Health-Related Quality of Life in Children and Adolescents With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis.

OBJECTIVE: To conduct a systematic review (SR) and meta-analysis (MA) on health-related quality-of-life (QoL) and associated factors among children/adolescents with congenital adrenal hyperplasia (CAH). METHOD: Following registration in the PROSPERO International Prospective Register of Systematic Reviews(reg no: CRD42022313389), Google Scholar, PubMed, LILACS, Cochrane, and Scopus databases were searched up to March 5, 2022, using predefined search strategy/MESH terms to identify original studies describing/assessing self-reported/parent-reported health-related QoL in patients with CAH ≤21 years. Methodological quality was assessed by Newcastle-Ottawa Quality Assessment Scale (NOS), and heterogeneity by I2 statistics. MA assessed mean difference (MD) in QoL between children/adolescents with CAH and healthy children/adolescents. RESULTS: Among 1308 publications, the 12 studies eligible for the SR (CAH n = 781) showed NOS scales of 3 to 7/9, and the 6 eligible for MA (CAH n = 227) showed moderate-considerable heterogeneity. MA showed that parent-reported psychosocial QoL (MD 9.9 [-12.6,7.3], P ≤ .001) {consisting of school (MD 7.4[-12.2, -2.5], P = .003), emotional (MD 5.6 [-10.2, -0.9], P = .02) and social domains (MD 4.3 [-8.1, -0.5], P = .03), and self-reported school domain QoL (MD 8.5 [-15.9, -1.2], P = .02) was lower in children/adolescents with CAH while parent-reported and self-reported physical QoL were similar to controls.Factors associated with lower QoL among children/ adolescents with CAH included poor disease control, poor medication compliance, and complications including hyperpigmentation, virilization, hypertension, hospital admission, and urinary incontinence. CONCLUSION: Based on available data, children/adolescents with CAH had preserved physical QoL but impaired psychosocial QoL, especially in the school domain. Factors associated with lower QoL included poor disease control and disease/treatment-related complications. There is a need for further high-quality research that investigates the relationship between disease control, provision of psychosocial support, and improvement in QoL in children/adolescents with CAH.

Bone health in childhood and adolescence: an overview on dual-energy X-ray absorptiometry scanning, fracture surveillance and bisphosphonate therapy for low-middle-income countries.

Bone accrual in childhood determines bone health in later life. Loss of bone strength in early life can lead to increased morbidity and reduced quality of life in childhood and adolescence. Increased availability of assessment tools and bisphosphonate therapy, together with increased awareness on the significance of fracture history and risk factors, have led to greater opportunities, to improve detection and optimize management of children and adolescents with bone fragility globally, including those in lower resource settings. Bone mineral density z-scores and bone mineral content are surrogate measures of bone strength, which can be measured by dual-energy X-ray absorptiometry (DXA), in growing individuals. DXA can aid in the diagnosis and management of primary and secondary bone fragility disorders in childhood. DXA helps evaluate children with clinically significant fractures, and monitor those with bone fragility disorders, or at high risk for compromised bone strength. Obtaining DXA images can however be challenging, especially in younger children, due to difficulty in positioning and movement artefacts, while paediatric DXA interpretation can be confounded by effects of growth and puberty. Furthermore, access to DXA facilities as well as appropriate paediatric reference norms and expertise for interpretation, may not be easily available especially in lower resource settings. Pediatric bone experts are now placing increasing emphasis on the fracture phenotype and clinical context to diagnose osteoporosis over bone mineral density (BMD) by DXA. Low trauma vertebral fractures are now recognized as a hallmark of bone fragility, and spinal fracture surveillance by either conventional lateral thoracolumbar radiographs or vertebral fracture assessment by DXA is gaining increasing importance in diagnosing childhood osteoporosis, and initiating bone protective therapy. Furthermore, it is now understood that even a single, low-trauma long bone fracture can signal osteoporosis in those with risk factors for bone fragility. Intravenous bisphosphonate therapy is the mainstay of treatment for childhood bone fragility disorders. Other supportive measures to improve bone strength include optimizing nutrition, encouraging weight bearing physical activity within the limits of the underlying condition, and treating any associated endocrinopathies. With this paradigm shift in childhood osteoporosis evaluation and management, lack of DXA facilities to assess BMD at baseline and/or provide serial monitoring is not a major barrier for initiating IV bisphosphonate therapy in children in whom it is clinically indicated and would benefit from its use. DXA is useful, however, to monitor treatment response and optimal timing for treatment discontinuation in children with transient risk factors for osteoporosis. Overall, there is lack of awareness and paucity of guidelines on utilizing and adopting available resources to manage paediatric bone disorders optimally in lower-resource settings. We provide an evidence-based approach to the assessment and management of bone fragility disorders in children and adolescents, with appropriate considerations for lower resource settings including LMIC countries.

