Quality of life and disease perceptions in caregivers of children with Congenital Adrenal Hyperplasia.

Background: Congenital adrenal hyperplasia (CAH) is a chronic disorder requiring lifelong therapy. False perceptions, poor knowledge, and social isolation adversely affect the psychosocial health and quality of life of patients and caregivers. The study was undertaken to ascertain the quality of life of caregivers of children with CAH. Method: A hospital-based cross-sectional study enrolled caregivers of children diagnosed with CAH where newborn screening was unavailable. Quality of life (QoL) was measured using the WHO-QoL-BREF questionnaire to compare physical, psychological health, social relationships, and environment. Results: Eighteen children with CAH (9 males), 14 salt-wasting, and 4 simple virilizing CAH with median (IQR) age of 4.3 (2.6, 9.8) years and a follow-up period of 3.8 (1.3, 8.4) years were enrolled. Out of 18 caregivers, 6 were fathers and 12 mothers with a mean (SD) age of 38 (8) years. The mean (SD) of the total score was 69.2 (10.6); physical, psychological, environmental, and social domain were 69.8 (15.1), 57 (12.6), 64 (14.5), and 65 (9.9), respectively. Physical, psychological, and environmental domain scores were significantly higher in upper-middle than lower-middle socioeconomic strata (P < 0.05) and similar between salt-wasting and simple virilizing phenotypes. There was no significant correlation between QoL scores and duration of disease (r = 0.257, P = 0.44). Parents of 7 (38%) patients discussed disease with extended families or neighbors, but none of the school teachers were informed. Death (56%), social acceptance (27%), and infertility (18%) were the major concerns acknowledged. Conclusion: The study reflects the suboptimal quality of life in caregivers of children with CAH. There was no correlation of the duration of disease with the QoL scores. Psychological and social relationship scores were poorest, indicating the need to creating more awareness to remove social taboos associated with this disease.

Daily v. weekly oral vitamin D3 therapy for nutritional rickets in Indian children: a randomised controlled open-label trial.

The aim of the study was to compare the efficacy of daily v. weekly oral vitamin D3 therapy in radiological healing of nutritional rickets. Children 6 months to 12 years (n 132) diagnosed with nutritional rickets were randomised into three groups (n 44): group A - 2000 IU daily vitamin D3 for 12 weeks, B - 60 000 IU weekly for 3 weeks, C - 60 000 IU weekly for 6 weeks. Serum calcium, phosphorus, 25-hydroxyvitamin D (25(OH)D), parathyroid hormone and X-ray score were estimated at baseline and 12 weeks (endline). The proportion of children who achieved complete radiological healing at endline was compared between three groups by χ2 and delta change in laboratory parameters by ANOVA (parametric data) or Kruskal Wallis test (non-parametric data), respectively. Baseline 25(OH)D ≤ 20 ng/ml was seen in 119 (90·2 %), hyperparathyroidism in 90 (68·8 %) and hypocalcaemia in 96 (72·7 %). A total of 120/132 children completed the study. Complete radiological healing seen in 30 (75 %) in group A, 23 (60·5 %) in group B and 26 (61·9 %) in group C; P = 0·15, with comparable endline X-ray scores; P = 0·31. The median (interquartile range (IQR)) delta X-ray score (baseline-endline) was 7 (4,9), 5 (2·25, 6) and 6 (4,7) in groups A, B and C, respectively; P = 0·019. Median (IQR) 25(OH)D endline levels in groups A, B and C were 50·0 (26·5, 66·5), 42·1 (28·4, 54·4) and 53·5 (33·7, 71·2) ng/ml, respectively; P = 0·045. Radiological scores were comparable at endline among daily and weekly vitamin D groups with greater change from baseline in daily supplemented group.

Online Survey of Vitamin D Supplementation Practices in Children and Adolescents.

We collected information regarding vitamin D supplementation practices of 230 pediatricians through an online survey. Routine supplementation was being practiced during infancy, 1-5 y, 6-10 y, and >10-19 y age by 187 (81.3%), 60 (26.1%), 34 (14.8%) and 41 (17.8%) respondents, respectively. 182 (79%) participants promoted sunlight exposure, and 171 (74.3%) did not measure serum 25-hydroxy vitamin D levels before supplementation. The survey highlights that majority of pediatricians prescribe routine vitamin D supplementation during infancy, but not beyond.

A prospective study of catch-up growth among Indian children with celiac disease.

OBJECTIVES: The study was done to investigate the response of the gluten-free diet (GFD) on growth and other biochemical parameters in newly diagnosed children with celiac disease (CD). We also determined the association of Marsh biopsy classification and the response in haematological parameters among the children with GFD over the follow-up time. METHODS: A prospective observational study was conducted for 1.5 years where children aged 1-10 years with newly confirmed CD (as per Marsh classification) without pre-existing chronic disease were enrolled. Individual anthropometry, biochemical and haematological parameters were recorded on enrolment and compared with 1, 3 and 6 months (follow-up) after initiating GFD (as per World Health Organization growth charts). STATISTICAL ANALYSIS: The data were entered in MS Excel spreadsheet and analysis was done using Statistical Package for Social Sciences version 21.0. A P value of < 0.05 was considered significant. RESULTS: A total of 51 (out of 55) children with CD completed 6-month follow-up. A significant improvement in the growth and biochemical parameters was seen at 6-month follow-up with the GFD (P < 0.05). There was a significantly decreasing Hb (at enrolment and at 3 months) with increasing Marsh biopsy grade-it was significantly less with Marsh 3C and more with Marsh 3A. A significantly better %Hb improvement was seen in children with Marsh biopsy 3C as compared to 3A and 3B (P < 0.05). We found no significant association of Marsh biopsy with Malabsorption, type of anaemia and Serum ferritin levels (P > 0.05). CONCLUSIONS: GFD showed significant improvement in the growth and development of the child with a significant reduction in anaemia at 6 months. With increasing grade of Marsh biopsy, the severity of anaemia increases but after the initiation of GFD, such children show significantly better improvement in %Hb over time.