SEARCH · PubMed Health

Results for “Autism Spectrum Disorder”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 847 records · Page 47Linked to original sources

PubMedDate not supplied

Caring for children and adolescents with autism who require challenging procedures.

Providing nursing care for children with autism or autistic spectrum disorders (ASD) can be challenging. As part of a larger study of 62 children with autism ages 3-8 years (Coplan et al., 2001; Levy et al., 2001) that required difficult procedures, strategies were developed for providing care that incorporated theories and knowledge from the disciplines of nursing, child development, psychology, applied behavior analysis, and pain management. Applications of these strategies are illustrated through the process of a physical exam, phlebotomy, and intravenous (IV) insertion during a health care visit. The nurse can develop a plan of care to achieve the goals of the visit and optimize the quality of the care for the child and family. Interventions presented can be individualized to each child.

Adolescent↗

PubMed2007

Mutation screening of the ARX gene in patients with autism.

Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain abnormalities and abnormal genitalia. Furthermore, ARX mutations have been described in a few patients with autism or autistic features. In this study, we screened the ARX gene in 226 male patients with autism spectrum disorders and mental retardation; 42 of the patients had epilepsy. The mutation analysis was performed by direct sequencing of all exons and flanking regions. No ARX mutations were identified in any of the patients tested. These findings indicate that mutations in the ARX gene are very rare in autism.

Autistic Disorder↗

PubMed2004

The genetics of autism.

