Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Recent studies of the prevalence of autism have suggested higher estimates than previously described. Various diagnostic criteria for autism and related disorders have been applied, with variability in case finding methodology and characteristics of populations as well. In this study, maternal and child health clinics covering 98% of the population were used for screening pervasive developmental disorders. Extensive medical investigation was carried out on the majority of cases. In this Norwegian population of children ages 3-14 years the minimum prevalence estimate for childhood autism was 4-5 per 10,000 using ICD-10 research criteria, and did not confirm the high estimates suggested more recently. Medical disorders identified were associated with mental retardation rather than specifically with autism.
J Autism Dev Disord 1998 Jun
PMID:Autism and related disorders: epidemiological findings in a Norwegian study using ICD-10 diagnostic criteria. 965 33

DSM-IV states that Asperger Disorder may be distinguished from Autistic Disorder by a lack of a delay in early language development. The aim of this study was to establish whether the presence or absence of early language delay would predict autistic symptomatology in children diagnosed with a PDD/autism spectrum disorder. Forty-six language-delayed and 62 normal language onset individuals (M age 11 years) were compared on ICD-10 research criteria and DSM-IV criteria, receptive language, and developmental history variables. Retrospective data were also obtained to determine whether language onset predicted autism symptomatology when young (< 6 years). We found that early language delay predicts more autistic symptomatology when young, but not at an older age. Early language delay is also associated with developmental motor milestone delays and lower receptive language abilities. The results question the use of early language delay as a valid discriminating variable between PDD subgroups.
J Autism Dev Disord 1998 Dec
PMID:Delayed language onset as a predictor of clinical symptoms in pervasive developmental disorders. 993 39

This study aimed to investigate the validity of disintegrative psychosis (DP) as defined in the ICD-9. The history of epilepsy in 13 subjects with DP was compared with that of 39 subjects with infantile autism (IA) who were matched for sex, age, IQ, and socioeconomic status (SES). The average follow-up time was 22 and 23 years (range 11 to 33 years). A significant difference was found between the DP and IA groups in terms of incidence of epilepsy, 77% versus 33% respectively. The peak period of onset of epilepsy occurred before puberty in both groups. Different types of epilepsy were seen, but the psychomotor variant accounted for 50% in the DP group, while 46% of the IA group had the psychomotor and 62% had the grand mal variant. The types are not mutually exclusive. Individuals without epilepsy had significantly higher IQ scores than those with epilepsy, but only within the IA group. The increased risk of developing epilepsy in the DP group is most likely a reflection of an underlying early brain pathology probably present in most individuals with DP. On the whole our findings can be seen as a contribution to the validation of DP as separate from IA, as these two conditions could be distinguished in terms of the way they develop with reference to epilepsy.
 ...
PMID:Epilepsy in disintegrative psychosis and infantile autism: a long-term validation study. 1007 96

This study aimed to explore the boundaries between PDD and related disorders and to develop classificatory algorithms for what is currently called Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS). Data collected by means of a standard coding system for the DSM-IV field trial for autistic disorder were used. Information on diagnostic criteria for autistic disorder as listed in ICD-10 and DSM-IV was compared between subjects functioning at least in the mildly retarded range and clinically classified as autistic disorder (n = 205), PDDNOS (n = 80) and other non-PDD disorders (n = 174). Only a limited number of items from the ICD-10 and DSM-IV systems for autistic disorder significantly discriminated the PDDNOS group from other disorders. A scoring rule based on a short set of 7 ICD-10/DSM-IV criteria with a cutoff of 3 items and 1 social interaction item set as mandatory had the best balance between high sensitivity and high specificity in discriminating PDDNOS from non-PDD disorders. These rules yielded a somewhat better prediction than most effective rules based on the full set of 12 criteria for autistic disorder with a cutoff of 4 items and 1 social item as mandatory. Generally accepted and well-validated criteria to identify individuals with PDDNOS should facilitate both research and clinical services.
J Autism Dev Disord 1999 Feb
PMID:Exploring the boundaries of pervasive developmental disorder not otherwise specified: analyses of data from the DSM-IV Autistic Disorder Field Trial. 1009 93

The aim of the study was to identify the comorbidity of autistic spectrum disorders in a population of children with Down syndrome (DS). All children with DS within a defined population of South Birmingham were identified. The Asperger Syndrome Screening Questionnaire and the Child Autism Rating Scale were completed and diagnosis made according to ICD-10 criteria following interview and observation. Thirty-three of 58 identified children completed the measures, four of whom received a diagnosis of an autistic spectrum disorder. This is equivalent to a minimum comorbid rate of 7%. The questionnaire items concerning social withdrawal, restricted or repetitive interests, clumsiness, and unusual eye contact were associated with an autistic disorder. Of the remaining 29 participating children, 11 also displayed marked obsessional and ritualistic behaviours. The comorbid occurrence of autism and DS is at least 7%. It is important that these children are identified and receive appropriate education and support. A full assessment of social, language, and communication skills and behaviour is crucial, particularly in children with DS who appear different from other children with DS. Potential mechanisms accounting for this comorbidity are discussed.
 ...
PMID:Comorbidity of autistic spectrum disorders in children with Down syndrome. 1021 Feb 47

