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

The purpose of the study was to count and characterize the range of stereotypies--repetitive rhythmical, apparently purposeless movements--in developmentally impaired children with and without autism, and to determine whether some types are more prevalent and diagnostically useful in children with autism. We described each motor stereotypy recorded during 15 minutes of archived videos of standardized play sessions in 277 children (209 males, 68 females; mean age 4y 6mo [SD 1y 5mo], range 2y 11mo-8y 1mo), 129 with autistic disorder (DSM-III-R), and 148 cognitively-matched non-autistic developmentally disordered (NADD) comparison children divided into developmental language disorder and non-autism, low IQ (NALIQ) sub-groups. The parts of the body involved and characteristics of all stereotypies were scored blind to diagnosis. More children with autism had stereotypies than the NADD comparison children. Autism and, to a lesser degree, nonverbal IQ (NVIQ) <80, especially in females contributed independently to the occurrence, number, and variety of stereotypies, with non-autistic children without cognitive impairment having the least number of stereotypies and children with autism and low NVIQ the most. Autism contributed independently to gait and hand/finger stereotypies and NVIQ <80 to head/trunk stereotypies. Atypical gazing at fingers and objects was rare but virtually limited to autism. Stereotypies are environmentally modulated movement disorders, some highly suggestive, but not pathognomonic, of autism. Their underlying brain basis and genetic correlates need investigation.
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PMID:Motor stereotypies in children with autism and other developmental disorders. 1908 97

We argue for the utility of a functional definition of stereotypy based on evidence of both sensory automatic and socially mediated reinforcement contingencies in the occurrence of stereotypy in children with autism. A predetermined sensory function of stereotypy is often invoked in the behavioral literature and the term "self-stimulatory behavior" is commonly misused as interchangeable with "stereotypy." We discuss evidence for a variety of potential functional properties of stereotypy. Diagnostic definitions are reviewed and support for both sensory and social functions is outlined. We argue that stereotypies should be described and categorized according to their function, rather than form. Furthermore, treatment decisions should be based on a functional interpretation of stereotypy, which acknowledges its operant and heterogeneous quality in autism.
Res Autism Spectr Disord 2008
PMID:Stereotypy in Autism: The Importance of Function. 1912 56

The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye opening, and abnormal facial expressions are early signs proving that this variant of the Rett complex, too, manifests itself within the first months of life.
J Autism Dev Disord 2009 Jun
PMID:Case report: Retracing atypical development: a preserved speech variant of Rett syndrome. 1922 52

Research regarding the behavioral aspects of children with Rubinstein-Taybi syndrome (RTS) has suggested some possible behavioral patterns including autistic features. Caregivers of 39 children (mean age = 8.4 years) with RTS (49% showing abnormality in CREBBP gene) and 39 children (mean age = 8.6 years) matched on developmental level, age and gender were administered the Child Behavior Checklist and the Children's Social Behavior Questionnaire. Children with RTS did not exhibit higher internalizing (affective and anxiety symptoms) or externalizing (disruptive symptoms) behavioral problems than expected for their age/developmental range. However, they displayed some specific behaviors: short attention span, motor stereotypies, poor coordination, and overweight. The presence of an identified CREBBP gene abnormality was possibly related to the motor difficulties through impaired motor skills learning.
J Autism Dev Disord 2009 Sep
PMID:Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. 1935 Mar 77

Although most research on autistic behavior has considered autism categorically, the increasingly apparent genetic and phenotypic complexities of autism are prompting a more dimensional approach to this area. The long-standing interest in a less categorical approach is made clear from a review of literature. The accumulating empirical support for viewing autism-related phenomena as separable and fractionable is outlined and includes data indicating that many of the behaviors occur in isolation in family members and the general population, are not highly correlated within individuals, and appear to be inherited separately. However, it is emphasized that some of the most common and characteristic phenomena observed in individuals diagnosed with autism do not run in their families. It is suggested that these novel, "emergent," phenomena may arise in the individual from interacting configurations of co-occurring traits or from the interaction of genetic and biological factors underlying the traits. A number of autism-related phenomena including intellectual disability, seizures, persistence of primitive reflexes, stereotypies, self-injurious behavior, savant abilities, and morphological abnormalities, among others, are discussed as potentially being emergent. It is concluded that consideration of the role of emergence in autistic behavior and related phenomena should complement a reductionist approach and might help illuminate the components and complexities of autism.
Autism Res 2008 Feb
PMID:The potential role for emergence in autism. 1936 Jun 47

Neuronal glucose transporter (GLUT) isoform 3 deficiency in null heterozygous mice led to abnormal spatial learning and working memory but normal acquisition and retrieval during contextual conditioning, abnormal cognitive flexibility with intact gross motor ability, electroencephalographic seizures, perturbed social behavior with reduced vocalization and stereotypies at low frequency. This phenotypic expression is unique as it combines the neurobehavioral with the epileptiform characteristics of autism spectrum disorders. This clinical presentation occurred despite metabolic adaptations consisting of an increase in microvascular/glial GLUT1, neuronal GLUT8 and monocarboxylate transporter isoform 2 concentrations, with minimal to no change in brain glucose uptake but an increase in lactate uptake. Neuron-specific glucose deficiency has a negative impact on neurodevelopment interfering with functional competence. This is the first description of GLUT3 deficiency that forms a possible novel genetic mechanism for pervasive developmental disorders, such as the neuropsychiatric autism spectrum disorders, requiring further investigation in humans.
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PMID:Neuronal glucose transporter isoform 3 deficient mice demonstrate features of autism spectrum disorders. 1950 59