Fetal programming of obesity and type 2 diabetes.

The prevalence of obesity and type 2 diabetes mellitus has increased rapidly over the past few decades, and prevention efforts have not been successful. Fetal programming involves the earliest stage of obesity development, and provides a novel concept to complement other strategies for lifelong prevention of obesity and type 2 diabetes mellitus. The World Health Organization now advocates a life-course approach to prevent/control obesity, starting with pre-conceptional and antenatal maternal health. Maternal overnutrition, gestational diabetes mellitus and excessive gestational weight gain lead to fetal overgrowth, and "programs" the offspring with an increased risk of obesity and type 2 diabetes mellitus in childhood and adulthood. This review summarizes current data on fetal programming of obesity and type 2 diabetes mellitus including potential causative factors, mechanisms and interventions to reduce its impact.

Effectiveness and acceptability of a novel school-based healthy eating program among primary school children in urban Sri Lanka.

BACKGROUND: Obesity rates are rising rapidly in low-middle-income-countries (LMICs). School-based interventions have shown moderate efficacy in improving diet and lifestyle associated with obesity in high-income countries. However, there is little data available on effective interventions suitable for LMICs. We devised a novel program for primary school children including a simple storybook and sticker-based food-diary (FD) and conducted a pilot study to evaluate the acceptability and short-term effectiveness of the program. METHODS: This pre-post intervention study included grade 1 and 2 students from four public schools in Colombo, Sri Lanka. Weight and height were assessed, and participating children self-monitored their diet using sticker-based FDs for one week at baseline (pre-test). The following week, class teachers discussed the storybook, which incorporated the benefits/disadvantages of a healthy/unhealthy diet and lifestyle in classrooms. At the end of the intervention, participating children were self-monitoring their diet again for a week (post-test). A simple scoring system was used to derive a weekly score based on the healthiness of the meals consumed each week (FD-score). The primary outcome of the study was change in eating habits following the story book discussion (post-test FD score - pre-test FD score). Acceptability and effectiveness were also assessed by anonymized feedback questionnaires for parents and teachers. RESULTS: One thousand and forty-two students completed the program. There was an improvement in eating habits of participating children, with FD scores improving by 12% from 51 ± 23 at baseline to 63 ± 24 following the intervention (p < 0.001). Further, when considering BMI category of participants: 69.1% were normal weight (NW), 18.3% underweight (UW), 7.4% overweight (OW) and 5.2% obese (OB). Improvement in eating habits were seen among children of all BMI categories (change in FD-score: UW 13.2%, NW 12.3%, OW 10.4% and OB 12.4% (p < 0.001)). Furthermore,> 90% parents(n = 1028) and > 95% teachers(n = 39) strongly agreed/agreed that the intervention was easy to implement, motivated children and led to an observable improvement in healthy eating. CONCLUSION: This novel program led to an immediate improvement in eating habits and was well accepted by parents and teachers making it a potentially suitable intervention for wider implementation in primary schools in urban Sri Lanka.

Gender-role behaviour and gender identity in girls with classical congenital adrenal hyperplasia.

