1,721,242 research outputs found

    Language and social communication in children with cerebellar dysgenesias

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    Objective: Acquired cerebellar lesions in children and adults may determine deficits of executive functions, visuoperceptual skills, expressive language and modulation of affect; a complex pattern termed 'cerebellar cognitive affective syndrome'. However, the long-term sequelae of malformative cerebellar lesions have yet to be systematically investigated, particularly in children. The purpose of this study was to present preliminary longitudinal data on the development of language and social communication skills in children with congenital malformations confined to the cerebellum. Patients and Methods: Five children ( 3 males, 2 females) with cerebellar malformations confined to the cerebellum were selected. Three patients presented with cerebellar hypoplasia involving the vermis and the hemispheres, while the remaining 2 had a malformation affecting only the cerebellar hemispheres. Neurobehavioral and language development were traced through access to available clinical data. Results: In the patients with cerebellar vermis malformation, language and social communicative skills were affected to a variable extent: 1 patient did not present with social disturbances during development. Those with hemispheric cerebellar lesions presented with selective linguistic impairments. Conclusions: The neurobehavioral profile of children with cerebellar malformations supports a key role of the cerebellum in language acquisition and affect regulation as distinguished functional domains. Copyright (c) 2007 S. Karger AG, Basel

    Evidence for a link among cognition, language and emotion in cerebellar malformations

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    We compared the neurobehavioral profiles of children with Joubert syndrome OS participants), a rare autosomal recessive condition characterized on magnetic resonance imaging (MRI) by hypoplasia of the cerebellar vermis and midbrain-hindbrain malformations, and children with malformations confined to the cerebellar vermis and one or both hemispheres (Cerebellar malformations - CM participants). We aimed at investigating the influence of anatomo-clinical similarities (vermian malformation) and differences (intact cerebellar hemispheres us sparing of the pons, respectively) with respect to cognitive, linguistic and emotional development, assuming as a reference framework the Cerebellar Cognitive Affective Syndrome (CCAS). Results show that severe to moderate mental retardation is infrequent in JS children, while it is present in more than half the sample of CM children. Affect development was generally preserved in JS, in high-functioning CM individuals and also in some of the CM children with moderate mental retardation, which raised questions as to the role of a cerebellar vermis lesion in determining affect disorders. Further, cognitive and linguistic profiles on both intellectual and neuropsychological evaluations provided evidence for distinct patterns of peaks and valleys in the two groups, with JS children being significantly more impaired in language and verbal working memory and CM individuals showing a significant impairment of executive functions and emotional development. The overall evidence provides support for an important role of cerebellar structures per se in shaping emotional, cognitive and linguistic development, when vermian lesions are associated to cerebellar hemispheric lesions. Cerebellar vermis and brainstem lesions instead appear to have a major impact on motor-related skills, including oro-motor abilities and verbal working memory. (C) 2009 Elsevier Srl. All rights reserved

    Finding a common path to the assessment of persons with intellectual development disorders

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    Intellectual developmental disorders (IDDs) encompass a group of conditions with onset in childhood that are characterized by substantial limitations in both intellectual functioning (learning, reasoning, and problem solving) and adaptive behavior (the collection of conceptual, social, and practical skills to carry out age-appropriate daily life activities).(

    Insights from perceptual, sensory, and motor functioning in autism and cerebellar primary disturbances: Are there reliable markers for these disorders?

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    The contribution of cerebellar circuitry alterations in the pathophysiology of Autism Spectrum Disorder (ASD) has been widely investigated in the last decades. Yet, experimental studies on neurocognitive markers of ASD have not been attentively compared with similar studies in patients with cerebellar primary disturbances (e.g., malformations, agenesis, degeneration, etc). Addressing this neglected issue could be useful to underline unexpected areas of overlap and/or underestimated differences between these sets of conditions. In fact, ASD and cerebellar primary disturbances (notably, Cerebellar Cognitive Affective Syndrome, CCAS) can share atypical manifestations in perceptual, sensory, and motor functions, but neural subcircuits involved in these anomalies/difficulties could be distinct. Here, we specifically deal with this issue focusing on four paradigmatic neurocognitive functions: visual and biological motion perception, multisensory integration, and high stages of the motor hierarchy. From a research perspective, this represents an essential challenge to more deeply understand neurocognitive markers of ASD and of cerebellar primary disturbances/CCAS. Although we cannot assume definitive conclusions, and beyond phenotypical similarities between ASD and CCAS, clinical and experimental evidence described in this work argues that ASD and CCAS are distinct phenomena. ASD and CCAS seem to be characterized by different pathophysiological mechanisms and mediated by distinct neural nodes. In parallel, from a clinical perspective, this characterization may furnish insights to tackle the distinction between autistic functioning/autistic phenotype (in ASD) and dysmetria of thought/autistic-like phenotype (in CCAS)

    Brain injury in a healthy child one year after periureteral injection of Teflon

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    This report presents the case of a previously healthy 6-year-old girl who had an ischemic injury corresponding to the territory perfused by the lateral branches of the lenticulostriate arteries of the middle cerebral artery. Stroke in childhood is rare, and the specific causes are identified in only half the cases. Our patient was carefully studied for any hereditary or acquired risk factors for stroke, but we found only one, an endoscopic injection of Teflon performed 1 year before to correct vesicoureteral reflux. This suggests the risk of potential migration of Teflon particles to the brain, where they can block the microcirculation

    Non-invasive brain stimulation for the rehabilitation of children and adolescents with neurodevelopmental disorders: A systematic reviewnon-invasive brain stimulation for the rehabilitation of children and adolescents with neurodevelopmental disorders: A systematic review

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    In the last years, there has been a growing interest in the application of different non-invasive brain stimulation techniques to induce neuroplasticity and to modulate cognition and behavior in adults. Very recently, different attempts have been made to induce functional plastic changes also in pediatric populations. Importantly, not only sensorimotor processing, but also higher-level functions have been addressed, with the aim to boost rehabilitation in different neurodevelopmental disorders. However, efficacy and safety of using these techniques in pediatric population is still debated. The current article aims to review the non-invasive brain stimulation studies conducted in pediatric populations using Transcranial Magnetic Stimulation or transcranial Direct Current Stimulation. Specifically, the available proofs concerning the efficacy and safety of these techniques on Autism Spectrum Disorder, Attention-deficit/hyperactivity disorder, Dyslexia, Tourette syndrome, and tic disorders are systematically reviewed and discussed. The article also aims to provide an overview about other possible applications of these and other stimulation techniques for rehabilitative purposes in children and adolescents

    Phonological memory updating and developmental dyslexia: The role of long-term knowledge

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    The relationship between phonological knowledge and reading is consistent both in typically developing children and in children with dyslexia. However, children with dyslexia usually show lower phonological skills. In a group of children with dyslexia 8- to 12-year-old we investigated how different long-term memory phonological associations are updated in memory, that is how are kept in mind and replaced when no longer relevant. Response times (RTs) and accuracy rates were collected. Typically, long-term memory associations are dismantled and updated with greater difficulty (longer RTs). We did not replicate these findings in children with dyslexia thus demonstrating the effects of phonological disruption during updating, a mechanism that is preserved overall. In summary, our work advances literature about how phonological knowledge impacts verbal working memory updating
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