Mouse lines with behavioral phenotypes relevant to symptoms in neurodevelopmental disorders may provide models to test hypotheses about disease etiology and to evaluate potential treatments. The present studies were designed to confirm and expand earlier work on the intriguing behavioral profile of the C58/J inbred strain, including low social approach and aberrant repetitive movements. Additional tests were selected to reflect aspects of autism, a severe neurodevelopmental disorder characterized by emergence of symptoms early in life, higher prevalence in males, social deficits and abnormal repetitive behavior. Mice from the C57BL/6J inbred strain, which has a similar genetic lineage and physical appearance to C58/J, served as a comparison group. Our results revealed that C58/J mice display elevated activity levels by postnatal day 6, which persist into adulthood. Despite normal olfactory ability, young adult male C58/J mice showed deficits in social approach in the three-chambered choice assay and failed to demonstrate social transmission of food preference. In contrast, female C58/J mice performed similarly to female C57BL/6J mice in both social tests. C58/J mice of both sexes demonstrated abnormal repetitive behaviors, displaying excessive jumping and back flipping in both social and non-social situations. These stereotypies were clearly evident in C58/J pups by postnatal days 20-21, and were also observed in C58/J dams during a test for maternal behavior. Overall, the strain profile for C58/J, including spontaneously developing motor stereotypies emerging early in the developmental trajectory, and social deficits primarily in males, models multiple components of the autism phenotype.
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PMID:Social deficits, stereotypy and early emergence of repetitive behavior in the C58/J inbred mouse strain. 1994 8

Methyl CpG binding protein-2 (MeCP2) is an essential epigenetic regulator in human brain development. Rett syndrome, the primary disorder caused by mutations in the X-linked MECP2 gene, is characterized by a period of cognitive decline and development of hand stereotypies and seizures following an apparently normal early infancy. In addition, MECP2 mutations and duplications are observed in a spectrum of neurodevelopmental disorders, including severe neonatal encephalopathy, X-linked mental retardation, and autism, implicating MeCP2 as an essential regulator of postnatal brain development. In this review, we compare the mutation types and inheritance patterns of the human disorders associated with MECP2. In addition, we summarize the current understanding of MeCP2 as a central epigenetic regulator of activity-dependent synaptic maturation. As MeCP2 occupies a central role in the pathogenesis of multiple neurodevelopmental disorders, continued investigation into MeCP2 function and regulatory pathways may show promise for developing broad-spectrum therapies.
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PMID:The role of MeCP2 in brain development and neurodevelopmental disorders. 2042 98

Autism is a complex neurodevelopmental disorder, likely encompassing multiple pathogenetic components. The aim of this study is to begin identifying at least some of these components and to assess their association with biological endophenotypes. To address this issue, we recruited 245 Italian patients with idiopathic autism spectrum disorders and their first-degree relatives. Using a stepwise approach, patient and family history variables were analyzed using principal component analysis ("exploratory phase"), followed by intra- and inter-component cross-correlation analyses ("follow-up phase"), and by testing for association between each component and biological endophenotypes, namely head circumference, serotonin blood levels, and global urinary peptide excretion rates ("biological correlation phase"). Four independent components were identified, namely "circadian & sensory dysfunction," "immune dysfunction," "neurodevelopmental delay," and "stereotypic behavior," together representing 74.5% of phenotypic variance in our sample. Marker variables in the latter three components are positively associated with macrocephaly, global peptiduria, and serotonin blood levels, respectively. These four components point toward at least four processes associated with autism, namely (I) a disruption of the circadian cycle associated with behavioral and sensory abnormalities, (II) dysreactive immune processes, surprisingly linked both to prenatal obstetric complications and to excessive postnatal body growth rates, (III) a generalized developmental delay, and (IV) an abnormal neural circuitry underlying stereotypies and early social behaviors.
Autism Res 2010 Oct
PMID:Principal pathogenetic components and biological endophenotypes in autism spectrum disorders. 2087 20

Risperidone is widely used in children with autism spectrum disorders for behavioral modification. In this study, the authors aimed to (1) describe a clinic-referred sample of patients with an autism spectrum disorder on risperidone, (2) identify differences between the success and nonsuccess groups, and (3) describe our experience with young children (< age 5 years) on risperidone. Eighty patients were initiated on risperidone. Indications included aggression (66%), impulsivity (14%), and stereotypies (4%). Sixty-six percent met criteria for success at 6 months and 53% at 1 year. Sixty-seven percent of the nonsuccess group reported side effects, compared to 47% of the success group. Weight gain was the most common side effect in both groups, followed by somnolence. Somnolence was the most robust predictor of nonsuccess. In our clinic-referred sample, the short-term success rate of risperidone was more than 50%, and side effects limited its use. Although weight gain was common, somnolence more significantly influenced treatment discontinuation.
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PMID:Risperidone use in autism spectrum disorders: a retrospective review of a clinic-referred patient population. 2092 7


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