INTRODUCTION: Girls with classical congenital adrenal hyperplasia (CAH) are exposed to excess fetal adrenal androgens in-utero, and often born with masculinised genitalia. They are conventionally reared as females, but show more "boyish" gender-role behaviour (GRB) and gender-identity (GI) issues in childhood and adolescence. Male-rearing is also reported mainly due to delayed treatment and/or socio-cultural factors. We compared GRB/GI in girls with CAH with healthy age matched children, and explored for associations with socio-demographic and diagnosis/treatment related factors. METHODS: GRB and GI were assessed using the Gender Identity Questionnaire for children (GIQC) in 27 girls with classical CAH at a specialised clinic, and compared with 50 age-matched healthy controls, with exploratory-analysis based on socio-demographic and diagnosis/treatment-related factors. RESULTS: Girls with CAH had lower total GIQC scores compared to healthy children (3.29 vs. 4.04, p = < 0.001) with lower GRB score (3.39 vs. 4.23, p < 0.001), and tendency for lower GI score (3.19 vs. 3.5, p = 0.08). Exploratory analysis showed no differences based on diagnosis/treatment factors including age, degree of virilisation at diagnosis and surgical procedures. and only subtle changes based on ethnicity and maternal education. DISCUSSION/CONCLUSION: Girls with CAH managed at a specialised centre showed more masculinised GRB and tendency for ambiguous GI, which did not vary upon diagnosis/treatment related factors, suggesting that prenatal androgen exposure was the likely contributor. Clinicians should be vigilant about the increased risk of gender-related problems in girls with CAH, irrespective of sociocultural background and despite early treatment.

Pediatric diabetes care in Sri Lanka and Bangladesh: Reaching the community.

Diabetes is a major non-communicable disease with long-term complications. Over one million children and adolescents are affected with type 1 diabetes in the world. The number of children and adolescents with type 2 diabetes is also on the rise due to the increase incidence of childhood diabetes. South East Asian (SEA) contributes 184 100 children and adolescents with type 1 diabetes under the age of 20 years for this global health issue as at 2019. Countries of SEA region share same socio demographic, cultural, and economic challenges when it comes to holistic care of affected children. It is timely to discuss common concerns of these countries to give the best possible care for children affected with diabetes to minimize the burden of diabetes related complications, which would potentially affect the socioeconomic development of the respective countries.

Van Wyk-Grumbach syndrome and oligosyndactyly in a 6-year-old girl: a case report.

BACKGROUND: Van Wyk-Grumbach syndrome refers to the development of isosexual precocious pseudopuberty and multicystic enlarged ovaries in the presence of hypothyroidism and delayed bone age. It is a rare presentation of untreated hypothyroidism. The prepubertal response in Van Wyk-Grumbach syndrome is always isosexual and mediated by very high thyroid-stimulating hormone levels acting through the follicle-stimulating hormone receptors inducing a follicle-stimulating hormonal effect. Early recognition and thyroid hormone replacement can completely regress precocious puberty and ovarian enlargement, while improving the final height achievement. Oligosyndactly is a congenital bony abnormality and can manifest either as an isolated malformation or as a component of a syndromic diagnosis. However, development of hypothyroidism in children with this peculiar bony deformity has rarely been described in the medical literature, with the exception of Cenani-Lenz Syndactyly syndrome. CASE PRESENTATION: We report the case of a 6-year-old Sri Lankan girl who presented with a 2-day history of vaginal bleeding and exertional dyspnea. She had marked short stature (well below -3 standard deviations) with an upper segment to lower segment ratio of 1.47. This girl had isolated breast development of Tanner stage 2. She was diagnosed to have acquired hypothyroidism secondary to autoimmune thyroiditis and also had macrocytic anemia, pericardial effusion, gonadotropin-releasing hormone-independent precocious puberty with radiological evidence of pubertal changes in the uterus, and multicystic ovaries. Interestingly, she also had post-axial oligosyndactyly in both feet and right-sided clubfoot. The diagnosis of Van Wyk-Grumbach syndrome was made based on the clinical and laboratory features. Her symptoms were successfully managed with L-thyroxine therapy. CONCLUSIONS: Acquired hypothyroidism is a relatively common endocrine disorder among children and early recognition is important to prevent serious complications like Van Wyk-Grumbach syndrome. Sexual precocity with delayed bone age and stunting should direct our minds toward this unique diagnosis. It is always necessary to identify the other associated anomalies in addition to the primary diagnosis since these features may direct to a syndromic diagnosis.