Roberto F. Tuchman

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.

AUTISM: DEFINITION, NEUROBIOLOGY, SCREENING, DIAGNOSIS

Autism (ie, the autism spectrum disorders) is now recognized in 1 in 150 children. This article highlights the definition, neurobiology, screening, and diagnosis of autism. The genetics, immunology, imaging, and neurophysiology of autism are reviewed, with particular emphasis on areas that impact pediatricians. Early recognition of the social deficits that characterize autism is key to maximizing the potential of these children.

Autism and epilepsy: Historical perspective

Autism spectrum disorders (ASD) and epilepsy co-occur in approximately 30% of individuals with either ASD or epilepsy. While there is no single unifying ASD-epilepsy phenotype, understanding potential commonalities in subgroups of children with an ASD-epilepsy phenotype will help us disentangle the pathophysiology of both ASD and epilepsy. Throughout this brief historical perspective we selectively review critical trends in ASD-epilepsy research and highlight challenges to clinical and research efforts including terminology, heterogeneity of both ASD and epilepsy, and lack of careful characterization of children affected with both ASD and epilepsy. These complex issues continue to burden research on the diagnosis, neurobiology and management of children with ASD and epilepsy. A key concept that has emerged during the past 40 years is the strong association between intellectual disability and a higher prevalence of epilepsy in individuals with ASD. In addition, the two peaks of seizure onset, one in early childhood and one in adolescence and continuing through adulthood may be unique to individuals with ASD. The overlap of language and autistic regression to epilepsy, EEG epileptiform activity, sleep, and to epileptic encephalopathies such as Landau-Kleffner syndrome continue to be controversial areas of research and of clinical interest. An emerging consensus is that shared developmental genetic, molecular and pathophysiological mechanisms exist and account for the common co-occurrence of ASD and epilepsy.

Autism and pervasive developmental disorders

OBJECTIVE To review the current knowledge on neurobiological aspects of autism and pervasive developmental disorders, as well as to provide pediatricians with up to date information on diagnosis and treatment of autism. SOURCES OF DATA Review of MEDLINE and Internet. SUMMARY OF THE FINDINGS Autism is the 3rd developmental disorder, with an incidence of 40 to 130/100,000 individuals. Diagnosis is based on clinical findings, following DSM IV criteria. Neuroimaging, investigation of fetal neurological status, and genetic investigation contribute towards a better understanding of the neurobiology of autism. CONCLUSION Pediatricians are the first health professional to come in contact with patients with autism. Thus, they should be able to diagnose and to coordinate the multidisciplinary treatment of these patients.OBJETIVO: Revisar os aspectos neurobiologicos do autismo e das doencas invasivas de desenvolvimento. Oferecer ao pediatra informacoes atualizadas sobre diagnostico e tratamento. FONTES DOS DADOS: Revisao bibliografica, abordando o tema por meio do sistema MEDLINE e procura direta. SINTESE DOS DADOS: Conforme dados da literatura, o autismo e a terceira mais comum desordem no desenvolvimento, ocorrendo em 40 a 130 casos por 100.000. O diagnostico e clinico, baseado nos criterios do DSM-IV. Os exames de neuroimagem e neurofetologia e os estudos geneticos contribuem para o melhor entendimento da neurobiologia do autismo. CONCLUSAO: O pediatra e o primeiro medico a entrar em contato com o paciente autista e deve estar apto para reconhecer os desvios do desenvolvimento e orientar a investigacao e o tratamento multidisciplinar.

Autism spectrum disorders and epilepsy : Moving towards a comprehensive approach to treatment

The biological and phenotypic heterogeneity of children with autism spectrum disorders (ASD) and epilepsy presents a significant challenge to the development of effective treatment protocols. There is no single treatment or treatment protocol for children with ASD or epilepsy. Children with co-occurring ASD and epilepsy should undergo a comprehensive assessment that includes investigation of underlying biological etiologies as well assessment of cognitive, language, affective, social and behavioral function prior to initiating treatment. The comprehensive treatment of children with ASD is based on a combination of therapeutic psychosocial interventions in combination with pharmacological agents. A process-oriented approach to assessment and intervention allows careful analysis of the childs response to treatment such that treatment protocols may be revised secondary to any changes in developmental trajectory of the child with ASD and epilepsy. The possibility of developing pharmacological interventions that target both ASD and epilepsy awaits definitive evidence. The best hope for good developmental outcomes in children with ASD and epilepsy is early recognition and comprehensive treatment of both the ASD and epilepsy.

What is new in autism

Purpose of reviewAutism is now recognized in one out of 150 children. This review highlights the topics within the growing autism literature that are shaping current thinking on autism and advancing research and clinical understanding of autism spectrum disorders. Recent findingsThe role of single-stranded microdeletions and epigenetic influences on brain development has dramatically altered our understanding of the etiology of the autisms. Recent research has focused on the role of synapse structure and function as central to the development of autism and suggests possible targets of interventions. Brain underconnectivity has been a focus in recent imaging studies and has become a central theme in conceptualizing autism. Despite increased awareness of autism there is no ‘epidemic’ and no one cause for autism. Data from the sibling studies are identifying early markers of autism and defining the broader autism phenotype. SummaryLarger datasets in genetics, a focus on the early signs of autism, and increased recognition of the importance of defining subgroups of children with autism are leading to a greater understanding of the etiologies of autism. A growing interest in defining the molecular biology of social cognition, which is at the core of autism, will lead to expansion of our presently limited choices of mechanistically based interventions.

Mortality in Individuals With Autism, With and Without Epilepsy

Previous studies show higher mortality rates among individuals with autism than the general population. Comorbidity with epilepsy is an assumed, often ill-defined factor in the increased mortality rates of individuals with autism. Data from the Autism Tissue Program, a tissue donation program established to support biomedical research on autism, show that approximately one-third of its brain donors with autism also had epilepsy. Analysis of new data from the California State Department of Developmental Services is consistent with past reports showing that there is a higher than expected rate of mortality in individuals with autism and epilepsy than autism alone. Accurate, complete and accessible records on cause of death are necessary not just for brain research, but also for understanding risk factors that contribute to early death in individuals with autism spectrum disorders. Various national health care and state developmental disability agency initiatives to reduce risk of mortality are described.

Autism and social cognition in epilepsy: implications for comprehensive epilepsy care.

PURPOSE OF REVIEW The association of epilepsy, autism spectrum disorders (ASD) and social cognition is now well recognized. The overlap of these disorders is generating increasing scientific and clinical interest as the comprehensive management of epilepsy has expanded to include the cognitive and social consequences commonly being recognized as an integral part of epilepsy disorders. RECENT FINDINGS Recent studies have shown that in individuals with ASD and intellectual disability the rate of epilepsy is as high as 20%. In those with ASD and no intellectual disability the rates of epilepsy are approximately 8%. In epilepsy those most likely to have ASD are those with intellectual disability. There is limited information regarding how often ASD impacts epilepsy and less data on the effect of epilepsy on social cognition. There is a convergence of evidence that when epilepsy coexists with ASD and intellectual disability they share etiopathogenic mechanisms. SUMMARY There is a significant and important overlap between epilepsy and ASD and this has important implications for comprehensive care of all individuals with epilepsy. Early recognition of social deficits is essential. Treating the seizures in individuals with epilepsy and ASD is not enough. Clinicians need to be aware of and implement interventions that address the social-cognitive deficits.