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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Little information is available regarding the yield of the medical evaluation of children diagnosed with pervasive developmental disorder-not otherwise specified (PDD-NOS) compared to children diagnosed with autistic disorder. Medical records were reviewed for 182 patients less than 18 years of age with either PDD-NOS or autistic disorder evaluated between 1994 and 1998 at Mayo Clinic. A condition likely to be etiologically relevant was identified in 6/117 (5.1%) patients diagnosed with PDD-NOS and 2/65 (3.1%) patients diagnosed with autistic disorder. Genetic disorders, both chromosomal and single-gene, were the most commonly identified conditions. Seizure disorders, electroencephalogram abnormalities, and anomalies on brain imaging were common in both groups. The likelihood of uncovering an etiologically relevant condition in children diagnosed with either PDD-NOS or autistic disorder may be equivalent. The scope of the etiological search in an individual patient with an autistic spectrum disorder should not be limited by the specific diagnostic category.
J Autism Dev Disord 2003 Apr
PMID:The yield of the medical evaluation of children with pervasive developmental disorders. 1275 58

The study examined developmental changes in autistic symptoms retrospectively in a sample of 28 verbal children and adolescents with autism. Individuals with Asperger syndrome, PDD-NOS, and related medical conditions were not included in the study. We compared autistic symptoms present at the retrospective assessment and during the 4- to 5-year age period using the ADI-R. Our findings revealed a significant improvement in the three domains relevant for the diagnosis of autism, independent of age or IQ level. Improvement occurred in more symptoms from the social than the communication domain, and for more symptoms from the latter than the restricted interest and repetitive behavior domains. The finding that improvement was not linked to level of functioning and was found in individuals still positive for a diagnosis of autism suggests that improvement belongs to the 'natural history' of the handicap.
Autism 2003 Sep
PMID:Developmental changes of autistic symptoms. 1451 59

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.
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PMID:The genetics of autism. 1512 91

The aim was to explore the comorbidity between Angelman syndrome and autism spectrum disorders (ASDs). Identification of autism in children with Angelman syndrome presents a diagnostic challenge. In the present study, 16 children with Angelman syndrome, all with a 15q11-13 deletion, were examined for ASDs. Thirteen children with Angelman syndrome received an ADOS-G algorithm classification of ASD; the remaining three were outside the autistic spectrum. Ten fulfilled the criteria for autism, and three for PDD-NOS. The 10 children with Angelman syndrome and comorbid autism were compared with eight children with only autism regarding their social and communicative skills. The results indicated that Angelman syndrome is better understood in terms of developmental delay, and autism in terms of developmental deviance. It is concluded that autism might have been overdiagnosed due to the extremely low mental age of the children with Angelman syndrome.
Autism 2004 Jun
PMID:Autism in Angelman syndrome: an exploration of comorbidity. 1516 32

Of a cohort of 104 children with Autism, PDD-NOS or specific language disorder, recruited at age 2-3 years of age, only three appeared to meet diagnostic assessment criteria for Asperger syndrome (AS). The children were followed up at 4-5 years, and assessments at both time points included the Autism Diagnostic Interview (ADI-R), the Autism Diagnostic Observation Schedule (ADOS) and the Mullen Scales of Early Learning. The paper explores the reasons why so few children with possible AS were identified early, including problems inherent in the assessment tools and the range of normal variation within characteristics required for a diagnosis. Only 10 children altogether had first words by 24 months, and abilities in the average range, and 9 were followed up. All of these able children had varied repetitive behaviours, and these increased in terms of ADI-R algorithm score over a 13 month interval. However, items concerning resistance to change and liking of routines tended to decrease in terms of reported impact on the child and family. Repetitive behaviours seem significant in the early referral of able children for a PDD diagnosis, but identification of children with AS is more likely to occur reliably once children are older and enter school.
J Autism Dev Disord 2005 Apr
PMID:Can a diagnosis of Asperger syndrome be made in very young children with suspected autism spectrum disorder? 1590 3

This study examined several questions pertaining to the Childhood Autism Rating Scale (CARS) in a sample of 274 preschool children (aged 2-6 years) clinically diagnosed as falling in one of five groups: Autistic Disorder, PDD-NOS, MR, Delayed, and Other. In addition to diagnosis and the CARS, all children were given standardized cognitive and adaptive behavior measures. Results indicated high concordance between the CARS and clinical diagnosis using DSM-IV (including excellent sensitivity and specificity). There was a moderate negative correlation of CARS scores and developmental level (both cognitive and adaptive), indicating significant shared variance. There were significant and sensible differences in mean CARS score for different diagnostic groups, including a substantial difference between the Autistic Disorder and PDD-NOS groups.
J Autism Dev Disord 2005 Oct
PMID:Multi-site study of the Childhood Autism Rating Scale (CARS) in five clinical groups of young children. 1617 10

