175 research outputs found

    Autism and classification systems: a study of 84 children

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    <p>Abstract</p> <p>Background</p> <p>A number of studies have shown that current classification systems (ICD 10, DSM IV TR) have limitation when applied to autistic children and the category PDD NOS (DSM IV TR) has in particular been criticized. To check the possible usefulness of other classification systems to better describe patient's functioning, we retrospectively studied 84 patients, seen consecutively in our Child Neurology and Psychiatry Department (excluding only those presenting for another disease even if with clinical signs of a PDD).</p> <p>Methods</p> <p>We tried to classify them according to ICD 10, DSM IV TR, CFTMEA-R, "operational classification" (Manzano and Palacio) and de Ajuriaguerra's classification.</p> <p>Results</p> <p>We found a good correspondence between DSM IV TR and ICD 10 and the use of psychodynamic classification systems (in particular CFTMEA-R) was useful to differentiate clinical subtypes collected under the PDD NOS etiquette according to DSM IV TR.</p> <p>Conclusions</p> <p>To rationalize research efforts and find better tailored therapies, we need to improve PDD classification systems, using contributions coming from every field of child psychiatry and neurology: it's possible that 0-3 Classification could help this.</p

    Cognitive impairment in children and adolescents with migraine

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    INTRODUCTION The presence and characteristics of cognitive alterations in children and adolescents affected by migraine have been largely under-investigated. Childhood and adolescence are key periods for personal growth and academic achievements, and migraine-related cognitive deficits may interfere with functioning levels across several settings. A careful analysis of cognitive impairment in the context of migraine is pivotal for making informed decisions on the most appropriate care pathways. METHODS We therefore critically evaluated the results of research studies conducted to date on cognitive function in children and adolescents affected by migraine using the Pubmed database. The literature search was limited to original articles published in English language and focused on current research trends. We operationally defined cognitive processing as the range of individual cognitive functions assessed by neuropsychological studies. Our analysis, which did not include findings on cognitive processing assessed by neurophysiological measures for methodological consistency, led us to formulate the opinion that young patients affected by migraine may present with specific cognitive deficits. RESULTS An early neuropsychological study on young patients with migraine was conducted in 1989 on a group of 20 children affected by migraine without aura, aged between 7 and 11. The authors of this study did not identify clinically relevant impairment in cognitive performance, with the exception of impaired functioning in short and long-term memory tasks (1). A few years later, Haverkamp et al. (2) reported no significant differences between children with migraine aged 6–12 years and their healthy siblings on a measure of sequential and simultaneous information processing (2). Contrarily, Riva et al. (3) reported significant alterations in the information processing rate only. Patients with migraine showed delayed reaction times to visual stimuli compared to healthy controls; interestingly, reaction times were the only parameters showing a significant correlation with the pattern of headache episodes. The authors hypothesized the existence of reduced rates of information processing speed within the posterior cortical areas involved in detecting visual stimuli and within the premotor areas responsible for programming and implementing motor responses. The findings of this study were however limited by the absence of a matched control group (3)

    Mother-Child Agreement on Behavioral Ratings in Tourette Syndrome: A Controlled Study.

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    In Tourette syndrome, motor and phonic tics are associated with a spectrum of psychiatric disorders. As proxy report instruments are commonly used to assess children with Tourette syndrome, we investigated the relationship between child and mother ratings of behavioral problems. We enrolled 28 children with Tourette syndrome (25 males; mean age, 13.9 years) and 61 gender- and age-matched healthy controls (55 males; mean age, 14.7 years). Clinicians completed measures of tic severity, and all children completed the Youth Self-Report version of the Child Behavior Checklist, while their mothers completed the Child Behavior Checklist. In the clinical group, Youth Self-Report scores were significantly lower than mothers' Child Behavior Checklist scores across the majority of subscales (especially affect and somatization). In contrast, for the control group, mother and child ratings only differed for the externalizing behavior subscales. Clinicians should be aware of these differences between self and mother ratings for specific behavioral problems in Tourette syndrome

    Social stigma and self-perception in adolescents with tourette syndrome

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    Tourette syndrome (TS) is a complex neurodevelopmental disorder characterized by multiple motor and vocal tics, which commonly presents with multiple behavioral problems, including co-morbid attention-deficit and hyperactivity disorder and obsessive-compulsive disorder. Both tics and co-morbid conditions have been shown to potentially affect patients' health-related quality of life. While TS typically presents in childhood, its manifestations peak in severity during adolescence, a critical period in which affected individuals are exposed to potential stigma from peers. Physical and behavioral manifestations can also contribute to stigma, which subsequently leads to poorer health outcomes, discrimination, and a reduced willingness to seek help. The available evidence suggests that young patients with TS can experience reduced social acceptance from peers and difficulties establishing relationships. There is also evidence that some health care professionals share the unhelpful belief that young patients with TS should be disciplined in order to correct their disruptive behavior, based on the erroneous assumption that tics can be consciously controlled. Studies focussed on self-perception in patients with TS have yielded inconsistent results, with some studies showing problems in the domains of self-concept and self-esteem. Feelings of isolation, loneliness, and experiences of bullying have been reported more consistently. Interventions are required to reduce misconceptions about the condition and thus reduce stigma through targeted education and behavioral interventions. A multi-faceted approach that focuses on educating children, adults, and educators about TS would be beneficial to help alleviate stigma. This can be combined with self-advocacy and tailored psychological therapies for young patients with TS. The present paper reviews the current literature on stigma and self-perception in adolescents with TS in order to inform clinical decisions about management strategies and possible interventions to improve health-related quality of life

