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)

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

Eighteen preschool children diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders Third Edition Revised (DSM III-R) as having Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) were compared to 176 children with DSM III-R Autistic Disorder (AD), and to 311 non-autistic children with developmental language disorders (DLD) (N = 201) or low IQ (N = 110). All children were partitioned into "high" and "low" cognitive subgroups at a nonverbal IQ of 80. Within cognitive subgroups, the 18 PDD-NOS children did not differ significantly from either the DLD or the AD children in verbal and adaptive skills and obtained scores intermediate between those of these groups. The PDD-NOS did not differ from the AD children in maladaptive behaviors. Both the PDD-NOS and AD children had many more of these behaviors than the non-autistic comparison groups. Children in the "high" and "low" cognitive subgroups of AD, but not of PDD-NOS, differed substantially on most measures, with the children with lower cognitive scores significantly more impaired on all measures. Similarity of PDD-NOS children to AD children in maladaptive behaviors and an intermediate position between autistic and non-autistic groups on virtually all measures explains the difficulty clinicians encounter in classifying children with PDD and raises questions about the specificity of these diagnostic subtypes of the autistic spectrum.
 ...
PMID:Autistic disorder versus other pervasive developmental disorders in young children: same or different? 1131 38

Autism is a developmental disease affecting as many as 1 in 300 children and is often characterized as a mental disorder originating in infancy that is associated with self-absorption, inability to interact socially, behavior, and language dysfunction (e.g. echolalia). Current theories indicate an important role of diet in the development of disease. It is thought that, as a result of maldigestion of casein and gluten, opioid-type peptides, or exorphins, are produced. Additionally, because of the time-frame of development of the disease, there has been an association with childhood vaccination. Consequently, prevailing therapies attempt to address these causes in one, or a combination, of three ways: diet restriction (removing casein and gluten); supplementation with exogenous enzymes; and probiotic bacteria. Until recently, none of the therapies addressed the molecular mechanisms that may be at work in the development and progression of autism. This paper presents potential molecular and cellular mechanism related to autism as well as discusses their application to the treatment of the disease through the application of genomeceuticals. Additionally, a link between developmentally associated aberrant immune and inflammatory responses, and autism is suggested and explored.
 ...
PMID:Application of genomeceuticals to the molecular and immunological aspects of autism. 1146 Nov 71

Autism is a behaviorally defined disorder that comprises a controversial diagnostic category due to heterogeneity in symptomatology, causation, and etiology and significant variance in response to intervention. In this article, the authors provide a brief overview of the clinical category and a summary of diagnostic developments with respect to the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders. Regarding causation and etiology, they briefly discuss selected perspectives from the fields of cognitive neuroscience and neuropsychology. The article concludes with a summary of effective behavioral strategies for the treatment of children with autism. This section highlights the importance of early intensive behavioral intervention and includes a discussion of some important aspects of this approach.
 ...
PMID:A selective overview of issues on classification, causation, and early intensive behavioral intervention for autism. 1157 35

Children with specific developmental disorders of speech and language have an increased rate of psychiatric disorder compared to children developing normally. Children with early infantile autism show psychopathological symptoms in addition to those that are required for the diagnosis. These are often important in daily dealings with the children. As part of a larger study 4 groups of school age children (21 with normal development, 18 with an expressive language disorder, 21 with a receptive language disorder and 11 children with early infantile autism) were rated according to the psychopathological documentation for children (AMDP) within the assessment situation and according to reports of the behaviour outside. Several items were added to include symptoms that are not rated in the present documentation. Significant differences in the means were found between the group of children with autism and the control group. The children with language disorder showed a high variance which was interpreted as a sign for a heterogeneous group. Several of the added items improve the documentation of psychopathological findings in young school children.
 ...
PMID:[Behavioral problems in children with specific and pervasive developmental disorders, evaluated with the psychopathology assessment scale (AMDP)]. 1172 13

