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

In individuals with autism or autism-spectrum-disorder (ASD), conflicting results have been reported regarding the processing of biological motion tasks. As biological motion perception and recognition might be related to impaired imitation, gross motor skills and autism specific psychopathology in individuals with ASD, we performed a functional MRI study on biological motion perception in a sample of 15 adolescent and young adult individuals with ASD and typically developing, age, sex and IQ matched controls. Neuronal activation during biological motion perception was compared between groups, and correlation patterns of imitation, gross motor and behavioral measures with neuronal activation were explored. Differences in local gray matter volume between groups as well as correlation patterns of psychopathological measures with gray matter volume were additionally compared. On the behavioral level, recognition of biological motion was assessed by a reaction time (RT) task. Groups differed strongly with regard to neuronal activation and RT, and differential correlation patterns with behavioral as well as with imitation and gross motor abilities were elicited across and within groups. However, contrasting with the initial hypothesis, additional differences between groups were observed during perception and recognition of spatially moving point lights in general irrespective of biological motion. Results either point towards difficulties in higher-order motion perception or in the integration of complex motion information in the association cortex. This interpretation is supported by differences in gray matter volume as well as correlation with repetitive behavior bilaterally in the parietal cortex and the right medial temporal cortex. The specific correlation of neuronal activation during biological motion perception with hand-finger imitation, dynamic balance and diadochokinesis abilities emphasizes the possible relevance of difficulties in biological motion perception or impaired self-other matching for action imitation and gross motor difficulties in individuals with ASD.
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PMID:Perception of biological motion in autism spectrum disorders. 1826 8

Autism has been associated with enhanced local processing on visual tasks. Originally, this was based on findings that individuals with autism exhibited peak performance on the block design test (BDT) from the Wechsler Intelligence Scales. In autism, the neurofunctional correlates of local bias on this test have not yet been established, although there is evidence of alterations in the early visual cortex. Functional MRI was used to analyze hemodynamic responses in the striate and extrastriate visual cortex during BDT performance and a color counting control task in subjects with autism compared to healthy controls. In autism, BDT processing was accompanied by low blood oxygenation level-dependent signal changes in the right ventral quadrant of V2. Findings indicate that, in autism, locally oriented processing of the BDT is associated with altered responses of angle and grating-selective neurons, that contribute to shape representation, figure-ground, and gestalt organization. The findings favor a low-level explanation of BDT performance in autism.
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PMID:An fMRI-study of locally oriented perception in autism: altered early visual processing of the block design test. 1830 59

Monoamine oxidase A (MAOA) is an enzyme expressed in the brain that metabolizes dopamine, norepinephrine, epinephrine, and serotonin. Abnormalities of serotonin neurotransmission have long been implicated in the psychopathology of autism. A polymorphism exists within the promoter region of the MAOA gene that influences MAOA expression levels so that "low activity" alleles are associated with increased neurotransmitter levels in the brain. Individuals with autism often exhibit elevated serotonin levels. Additional studies indicate that the "low activity" allele may be associated with lower IQ and more severe autistic symptoms. In this study we genotyped the MAOA promoter polymorphism in a group of 29 males (age 2-3 years) with autism and a group of 39 healthy pediatric controls for whom brain MRI data was available. We found a consistent association between the "low activity" allele and larger brain volumes for regions of the cortex in children with autism but not in controls. We did not find evidence for over-transmission of the "low activity" allele in a separate sample of 114 affected sib pair families. Nor did we find any unknown SNPs in yet another sample of 96 probands. Future studies will determine if there is a more severe clinical phenotype associated with both the "low activity" genotype and the larger brain volumes in our sample.
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PMID:Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene. 1836 46

Recent evidence supports increased cortical activity and impaired brain connectivity in autism, but the structural correlates of these abnormalities are not yet defined. We performed a voxel based morphometry analysis of brain MRI from patients with autism selected from a group of 103 subjects with pervasive developmental disorders. Twelve male patients with mean age of 12.4 +/- 4 years were compared with 16 matched controls. Patients with autism exhibited increase in gray matter in medial and dorsolateral frontal areas, in the lateral and medial parts of the temporal lobes, in the parietal lobes, cerebellum and claustrum. Patients also showed decrease in frontal, parietal, temporal and occipital white matter. The combination of enlarged cortex and reduced white matter is possibly the structural basis of some symptoms of classic autism.
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PMID:Gray and white matter imbalance--typical structural abnormality underlying classic autism? 1836 56

