Pediatric Education and Research

 Cornelia de Lange syndrome (CdLS) is rarely seen syndrome with incidence between 1/10,000 and 1/ 60,000 neonates. It is characterized by typical facial features, besides involving multiple systems. We present here a case of 5 year old male child with typical facial features of CdLS like bushy eyebrows that meet in midline, long eye lashes, long philtrum, thin upper lip, depressed nasal bridge and anteverted nostrils. The patient was diagnosed as having Cornelia de Lange syndrome as he has distinctive facial features in addition to the pre- and postnatal growth retardation, hirsutism and speech delay. He has been followed up by interdisciplinary care team.

Keywords: Cornelia De Lange Syndrome; Incidence; Typical Facial Features; Brachman De Lange Syndrome; Classical CdLS; Mild CdLS; Phenocopy CdLS.

 Crouzon syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity [1]. In 1912 a French neurologist, Octave Crouzon (1874-1938) first described a hereditary syndrome of craniofacial dysostosis in a mother and her daughter which included a triad-cranial deformities, facial anomalies and exophthalmos [2]. The genetic defect appears to emanate from the mutation of fibroblast growth factor receptor 2 (FGFR2) on chromosome locus 10q25-q26, resulting in early fusion of skull bones during fetal development. Crouzon syndrome, also called craniofacial dysostosis characterized midfacial hypoplasia and orbital defects. It accounts for 4.8% of all cases of craniosynostosis [3]. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early then it may interfere with the growth of the brain. . Mental retardation is not a hallmark feature unless premature closure of the cranial suture lines impairs brain development [4].The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Case report of a 7 year old boy is presented with characteristic features of Crouzon’s syndrome with mental retardation.

Keywords: Crouzon’s Syndrome; Fibroblast Growth Factor; Premature Synostosis; Hypertelorism; Exophthalmos; Midfacial Hypoplasia.

 Background: Malnutrition is a widespread public health problem and the child is the chief victim of interplay of nutritional, socioeconomic and health factors that cause malnutrition. It affects the potential for growth of the child and causes high mortality in the later years of life. There is increased risk of diseases and deaths in the adults who have been undernourished in their childhood. Aim: Assessment of cardiac function in malnourished children of Central India. Materials and Methods: The present study was conducted to compare cardiac dysfunction between a group of malnourished children and a control group of the same age and sex and to investigate the variables like xray,ECG,2D ECHO and Cardiac troponin among study group. Results: Mean among the cases for QT interval was 332.2 +44.59 msec and controls were 293.4 +28.54 msec. (P<0.001). Mean among the cases for QTc interval was 426.7 +27.5 msec and controls was 379.5+24 msec. (P<0.0001).Mean LVM among cases was 31.58+13.6 and control was 47.14+15.68. There was significant difference in LVM among cases and control (P<0.0001). Conclusion: Malnutrition has a definite effect on cardiac volume, muscle mass, as well as the electrical properties of the myocardium. The electrocardiographic findings showed increased QT and QTc intervals. The echocardiographic examination shows decreased interventricular septal thickness, decreased left ventricular dimensions, decreased left ventricular posterior wall thickness, decreased fractional shortening and left ventricular mass suggesting cardiac atrophy and impaired left ventricular systolic functions.

Keywords: Malnutrition; ECG; 2D Echo; Xray; Cardiac TroponinI.