Autism is a complex, behaviorally defined, static disorder of the immature brain that is of great concern to the practicing pediatrician because of an astonishing 556% reported increase in pediatric prevalence between 1991 and 1997, to a prevalence higher than that of spina bifida, cancer, or Down syndrome. This jump is probably attributable to heightened awareness and changing diagnostic criteria rather than to new environmental influences. Autism is not a disease but a syndrome with multiple nongenetic and genetic causes. By autism (the autistic spectrum disorders [ASDs]), we mean the wide spectrum of developmental disorders characterized by impairments in 3 behavioral domains: 1) social interaction; 2) language, communication, and imaginative play; and 3) range of interests and activities. Autism corresponds in this article to pervasive developmental disorder (PDD) of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition and International Classification of Diseases, Tenth Revision. Except for Rett syndrome--attributable in most affected individuals to mutations of the methyl-CpG-binding protein 2 (MeCP2) gene--the other PDD subtypes (autistic disorder, Asperger disorder, disintegrative disorder, and PDD Not Otherwise Specified [PDD-NOS]) are not linked to any particular genetic or nongenetic cause. Review of 2 major textbooks on autism and of papers published between 1961 and 2003 yields convincing evidence for multiple interacting genetic factors as the main causative determinants of autism. Epidemiologic studies indicate that environmental factors such as toxic exposures, teratogens, perinatal insults, and prenatal infections such as rubella and cytomegalovirus account for few cases. These studies fail to confirm that immunizations with the measles-mumps-rubella vaccine are responsible for the surge in autism. Epilepsy, the medical condition most highly associated with autism, has equally complex genetic/nongenetic (but mostly unknown) causes. Autism is frequent in tuberous sclerosis complex and fragile X syndrome, but these 2 disorders account for but a small minority of cases. Currently, diagnosable medical conditions, cytogenetic abnormalities, and single-gene defects (eg, tuberous sclerosis complex, fragile X syndrome, and other rare diseases) together account for <10% of cases. There is convincing evidence that "idiopathic" autism is a heritable disorder. Epidemiologic studies report an ASD prevalence of approximately 3 to 6/1000, with a male to female ratio of 3:1. This skewed ratio remains unexplained: despite the contribution of a few well characterized X-linked disorders, male-to-male transmission in a number of families rules out X-linkage as the prevailing mode of inheritance. The recurrence rate in siblings of affected children is approximately 2% to 8%, much higher than the prevalence rate in the general population but much lower than in single-gene diseases. Twin studies reported 60% concordance for classic autism in monozygotic (MZ) twins versus 0 in dizygotic (DZ) twins, the higher MZ concordance attesting to genetic inheritance as the predominant causative agent. Reevaluation for a broader autistic phenotype that included communication and social disorders increased concordance remarkably from 60% to 92% in MZ twins and from 0% to 10% in DZ pairs. This suggests that interactions between multiple genes cause "idiopathic" autism but that epigenetic factors and exposure to environmental modifiers may contribute to variable expression of autism-related traits. The identity and number of genes involved remain unknown. The wide phenotypic variability of the ASDs likely reflects the interaction of multiple genes within an individual's genome and the existence of distinct genes and gene combinations among those affected. There are 3 main approaches to identifying genetic loci, chromosomal regions likely to contain relevant genes: 1) whole genome screens, searching for linkage of autism to shared genetic markers in populations of multiplex families (families with >1 affected family member; 2) cytogenetic studies that may guide molecular studies by pointing to relevant inherited or de novo chromosomal abnormalities in affected individuals and their families; and 3) evaluation of candidate genes known to affect brain development in these significantly linked regions or, alternatively, linkage of candidate genes selected a priori because of their presumptive contribution to the pathogenesis of autism. Data from whole-genome screens in multiplex families suggest interactions of at least 10 genes in the causation of autism. Thus far, a putative speech and language region at 7q31-q33 seems most strongly linked to autism, with linkages to multiple other loci under investigation. Cytogenetic abnormalities at the 15q11-q13 locus are fairly frequent in people with autism, and a "chromosome 15 phenotype" was described in individuals with chromosome 15 duplications. Among other candidate genes are the FOXP2, RAY1/ST7, IMMP2L, and RELN genes at 7q22-q33 and the GABA(A) receptor subunit and UBE3A genes on chromosome 15q11-q13. Variant alleles of the serotonin transporter gene (5-HTT) on 17q11-q12 are more frequent in individuals with autism than in nonautistic populations. In addition, animal models and linkage data from genome screens implicate the oxytocin receptor at 3p25-p26. Most pediatricians will have 1 or more children with this disorder in their practices. They must diagnose ASD expeditiously because early intervention increases its effectiveness. Children with dysmorphic features, congenital anomalies, mental retardation, or family members with developmental disorders are those most likely to benefit from extensive medical testing and genetic consultation. The yield of testing is much less in high-functioning children with a normal appearance and IQ and moderate social and language impairments. Genetic counseling justifies testing, but until autism genes are identified and their functions are understood, prenatal diagnosis will exist only for the rare cases ascribable to single-gene defects or overt chromosomal abnormalities. Parents who wish to have more children must be told of their increased statistical risk. It is crucial for pediatricians to try to involve families with multiple affected members in formal research projects, as family studies are key to unraveling the causes and pathogenesis of autism. Parents need to understand that they and their affected children are the only available sources for identifying and studying the elusive genes responsible for autism. Future clinically useful insights and potential medications depend on identifying these genes and elucidating the influences of their products on brain development and physiology.

Autistic Disorder↗

PubMed2003

Case-control family study of lesser variant traits in autism.

Family data were obtained from the relatives of 30 autistic patients, 30 patients with other pervasive developmental disorder and 30 healthy controls. Detailed interviewing was conducted to document any evidence of psychiatric illness of the family members of these probands. Anxiety disorders and obsessive-compulsive illness stood out as being closely associated with having autistic individuals in the family. The findings suggest that autism is a spectrum disorder that may be associated with anxiety and obsessive-compulsive illness. This type of association is consistent with a polygenic threshold effect for this group of conditions.

Adolescent↗

PubMed2004

[Sixty years of autism].

