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)

Previous work demonstrated enlargement of the neocerebellar vermis in Williams' syndrome (WS), despite diminished volumes in the cerebral hemispheres. We present the first in vivo volumetric study of any structure within the cerebellar hemispheres. Using MRI, we identified and reliably measured the neocerebellar tonsils in WS subjects; Down's syndrome (DS) subjects matched for age, IQ, and cerebral volume; and age-matched normal controls. WS tonsils were equal in size to control tonsils and larger than DS tonsils. In proportion to the cerebrum, WS tonsils were larger than controls'. These results coincide with the remarkable neuropsychological preservation of language and affect in WS, despite general cognitive impairment. They contrast with the neocerebellar vermal hypoplasia seen in autism, with its communicative and affective deficits. Additionally, two WS subjects showed Chiari type I malformations, but the average tonsillar position in WS was not found to be different than in controls.
 ...
PMID:Specific neurobehavioral profile of Williams' syndrome is associated with neocerebellar hemispheric preservation. 140 82

Reiss et al. (1985) described two autistic children with the Williams syndrome, a dysmorphic developmental syndrome of unknown cause. Both children also showed elevated blood serotonin levels. The present report describes two prepubescent females with the characteristic features of Williams syndrome, who are not autistic and who have blood serotonin levels within the normal range. These findings suggest that further study of developmental disorders that coexist with autism may help clarify the relationship between autism and putative biological markers such as hyperserotonemia.
J Autism Dev Disord 1989 Mar
PMID:Williams syndrome: serotonin's association with developmental disabilities. 246 44

Williams syndrome (WMS) is a rare sporadic disorder that yields a distinctive profile of medical, cognitive, neurophysiological, neuroanatomical and genetic characteristics. The cognitive hallmark of WMS is a dissociation between language and face processing (relative strengths) and spatial cognition (profound impairment). Individuals with WMS also tend to be overly social, behavior that is opposite to that seen in autism. A genetic hallmark of WMS is a deletion on chromosome band 7q11.23. Williams syndrome is also associated with specific neuromorphological and neurophysiological profiles: proportional sparing of frontal, limbic and neocerebellar structures is seen using MRI; and abnormal functional organization of the neural systems that underlie both language and face processing is revealed through studies using event-related potentials. The non-uniformity in the cognitive, neuromorphological and neurophysiological domains of WMS make it a compelling model for elucidating the relationships between cognition, the brain and, ultimately, the genes.
 ...
PMID:Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome. 1032 91

Williams syndrome (WS) is a rare (2-5/100,000) genetic human disorder characterised by a typical facies and mental retardation with a deficit in the visuospatial cognitive function and a relative preservation of linguistic abilities in general, and spoken language in particular. This syndrome also includes morphological anomalies, metabolic functional impairments, and likely deficits in the pattern of brain ontogenesis. The genetic basis of WS, recently identified, are presented. A cognitive profile of the WS individuals is defined and compared to Down syndrome (DS) and autism cognitive profiles. Neuroanatomical features of WS, including a reduction in brain volume, preservation of cerebellum and frontal lobes, and a reduction of posterior cortical systems, are described. The possible role of NGF (nerve growth factor)--a neurotrophin involved in the development of brain cholinergic systems and the associated behavioural functions--in the aetiology of the typical mental retardation of WS patients, is critically discussed. Future research avenues, including the identification of potential neurobiological markers in order to precociously diagnose this syndrome, are reviewed.
 ...
PMID:[Williams syndrome]. 1064 54

OBJECTIVE AND DEVELOPMENT: We review the different cognitive and behaviour disorders in whose genesis the cerebellum has been thought to play a part. These disorders include infantile autism, Williams' syndrome, attention-deficit hyperactivity disorder and congenital cerebellar hypoplasia. We also consider the consequences of an acquired cerebellar lesion in the light of the following neuropsychological sequelas. It would seem that the cerebellum is involved in the functioning of the executive system due to its relationship with the prefrontal operative system and in the function of the working memory, and may share some of the characteristics of the acquired frontal syndrome.
 ...
PMID:[Does the cerebellum play a part in cognitive processes?]. 1100 92

The behavior of parents, adult caregivers, and peers comprises the critical features of community support for the development of communication in young children with developmental disabilities. In a bio-ecological model of development, communication development is the result of the interactions of individuals with specific characteristics, in particular contexts over time. From the perspective of this model, foundational findings of intervention research to current views of communication development in children with developmental disabilities are summarized. The contributions of individual child characteristics to child-caregiver interactions that support language development are illustrated based on research with children who have autism, Williams syndrome, Down syndrome, and children who use augmentative communication systems. Parent-child interaction and the quality and quantity of parent talk are discussed as factors in children's language development. The effects of young children's delayed language on their interactions with peers, the contributions of peers to children's language learning and use, and the critical features of classroom settings that support child language development are reviewed. MRDD Research Reviews 7:143-150, 2001.
 ...
PMID:Supporting communication in young children with developmental disabilities. 1138 70

