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

The two most consistent features of the diseases caused by trinucleotide repeat expansion-neuropsychiatric symptoms and the phenomenon of genetic anticipation-may be present in forms of dementia, hereditary ataxia, Parkinsonism, bipolar affective disorder, schizophrenia and autism. To identify candidate genes for these disorders, we have screened human brain cDNA libraries for the presence of gene fragments containing polymorphic trinucleotide repeats. Here we report the cDNA cloning of CAGR1, originally detected in a retinal cDNA library. The 2743 bp cDNA contains a 1077 bp open reading frame encoding 359 amino acids. This amino acid sequence is homologous (56% amino acid identify and 81% amino acid conservation) to the Caenorhabditis elegans cell fate-determining protein mab-21. CAGR1 is expressed in several human tissues, most prominently in the cerebellum, as a message of approximately 3.0 kb. The gene was mapped to 13q13, just telomeric to D13S220. A 5'-untranslated CAG trinucleotide repeat is highly polymorphic, with repeat length ranging from six to 31 triplets and a heterozygosity of 87-88% in 684 chromosomes from several human populations. One allele from an individual with an atypical movement disorder and bipolar affective disorder type II contains 46 triplets, 15 triplets longer than any other allele detected. Though insufficient data are available to link the long repeat to this clinical phenotype, an expansion mutation of the CAGR1 repeat can be considered a candidate for the etiology of disorders with anticipation or developmental abnormalities, and particularly any such disorders linked to chromosome 13.
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PMID:cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat. 873 27

Headbanging is a rhythmic movement disorder (RMD) along with headrolling, bodyrocking and bodyrolling. The International Classification of Sleep Disorders defines RMD as a group of stereotyped, repetitive movements involving large muscles, usually of the head and neck, that typically occur immediately prior to sleep onset and are sustained into light sleep. The average onset is 9 months, and by 10 years of age the majority of subjects no longer complain of headbanging. If it continues, it is usually associated with mental retardation of autism. Headbanging is said to occur during presleep drowsiness or early non-rapid eye movement sleep. Often there is no need for treatment other than reassurance. Behavior modification has had little success. Benzodiazepines (such as oxazepam and diazepam) and tricyclic antidepressants have been used with variable success. We present two cases of headbanging with polysomnographic findings and treatment. The patients are two healthy adult males. They both experienced significant daytime somnolence and repeatedly wakened their partners. Only one of our patients had recorded head movements during his overnight sleep study. There was evidence of headbanging during stage 1 and stage 2 sleep but also during slow wave sleep. Headbanging was recorded during 14% of the epochs. Both patients responded to treatment with clonazepam (at a dose of 1.0 mg nightly) with decreased frequency and severity of headbanging. Although headbanging is most common in childhood, there may be significant number of cases that persist into adulthood. To our knowledge, this is the first report of the treatment of headbanging with clonazepam. Both patients benefited from this treatment.
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PMID:Adult headbanging: sleep studies and treatment. 940 33

Autistic disorder, an extremely disabling syndrome with onset in early childhood, is associated with multiple comorbid conditions. Although autistic disorder is heterogeneous in its manifestations, there is a subgroup of individuals with autistic disorder who display movements that appear to be unique for the disorders. Hand flapping and a variety of movements termed stereotypies may be pathognomonic of autistic disorder. Therefore, identification of a movement disorder characteristic of autistic disorder may imply that the individual has autistic disorder.
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PMID:Movements in autistic disorder. 1049 25

Asperger's syndrome is a condition in the autistic spectrum in which language development is normal. Patients with Asperger's syndrome frequently exhibit repetitive movements (stereotypies), and can have motor and phonic tics in addition to other behavioral abnormalities. We present 12 patients with autistic spectrum disorders who were referred to our Movement Disorders Clinic for evaluation of tics. Eight of the 12 had normal language development and therefore met criteria for Asperger's syndrome. All patients exhibited stereotypic movements; in addition, seven had tics and six of these met diagnostic criteria for Tourette syndrome. Of the six patients with clinical features of both Asperger's syndrome and Tourette syndrome, three had severe congenital sensory deficits. The autistic patients in our series were clinically heterogeneous and though tics were clearly present, other aberrant movements demonstrated by them were harder to classify. Our series confirms the wide range of clinical manifestations in Asperger's syndrome and autism, including tics and other features of Tourette syndrome. Furthermore, it suggests that sensory deprivation contributes to the development of adventitious movements in this population.
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PMID:Occurrence of tics in Asperger's syndrome and autistic disorder. 1086 83