The concept of autism has been broadened the last few years from 'early infantile autism' to 'an autistic spectrum'. Autism and related contact disorders are grouped together under 'pervasive developmental disorders' or 'autistic spectrum disorders'. The autistic disorder, Asperger's syndrome, pervasive developmental disorder not otherwise specified (PDD-NOS), Rett's disorder and the childhood disintegrative disorder all belong to this group. People with an autistic spectrum disorder have severe difficulties in the integration of perceived stimuli into a meaningful entity. More than two-thirds of the people with the autistic disorder (classical autism) are also mentally retarded. Although autism can still only be diagnosed at the behavioural level, there is considerable consensus regarding an underlying organic aetiology. Autism is clearly a multifactorial condition. Autism cannot be cured, but adequate intervention can significantly improve the quality of life of people with this disorder. Diagnosis and intervention are highly interrelated. In the intervention, a distinction is made between family-oriented and child-oriented strategies. Augmentative communication plays a key role in the treatment. People with autism need a lot of structure, clarity and predictability, also when they have become adults.

Adolescent↗

PubMedDate not supplied

[Best practice guidelines for research in autistic spectrum disorders].

INTRODUCTION: Achieving a better knowledge of autism and other pervasive developmental disorders known as autistic spectrum disorders (ASD), poses a major scientific challenge. These disorders are some of the earliest and most severe psychopathological disorders in infancy; they include an heterogeneous group of conditions; its prevalence rate seems to be continually increasing and they generate a significant social impact. AIMS AND DEVELOPMENT: Nowadays, there is a current international agreement on the general requirements to be fulfilled by research projects and the priority areas to be considered when developing ASD high quality research. In Spain, although there are some established research groups with broad experience and expertise in these disorders, public funding opportunities and research development are still scarce. For this reason, the Study Group of the Instituto de Salud Carlos III has generated by consensus some Good Practice Guidelines for Research in ASD. CONCLUSIONS: After comparing priorities and recommendations from international reference documents with the results obtained after having carried out an exhaustive bibliographic revision of articles published in autism in the last 30 years by Spanish authors, methodological and ethical recommendations are established. Finally, structural deficiencies to be corrected and emerging research initiatives to be supported are identified.

Child Development Disorders, Pervasive↗

PubMed2004

Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports.

Duplication of part or the entirety of chromosome 15 that involves the Prader-Willi/Angelman syndrome critical region (PWACR) is a genetic disorder which is associated with variable degrees of intellectual impairment, motor co-ordination problems and social and communication disorders. Published case reports indicate that phenotypic expression is dependent on parental origin of the duplication and implicate maternally derived duplications in the pathogenesis of autistic features. This article describes three individuals, two males and one female, aged between 5 and 8 years, all with partial duplication of chromosome 15. Autism (or autistic spectrum disorder) was present in all three instances with varying degrees of cognitive impairment. The aim of this paper is to describe the phenotypic characteristics of this genetic sequence and the possible associations between social and behavioural patterns on the one hand, and degree and nature of genetic impairment on the other.

Autistic Disorder↗

PubMed2001

The Modified Checklist for Autism in Toddlers: an initial study investigating the early detection of autism and pervasive developmental disorders.

Autism, a severe disorder of development, is difficult to detect in very young children. However, children who receive early intervention have improved long-term prognoses. The Modified Checklist for Autism in Toddlers (M-CHAT), consisting of 23 yes/no items, was used to screen 1,293 children. Of the 58 children given a diagnostic/developmental evaluation, 39 were diagnosed with a disorder on the autism spectrum. Six items pertaining to social relatedness and communication were found to have the best discriminability between children diagnosed with and without autism/PDD. Cutoff scores were created for the best items and the total checklist. Results indicate that the M-CHAT is a promising instrument for the early detection of autism.

Autistic Disorder↗

PubMed2006

Catatonia in autistic spectrum disorders: a medical treatment algorithm.

Autism is a developmental syndrome with an unknown biology and inadequate therapeutics. Assessing the elements of the syndrome for the presence of depression, psychosis, mania, or catatonia, offers opportunities for systematic intervention. Since almost all descriptions of autism highlight the presence of motor symptoms that characterize catatonia, an assessment for this eminently treatable syndrome is recommended for all patients considered to be autistic. A minimum examination includes a catatonia rating scale and for those patients with defined catatonia, a lorazepam test. For those whose catatonia responds to lorazepam, high dose lorazepam therapy is recommended. If this fails, electroconvulsive therapy is recommended. The assessment and treatment of catatonia offers positive medical therapy for the victims of autism and their families.

