Pervasive developmental disorders are a group of neurodevelopmental disorders characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. The term autism spectrum disorders (ASD) has been used to describe their variable presentation. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. More research is needed to explore environmental factors that could be contributing to the cause of these disorders. The occurrence of ASD has been increasing worldwide, with the most recent prevalence studies indicating that they are present in 6 per 1000 children. The objectives of this article are to provide physicians with relevant information needed to identify and refer children presenting with symptoms suggestive of ASDs to specialized centers early, and to make them feel comfortable in dealing with public concerns regarding controversial issues about the etiology and management of these disorders.
IntroductIon: Low birth weight is associated with obesity and an increased risk for metabolic/cardiovascular diseases in later life. results: The results of the snack delay test, which encompassed four distinct trials, indicated that the gender × intrauterine growth restriction (IUGR) × trial interaction was a predictor of the ability to delay the food reward (P = 0.002). among children with normal birth weights, girls showed a greater ability to delay food rewards than did boys (P = 0.014).In contrast, among children with IUGR, there was no such differential ability between girls and boys. Furthermore, in girls, impulsive responding predicted both increased consumption of palatable fat (P = 0.007) and higher BMIs (P = 0.020) at 48 mo of age, although there was no such association with BMI at 36 mo. dIscussIon: In girls, the quality of fetal growth may contribute to impulsive eating, which may promote an increased intake of fats and consequently higher BMIs. as with the original thrifty phenotype, such a mechanism would be adaptive when food supplies are sparse, but would be problematic in societies with ample access to calorically rich foods. Methods: We examined whether the quality of intrauterine growth programs obesogenic eating behaviors, by investigating (i) the relationship between birth weight and impulsive eating in 3-year-old children (using the snack delay test), and (ii) whether impulsive eating predicts fat intake and/or BMI at 4 years of age (using a laboratory-based test meal).
Objective: To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. Clinical Presentation and Intervention: A neonate, born to first-degree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the required blood work, which included both a septic and a metabolic workup. A deficiency in erythrocyte galactose-1-phosphate uridyltransferase was found, and this led to the diagnosis of classic galactosemia and the elimination of galactose from the diet. Furthermore, a diagnosis of left unilateral Peters’ anomaly was made after examination by a pediatric ophthalmologist. The patient was discharged in stable condition and follow-up visits were scheduled with the metabolic clinic, a dietician, and the pediatric ophthalmologist. Conclusion: This was a case of classic galactosemia presenting with Peters’ anomaly, probably due to autosomal recessive disorder from first-degree consanguinity marriage.
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