A detailed morphometric analysis of the cerebellum in autism with and without macrocephaly. Four subject groups (N = 65; male; IQs > or = 65; age 7 to 26 years) were studied with quantitative MRI; normocephalic and macrocephalic individuals with autism without mental retardation were compared to normocephalic and benign macrocephalic typically developing individuals. Total cerebellum volumes and surface areas of four lobular midsagittal groups were measured. Independent t-tests between autism and control subjects matched for head size revealed no significant differences. Multivariate analyses of variance were also performed, using the diagnostic group as the fixed factor, cerebellar measures as the dependent variables and total intracranial volume, total brain volume, age, verbal IQ, and performance IQ as covariates. No significant differences were found; however, a trend was noted in which macrocephalic individuals with autism consistently exhibited slightly smaller cerebellar volume or surface area when compared to individuals with benign macrocephaly. In autism, with and without macrocephaly, cerebellar structures were found to be proportional to head size and did not differ from typically developing subjects.
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PMID:Quantitative magnetic resonance image analysis of the cerebellum in macrocephalic and normocephalic children and adults with autism. 1841 39

XXYY syndrome occurs in approximately 1:18,000-1:40,000 males. Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. We report on the results of a cross-sectional, multi-center study of 95 males age 1-55 with XXYY syndrome (mean age 14.9 years), describing diagnosis, physical features, medical problems, medications, and psychological features stratified by age groups. The mean age of diagnosis was 7.7 years. Developmental delays and behavioral problems were the most common primary indication for genetic testing (68.4%). Physical and facial features varied with age, although hypertelorism, clinodactyly, pes planus, and dental problems were common across all age groups. Tall stature was present in adolescents and adults, with a mean adult stature of 192.4 cm (SD 7.5; n = 22). Common medical problems included allergies and asthma (>50%), congenital heart defects (19.4%), radioulnar synostosis (17.2%), inguinal hernia and/or cryptorchidism (16.1%), and seizures (15%). Medical features in adulthood included hypogonadism (100%), DVT (18.2%), intention tremor (71%) and type II diabetes (18.2%). Brain MRI (n = 35) showed white matter abnormalities in 45.7% of patients and enlarged ventricles in 22.8%. Neurodevelopmental and psychological difficulties were a significant component of the behavioral phenotype, with developmental delays and learning disabilities universal but variable in severity. Twenty-six percent had full-scale IQs in the range of intellectual disability (MR), and adaptive functioning was significantly impacted with 68% with adaptive composite scores <70. Rates of neurodevelopmental disorders, including ADHD (72.2%), autism spectrum disorders (28.3%), mood disorders (46.8%), and tic disorders (18.9%), were elevated with 55.9% on psychopharmacologic medication overall. Recommendations for evaluation and treatment are summarized.
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PMID:A new look at XXYY syndrome: medical and psychological features. 1848 Dec 71

Thalamic alterations have been reported in autism, but the relationships between these abnormalities and clinical symptoms, specifically sensory features, have not been elucidated. The goal of this investigation is to combine two neuroimaging methods to examine further the pathophysiology of thalamic anomalies in autism and to identify any association with sensory deficits. Structural MRI and multi-voxel, short echo-time proton magnetic resonance spectroscopy ((1)H MRS) measurements were collected from 18 male children with autism and 16 healthy children. Anatomical measurements of thalamic nuclei and absolute concentration levels of key (1)H MRS metabolites were obtained. Sensory abnormalities were assessed using a sensory profile questionnaire. Lower levels of N-acetylaspartate (NAA), phosphocreatine and creatine, and choline-containing metabolites were observed on the left side in the autism group compared with controls. No differences in thalamic volumes were observed between the two groups. Relationships, although limited, were observed between measures of sensory abnormalities and (1)H MRS metabolites. Findings from this study support the role of the thalamus in the pathophysiology of autism and more specifically in the sensory abnormalities observed in this disorder. Further investigations of this structure are warranted, since it plays an important role in information processing as part of the cortico-thalamo-cortical pathways.
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PMID:An MRI and proton spectroscopy study of the thalamus in children with autism. 1850 43