Two developmental disorders, autism and Williams syndrome, are both commonly described as having difficulties in integrating perceptual features, i.e. binding spatially separate elements into a whole. It is already known that healthy adults and infants display electroencephalographic (EEG) gamma-band bursts (around 40 Hz) when the brain is required to achieve such binding. Here we explore gamma-band EEG in autism and Williams Syndrome and demonstrate differential abnormalities in the two phenotypes. We show that despite putative processing similarities at the cognitive level, binding in Williams syndrome and autism can be dissociated at the neurophysiological level by different abnormalities in underlying brain oscillatory activity. Our study is the first to identify that binding-related gamma EEG can be disordered in humans.
 ...
PMID:Disordered visual processing and oscillatory brain activity in autism and Williams syndrome. 1152 50

Face recognition is often considered to be a modular (encapsulated) function. This annotation supports the proposal that faces are special, but suggests that their identification makes use of general-purpose cortical systems that are implicated in high-level vision and also in memory and learning more generally. These systems can be considered to function within two distinct cortical streams: a medial stream (for learning and salience of faces encountered) and a lateral stream (for distributed representations of visual properties and identities of faces). Function in the lateral stream, especially, may be critically dependent on the normal development of magnocellular vision. The relevance of face recognition anomalies in three developmental syndromes (Autism, Williams syndrome, and Turner syndrome) and the two-route model sketched above is considered.
 ...
PMID:Annotation: the cognitive neuroscience of face recognition: implications for developmental disorders. 1158 43

An experimental paradigm that assesses one's capacity to perform intermodality attention shifting has proved to be sensitive for persons with cerebellar dysfunction. The basic experiment includes three conditions, auditory focus, visual focus and shift attention. In the auditory focus condition, the participant is instructed to press a joystick button when they hear the target tone and to ignore the other tone and the two visual stimuli. In the visual focus condition, the participant is instructed to press only the button to the target colored square and to ignore the other colored square and the two tones. In the shift attention condition, the participant is instructed to press the button to the first auditory target and then to press to the next visual target. They are instructed to continue to alternate their responses between auditory and visual targets until the trial is complete. Three individuals with Williams Syndrome (WMS), a genetic disorder due to the deletion of the elastin gene, were examined under these experimental conditions. Each participant with WMS had previously completed magnetic resonance imaging, and mid-sagittal area measurements had been made of the vermal lobules I-V and VI-VII. Cases were selected on the basis of cerebellar findings: one case was hypoplastic, one was hyperplastic and one had measurements in a range within one standard deviation of average for normal controls. Each of the WMS participants showed a pattern of being impaired in being able to shift their attention rapidly when cue-to-target intervals were less than 2.5 s. Their performance was very similar to previous reports of persons with cerebellar abnormalities and persons with autism. All three participants improved their target accuracy when given more time to shift their attention. The three participants did not experience performance deficits to either long or short cue-to-target intervals in the auditory focus or visual focus conditions. The results are consistent with the presence of cerebellar dysfunction, and are the first to suggest problems with shifting attention in persons with WMS. However, the three WMS participants demonstrated normal joint attention and had none of the social deficits observed in persons with autism.
 ...
PMID:Shifting attention and joint attention dissociation in Williams syndrome: implications for the cerebellum and social deficits in autism. 1211 19

Form and motion coherence was tested in children with dyspraxia and matched controls to assess their global spatial and global motion processing abilities. Thresholds for detecting form coherence patterns were significantly higher in the dyspraxic group than in the control group. No corresponding difference was found on the motion coherence task. We tested eight children with dyspraxic disorder (mean age 8.2 years) and 50 verbal-mental-age matched controls (mean age 8.4 years) to test for a neural basis to the perceptual abnormalities observed in dyspraxia. The results provide evidence that children with dyspraxia have a specific impairment in the global processing of spatial information. This finding contrasts with other developmental disorders such as Williams syndrome, autism and dyslexia where deficits have been found in global motion processing and not global form processing. We conclude that children with dyspraxia may have a specific occipitotemporal deficit and we argue that testing form and motion coherence thresholds might be a useful diagnostic tool for the often coexistent disorders of dyspraxia and dyslexia.
 ...
PMID:Form and motion coherence processing in dyspraxia: evidence of a global spatial processing deficit. 1216 61


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