Adolescent↗

PubMedDate not supplied

Assessment of pragmatic difficulties and socio-emotional adjustment in practice.

BACKGROUND: In professional practice, psychologists and other professionals such as therapists and teachers receive referrals of many children who present with social, emotional and behavioural difficulties that are difficult to understand and assess. The problems of some of these children may stem from pragmatic difficulties in communication. This paper reports the results of a study on the use of checklists in professional practice to assist in the identification of these difficulties. AIMS: (1) To ascertain whether two checklists, Bishop's (1998) Children's Communication Checklist and Goodman's (1997) Strengths and Difficulties Questionnaire, would discriminate between groups of children diagnosed as having autism, autistic spectrum disorder/Asperger's syndrome, pragmatic difficulties and children with other types of specific language impairment. (2) To investigate whether specific aspects of pragmatic difficulties can be identified as relating to difficulties in peer relationships. (3) To investigate whether ratings of pragmatic difficulties are related solely to difficulties in social relations or whether other aspects of socio-emotional adjustment are also affected. METHODS & PROCEDURES: The Children's Communication Checklist and the Strengths and Difficulties Questionnaire were completed by the teachers and other professionals working with a sample of children (n = 38) with a range of types of communication difficulty and being educated in schools run by one English Local Education Authority. OUTCOMES & RESULTS: Analyses of variance indicated that the scores for pragmatic competence and socio-emotional adjustment difficulties were useful in discriminating between groups of children with diagnoses of autism or autistic spectrum disorder, Asperger's syndrome, and other types of language impairment. No specific pragmatic correlates of social interactional difficulties were found, but ratings of hyperactivity were significantly correlated with pragmatic difficulties. CONCLUSIONS: The two checklists if used together provide useful information on the profiles of strengths and weaknesses of children with a range of communication and or emotional/behavioural difficulties. The use of both checklists in this study demonstrated the differential profiles of pragmatic competence and socio-emotional adjustment of children with different types of communication difficulty.

Affective Symptoms↗

PubMed2004

Annotation: The similarities and differences between autistic disorder and Asperger's disorder: a review of the empirical evidence.

BACKGROUND: The ongoing controversy over the distinction between autistic disorder and Asperger's disorder is important to resolve because of the implications regarding an understanding of the aetiology and prognosis, and the diagnostic and clinical practices relating to these conditions. This paper provides a critical evaluation of current published research evidence. METHOD: Databases, such as PsychINFO and Medline, as well as book chapters, reference lists from relevant articles, and recent editions of key journals were searched for all relevant studies (until 2002) which incorporated participants diagnosed with high-functioning autism and Asperger's disorder using either cluster analysis or comparative approaches to examine similarities and differences between these groups. Keywords used in the searches included autistic disorder, Asperger's disorder, autism, high-functioning autism, and pervasive developmental disorder. RESULTS: On the basis of the available evidence, there seem to be few qualitative differences between autistic disorder and Asperger's disorder. CONCLUSION: There is currently insufficient evidence to establish the validity of Asperger's disorder as a syndrome distinct from high-functioning autism. The findings are consistent with the view that these disorders belong on an autism spectrum.

Asperger Syndrome↗

PubMed1999

Appropriate investigations for clinical care versus research in children with autism.

As disorders on the autistic spectrum are behaviorally defined, there is no medical test to diagnose autism. The purpose of a medical evaluation is to detect particular etiologies, and manifestations like clinical or subclinical epilepsy or behavior problems that might mandate pharmacologic intervention. Defining a unique syndrome or genetic etiology may benefit other family members, although, currently, specific causes are detectable in only a small minority of individuals on the autistic spectrum. The paper lists elements of the history, examination, and laboratory testing most likely to be informative in clinical practice. Ordering large numbers of tests in the absence of a specific clinical indication is not recommended because it is invasive, wasteful and unlikely to generate useful data. This is not true, of course, in the context of a hypothesis-driven, approved research protocol where collecting standardized data and applying the most up-to-date research technologies is appropriate.

