Chris Plauché Johnson

The Screening and Diagnosis of Autistic Spectrum Disorders

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.

Practice parameter: Screening and diagnosis of autism Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society

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.

Recognition of Autism Before Age 2 Years

1. Chris Plauche Johnson, MEd, MD*nnn nn1. *Editorial BoardnnAfter completing this article, readers should be able to: nn1. Characterize the deficits of a child who has autism.nn2. Describe the role of observing linguistic and social development in children who have autism.nn3. Implement a strategy for surveillance and screening of young children.nn4. Discuss the management of autism, including the use of medication.nnPrimary care physicians (PCPs) caring for 1,000 children in a general practice should expect approximately six of their patients to meet the diagnosis of an autism spectrum disorder (ASD). (1) The impact of this prevalence is illustrated by a 2004 survey of PCPs revealing that 44% cared for 10 or more patients who had an ASD. (2) The ASDs include: autistic disorder (AD), Asperger disorder, and pervasive developmental disorder—not otherwise specified (PDD-NOS), a threshold term used when a child meets some but not all criteria necessary for a diagnosis of either AD or Asperger disorder.nnResearch has documented the positive benefit of developmental and behavioral intervention for children who have ASDs, particularly when it is initiated prior to 3 years of age. (3) Early recognition of ASDs also is important for timely genetic counseling because younger siblings of children diagnosed as having ASDs have a 10 times increased risk of also having an ASD. The purpose of this review is to help the clinician recognize signs of ASDs that occur before age 2 years. Because the signs of Asperger disorder usually appear later, they are not discussed. The term “autism” is used in this review to represent both AD and its milder form, PDD-NOS.nnCurrently, autism is diagnosed infrequently in children younger than 3 years of age. The diagnostic process is prompted most often by parental concern about absent or delayed speech. However, signs of autism, especially deficits in social skills and in preverbal gestural language, are present …

Influence of depression on cognitive functioning in Fragile X females

We sought to determine the frequency of a history of major depression in women with Fragile X syndrome. In addition, we attempted to disentangle the cognitive effects of major depression from those of Fragile X syndrome. Thirty-seven mothers of developmentally delayed children (Fragile X syndrome: n = 18; comparison group n = 19), matched for age, educational level, and socioeconomic status, were administered psychiatric and neuropsychological measures. Women with Fragile X syndrome had a higher frequency of lifetime diagnosis of major depressive disorder (78%) than the comparison group (37%). Mild impairment was seen on visuospatial construction and memory tasks in women with Fragile X syndrome, while women with depression showed subtle deficits in several aspects of visuospatial perception and learning. There was no interaction of Fragile X syndrome and depression in their influence on cognition. The results underscore the importance of considering the influence of depression on cognitive performance in studies of genetic disorders.