    Arm trajectories and writing strategy in healthy children

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    BACKGROUND: Evaluation of elementary writing skills in children is usually obtained with high resolution (and high cost) techniques or with low resolution pen-and-paper tests. In this observational study we tested a quantitative method to obtain normative data to describe arm movement during a writing precursor gesture. METHODS: We recruited 226 healthy children (mean age 9,1 years [range: 6.3 – 11.4 years]), attending primary schools belonging to the “Istituto Comprensivo” of Rivanazzano Terme (Pavia). We asked to drive a cursor through a polygonal path (labyrinth) projected in front of them using a wireless mouse. Dartfish™ video analysis software was used to elaborate images and Excel™, MedCalc™ and Statistica 7™ to analyze values of shoulder, elbow and wrist ranges of motion, arm trajectories, execution times and gesture accuracy. RESULTS: Differences seen in motor strategies, when divided according to attended class, suggest a proximal-distal maturation of motor control. Obtained values were not significantly correlated with variables such as gender, ethnicity or cognitive functioning. CONCLUSIONS: This type of approach to a study of arm movement during childhood represents a valid alternative to other tests, considering that it can differentiate children who perform similarly in the VMI test and is non-invasive, low-cost and easily reproducible

    Inhibition of the de-myelinating properties of Aicardi-Goutières syndrome lymphocytes by cathepsin D silencing.

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    Molecular mechanisms relating interferon-alpha (IFN-alpha) to brain damage have recently been identified in a microarray analysis of cerebrospinal fluid lymphocytes from patients with Aicardi-Goutières Syndrome (AGS). These findings demonstrate that the inhibition of angiogenesis and the activation of neurotoxic lymphocytes are the major pathogenic mechanisms involved in the brain damage consequent to elevated interferon-alpha levels. Our previous study demonstrated that cathepsin D, a lysosomal aspartyl endopeptidase, is the primary mediator of the neurotoxicity exerted by AGS lymphocytes. Cathepsin D is a potent pro-apoptotic, neurotoxic, and demyelinating protease if it is not properly inhibited by the activities of leukocystatins. In central nervous system white matter, demyelination results from cathepsin over-expression when not balanced by the expression of its inhibitors. In the present study, we used RNA interference to inhibit cathepsin D expression in AGS lymphocytes with the aim of decreasing the neurotoxicity of these cells. Peripheral blood lymphocytes collected from an AGS patient were immortalized and co-cultured with astrocytes in the presence of interferon alpha with or without cathepsin D RNA interference probes. Cathepsin D expression was measured by qPCR, and neurotoxicity was evaluated by microscopy. RNA interference inhibited cathepsin D over-production by 2.6-fold (P<0.01) in AGS lymphocytes cultured in the presence of interferon alpha. AGS lymphocytes treated using RNA interference exhibited a decreased ability to induce neurotoxicity in astrocytes. Such neurotoxicity results in the inhibition of astrocyte growth and the inhibition of the ability of astrocytes to construct web-like aggregates. These results suggest a new strategy for repairing AGS lymphocytes in vitro by inhibiting their ability to induce astrocyte damage and leukodystroph

    O055. Headache and psychopathological aspects in Gilles de la Tourette Sindrome:a comparison between paediatric and adult patients

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    Only few studies have analyzed the occurrence of headache in patients with Gilles de la Tourette syndrome (GTS) [1–3]. The aim of this study was to compare the prevalence and characteristics of headache in paediatric and adult patients with GTS and the relationship of headache with tic severity, psychiatric comorbidities and quality of life

    Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC)

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    Benign familial neonatal convulsion (BFNC) is a rare autosomal dominant disorder caused by mutations in KCNQ2 and KCNQ3, two genes encoding for potassium channel subunits. A large family with nine members affected by BFNC is described in the present study. All affected members of this family carry a novel deletion/insertion mutation in the KCNQ2 gene (c.761_770del10insA), which determines a premature truncation of the protein. In addition, in the family of the proposita's father, a novel sequence variant (c.2687A>G) in KCNQ3 leading to the p.N821S amino acid change was detected. When heterologously expressed in Chinese hamster ovary cells, KCNQ2 subunits carrying the mutation failed to form functional potassium channels in homomeric configuration and did not affect channels formed by KCNQ2 and/or KCNQ3 subunits. On the other hand, homomeric and heteromeric potassium channels formed by KCNQ3 subunits carrying the p.N821S variant were indistinguishable from those formed by wild-type KCNQ3 subunits. Finally, the current density of the cells mimicking the double heterozygotic condition for both KCNQ2 and KCNQ3 alleles of the proband was decreased by approximately 25% when compared to cells expressing only wild-type alleles. Collectively, these results suggest that, in the family investigated, the KCNQ2 mutation is responsible for the BFNC phenotype, possibly because of haplo-insufficiency, whereas the KCNQ3 variant is functionally silent, a result compatible with its lack of segregation with the BFNC phenotyp
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