The index tools included standardized Hindi translations of PEDS and PEDS:DM. The reference tool was Developmental Assessment Scale for Indian Infants (DASII). Both were administered by blinded researchers. Parameters of diagnostic accuracy were computed. RESULTS: There were 13 (7.2%) failures in PEDS, 119 (66.1%) in PEDS:DM and 119 (66.1%) in PEDS Combined. DASII identified 3 children with developmental delay. Sensitivity (Sn) [95% CI] of PEDS was 33.3 [0.8-90.6] and Specificity (Sp) 93.2 [88.5-96.5]. The Sn and Sp of both PEDS:DM and PEDS Combined were 100 [29.2-100] and 34.5 [27.5-42.0], respectively. CONCLUSIONS: Hindi translations of PEDS, PEDS:DM and PEDS Combined are not suitable for developmental screening of children less than 2 y due to suboptimal diagnostic accuracy.

Early Childhood Development: A Paradigm Shift From Developmental Screening and Surveillance to Parent Intervention Programs.

A large proportion of children under the age of five years who do not attain their expected developmental potential belong to low- and middle-income countries (LMICs). The strategies used for identifying children with high risk for developmental delay/disorders include developmental screening, surveillance, and monitoring. Suitability criteria for developmental screening tools in LMICs have been established, but few tools meet all the benchmarks. Based on these, the authors identified two tools that may be considered suitable in the Indian context; the International guide for monitoring child development and the Monitoring child development in the integrated management of childhood illnesses context. However, implementing and sustaining a universal developmental screening program using these is not feasible in the present circumstances. There is emerging evidence that parent intervention programs have significant impact on outcomes related to early childhood development (ECD). The nurturing care framework encompasses five strategies known to enhance ECD in young children even in the presence of adversities; good health, adequate nutrition, responsive caregiving, opportunities for early learning and safety and security. This article discusses the paradigm shift to incorporation of nurturing care-based preventive, supportive and promotive health care services in office practice with active parental involvement. This may prove to be a better option with a more positive, long lasting and quicker impact on ECD.

Role of Pediatricians in Early Childhood Nurturing Care Related to Safety and Security.

The five components of nurturing care for early childhood development (good health, adequate nutrition, responsive parenting, early opportunities for learning, and safety and security) are essential for the attainment of the optimal developmental potential of a child, and enabling him/her to become a productive adult. Safety is a state of protection from hazards caused by natural forces or unintentional human error, whereas security comprises of protection from hazards resulting from deliberate, harmful actions or inimical behavior. Unlike the other components, safety and security have been least addressed by health programs in India. The forms of lapses in safety and security in young children include injuries, neglect and maltreatment (physical, emotional, sexual abuse), the magnitude of which is difficult to ascertain in the community. Many mishaps can be avoided by simply understanding child development, taking precautions, and environmental modification. Issues related to safety and security are usually not addressed in routine office practice. Pediatricians have multiple roles and responsibilities. They need to utilize every opportunity to discuss preventive and promotive health care with parents. Converting immunization days to holistic well child visits is an ideal strategy, in which parents can be educated about preventing avoidable injuries and informed about how to keep their children safe and secure. Pediatricians should recognize indicators of volitional injury, neglect and abuse, and be competent in their management. They need to be aware of child rights and the legal protective measures as well as their own their legal obligations. They should network with various agencies involved in child welfare and protection.

Indian Academy of Pediatrics Position Paper on Nurturing Care for Early Childhood Development.

Early childhood development (ECD) refers to the physical, motor, socio-emotional, cognitive, and linguistic development of a young child. The 'Countdown to 2030' global distribution of 'children at risk of poor development' indicates the need for urgent action and investment in ECD. Nurturing care enhances ECD, even in the presence of adversities. Strategic actions should exist at multiple levels: the family, community, health care providers and government. Previously, child health related policies and programs of the Government of India functioned in isolation, but have recently started demonstrating multi-sectoral collaboration. Nonetheless, the status of ECD in India is far from optimal. There is strong evidence that parenting programs improve outcomes related to ECD. This is dependent on key programmatic areas (timing, duration, frequency, intensity, modality, content, etc.), in addition to political will, funding, partnership, and plans for scaling up. Each country must implement its unique ECD program that is need-based and customized to their stakeholder community. Barriers like inadequate sensitization of the community and low competency of health care providers need to be overcome. IAP firmly believes that responsive parenting interventions revolving around nurturing care should be incorporated in office practice. This paper outlines IAP's position on ECD, and its recommendations for pediatricians and policy makers. It also presents the roadmap in partnership with other stakeholders in maternal, neonatal, and child health; Federation of Obstetric and Gynaecological Societies of India (FOGSI), National Neonatology Forum (NNF), World Health Organization (WHO), and United Nation Children Fund (UNICEF).

