Shruti Garg

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AIM To investigate psychopathology in children with neurofibromatosis type 1 (NF1), particularly the prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD) symptomatology, using a population-based sampling approach. METHOD Standard questionnaire screen reports were analysed for ASD (Social Responsiveness Scale,(More)
OBJECTIVE To determine the prevalence of autism spectrum disorder (ASD) in Neurofibromatosis Type 1 (NF1). METHODS Second-phase population-based epidemiologic study using an allcase NF1 registry in a defined UK 4.1 million population area. A total of 109 (52.7%) of 207 responders from the initial screening phase were grouped by using the parent-rated(More)
Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21-40%. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking. This study characterized the(More)
AIM To investigate the cognitive and behavioural phenotype in rare disorders of the Ras/MAPK pathway, namely Noonan, cardiofaciocutaneous (CFC), and Costello syndromes, particularly prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD). METHOD Fifty children were recruited over 10 months through the regional(More)
Despite extensive literature, little is known about the mechanisms underlying sex bias in autism spectrum disorder (ASD). This study investigates the sex differences in ASD associated with neurofibromatosis type 1, a single-gene model of syndromic autism. We analysed data from n = 194 children aged 4–16 years with neurofibromatosis type 1. Sex differences(More)
Importance Recent reports have demonstrated a higher incidence of autism spectrum disorder (ASD) and substantially elevated autistic trait burden in individuals with neurofibromatosis type 1 (NF1). However, important discrepancies regarding the distribution of autistic traits, sex predominance, and association between ASD symptoms and attentional problems(More)
Noma is a gangrenous disease of the orofacial region that leads to severe facial tissue destruction and is a significant cause of death among children. With the advent of modern antibiotics and improved nutrition, children with noma may survive into adulthood, but must face the challenge of undergoing repair of the sequelae of noma. This report describes a(More)
India is a country of myriad contradictions. On the one hand, it has grown to be one of the largest economies in the world, and an increasingly important player in the emerging global order, on the other hand, it is still home to the largest number of people living in absolute poverty (even if the proportion of poor people has decreased) and the largest(More)
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