Floriana Costanzo

Executive functions in individuals with Williams syndrome.

BACKGROUND The present study was aimed at investigating working memory (WM) and executive functions capacities in individuals with Williams syndrome (WS) as compared with mental-age matched typically developing (TD) children. METHOD In order to serve the study goal, a sizeable battery of tasks tapping WM as well as attention, memory, planning, categorisation, shifting and inhibition abilities was administered to 15 individuals with WS (mean chronological age of 19.11 and mean mental age of 6.10), and to a group of 15 TD children (mean chronological age of 7.6 and mean mental age of 6.9). RESULTS Participants with WS showed deficits in both verbal and visual-spatial modalities for selective and sustained attention, short-term memory and WM, planning and inhibition. However, considering categorisation and shifting abilities, relatively unimpaired performance emerged on those tasks relying on verbal materials. CONCLUSIONS These findings are both relevant to improve our knowledge about certain qualitative aspects of the anomalous cognitive development in WS as well as for its eventual clinical implications.

Executive Functions in Intellectual Disabilities: A Comparison between Williams Syndrome and Down Syndrome.

Executive functions are a set of high cognitive abilities that control and regulate other functions and behaviors and are crucial for successful adaptation. Deficits in executive functions are frequently described in developmental disorders, which are characterized by disadaptive behavior. However, executive functions are not widely examined in individuals with intellectual disability. The present study is aimed at evaluating the etiological specificity hypotheses pertaining to executive functions by comparing individuals with intellectual disability of different etiology, as Williams syndrome and Down syndrome, on different aspects of executive functions. To this aim a battery evaluating attention, short-term and working memory, planning, categorization, shifting and inhibition, was administered to 15 children, adolescents and adults with Williams syndrome, to 15 children, adolescents and adults with Down syndrome and to 16 mental-age-matched typically developing children. The two groups with intellectual disability showed impairment in a set of executive functions, as auditory sustained attention, visual selective attention, visual categorization and working memory, and preserved visual sustained attention, auditory selective attention and visual inhibition. However, a distinctive profile has been found between the two syndromic groups on other executive functions. While participants with Down syndrome were poor in shifting and verbal aspects of memory and inhibition, those with Williams syndrome were poor in planning. The specific weakness and straights on executive functions may support the etiological specificity hypothesis accounting for distinctive cognitive development syndrome-specific.

Relationship between brain and cognitive processes in down syndrome

We investigated regional grey matter (GM) density in adolescents with Down syndrome (DS) compared to age-matched controls and correlated MRI data with neuropsychological measures in the DS group. Inter-group comparisons documented several GM concentration abnormalities in the participants with DS compared to controls. In the adolescents with DS, intra-group results also showed associations between regional GM density and the neuropsychological measures considered. In particular, GM density of the cerebellum and middle and inferior temporal gyrus was associated with linguistic measures. Short-term memory performances were correlated with the inferior parietal lobule, insula, superior temporal gyrus, medial occipital lobe, and cerebellum. Long-term memory abilities were correlated with GM density in the orbitofrontal cortex, lateral and medial temporal lobe regions, and anterior cingulum and visuo-perceptual abilities with GM density the left middle frontal gyrus. Results of this preliminary study are consistent with a not always efficient brain organization in DS.

Recognition memory and prefrontal cortex: Dissociating recollection and familiarity processes using rTMS

Recognition memory can be supported by both the assessment of the familiarity of an item and by the recollection of the context in which an item was encountered. The neural substrates of these memory processes are controversial. To address these issues we applied repetitive transcranial magnetic stimulation (rTMS) over the right and left dorsolateral prefrontal cortex (DLPFC) of healthy subjects performing a remember/know task. rTMS disrupted familiarity judgments when applied before encoding of stimuli over both right and left DLPFC. rTMS disrupted recollection when applied before encoding of stimuli over the right DLPFC. These findings suggest that the DLPFC plays a critical role in recognition memory based on familiarity as well as recollection.

Allocentric spatial learning and memory deficits in Down syndrome

Studies have shown that persons with Down syndrome (DS) exhibit relatively poor language capacities, and impaired verbal and visuoperceptual memory, whereas their visuospatial memory capacities appear comparatively spared. Individuals with DS recall better where an object was previously seen than what object was previously seen. However, most of the evidence concerning preserved visuospatial memory comes from tabletop or computerized experiments which are biased toward testing egocentric (viewpoint-dependent) spatial representations. Accordingly, allocentric (viewpoint-independent) spatial learning and memory capacities may not be necessary to perform these tasks. Thus, in order to more fully characterize the spatial capacities of individuals with DS, allocentric processes underlying real-world navigation must also be investigated. We tested 20 participants with DS and 16 mental age-matched, typically developing (TD) children in a real-world, allocentric spatial (AS) memory task. During local cue (LC) trials, participants had to locate three rewards marked by local color cues, among 12 locations distributed in a 4 m × 4 m arena. During AS trials, participants had to locate the same three rewards, in absence of LCs, based on their relations to distal environmental cues. All TD participants chose rewarded locations in LC and AS trials at above chance level. In contrast, although all but one of the participants with DS exhibited a preference for the rewarded locations in LC trials, only 50% of participants with DS chose the rewarded locations at above chance level in AS trials. As a group, participants with DS performed worse than TD children on all measures of task performance. These findings demonstrate that individuals with DS are impaired at using an AS representation to learn and remember discrete locations in a controlled environment, suggesting persistent and pervasive deficits in hippocampus-dependent memory in DS.

How to improve reading skills in dyslexics: the effect of high frequency rTMS.