Identification, Evaluation, and Management of Children With Autism Spectrum Disorder: American Academy of Pediatrics 2020 Clinical Guidelines.

The American Academy of Pediatrics recently published clinical guidelines for evaluation and management of children and adolescents with Autism Spectrum Disorder (ASD), nearly 12 years after the previous version. This article outlines salient features, highlights significant differences from the 2007 version, and discusses implications for Indian professionals dealing with affected families.

Diagnostic Accuracy of Indian Scale for Assessment of Autism in Indian Children Aged 2-5 Years.

OBJECTIVE: To determine the diagnostic accuracy of Indian Scale for Assessment of Autism (ISAA) in children aged between 2-5 years. Design: Setting:. STUDY DESIGN: Study of diagnostic accuracy. PARTICIPANTS: A consecutive sample of 500 children with suspected Autism (delay or regression of developmental milestones, delay or regression in speech, age-inappropriate understanding, behaviour, play and/or social interaction) was recruited. SETTING: Tertiary level hospital, (November 2015 - November 2017). PROCEDURE: Each child underwent an expert comprehensive assessment of Autism (reference tool) that included history, observation, examination, diagnostic criteria for Autism Spectrum Disorder (ASD) of the Diagnostic and Statistical Manual of Mental Disorders', 5th edition, Childhood Autism Rating Scale-2 (CARS2), developmental status and adaptive function. This was followed by the administration of ISAA (test tool) in Hindi language. Parameters of diagnostic accuracy and Receiver Operating Characteristic curves were computed. MAIN OUTCOME MEASURES: ASD based on (i) expert assessment, (ii) CARS-2, and (iii) ISAA. RESULTS: In children aged 2-3 years, sensitivity of ISAA was 100% (95% CI 98.2% -100%), specificity 28.9% (95% CI 17.7% to 43.4%), positive likelihood ratio 1.4 and negative likelihood ratio 0. In 3-5 year olds, sensitivity was 99.6% (95% CI 97.6% to 99.6%), specificity 33.3% (95% CI 15.1% to 58.3%), positive likelihood ration 1.5 and negative likelihood ratio 0.01. The degrees of autism based on the existing cut off values were inaccurate. CONCLUSIONS: ISAA has sub-optimal performance in diagnosing and assessing severity in 2-5 year old children.

Development, Cognition, Adaptive Function and Maladaptive Behavior in HIV-infected and HIV-exposed Uninfected Children Aged 2-9 Years.

OBJECTIVE: To compare development/cognition, adaptive function and maladaptive behavior of HIV-infected and HIV-exposed uninfected children between 2 to 9 years with HIV-uninfected controls. METHODS: This hospital-based cross-sectional study was conducted from November, 2013 to March, 2015. 50 seropositive HIV-infected, 25 HIV-exposed uninfected and 25 HIV-uninfected children between 2 to 9 years were administered Developmental Profile 3, Vineland Adaptive Behavior Scale 2, and Child Behavior Checklist for assessing development, adaptive function and maladaptive behaviour, respectively. Additional data were obtained by history, examination and review of records. RESULTS: Significant developmental/cognitive impairment was observed in 38 (76%), 16 (64%) and 6 (24%) HIV-infected, HIV-exposed uninfected, and HIV-uninfected children, respectively. Significant impairment in adaptive function was found in 12 (24%) and 2 (8%) HIV-infected and HIV-exposed uninfected children, respectively. Maladaptive behavior was not seen in any group. CONCLUSIONS: High magnitude of impaired development/cognition and adaptive function in HIV-exposed and HIV-infected children warrants assessment of these domains during follow-up of these children, and incorporation of interventions for these deficits in standard care for this group.