 Background: Congenital heart disease (CHD) is often associated with malnutrition and failure to thrive in children. Children with congenital heart diseases are frequently undernourished irrespective of cardiac defect and presence or absence of cyanosis. The aim of the study is to assess the effect of CHD on growth and nutrition and to identify the areas of growth affected with reference to different anthropometric measurements. Materials and Method: A case control observational study was carried out in children aged 0-14 years old with CHD in our institute. All patients underwent an anthropometric evaluation (weight, height/length, head circumference, mid-arm circumference, triceps and subscapular skin fold thickness) and standard growth charts (NCHS and WHO) were used accordingly. Results: We had total of 40 patients, 27 (68%) had acyanotic congenital malformation, while 13 (32%) had cyanotic cardiac malformation. Majority, 18 (82%) out of 22 cases above 5 years with CHD were underweight. Left to right shunt children with acyanotic malformation were tended to have acute malnutrition and stunting was more severe in children with cyanotic defects, with 100% of them affected. Majority of the children (42%) were undernourished with mid arm circumference below 13.5cms. Conclusion: A significantly higher, that is, 82% were underweight and 86% were stunted among children with congenital heart disease. In conclusion it can be stated that children with congenital heart disease have highly statistically significant growth retardation (P<0.001) by student t- test.

Keywords: Congenital Heart Disease; Underweight; Stunting

 Background: During 2006-10, more than 16 per cent of the world’s children under the age of 5 years were underweight for their age. The proportion ranged from 1.0 per cent of children in developed countries to 25 per cent in developing countries. In India, the national family health survey (NFHS) 2005-06 included survey of the nutritional status of young children. Both chronic and acute under nutrition were found to be high in all 7 states for which reports have been received, namely, Haryana, Karnataka, Maharashtra, Orissa, Tamil Nadu, Uttar Pradesh and Goa. Poverty, unsanitary conditions, lack of education and poor rearing practices are some of the major contributory factors. Optimal infant and young child feeding mean that mothers should start to breastfeed within half an hour of birth and continue exclusively for the first six months till two years, together with nutritionally adequate, safe and age appropriate complementary feeding. Improving infant and young child feeding practices in children 0-23 months of age is critical to improved nutrition, health and development of children. One of the ways to effectively reduce the growing under-five mortality rate is the timely introduction of complementary feeding. Objectives: To determine various weaning practices in Raichur. To determine the effect of weaning on growth. To determine the effect of weaning on various systemic illnesses. To determine effect of weaning on nutritional status of children. Methodology: It is a prospective study comparing the various weaning practices and their effect on growth of the children of age 6 months to 2 years visiting pediatric OPD in Navodaya medical college hospital during the period of November 2014 to December 2015. A total of 300 children were included in the study by simple random sampling. The need for the study has been explained to the parents and prior consent has been taken. Ethical committee clearance has been obtained before performing the study. A detailed history taking with a pre-structured questionnaire on feeding habits of children has been taken. Anthrapometric parameters such as height, weight and mid arm circumference have been measured for all the children to determine the growth parameters in children based on the weaning practices. Complete Systemic examination has been performed to rule out any systemic illness. Investigations such as a complete blood examination, urine examination, stool examination and chest x-ray to rule out systemic infections associated with malnutrition. Results: It is found that the prevalence of malnutrition and systemic illness were more in 12months to 24 months when compared to younger age group. The growth parameters are hindered more in the elder age group when compared to younger age group. Coming to weaning practices the most common feeds were annaganji and jowahar roti in younger age group and elder age group respectively. Most of the children of the younger age group are still being breast fed frequently compared to the older age group. Interpretation and Conclusion: As discussed earlier weaning is not new to India, as the history suggests that there was literature regarding weaning since the times of Charaka; Shrushutha and Kashyapa which advice exclusive breast feeding for first 6 months and complimentary feeding from 6 months with continuation of breast feeds up to 2 years. Our study shows that there is high prevalence of under nutrition and childhood illness in children of age group 12 to 24 months as compared to children of age 12 to 24 months. As age increases energy density of breastfeeds decreases and frequency of breastfeeding decreases and the nutrition is mainly from the weaned foods. Hence, in a setting of inadequate weaning the prevalence of malnutrition and childhood illnesses increase with age.

Keywords: Weaning; Malnutrition; Breastfeeding; Nutrition; Complementary Feeding; Anthrapometry; Childhood Illness.