The latest progress in understanding remediation of dyslexia underlines how some changes in brain are a necessary mechanism of improvement. We wanted to determine whether high frequency repetitive transcranial magnetic stimulation (hf-rTMS) over areas that are underactive during reading in dyslexics, would improve reading of dyslexic adults. We applied 5Hz-TMS over both left and right inferior parietal lobule (IPL) and superior temporal gyrus (STG) prior to word, non-word and text reading aloud. Results show that hf-rTMS stimulation over the left IPL improves non-word reading accuracy and hf-rTMS stimulation over the left STG increases word reading speed and text reading accuracy. Moreover after right IPL stimulation, non-word reading accuracy also improves. These findings indicate that in dyslexics, L-STG and L-IPL have a differential role in word, non-word and text reading. Even if we would normally expect left-lateralized improvements only, the finding of a right IPL involvement suggests that there is additional compensatory recruitment of this region in dyslexics. In conclusion, we provide the first evidence that distinctive facilitation of neural pathways known to be underactive in dyslexics transitorily improves their reading performance. Such ameliorative effect may open new perspectives for the development of long-term specific treatments for dyslexia.

Neuropsychological Profile of Italian Children and Adolescents with 22q11.2 Deletion Syndrome with and Without Intellectual Disability

As individuals with chromosome 22q11.2 deletion syndrome (22q11DS) show a wide range of IQs, intellectual heterogeneity could mask the neuropsychological profile of the syndrome. This study was designed to identify specific neuropsychological features of children and adolescents with 22q11DS by taking into account the possible source of variability deriving from intellectual disability (ID). First, we compared several neuropsychological domains involving linguistic, visual-motor/visual-perceptual and memory abilities in 34 children and adolescents with 22q11DS and 83 mental age-matched typically developing (TD) participants. Then, we selected participants with 22q11DS according to whether or not they had ID and compared their neuropsychological profiles with those of chronological age-matched TD controls. Although language and several aspects of memory have been found impaired only in children with 22q11DS with ID, deficits in visual-spatial abilities and visual-object short-term memory persist in participants without ID and might be considered a characteristic of 22q11DS, not just related to the presence of ID. On the basis of our findings, children and adolescents with 22q11DS cannot be considered as a single group with a homogeneous neuropsychological profile and must be studied in relation to their global intellectual abilities.

Reading changes in children and adolescents with dyslexia after transcranial direct current stimulation

Noninvasive brain stimulation offers the possibility to induce changes in cortical excitability and it is an interesting option as a remediation tool for the treatment of developmental disorders. This study aimed to investigate the effect of transcranial direct current stimulation (tDCS) on reading and reading-related skills of children and adolescents with dyslexia. Nineteen children and adolescents with dyslexia performed different reading and reading-related tasks (word, nonword, and text reading; lexical decision; phonemic blending; verbal working memory; rapid automatized naming) in a baseline condition without tDCS and after 20 min of exposure to three different tDCS conditions: left anodal/right cathodal tDCS to enhance left lateralization of the parietotemporal region, right anodal/left cathodal tDCS to enhance right lateralization of the parietotemporal region, and sham tDCS. In text reading, results showed a significant reduction in errors after left anodal/right cathodal tDCS and an increase in errors after left cathodal/right anodal tDCS. No effect was found in the other reading and reading-related tasks. Our findings indicate for the first time that one session of tDCS modulates some aspects of reading performance of children and adolescents with dyslexia and that the effect is polarity dependent. These single-session results support a potential role of tDCS for developing treatment protocols and suggest possible parameters for tDCS treatment customization in children and adolescents with dyslexia.

Familiarity and recollection in Williams syndrome

Interest is being shown in a componential analysis of performance on declarative memory tasks that distinguishes two different kinds of access to stored memories, recollection and familiarity. From a developmental perspective, it has been hypothesized that recollection emerges later and shows more developmental changes than familiarity. Nevertheless, the contribution of recollection and familiarity to the recognition performance of individuals with intellectual disabilities (ID) has been rarely examined. The present study was aimed at investigating the qualitative profile of declarative long-term memory in a group of individuals with Williams syndrome (WS). We compared 13 individuals with WS and 13 mental-age-matched typically developing children in two different experimental paradigms to assess the contribution of familiarity and recollection to recognition performance. We adopted a modified version of the process dissociation procedure and a task dissociation procedure, both of which are suited to individuals with ID. Results of both experimental paradigms demonstrated reduced recollection and spared familiarity in the declarative memory performances of individuals with WS. These results provide direct evidence of a dissociation between recollection and familiarity in a neurodevelopmental disorder and are discussed in relation to alternative approaches for explaining abnormal cognition in individuals with ID.

Evidence for reading improvement following tDCS treatment in children and adolescents with Dyslexia

PURPOSE There is evidence that non-invasive brain stimulation transitorily modulates reading by facilitating the neural pathways underactive in individuals with dyslexia. The study aimed at investigating whether multiple sessions of transcranial direct current stimulation (tDCS) would enhance reading abilities of children and adolescents with dyslexia and whether the effect is long-lasting. METHODS Eighteen children and adolescents with dyslexia received three 20-minute sessions a week for 6 weeks (18 sessions) of left anodal/right cathodal tDCS set at 1 mA over parieto-temporal regions combined with a cognitive training. The participants were randomly assigned to the active or the sham treatment; reading tasks (text, high and low frequency words, non-words) were used as outcome measures and collected before treatment, after treatment and one month after the end of treatment. The tolerability of tDCS was evaluated. RESULTS The active group showed reduced low frequency word reading errors and non-word reading times. These positive effects were stable even one month after the end of treatment. None reported adverse effects. CONCLUSIONS The study shows preliminary evidence of tDCS feasibility and efficacy in improving non-words and low frequency words reading of children and adolescents with dyslexia and it opens new rehabilitative perspectives for the remediation of dyslexia.