Autism Spectrum Disorders - Diagnosis and Management.

Autism Spectrum Disorder (ASD) is a neuro-developmental disorder commonly seen in children. It is characterized by age inappropriate, impaired social communication and the presence of stereotypic behavior. This disorder is hypothesized to result from cerebral dysfunction arising from a complex interaction between genetic, epigenetic and environmental factors. ASD should be suspected in children failing ASD specific screening tests, in the presence of red flags in social, language and/or play domains, in children with developmental or language delay, abnormal behavior, poor school performance or in those who are at high risk. Comprehensive assessment comprises of a step-wise approach that includes taking a detailed history, performing a holistic examination and observing the child closely in relation to play, social interaction and behavior. Diagnosis is established by application of the diagnostic criteria for ASD of the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM V). The degree of severity, intellectual and language impairment and presence of other illnesses should be specified. Functional assessment identifies an individual's strengths and weaknesses. All these are important to formulate a customized intervention plan along with the family. The goal is to build up skills enabling optimal and as far as possible normal functioning while simultaneously reducing maladaptive behavior. This is achieved by a multi-disciplinary team comprising of various personnel experienced in tackling issues in ASD related to their respective areas of expertise. Intervention is primarily non-pharmacological, based on behavioral modification strategies. Drugs are only indicated in the reduction of target symptoms refractory to behavioral intervention. Although there is no cure, timely and appropriate intervention can improve the quality of life significantly.

Diagnostic accuracy of Indian Scale for Assessment of Autism (ISAA) in chidren aged 2-9 years.

OBJECTIVE: To determine the diagnostic accuracy of Indian Scale for Assessment of Autism (ISAA) in children aged 2-9 year at high risk of autism, and to ascertain the level of agreement with Childhood Autism Rating Scale (CARS). DESIGN: Diagnostic Accuracy study. SETTING: Tertiary-level hospital. PARTICIPANTS: Children aged between 2 and 9 year and considered to be at a high risk for autism (delayed development, and age-inappropriate cognition, speech, social interaction, behavior or play) were recruited. Those with diagnosed Hearing impairment, Cerebral palsy, Attention deficit hyperactivity disorder or Pervasive developmental disorders (PDD) were excluded. METHODS: Eligible children underwent a comprehensive assessment by an expert. The study group comprising of PDD, Global developmental delay (GDD) or Intellectual disability was administered ISAA by an investigator after one week. Both evaluators were blinded. ISAA results were compared to the Experts diagnosis and CARS scores. RESULTS: Out of 102 eligible children, 90 formed the study group (63 males, mean age 4.5y). ISAA had a sensitivity 93.3, specificity of 97.4, positive and negative likelihood ratios 85.7 and 98.7 and positive and negative predictive values of 35.5 and 0.08, respectively. Reliability was good and validity sub-optimal (r low, in 4/6 domains). The optimal threshold point demarcating Autism from No autism according to Receiver Operating Characteristic curve was ISAA score of 70. Level of agreement with CARS measured by Kappa coefficient was low (0.14). CONCLUSIONS: The role of ISAA in 3-9 year old children at high risk for Autism is limited to identifying and certifying Autism at ISAA score of 70. It requires re-examination in 2-3 year olds.

Sturge Weber-Like Gyral Calcification Seen in Tuberous Sclerosis Complex 1.

A 10-year-old girl presented with poorly controlled epilepsy. On evaluation, she had microcephaly, neuro-cutaneous stigmata of tuberous sclerosis complex, profound mental retardation, and spastic hemiparesis. Computed tomography (CT) revealed a calcified subependymal nodule and extensive left gyral calcification of the temporal, parietal, and occipital regions with unilateral cerebral atrophy, radiologic features usually seen in Sturge Weber syndrome. Magnetic resonance imaging (MRI) revealed absence of tubers, enlarged choroid plexus, or leptomeningeal angiomas, thus excluding type 3 Sturge Weber syndrome. The genotype was a heterozygous mutation in exon 18 of the tuberous sclerosis type 1 gene (c.2293C>T p.Q765X). A comparison of previously reported 7 cases of Sturge Weber syndrome and tuberous sclerosis complex was made. This revealed 4 actual double phakomatoses (clinical, radiologic, or genetic phenotypes) and 3 cases with clinical phenotype of tuberous sclerosis and gyral calcifications within tubers simulating the radiologic picture of Sturge Weber syndrome.