 Introduction: Children are infected with Human Immunodeficiency Virus mostly through vertical transmission. In vast majority of cases, their father and mother both are HIV positive and sooner or later these children become orphan. Though, there is significant decrease in new cases of HIV, both in children as well as in adults, but the number of orphan children is increasing. These children are exposed to variety of adversities which affects their health and survival. To study the health status of HIV infected orphan children and how does it differ from their non orphaned counterparts, this study was undertaken. Methods: This is an hospital based observational study, in which HIV positive children diagnosed as per NACO HIV testing guidelines, between age 18 months to 15 years were included. Their orphan status was decided by history given by their caregivers/ guardians. Thorough clinical examination and required investigations of both, orphan and non orphan HIV positive children was done and their health status, morbidity and mortality were assessed. Result: Out of 140 children, 47 were orphan and 93 non orphan. Mean age of double orphan children was 11.6 0 (SD±1.42) years and single orphan children was 9.13 (SD±2.66) years. Grandparents, aunts and maternal uncle were the care givers of these orphan children. Severe anaemia and severe under nutrition was more common in orphan children than in non orphan. In 27.66% orphan children severe immune suppression was noted as compared to 12.90 % in non orphan children. Recurrent serious opportunistic infections were more common in orphan children than in non orphan. Out of six deaths, five children were orphan. No significant difference was noted in socio economic distribution, treatment adherence and follow up.

Keywords: Health Status; HIV Infection; Orphan Children.

 Objectives: To associate the severity of nutritional anaemia with serum levels of ferritin, vitamin B12 and folate; and to determine demographic, socio-economic and nutritional correlates for nutritional anemia in adolescents. Methods: Cross-sectional hospital-based study among 200 adolescents (10-18 y) with anemia. Dietary intake (24-h recall), and serum levels of folate, vitamin B12 and ferritin were estimated. Results: Iron, folate and vitamin B12 deficiency was present in 30.5% 79.5% and 50% of adolescents, respectively. Statistically significant association was observed between severity of anemia and serum vitamin B12 levels, iron intake, folate intake, Vitamin B12 intake, vegetarian diet, attainment of menarche and history of worm infestation. Conclusion: Folate and vitamin B12 deficiencies are more common than iron deficiency in anemic adolescents. Low dietary intake of these nutrients seems to be a significant determinant of their deficiencies.

Keywords: Ferritin; Folic Acid; Iron-Deficiency; Vitamin B12 Deficiency

 Objective: Objective was to evaluate the sociodemographic and perinatal factors determining severity of acute lower respiratory tract infection (ALRTI) among children below five years. Materials and Methods: Cross sectional study conducted at HSK hospital & Research centre, Bagalkot, from March-2014 to August-2015. 200 ALRI cases aged 2 months to 5 years as per WHO criteria for pneumonia were evaluated for sociodemographic and perinatal factors determining severity of pneumonia. Results: In our study out of 200 cases admitted with ALRTI 3 had Pneumonia, 155 had Severe Pneumonia and 42 had Very Severe Pneumonia according to WHO ARI programme. There were 116(58%) male in the study. More than half were infants 107(53.5%), 57(28.5%) were of birth order 3 or more and 88(44%) were living in overcrowded houses. 36(18%) were home delivery, 32(16%) were preterms and 43(21.5%) had low birth weight (LBW). In our study 41(20.5%) cases received pre lacteal feeds, 138(69%) cases were exclusively breast fed and 53 (26.5%) were incompletely immunized. Statistical significance was found between EBF, gestation at delivery and pneumonia severity. Conclusion: Certain factors like young age, male sex, overcrowding, high birth order, low SES, prematurity, lack of EBF, Incomplete immunization, are associated with increased incidence of pneumonia. Measures like improving the living conditions and educating about need for family planning, birth spacing and adequate antenatal care to prevent preterm, LBW, overcrowding and malnutrition can decrease the ALRTI incidence. Promotion of EBF, immunization coverage and adequate perinatal care can reduce the disease burden.

Keywords: WHO; ALRTI; Pneumonia; EBF.