Autism spectrum disorders (ASD) are characterized by inflexible and repetitive behaviour. Response monitoring involves evaluating the consequences of behaviour and making adjustments to optimize outcomes. Deficiencies in this function, and abnormalities in the anterior cingulate cortex (ACC) on which it relies, have been reported as contributing factors to autistic disorders. We investigated whether ACC structure and function during response monitoring were associated with repetitive behaviour in ASD. We compared ACC activation to correct and erroneous antisaccades using rapid presentation event-related functional MRI in 14 control and ten ASD participants. Because response monitoring is the product of coordinated activity in ACC networks, we also examined the microstructural integrity of the white matter (WM) underlying this brain region using diffusion tensor imaging (DTI) measures of fractional anisotropy (FA) in 12 control and 12 adult ASD participants. ACC activation and FA were examined in relation to Autism Diagnostic Interview-Revised ratings of restricted and repetitive behaviour. Relative to controls, ASD participants: (i) made more antisaccade errors and responded more quickly on correct trials; (ii) showed reduced discrimination between error and correct responses in rostral ACC (rACC), which was primarily due to (iii) abnormally increased activation on correct trials and (iv) showed reduced FA in WM underlying ACC. Finally, in ASD (v) increased activation on correct trials and reduced FA in rACC WM were related to higher ratings of repetitive behaviour. These findings demonstrate functional and structural abnormalities of the ACC in ASD that may contribute to repetitive behaviour. rACC activity following errors is thought to reflect affective appraisal of the error. Thus, the hyperactive rACC response to correct trials can be interpreted as a misleading affective signal that something is awry, which may trigger repetitive attempts at correction. Another possible consequence of reduced affective discrimination between error and correct responses is that it might interfere with the reinforcement of responses that optimize outcomes. Furthermore, dysconnection of the ACC, as suggested by reduced FA, to regions involved in behavioural control might impair on-line modulations of response speed to optimize performance (i.e. speed-accuracy trade-off) and increase error likelihood. These findings suggest that in ASD, structural and functional abnormalities of the ACC compromise response monitoring and thereby contribute to behaviour that is rigid and repetitive rather than flexible and responsive to contingencies. Illuminating the mechanisms and clinical significance of abnormal response monitoring in ASD represents a fruitful avenue for further research.
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PMID:Response monitoring, repetitive behaviour and anterior cingulate abnormalities in autism spectrum disorders (ASD). 1855 Jun 22

A 7-year-old, right-handed girl started to have seizures at age 1 year 4 months. She developed normally until age 4 when she had worsening of seizures with auditory verbal agnosia, complete aphasia, and a behavioral disorder fulfilling the diagnostic criteria of autism. Medical therapy failed. MRI revealed a right temporal tumor. Video/EEG monitoring at age 7 showed contralateral electrical status epilepticus in wakefulness and sleep and ipsilateral onset of seizures. Resection (ganglioglioma with excessive inflammation) resulted in seizure freedom and marked reduction of the autistic features. This case is unique for being, to our knowledge, (1) the first in which a lesion located in the right, rather than left, temporal lobe resulted in secondary falsely localizing left temporal lobe electrical status epilepticus with a clinical picture of Landau-Kleffner syndrome and autism, and (2) the fourth reported patient with lesional Landau-Kleffner syndrome to respond to resective surgery.
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PMID:A child with refractory complex partial seizures, right temporal ganglioglioma, contralateral continuous electrical status epilepticus, and a secondary Landau-Kleffner autistic syndrome. 1860 26

MRI diffusion-tensor tracking (DTT) was performed in 17 high-functioning adolescents/adults with autism and 17 pairwise-matched controls. White matter pathways involved in face processing were examined due to the relevance of face perception to the social symptoms of autism, and due to known behavioral and functional imaging findings in autism. The hippocampo-fusiform (HF) and amygdalo-fusiform (AF) pathways had normal size and shape but abnormal microstructure in the autism group. The right HF had reduced across-fiber diffusivity (D-min) compared with controls, opposite to the whole-brain effect of increased D-min. In contrast, left HF, right AF, and left AF had increased D-min and increased along-fiber diffusivity (D-max), more consistent with the whole-brain effect. There was a general loss of lateralization compared with controls. The right HF D-min was markedly low in the autism subgroup with lower Benton face recognition scores, compared with the lower-Benton control subgroup, and compared with the higher-Benton autism subgroup. Similar behavioral relationships were found for performance IQ. Such results suggest an early functionally-significant pathological process in right HF consistent with small-diameter axons (with correspondingly slower neural transmission) and/or higher packing density. In left AF and HF, changes were interpreted as secondary, possibly reflecting axonal loss and/or decreased myelination.
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PMID:Neuronal fiber pathway abnormalities in autism: an initial MRI diffusion tensor tracking study of hippocampo-fusiform and amygdalo-fusiform pathways. 1895 74


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