Animal models provide unique opportunities to explore interactions between host and environment. Two models have been established based on Bornavirus infection that provide new insights into mechanisms by which neurotropic agents and/or immune factors may impact developing or mature CNS circuitry to effect complex disturbances in movement and behavior. Distinct losses in DA pathways in the adult infection model, and the associated dramatic movement disorder that accompanies it, make it an intriguing model for tardive dyskinesia and dystonic syndromes. The neuropathologic, physiologic, and neurobehavioral features of BDV infection of neonates indicate that it not only provides a useful model for exploring the mechanisms by which viral and immune factors may damage developing neurocircuitry, but also has significant links to the range of biologic, neurostructural, locomotor, cognitive, and social deficits observed in serious neuropsychiatric illnesses such as autism.
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PMID:Bornavirus tropism and targeted pathogenesis: virus-host interactions in a neurodevelopmental model. 1145 Mar 12

The Behavior Problems Inventory (BPI-01) is a 52-item respondent-based behavior rating instrument for self-injurious, stereotypic, and aggressive/destructive behavior in mental retardation and other developmental disabilities. Items are rated on a frequency scale and a severity scale. The BPI-01 was administered by interviewing direct care staff of 432 randomly selected residents from a developmental center between the ages of 14 to 91 years. For 73% of those selected, at least one problem was endorsed on the BPI-01. A total of 43% showed self-injury, 54% stereotyped behavior, and 38% aggressive/destructive behavior. Confirmatory factor analysis and item-total correlations supported the three a priori factors. Analyses of variance (ANOVA) showed that of the variables age, sex, and level of mental retardation, only the latter had a significant effect on the BPI-01 total score, the SIB subscale score, and the Stereotyped Behavior subscale score. Aggression/destruction was not significantly related to any of the three variables. Individuals with a diagnosis of pervasive developmental disorder had higher scores on all three subscales than those without, whereas residents with a diagnosis of stereotyped movement disorder had higher Stereotyped Behavior scale scores than those without. The BPI-01 was found to be a reliable (retest reliability, internal consistency, and between-interviewer-agreement) and valid (factor and criterion validity) behavior rating instrument for problem behaviors in mental retardation and developmental disabilities with a variety of potentially useful applications. Strengths and limitations of the instrument are discussed.
J Autism Dev Disord 2001 Dec
PMID:The Behavior Problems Inventory: an instrument for the assessment of self-injury, stereotyped behavior, and aggression/destruction in individuals with developmental disabilities. 1181 69

To report on the cognitive and behavioral attributes of 61 children with Down syndrome (DS) and autistic-spectrum disorder (ASD) according to DSM-IV criteria; to determine the utility of the aberrant behavior checklist (ABC) to characterize these subjects for research purposes; and to test the hypothesis that subjects with DS + ASD could be distinguished from their typical DS peers using the ABC. Cross-sectional design. Cases with DS + ASD (N = 61), comparison group of DS + stereotypy movement disorder (SMD) (N = 26) and typical DS controls without behavior problems (N = 44) were ascertained and enrolled sequentially upon presentation to a DS clinic at an academic medical center over a 10-year period from 1991 to 2001. All subjects underwent neurodevelopmental and medical evaluation, and standardized cognitive testing. The parents provided responses to standardized behavioral questionnaires. Cognitive function (IQ) differed markedly across the three groups. The Lethary and Stereotypy subscales of the ABC were highly significant (P < 0.001) in distinguishing the three groups from one another. Within the ASD group differences were apparent by DSM-IV type on the Lethargy subscale, which reached significance, ANOVA (F = 0.002) and t-test (Autism > PDD, P = 0.005; PDD < CDD, P = 0.002). Using a multivariate regression model, the ABC scales alone explained 62% of variance of ASD outcome; addition of demographic variables explained up to 68% of the variance. There is good correlation between DSM-IV criteria for autism and subscales scores on the ABC in subjects with DS. This study demonstrates the feasibility of using the ABC to characterize the neurobehavioral phenotype of a cohort of children with trisomy 21 and ASD for ongoing research purposes.
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PMID:Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist. 1575 62