Autistic Disorder↗

PubMed2006

How many doctors does it take to make an autism spectrum diagnosis?

Parents of children with pervasive developmental disorders (n = 494) were surveyed to determine their level of satisfaction with the process of getting an autism spectrum diagnosis. Participants in this web-based study (mean age = 37.8 years) came from five countries and reported on children with an average age of 8.3 years (range = 1.7 to 22.1). All children had a diagnosis of either autism (59.9%), Asperger syndrome (23.5%), or PDD-NOS (16.6%). Higher levels of parental education and income were associated with earlier diagnosis and greater satisfaction with the diagnostic process. Parents were more satisfied with the diagnostic process when they saw fewer professionals to get the diagnosis and when the children received the diagnoses at younger ages.

Adolescent↗

PubMed2001

Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation.

There has been little exploration of major biologic regulators of cerebral development in autism. In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffinity chromatography to measure the neuropeptides substance P (SP), vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating polypeptide (PACAP), calcitonin gene-related peptide (CGRP), and the neurotrophins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin 3 (NT3), and neurotrophin 4/5 (NT4/5). Neonatal concentrations of VIP, CGRP, BDNF, and NT4/5 were higher (ANOVA, all p values < 0.0001 by Scheffe test for pairwise differences) in children in the autistic spectrum and in those with mental retardation without autism than in control children. In 99% of children with autism and 97% with mental retardation, levels of at least one of these substances exceeded those of all control children. Concentrations were similar in subgroups of the autistic spectrum (core syndrome with or without mental retardation, other autistic spectrum disorders with or without mental retardation) and in the presence or absence of a history of regression. Among children with mental retardation, concentrations did not differ by severity or known cause (n = 11, including 4 with Down syndrome). Concentrations of measured substances were similar in children with CP as compared with control subjects. SP, PACAP, NGF, and NT3 were not different by diagnostic group. No measured analyte distinguished children with autism from children with mental retardation alone. In autism and in a heterogeneous group of disorders of cognitive function, overexpression of certain neuropeptides and neurotrophins was observed in peripheral blood drawn in the first days of life.

Autistic Disorder↗

PubMed1994

A family history study of schizophrenia spectrum disorders suggests new candidate genes in schizophrenia and autism.

To limit genetic heterogeneity, this study focused on the widely extended pedigrees of Ashkenazi Jewish schizophrenic and autistic probands, to determine if similar causal mechanisms might obtain for both conditions. At least two previous epidemiological studies have demonstrated increased risk for schizophrenia in Ashkenazi Jews. The hypothesis posed is that increased prevalence of various rare autosomal recessive diseases among the Ashkenazim might contribute to the increased vulnerability to schizophrenia and to autism in this large genetic isolate. Rates of amyotrophic lateral sclerosis (ALS) and bleeding disorders were significantly increased among relatives of schizophrenic and autistic probands, compared to relatives of normal probands. These results suggest new candidate loci in schizophrenia and autism, particularly the chromosome 15q23-24 locus of the hexosaminidase A gene, causing various GM2 gangliosidoses, and the 21q22.1-q22.2 loci of the antioxidant, superoxide dismutase gene, and a cytokine receptor gene.

Adult↗

PubMedDate not supplied

Visual-auditory integration during speech imitation in autism.

Children with autistic spectrum disorder (ASD) may have poor audio-visual integration, possibly reflecting dysfunctional 'mirror neuron' systems which have been hypothesised to be at the core of the condition. In the present study, a computer program, utilizing speech synthesizer software and a 'virtual' head (Baldi), delivered speech stimuli for identification in auditory, visual or bimodal conditions. Children with ASD were poorer than controls at recognizing stimuli in the unimodal conditions, but once performance on this measure was controlled for, no group difference was found in the bimodal condition. A group of participants with ASD were also trained to develop their speech-reading ability. Training improved visual accuracy and this also improved the children's ability to utilize visual information in their processing of speech. Overall results were compared to predictions from mathematical models based on integration and non-integration, and were most consistent with the integration model. We conclude that, whilst they are less accurate in recognizing stimuli in the unimodal condition, children with ASD show normal integration of visual and auditory speech stimuli. Given that training in recognition of visual speech was effective, children with ASD may benefit from multi-modal approaches in imitative therapy and language training.