In order to study the validity of disintegrative psychosis (DP) as defined in ICD-9, we compared the natural history of somatic morbidity of 13 patients given this diagnosis in childhood with a control group of 39 patients with infantile autism (IA) matched for gender, age, IQ and social class. Average follow-up time was 22 and 23 (11-33) years, respectively. Significantly more DP patients (85 versus 41%) had been admitted to a non-psychiatric hospital during the follow-up period. They also had significantly more admissions (3.6 versus 1.0) and stayed longer in hospital (78 versus 4 days) than patients with IA. Three of the DP individuals had an associated medical disorder and made extensive use of somatic services during the follow-up period. Altogether the DP group had utilised the medical health care system more than patients with IA suggesting that they had more medical symptoms than the IA group. On the whole our findings suggest that individuals with DP and IA should be conceptualised as essentially distinct and should be studied separately as regards aetiology, pathophysiology, course and treatment.
 ...
PMID:The natural history of somatic morbidity in disintegrative psychosis and infantile autism: a validation study. 1052 20

Childhood Disintegrative Disorder (CDD) is grouped with autism as a subtype of Pervasive Developmental Disorder (PDD) in ICD-10 and DSM-IV. This is the first report of autism and CDD cosegregating within a sibship. J. P. and M. P. are half-brothers with the same mother. J. P. is an 18-year-old with impairments in communication, social reciprocity, and stereotypies and was diagnosed with autism. M. P. is a 7-year-old who developed normally to 2 years 4 months. He then underwent a profound regression, becoming nonverbal and socially withdrawn, and lost adaptive skills. Investigations did not reveal any neurodegenerative process. M. P. was diagnosed with CDD. The rarity of the two conditions suggests a shared transmissible mechanism. The implications for autism/PDD genetic studies are discussed.
J Autism Dev Disord 2000 Apr
PMID:High functioning autism and Childhood Disintegrative Disorder in half brothers. 1083 84

We have ascertained and examined a patient with autistic disorder (AD) and monosomy X (Turner syndrome). The patient met Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)/International Classification of Diseases (ICD-10) criteria for AD verified by the Autism Diagnostic Interview-Revised. The patient exhibited both social and verbal deficits and manifested the classical physical features associated with monosomy X. Skuse et al. [1997: Nature 387:705-708] reported three such cases of AD and monosomy X in their study of Turner syndrome and social cognition. They observed that monosomy X females with a maternally inherited X chromosome had reduced social cognition when compared with monosomy X females with a paternally inherited X chromosome. All three cases of AD and monosomy X were maternally inherited. Based on their data, they suggested that there was a gene for social cognition on the X chromosome that is imprinted and not expressed when the X chromosome is of maternal origin. Thus, we conducted parent-of-origin studies in our AD/monosomy X patient by genotyping X chromosome markers in the patient and her family. We found that the patient's X chromosome was of maternal origin. These findings represent the fourth documented case of maternal inheritance of AD and monosomy X and provide further support for the hypothesis that parent-of-origin of the X chromosome influences social cognition.
 ...
PMID:Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome. 1089 7

We have identified three unrelated probands with autistic disorder (AD) and isodicentric chromosomes that encompass the proximal region of 15q11.2. All three probands met the Diagnostic and Statistical Manual of Mental Disorders, fourth edition [DSM-IV; American Psychiatric Association, 1994], and International Classification of Diseases ( ICD-10) diagnostic criteria for AD, confirmed with the Autism Diagnostic Interview -Revised (ADI-R). Chromosome analysis revealed the following karyotypes: 47,XX,+idic(15)(q11.2), 47,XX, +idic(15) (q11.2), and 47,XY,+idic(15)(q11.2). Haplotype analysis of genotypic maker data in the probands and their parents showed that marker chromosomes in all three instances were of maternal origin. Comparison of the clinical findings of the three AD probands with case reports in the published literature (N = 20) reveals a clustering of physical and developmental features. Specifically, these three probands and the majority of reported probands in the literature exhibited hypotonia (n = 13), seizures (n = 13), and delayed gross motor development (n = 13). In addition, clustering of the following clinical signs was seen with respect to exhibited speech delay (n = 13), lack of social reciprocity (n = 11), and stereotyped behaviors (n = 12). Collectively, these data provide further evidence for the involvement of chromosome 15 in AD as well as present preliminary data suggesting a clustering of clinical features in AD probands with proximal 15q anomalies.
 ...
PMID:Three probands with autistic disorder and isodicentric chromosome 15. 1089 16

Although disintegrative psychosis (DP) was first described in 1908, the validity of the syndrome has not yet been fully documented. To investigate the validity of DP as defined in ICD-9, 13 cases of DP were compared with 39 cases of infantile autism with reference to lifetime parental psychopathology, neuroradiological findings and genetic abnormalities. The groups were matched for gender, age, intellectual level and social class. Apart from a significantly higher rate of electroencephalogram abnormalities in the disintegrative group there was very little in the neurobiological background to support a clear distinction between DP and infantile autism.
 ...
PMID:A comparative study of genetic and neurobiological findings in disintegrative psychosis and infantile autism. 1099 61


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>