Model-based iterative reconstruction in paediatric head computed tomography : a pilot study on dose reduction in children

Purpose: To evaluate the potential of model-based iterative reconstruction (MBIR) on dose reduction and image quality in children undergoing computed tomography (CT) head examinations. Material and methods: This prospective study was approved by the institutional ethics committee. A total of 88 children (age range of 5 to 16 years) with a history of seizures underwent contrast-enhanced CT scan. Forty-one children underwent CT study according to the MBIR technique, while 47 children underwent CT of the head with the non-MBIR protocol. Images were reviewed by 2 blinded paediatric radiologists in a random order. Mean dose-length product, CT dose index (CTDI) volume, and mean effective dose were recorded for both groups. Image quality, image noise, and diagnostic acceptability of 2 image sets were also recorded. Results: In the MBIR group, the mean dose-length product was reduced by 79.8%; the mean CTDI volume was reduced by 88.5%, while the mean effective dose was reduced by 81% when compared to the non-MBIR group. No significant difference was seen in diagnostic acceptability, image noise, and image quality between the 2 groups. Conclusions: MBIR technique is highly effective in reducing radiation dose in paediatric head CT examinations without any significant difference in image quality, image noise, and diagnostic acceptability

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the >20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. In silico predictions, heterologous expression studies, segregation analyses and metabolic tests helped to overcome limitations of current variant classification schemes that often fail to categorize a variant as disease-related or benign. The study sheds light on the genetic causes and disease-relevant changes within individual genes in CIP/HSAN. This is becoming increasingly important with emerging clinical trials investigating subtype or gene-specific treatment strategies

Gender differences in the timing of identification among children with autism

Background and Objectives: There is a paucity of research studies, especially from the low- and middle-income countries, on gender-specific clinical profiles of autism and whether this lack of information is a barrier for early diagnosis among females. The present paper examined the gender differences in the timing of identification of autism among children. Methods: The case records diagnosed children with autism spectrum disorder with no documented intellectual disability (IQ 0.05). There was a significant difference in the timing of the identification of autism by gender and females were found to be identified at significantly older ages relative to males (t = 2.13, P = 0.034). Conclusions: There is an imperative need to develop more gender-sensitive diagnostic tools incorporating the sex-specific differences in clinical presentation to improve the assessment of autism in girls

A retrospective study of toddlers with autism spectrum disorder: Clinical and developmental profile

Objective: To retrospectively examine the developmental and clinical characteristics of children with autism spectrum disorders (ASD) in the first 2 years of life in order to narrow the interval between parental concern and getting a reliable diagnosis of autism. Materials and Methods: The case records of 21 children in whom a diagnosis of ASD was made in the first 2 years of life and confirmed 6 months to 1 year later were examined. The inclusion criterion was absence of neurological, metabolic, or genetic disorders and sensory or motor impairments. These case records were maintained in the Pediatric Psychology Clinic at the Department of Pediatrics of a tertiary care teaching hospital in North India. Results: The average age at presentation to the clinic was 21.23 months (SD = 2.18). The clinical characteristics that were found in two-thirds or more children included lack of speech, inability to follow verbal commands, lack of pretend play, no index finger pointing, difficulty in playing with toys in a constructive manner, lack of joint attention, and motor stereotypies. The mean IQ was 66.62 (SD = 15.11) and the mean SQ as measured by the Vineland Social Maturity Scale was 80.43 (SD = 17.45). Conclusions: Given the validity of early diagnosis over time, clinicians should be encouraged not only to make an early diagnosis but also to initiate early interventions in children with ASD

Racemose neurocysticercosis

Racemose neurocysticercosis refers to the ‘aberrant proliferating cestode larvae” presenting as multiple, non-capsulated cystic membranes that bud exogenously giving a multilocular cystic appearance resembling a ‘bunch of grapes’. These are typically located in non-confining areas of brain such as cisterns and lack scolex, contrast-enhancement or edema. We describe a 12-year-old boy with acute-onset headache, vomiting, drowsiness and irrelevant speech, irritability, meningismus, brisk muscle-stretch-reflexes and Babinski’s sign. Magnetic resonance imaging brain revealed racemose neurocysticercosis. He received ventriculo-peritoneal shunt, oral corticosteroids and albendazole for 4 weeks. Racemose cysts in neurocysticercosis are a rare presentation in children. Treatment is difficult.Racemose neurocysticercosis refers to the ‘aberrant proliferating cestode larvae” presenting as multiple, non-capsulated cystic membranes that bud exogenously giving a multilocular cystic appearance resembling a ‘bunch of grapes’. These are typically located in non-confining areas of brain such as cisterns and lack scolex, contrast-enhancement or edema. We describe a 12-year-old boy with acute-onset headache, vomiting, drowsiness and irrelevant speech, irritability, meningismus, brisk muscle-stretch-reflexes and Babinski’s sign. Magnetic resonance imaging brain revealed racemose neurocysticercosis. He received ventriculo-peritoneal shunt, oral corticosteroids and albendazole for 4 weeks. Racemose cysts in neurocysticercosis are a rare presentation in children. Treatment is difficult. Keywords: Racemose, Neurocysticercosis, Intraventricular, Hydrocephalu