Adolescent↗

PubMed2005

A controlled study of formal thought disorder in children with autism and multiple complex developmental disorders.

UNLABELLED: Along with well-defined categories in classification systems (e.g., autistic disorders and attention-deficit/hyperactivity disorder (ADHD)), practitioners are confronted with many children showing mixed forms of developmental psychopathology. These clusters of symptoms are on the borderlines of more defined categories. The late Donald Cohen proposed heuristic criteria to study a group defined by impaired social sensitivity, impaired regulation of affect, and thinking disorders under the name multiple complex developmental disorders (MCDD). Although these children meet criteria for pervasive developmental disorder--not otherwise specified (PDD-NOS), they have additional important clinical features, such as thought disorder. After highlighting similarities and differences between MCDD and comparable groups (e.g., multidimensionally impaired children), this paper presents the findings of a study comparing formal thought disorder scores in children with MCDD to children with autism spectrum diagnoses, such as autistic disorder (AD), and to children with nonspectrum diagnoses, such as ADHD and anxiety disorders. METHODS: Videotaped speech samples of four groups of high-functioning, latency-aged children with MCDD, AD, ADHD, and anxiety disorders were compared to a control group of normal children using the Kiddie Formal Thought Disorder Rating Scale (K-FTDS). RESULTS: High formal thought disorder scores were found both in the AD and MCDD groups, low rates in the ADHD groups, and no thought disorder in the anxiety disorder and normal control groups. The severity of formal thought disorder was related to verbal IQ scores within the AD and MCDD groups. CONCLUSION: High formal thought scores in children with complex developmental disorders, such as AD and MCDD, appear to reflect impaired communication skills rather than early signs of psychosis.

Anxiety↗

PubMed2005

The potential importance of steroids in the treatment of autistic spectrum disorders and other disorders involving mercury toxicity.

Autism is a neurodevelopmental disorder that according to the Centers for Disease Control and Prevention (CDC) affects 1 in 150 children in the United States. Autism is characterized by impairments in social relatedness and communication, repetitive behaviors, abnormal movements, and sensory dysfunction. Recently emerging evidence suggests that mercury, especially from childhood vaccines, appears to be a factor in the development of the autistic disorders, and that autistic children have higher than normal body-burdens of mercury. In considering mercury toxicity, it has previously been shown that testosterone significantly potentates mercury toxicity, whereas estrogen is protective. Examination of autistic children has shown that the severity of autistic disorders correlates with the amount of testosterone present in the amniotic fluid, and an examination of a case-series of autistic children has shown that some have plasma testosterone levels that were significantly elevated in comparison neurotypical control children. A review of some of the current biomedical therapies for autistics, such as glutathione and cysteine, chelation, secretin, and growth hormone, suggests that they may in fact lower testosterone levels. We put forward the medical hypothesis that autistic disorders, in fact, represents a form of testosterone mercury toxicity, and based upon this observation, one can design novel treatments for autistics directed towards higher testosterone levels in autistic children. We suggest a series of experiments that need to be conducted in order to evaluate the exact mechanisms for mercury-testosterone toxicity, and various types of clinical manipulations that may be employed to control testosterone levels. It is hoped by devising therapies that address the steroid hormone pathways, in addition to the current treatments that successful lower heavy metal body-burdens of mercury, will work synergistically to improve clinical outcomes. In light of the fact that there are a number of other diseases that may have a chronic mercury toxicity component, such as Alzheimer's disease, heart disease, obesity, ALS, asthma, and other various forms of autoimmune disorders, it is imperative that further research should be conducted to understand mercury-testosterone toxicity.

Autistic Disorder↗