The present study extends our previous work characterizing the behavioral features of autistic-spectrum disorder (ASD) in Down syndrome (DS) using the Aberrant Behavior Checklist (ABC) and Autism Behavior Checklist (AutBehav). We examined which specific behaviors distinguished the behavioral phenotype of DS + ASD from other aberrant behavior disorders in DS, by determining the relative contribution of ABC and AutBehav subscales and items to the diagnosis of ASD. A total of 127 subjects (aged 2-24 years; mean age: 8.4 years; approximately 70% male), comprising: a cohort of 64 children and adolescents with DS and co-morbid ASD (DS + ASD), 19 with DS and stereotypic movement disorder (DS + SMD), 18 with DS and disruptive behaviors (DS + DB), and 26 with DS and no co-morbid behavior disorders (DS + none) were examined using the aforementioned measures of aberrant behavior. We found that subjects with DS + ASD showed the most severe aberrant behavior, especially stereotypy compared to DS + none and lethargy/social withdrawal and relating problems compared to DS + SMD. Specifically, relatively simple stereotypic behavior differentiated DS + ASD from DS + DB, whereas odd/bizarre stereotypic and anxious behavior characterized DS + ASD relative to DS + SMD and DS + none. Additionally, in a subset of subjects with DS + ASD and anxiety, social withdrawal was particularly pronounced. Overall, our findings indicate that a diagnosis of DS + ASD represents a distinctive set of aberrant behaviors marked by characteristic odd/bizarre stereotypic behavior, anxiety, and social withdrawal.
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PMID:Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities. 1695 28

In the International Classification of Sleep Disorders 2nd Edition (ICSD-2), sleep related rhythmic movement disorder (RMD) is classified as a disorder characterized by rhythmic movements of large muscle groups in different parts of the body. These are repetitive, stereotyped, rhythmic motor behaviors that occur predominantly during drowsiness or sleep,and are typically seen in infants and children. Episodes often occur at sleep onset, at any time during the night, and during quiet wakeful activities at a frequency of 0.5-2 sec), lasting <15 min. The prevalence is high in infants (59%), dropping to 5% at the age of 5 years. When persisting to older childhood or beyond, association with mental retardation, autism, or other significant pathology is reported. Few cases in adults of normal intelligence have been reported in the literature. There is a strong association with attention deficit hyperactivity disorder, suggesting a similar pathogenetic mechanism. There is also one adult case report occurring during strictly REM sleep. Mayer et al reported 24 subjects with RMD that persisted into adolescence and adulthood. Twenty of the subjects were adults, and 16 of them had the condition since childhood. Of these 20, 16 had no other sleep disorders (but 2 had a family history of RMD), and 4 had obstructive sleep apnea. This was the first ever report of familial RMD.
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PMID:A multigenerational family with persistent sleep related rhythmic movement disorder (RMD) and insomnia. 2046 26

The Congress of the International Pediatric Sleep Association joint meeting with Pediatric Sleep Medicine Conference was held in Rome on December 3-5, 2010. It was chaired by the president of IPSA, prof. O. Bruni. About 400 participants taking part in 20 sessions could listen to lectures delivered by the most prominent specialists in pediatric sleep medicine. The presented issues related to sleep development, sleep-disordered breathing, abnormal behaviors and movements during sleep (restless legs syndrome, periodic limb movement disorder, bruxism), epilepsy, narcolepsy, insomnia, infant apnea, arousals and SIDS, sleep problems in children with other diseases (cancer, autism, ADHD, obesity), pharmacological treatment of pediatric sleep disorders, sleep habits, sleep education programs for children and families. This paper reports on the latest findings in the field of sleep medicine presented at the Congress. Particular attention was paid to practical issues in daily clinical work.
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PMID:[The current state of knowledge of pediatric sleep medicine. Report from the Congress of the International Pediatric Sleep Association (IPSA) joint meeting with Pediatric Sleep Medicine Conference (Rome, 2010)]. 2154 92


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