The present review looks at: (1) prevalence studies of sensory impairments in people with intellectual disability (ID); (2) studies looking at psychological and psychiatric disorders in people with sensory impairments; and (3) studies that have examined the association of sensory impairments with autism. Research has indicated that sensory impairments are more common in people with ID. Psychiatric disorders are believed to be more common in children with visual impairment (VI) when associated with other handicaps. Some authors believe that hearing impairment (HI) can result in personality disorders. Studies have also shown a higher prevalence of psychiatric disorders in children with HI and a higher incidence of deaf people in psychiatric hospitals than in the general population. Psychiatric disorders in children with HI are particularly associated with low IQ and low communication ability, especially in those with multiple handicaps. There is little evidence for a higher incidence of schizophrenia in people with HI. Blind people demonstrate many autistic-like features and there has been discussion in the literature as to their cause. Deaf people also demonstrate some similar features to those in autism, but an association with autism has not been conclusively made. Deaf-blind people commonly demonstrate problem behaviour (e.g. self-injury). Usher syndrome, which is the most common cause of deaf-blindness, is associated with psychiatric disorders, particularly psychosis. The need for assessment of sensory functioning in people with ID, the difficulties inherent in this and the need for specialist services is stressed.
 ...
PMID:Sensory impairments, intellectual disability and psychiatry. 1173 34

Psychiatric disorders like schizophrenia or autism are thought to result from disruption of the normal pattern of brain development. Abnormalities in the amygdaloid complex and hippocampus have been reported in these disorders. In the present study rats were lesioned in the amygdala or ventral hippocampus on day 7 of life (immature brain) or day 21 of life (almost mature brain) and open field behaviour was determined later in life before and after puberty. Lesioning on day 7 resulted in behavioural changes, interpreted as locomotor stereotypy and decreased anxiety in case of amygdala or hippocampus, respectively. These effects were more profoundly present after puberty. Lesioning on day 21 did not result in these behavioural changes, which subscribes to the importance of the stage of brain maturation on functional development. The results suggest that the behavioural changes in rats lesioned on day 7 may due to a malfunctioning of structures connected to the amygdala or ventral hippocampus. Brain lesions made on day 7 of life may serve as a potential model of psychopathological neurodevelopmental disorders.
 ...
PMID:Amygdala or ventral hippocampal lesions at two early stages of life differentially affect open field behaviour later in life; an animal model of neurodevelopmental psychopathological disorders. 1184 73

Nurses in a variety of settings encounter children with the unfamiliar diagnosis of Asperger syndrome (AS). This disorder, which falls clinically along the autism spectrum, is receiving increasing attention because of its inclusion in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) as one of the pervasive developmental disorders. The characteristic features of AS include deficits in social skills, atypical understanding of and use of pragmatic language, behavior problems, and a restricted set of interests. Cognitive abilities vary, and some children with AS have high intelligence. In addition, many children with AS have other conditions, such as attention deficit hyperactivity disorder, Tourette's syndrome, obsessive-compulsive disorder, and depression. The disorder can result in significant functional difficulties in the home, school, and community contexts. A case study highlights the features of AS, and a related individualized school health care plan demonstrates the school nurse's role in family and staff education, monitoring for comorbidities, behavioral management, medication management, support to family members, and referral.
 ...
PMID:Understanding and caring for the child with Asperger syndrome. 1188 20

Hyperserotonemia in autism is one of the longest-standing biochemical findings in a psychiatric disorder. This well-replicated finding and subsequent studies of platelet serotonin receptors in autism indicate that the serotonin 2A receptor gene (HTR2A) on chromosome 13q is a primary candidate gene in autism. Converging data from recent genome screens also implicates the genomic region containing HTR2A. Based on these lines of evidence, the transmission/disequilibrium test (TDT) was used to assess transmission disequilibrium between autism and haplotypes of three polymorphisms, including the promoter -1438 G/A single nucleotide polymorphism (SNP) in perfect linkage disequilibrium with the 102 T/C SNP in previous studies, a newly identified SNP in intron 1 near exon 2, and the SNP responsible for the His452Tyr amino acid change in exon 3. Because expression studies have shown HTR2A to be polymorphically imprinted in the brain, secondary analyses were split into maternal and paternal transmissions. No evidence was found for unequal transmission of haplotypes; however, power analysis reveals low power to detect a parent-of-origin effect in this sample size.
 ...
PMID:Transmission disequilibrium studies of the serotonin 5-HT2A receptor gene (HTR2A) in autism. 1192 Aug 48


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