The Indian Journal of Pediatrics最新文献

Objectives

To estimate and compare the prevalence of epilepsy during childhood using several approaches and also to determine whether school-based screening campaigns can capture epilepsy cases efficiently.

Methods

Epilepsy prevalence determined from cases captured through the Rashtriya Bal Swasthya Karyakram (RBSK), a nationwide school-health screening framework, were compared with estimates derived from school- and community-based surveys in one Indian district. Level-1 screen comprised perusal of child health registers maintained by the RBSK teams over one year to estimate the documented number of children with epilepsy; Level-2 screen comprised a questionnaire-based school survey among 10,000 school children; and Level-3 screen-a door-to-door community-based survey among 10,000 children in the district.

Results

Prevalence estimates of childhood epilepsy varied significantly across screening methods. The child health register identified lower crude and age-adjusted prevalences of 40 (95% CI, 24 to 55) and 36 (95% CI, 20 to 51)/1,00,000 vis-à-vis both the school survey [crude and age-adjusted prevalences of 354 (95% CI, 221 to 487) and 340 (95% CI, 181 to 517) per 100,000] and the community survey [crude and age-adjusted prevalences of 759 (95% CI, 591 to 927) and 746 (95% CI, 579 to 914) per 100,000]. The community survey identified 15 children with epilepsy (20%) who had dropped out of school. Also, it recaptured a small number of children previously identified by the school or child health register surveys.

Conclusions

The present findings underscore the need to scale up the capacity of public programs to screen epilepsy among school children and underline the high frequency of school dropouts among children with epilepsy in resource-limited settings.

Retinoblastoma (RB) is the most common childhood intraocular malignancy. Delayed presentation due to a lack of awareness and advanced intraocular tumors are a common scenario in low-middle income countries (LMICs). Remarkable treatment advances have been made in the past few decades allowing globe salvage in advanced intraocular RB (IORB) including systemic chemotherapy with focal consolidation and targeted treatments like intraarterial chemotherapy and intravitreal chemotherapy. However, a lack of availability and affordability limits the use of such advances in LMICs. External beam radiotherapy, despite risk of second cancers in RB with germline mutations, still remains useful for recalcitrant RB not responding to any other treatment. When choosing conservative treatment for advanced IORB, the cost and long duration of treatment, morbidity from multiple evaluation under anesthesias (EUAs), side effects of treatment and risk of treatment failure need to be taken into account and discussed with the parents. In this article, the authors discuss the ICMR consensus guidelines on the management of IORB.

Objectives

To examine the relationship between sleep and subcortical brain structures using a shape analysis approach.

Methods

A total of 98 children with overweight/obesity (10.0 ± 1.1 y, 59 boys) were included in the cross-sectional analyses. Sleep behaviors (i.e., wake time, sleep onset time, total time in bed, total sleep time, sleep efficiency, and wakening after sleep onset) were estimated with wrist-worn accelerometers. The shape of the subcortical brain structures was acquired by magnetic resonance imaging. A partial correlation permutation approach was used to examine the relationship between sleep behaviors and brain shapes.

Results

Among all the sleep variables studied, only total time in bed was significantly related to pallidum and putamen structure, such that those children who spent more time in bed had greater expansions in the right and left pallidum (211–751 voxels, all p’s <0.04) and right putamen (1783 voxels, p = 0.03).

Conclusions

These findings suggest that more time in bed was related to expansions on two subcortical brain regions in children with overweight/obesity.

Objectives

To elucidate the electroclinical characteristics of infantile epileptic spasms syndrome (IESS) and to determine any potential association among these with underlying etiologies and response to therapy.

Methods

Sixty-eight, treatment-naive children with IESS underwent long-term video electroencephalogram (EEG) recording, which was used to characterize the semiology, ictal, and inter-ictal EEG patterns. Children were further followed up to assess electroclinical predictors of etiologies and short-term therapeutic response.

Results

Of 68 children enrolled (69% boys), the median age at enrollment was 10.5 mo (IQR-8). Eighty-eight percent of children had flexor spasms, followed by mixed (7%) and extensor (4.4%). Asymmetrical spasms were noted in 17.6% children, and all of them had underlying structural etiology. Two children had the status of epileptic spasms. In the present cohort, authors recognized five distinct ictal EEG correlates of epileptic spasms; the frontocentral dominant slow wave was the most prevalent (32%), followed by the generalized slow-wave complex with superimposed fast rhythm in 29.4%. The occipital dominant slow wave complex was a peculiar pattern in 16%. The major underlying etiologies were hypoxic-ischemic brain injuries (36.7%) and neonatal hypoglycemic brain injuries (22%). Besides asymmetric spasms, authors could not identify any significant association among electroclinical characteristics, underlying etiologies and response to therapy in this study.

Conclusions

The electroclinical landscape of IESS is peculiar and diverse in developing countries. The presence of asymmetrical spasms indicated underlying structural etiology.

Abstract

Congenital diarrhea and enteropathies (CODEs) constitute a group of rare genetic disorders characterized by severe diarrhea and malabsorption in the neonatal period or early infancy. Timely diagnosis and treatment is essential to prevent life-threatening complications, including dehydration, electrolyte imbalance, and malnutrition. This review offers a simplified approach to the diagnosis of CODEs, with a specific focus on microvillus inclusion disease (MVID), congenital tufting enteropathy (CTE), congenital chloride diarrhea (CLD), and congenital sodium diarrhea (CSD). Patients with CODEs typically present with severe watery or occasionally bloody diarrhea, steatorrhea, dehydration, poor growth, and developmental delay. Therefore, it is crucial to thoroughly evaluate infants with diarrhea to rule out infectious, allergic, or anatomical causes before considering CODEs as the underlying etiology. Diagnostic investigations for CODEs encompass various modalities, including stool tests, blood tests, immunological studies, endoscopy and biopsies for histology and electron microscopy, and next-generation sequencing (NGS). NGS plays a pivotal role in identifying the genetic mutations responsible for CODEs. Treatment options for CODEs are limited, often relying on total parenteral nutrition for hydration and nutritional support. In severe cases, intestinal transplantation may be considered. The long-term prognosis varies among specific CODEs, with some patients experiencing ongoing intestinal failure and associated complications. In conclusion, the early recognition and accurate diagnosis of CODEs are of paramount importance for implementing appropriate management strategies. Further research and advancements in genetic testing hold promise for enhancing diagnostic accuracy and exploring potential targeted therapies for these rare genetic disorders.