Studies addressing etiologic yield in childhood developmental disabilities have mainly looked at individuals with developmental delay/mental retardation. The few studies addressing the question of etiologic yield in patients with pervasive developmental disorders (PDDs) had a major drawback, in that the enrolled subjects were diagnosed as having the autistic spectrum disorders based only on history and clinical examination, and/or on unspecified instruments. In addition, only some of these patients underwent a complete laboratory evaluation. To investigate the etiologic yield of PDDs, we undertook a large prospective study on subjects selected according to very strict criteria and diagnosed as having PDD based on the present "gold standard" (ADI-R and ADOS-G), and a clinical diagnosis made by a child psychiatrist. Eighty-five (85) patients with PDD and their first degree relatives participated in this study. These patients were selected from a sample of 236 subjects who had received a clinical diagnosis of PDD at the Stella Maris Institute between March 2002 and 2005. Selection criteria for entering the study were: (1) a diagnosis of PDD (with exclusion of the Rett syndrome) confirmed after the administration of the ADI-R (autism diagnostic interview-revised) and the ADOS-G (autism diagnostic observation schedule-generic). In addition, a clinical diagnosis was made by the child psychiatrist, on the basis of presence or absence of DSM-IV symptoms of autism; (2) chronological age between 4 and 18 years; (3) IQ>30; (4) availability of both biologic parents. Patients, 65/85 (76.5%), had autism, 18/85 (21.2%) had PDD-NOS, and the remaining 2/85 (2.3%) had Asperger syndrome. Ages varied between 4 years 2 months and 12 years 5 months (mean 7.6 years), and there was a marked male preponderance (68/85). All subjects underwent various laboratory studies and neuroimaging. With respect to possible etiologic determination, a detailed history and physical examination in this group of patients with PDD was informative in 10.5% (9/85). HRB karyotype was diagnostic in one, and molecular fragile X studies in one child. Brain MRI was informative in two children (2.3%) with relative macrocrania but no neurological features; and EEG was helpful in one child, identifying a Landau-Kleffner disorder. Audiometry and brainstem auditory evoked potentials (BAEPs) showed a bilateral sensorineural loss in another child. Metabolic evaluation gave normal results in all subjects. The results suggest an evaluation paradigm with reference to etiologic determination for individuals with PDDs that does not presently justify metabolic or neuroimaging on a screening basis. Recurrence risk, treatment implications, and significant and long-lasting emotional relief for the parents suggest that serious consideration be given to clinical genetic examination, genetic testing, EEG study (during wakefulness and sleep), and audiometry, despite a relatively low yield.
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PMID:Etiologic yield of autistic spectrum disorders: a prospective study. 1641 94

VIQ-PIQ differences have been studied in children with autism and Asperger syndrome but have not been studied in a separate group of children with PDD-NO, although, PDD-NOS has a much higher prevalence rate than autism and deficits in communication and social interaction are severe. The Wechsler Intelligence Scale for Children-Revised (WISC-R) was administered to 100 children, aged 6-12 years, with PDD-NOS (n = 76), autism (n = 13), and Asperger syndrome (n = 11). PDD-NOS was diagnosed using explicit research criteria. No overall differences between VIQ and PIQ were found in PDD-NOS and autism. Peaks in the subtest scores on Information, Similarities, Picture Arrangement, and Mazes, and troughs in the subtest scores on Comprehension, Digit Span, and Coding were demonstrated in children with PDD-NOS. Their score on the Freedom from Distractibility factor was lower than the scores on the Verbal Comprehension factor and the Perceptual Organization factor. Children with PDD-NOS seemed to have a similar VIQ-PIQ profile as children with autism, and on the subtest level children with PDD-NOS showed some similarities to children with Asperger syndrome or autism. It was not possible to distinguish PDD-NOS from autism or Asperger syndrome by using IQ scores.
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PMID:WISC-R subtest but no overall VIQ-PIQ difference in Dutch children with PDD-NOS. 1648 74

Many researchers have suggested that temperament information could be useful for understanding the behavioral variability within the autism spectrum. The purpose of this brief report is to examine temperament profiles of 110 children with ASD (ages 3-8 years, 61 with Autistic Disorder, 42 with PDD-NOS; and 7 with Asperger Disorder) via a commonly used parent report measure of child temperament. Internal consistency of temperament dimensions, test-retest reliability, descriptions of means and standard deviations are examined, relative to previously published norms. Internal consistency of the dimensions and test-retest reliability were comparable to published norms; however, children with autism were rated as presenting with more extreme scores than typically-developing children on several dimensions. Limitations and implications for future work are discussed.
J Autism Dev Disord 2006 Jul
PMID:Using Carey Temperament Scales to assess behavioral style in children with autism spectrum disorders. 1662 81

The purpose of the present study was to examine the developmental outcomes of children 7 years after their initial diagnosis. Children diagnosed with autism or PDD-NOS at age 2 received follow-up evaluations at age 9. Diagnostic stability was high, with 88 percent of the sample obtaining autism spectrum diagnoses at age 9. Cognitive scores improved considerably for a large segment of the sample, with over 50 percent obtaining scores in the average range at follow-up. Language outcomes were also positive at follow-up; 88 percent of the sample demonstrated at least some functional language, and 32 percent were able to engage in conversational exchanges. Early characteristics that predicted outcome status were: age of diagnosis, age 2 cognitive and language scores, and total hours of speech-language therapy between ages 2 and 3. These findings highlight the potential long-term benefits of both early identification and early intervention, and provide additional evidence for the importance of promoting public awareness of the early signs of autism.
Autism 2006 May
PMID:Follow-up of children with autism spectrum disorders from age 2 to age 9. 1668 97


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