Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in early recognition of autism spectrum disorders, because they usually are the first point of contact for parents. Parents are now much more aware of the early signs of autism spectrum disorders because of frequent coverage in the media; if their child demonstrates any of the published signs, they will most likely raise their concerns to their child's pediatrician. It is important that pediatricians be able to recognize the signs and symptoms of autism spectrum disorders and have a strategy for assessing them systematically. Pediatricians also must be aware of local resources that can assist in making a definitive diagnosis of, and in managing, autism spectrum disorders. The pediatrician must be familiar with developmental, educational, and community resources as well as medical subspecialty clinics. This clinical report is 1 of 2 documents that replace the original American Academy of Pediatrics policy statement and technical report published in 2001. This report addresses background information, including definition, history, epidemiology, diagnostic criteria, early signs, neuropathologic aspects, and etiologic possibilities in autism spectrum disorders. In addition, this report provides an algorithm to help the pediatrician develop a strategy for early identification of children with autism spectrum disorders. The accompanying clinical report addresses the management of children with autism spectrum disorders and follows this report on page 1162 [available at www.pediatrics.org/cgi/content/full/120/5/1162]. Both clinical reports are complemented by the toolkit titled “Autism: Caring for Children With Autism Spectrum Disorders: A Resource Toolkit for Clinicians,” which contains screening and surveillance tools, practical forms, tables, and parent handouts to assist the pediatrician in the identification, evaluation, and management of autism spectrum disorders in children.
Pediatricians have an important role not only in early recognition and evaluation of autism spectrum disorders but also in chronic management of these disorders. The primary goals of treatment are to maximize the child's ultimate functional independence and quality of life by minimizing the core autism spectrum disorder features, facilitating development and learning, promoting socialization, reducing maladaptive behaviors, and educating and supporting families. To assist pediatricians in educating families and guiding them toward empirically supported interventions for their children, this report reviews the educational strategies and associated therapies that are the primary treatments for children with autism spectrum disorders. Optimization of health care is likely to have a positive effect on habilitative progress, functional outcome, and quality of life; therefore, important issues, such as management of associated medical problems, pharmacologic and nonpharmacologic intervention for challenging behaviors or coexisting mental health conditions, and use of complementary and alternative medical treatments, are also addressed.
Article abstract-Autism is a common disorder of childhood, affecting 1 in 500 children. Yet, it often remains unrecognized and undiagnosed until or after late preschool age because appropriate tools for routine developmental screening and screening specifically for autism have not been available. Early identification of children with autism and intensive, early intervention during the toddler and preschool years improves outcome for most young children with autism. This practice parameter reviews the available empirical evidence and gives specific recommendations for the identification of children with autism. This approach requires a dual process: 1) routine developmental surveillance and screening specifically for autism to be performed on all children to first identify those at risk for any type of atypical development, and to identify those specifically at risk for autism; and 2) to diagnose and evaluate autism, to differentiate autism from other developmental disorders.This statement has been endorsed
The Child Neurology Society and American Academy of Neurology recently proposed to formulate Practice Parameters for the Diagnosis and Evaluation of Autism for their memberships. This endeavor was expanded to include representatives from nine professional organizations and four parent organizations, with liaisons from the National Institutes of Health. This document was written by this multidisciplinary Consensus Panel after systematic analysis of over 2,500 relevant scientific articles in the literature. The Panel concluded that appropriate diagnosis of autism requires a dual-level approach: (a) routine developmental surveillance, and (b) diagnosis and evaluation of autism. Specific detailed recommendations for each level have been established in this document, which are intended to improve the rate of early suspicion and diagnosis of, and therefore early intervention for, autism.
The pathophysiology of gastric dysfunction in diabetes mellitus -known as diabetic gastropathy -is obscure. Typically, these patients manifest symptoms of gastric retention while radiographic, endoscopic, and nuclear scintigraphic studies show evidence of delayed gastric emptying of both solid and liquid meals. However, this particular syndrome -known as gastroparesis diabeticorum -contrasts with occasional studies which show that some diabetic patients (both type I and type II) may show accelerated gastric emptying of a liquid meal.5-10 Hence, the effect of diabetes mellitus on gastric emptying in humans is confusing. The purpose of this investigation was to examine the influence of diabetes mellitus on gastric emptying of a solid meal in two groups of insulin dependent diabetic subjects, namely those who had and those who did not have symptoms of upper gastrointestinal dysfunction. MethodsTwenty one insulin dependent diabetic subjects volunteered for the study. None were taking any medications known to affect gastrointestinal motility and non had undergone gastric or intestinal surgery. The presence of renal failure, or treatment with haemodialysis or chronic ambulatory peritoneal dialysis did not disqualify any patient from entering the study. On the day of the study, each patient underwent a history and physical examination that was performed by one of the authors (TVN), measurement of the fasting blood sugar, evaluation of orthostatic changes in pulse and blood pressure, and an electrocardiogram to measure the respiratory variation in heart rate during full expiration and full inspiration (E:I ratio). Each patient also underwent a brief sensory neurological examination that included evaluation of peripheral sharp versus dull discrimination and perception of soft touch and vibration.Each patient was specifically questioned by the interviewer (TVN) about upper gastrointestinal symptoms such as nausea, vomiting, Nowak, J7ohnson, Kalbfleisch, Roza, Wood, Weisbruch, Soergel early satiety, and lower gastrointestinal symptoms such as diarrhoea and constipation. Nausea was defined as the sensation of epigastric or abdominal queasiness that typically precedes frank vomiting. Vomiting was defined as the forceful ejection of gastric contents through the mouth. During questioning careful distinction was made on the part of the interviewer to distinguish vomiting from regurgitation. Early satiety was defined as the premature sensation of postprandial abdominal fullness. Symptoms such as diarrhoea or constipation was considered present if the patient subjectively felt that he or she had an abnormal evacuation pattern, that the abnormal evacuation pattern had been present for more than six months, and that the current evacuation pattern represented a change from that which was present from when the patient felt 'healthy'. (time 0) and then at 10 minute intervals with the subjects standing apposed to the collimator. All studies of diabetic patients were continued until less than 40% of the starting count remained in the ...
Early identification of children with developmental delays is important in the primary care setting. The pediatrician is the best-informed professional with whom many families have contact during the first 5 years of a child's life. Parents look to the pediatrician to be the expert not only on childhood illnesses but also on development. Early intervention services for children from birth to 3 years of age and early childhood education services for children 3 to 5 years of age are widely available for children with developmental delays or disabilities in the United States. Developmental screening instruments have improved over the years, and instruments that are accurate and easy to use in an office setting are now available to the pediatrician. This statement provides recommendations for screening infants and young children and intervening with families to identify developmental delays and disabilities.
Neurobehavioral correlates of CGG amplification were studied in 17 nonretarded adult female carriers of fragile X syndrome. The results revealed a significant relationship between IQ and the number of CGG repeats in the 5' untranslated region of the FMR1 gene. Women with a full mutation (> 200 CGG repeats) scored below average in IQ, visual-spatial perception, visual-spatial organization, and executive function. There were no differences in fine motor dexterity or memory as a function of CGG amplification status. A history of major depressive disorder was identified in 71% of the sample, but incidence of depression was not associated with the degree of CGG amplification. Schizotypal features were noted in 18%. No intellectual or neuropsychological deficit was found in women with a premutation (< 200 CGG repeats). Decrements in IQ, visual-spatial perception, and executive function appear to arise as a consequence of the CGG amplification.
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