Study of television viewing habits in children.

Previous studies from developing countries have reported that Television (TV) viewing, if excessive and of poor quality has a proven negative influence on child health. Indian studies on this subject are few. The present study aimed at determining TV viewing habits of children and their families as well as parental perspectives on the impact of TV on child health using a provider completed indigenously developed questionnaire in Hindi. The study group comprised of 109 children attending a government hospital who belonged predominantly to lower socio-economic strata with poor maternal literacy. It was observed that 100 % children watched excessive TV (> 2 h daily), with majority viewing unsupervised and low quality content. There were minimal parental restrictions and no active discussion regarding contents. Negative impact was found on play, hobbies, sleep hygiene and eating habits in most children. Most parents were unaware of unhealthy viewing and the associated deleterious effects. As pediatricians we need to enquire about TV viewing habits routinely and educate parents about appropriate TV viewing.

Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.

Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected.

Evaluation of a parent-based behavioral intervention program for children with autism in a low-resource setting.

BACKGROUND: Intensive behavioral intervention programs are recommended for children with autism. However, in resource-constraint settings, such programs are largely inaccessible, and there is an urgent need for development of low-cost interventions. AIM: To evaluate the efficacy of a parent-based behavioral intervention program in Indian autistic children. MATERIALS AND METHODS: Sixteen children with autistic disorder undergoing the intervention for at least six months were enrolled. The mean development, social, expressive, and receptive language quotients, and the Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC) scores were compared before and after the intervention. RESULTS: The average duration of therapy was 19.5±11.78 months. There was a significant improvement in the development quotient (P=0.015), social quotient (P=0.004), expressive language quotient (P=0.03), CARS (P=0.001), and ABC (P=0.014) scores. CONCLUSION: Parent-based behavioral intervention programs have a promising role in management of children with autism in resource-constraint settings.

Dysmyelination of the cerebral white matter with microdeletion at 6p25.

A 6 year old boy presented with mental retardation, hypotonia, abnormal facies, impaired hearing, protuberant eyes, visual impairment, short stature, Axenfeld-Rieger anomaly, a bicuspid aortic valve, and bilateral sensorineural deafness. CT scan of head suggested dysmyelination of the subcortical and periventricular white matter. FISH revealed a subtelomeric microdeletion encompassing both FOXC1 and FOXF2 loci within 6p25. Dysmyelination of the central nervous system has been infrequently described earlier in patients with 6p25 deletion.

Sensitivity of the autism behavior checklist in Indian autistic children.

OBJECTIVE: The autism behavior checklist (ABC) has potential utility for evaluation of autistic children in resource-poor settings. Although the original total cutoff score has been described as 67, lower cutoffs have been suggested. We evaluated the sensitivity of ABC in the diagnosis of autism in Indian children. METHODS: This study was conducted over 2 years in the Child Development Clinic of a tertiary care hospital. Children diagnosed with autistic disorder as per the DSM-IV criteria were included. Children with comorbid motor, visual, and hearing deficits were excluded. Each child was evaluated using the Childhood Autism Rating Scale and ABC. RESULTS: Fifty-one children were enrolled in the study. The mean age was 3.28 +/- 1.89 years. The ratio of boys to girls was 2.2:1. The mean Childhood Autism Rating Scale score was 44.7 +/- 6.22, with all children having scores in the autistic range. The mean ABC score was 72.4, with a standard deviation of 14.2. By using the originally suggested cutoff score of 67, only 40 children in this study were diagnosed with autism. When lower cutoffs were used, the sensitivity increased, with a sensitivity of 98% and a cutoff of 45. CONCLUSION: The ABC cutoff needs to be lowered to increase its sensitivity for diagnosis of autistic disorder.

Peters plus syndrome.

A 10-year-old boy, issue of unrelated parents presented with visual impairment, short stature and mental retardation. The presence of a Peters' anomaly, mental retardation, disproportionate short stature, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome. Analysis of his genomic DNA revealed a homozygous deletion in the beta1,3-galactosyltransferase-like gene (B3GALTL), a recently identified gene.