Functional magnetic resonance imaging of cognitive processing in young adults with Down syndrome.
ABSTRACT The authors used functional magnetic resonance imaging (fMRI) to investigate neural activation during a semantic-classification/object-recognition task in 13 persons with Down syndrome and 12 typically developing control participants (age range = 12-26 years). A comparison between groups suggested atypical patterns of brain activation for the individuals with Down syndrome. Correlation analyses between an index of visual spatial ability and brain activation depicted a positive relationship between (a) this index and brain activation in regions of the occipital and parietal lobes for the typically developing individuals and (b) the middle and dorsal frontal gyri in the individuals with Down syndrome. These findings supported the authors' hypothesis that persons with Down syndrome demonstrate atypical neural activation compared with typically developing individuals matched for chronological age.
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ABSTRACT: Down Syndrome is the most common genetic cause for intellectual disability, yet the pathophysiology of cognitive impairment in Down Syndrome is unknown. We compared fMRI scans of 15 individuals with Down Syndrome to 14 typically developing control subjects while they viewed 50 min of cartoon video clips. There was widespread increased synchrony between brain regions, with only a small subset of strong, distant connections showing underconnectivity in Down Syndrome. Brain regions showing negative correlations were less anticorrelated and were among the most strongly affected connections in the brain. Increased correlation was observed between all of the distributed brain networks studied, with the strongest internetwork correlation in subjects with the lowest performance IQ. A functional parcellation of the brain showed simplified network structure in Down Syndrome organized by local connectivity. Despite increased interregional synchrony, intersubject correlation to the cartoon stimuli was lower in Down Syndrome, indicating that increased synchrony had a temporal pattern that was not in response to environmental stimuli, but idiosyncratic to each Down Syndrome subject. Short-range, increased synchrony was not observed in a comparison sample of 447 autism vs. 517 control subjects from the Autism Brain Imaging Exchange (ABIDE) collection of resting state fMRI data, and increased internetwork synchrony was only observed between the default mode and attentional networks in autism. These findings suggest immature development of connectivity in Down Syndrome with impaired ability to integrate information from distant brain regions into coherent distributed networks.01/2013; 2:703-15. DOI:10.1016/j.nicl.2013.05.006
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ABSTRACT: People with Rett syndrome (RTT) have severe communicative difficulties. They have as well an immature brainstem that implies dysfunction of the autonomic nervous system. Music plays an important role in their life, is often used as a motivating tool in a variety of situations and activities, and caregivers are often clear about people with RTTs favourites. The aim of this study was to investigate physiological and emotional responses related to six different musical stimuli in people with RTT. The study included 29 participants with RTT who were referred to the Swedish Rett Center for medical brainstem assessment during the period 2006–2007. 11 children with a typical developmental pattern were used as comparison. A repeated measures design was used, and physiological data were collected from a neurophysiological brainstem assessment. The continuous dependent variables measured were Cardiac Vagal Tone (CVT), Cardiac Sensitivity to Baroreflex (CSB), Mean Arterial Blood Pressure (MAP) and the Coefficient of Variation of Mean Arterial Blood Pressure (MAP-CV). These parameters were used to categorise brainstem responses as parasympathetic (calming) response, sympathetic (activating) response, arousal (alerting) response and unclear response. The results showed that all participants responded to the musical stimuli, but not always in the expected way. It was noticeable that both people with and without RTT responded with an arousal to all musical stimuli to begin with. Even though the initial expressions sometimes changed after some time due to poor control functions of their brainstem, the present results are consistent with the possibility that the RTT participants’ normal responses to music are intact. These findings may explain why music is so important for individuals with RTT throughout life.Research in developmental disabilities 06/2014; 35(6):1281–1291. DOI:10.1016/j.ridd.2014.03.002 · 4.41 Impact Factor
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ABSTRACT: Down syndrome (DS) is associated with extreme difficulty in verbal skills and relatively better visuo-spatial skills. Indeed, visuo-spatial ability is often considered a strength in DS. However, it is not clear whether this strength is only relative to the poor verbal skills, or, more impressively, relative to cognitive ability in general. To answer this question, we conducted an extensive literature review of studies on visuo-spatial abilities in people with Down syndrome from January 1987 to May 2013. Based on a general taxonomy of spatial abilities patterned after Lohman, Pellegrino, Alderton, and Regian (1987) and Carroll (1993) and existing studies of DS, we included five different domains of spatial abilities - visuo-spatial memory, visuo-spatial construction, mental rotation, closure, and wayfinding. We evaluated a total of 49 studies including 127 different comparisons. Most comparisons involved a group with DS vs. a group with typical development matched on mental age and compared on a task measuring one of the five visuo-spatial abilities. Although further research is needed for firm conclusions on some visuo-spatial abilities, there was no evidence that visuo-spatial ability is a strength in DS relative to general cognitive ability. Rather, the review suggests an uneven profile of visuo-spatial abilities in DS in which some abilities are commensurate with general cognitive ability level, and others are below.Research in developmental disabilities 04/2014; 35(7):1473-1500. DOI:10.1016/j.ridd.2014.04.002 · 4.41 Impact Factor
Lisa M Jacola