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1.
J Neurosci Res ; 101(5): 796-811, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-34133788

RESUMO

This article presents a revision of the literature regarding the influence of sex differences on the recovery and long-term behavioral and cognitive outcomes of preterm children. After initial discussion of some methodological concerns, the literature regarding the concept of "male disadvantage," which is often used when talking about early neurological and psychomotor outcomes in preterm children, is presented. Subsequently, the literature data on sex-related differences in preterm children are discussed, focusing on their influence on the developmental pathways of cognition, language, executive function, behavior and affect, and response to rehabilitation therapies. Finally, evidence about brain structural and connectivity correlates of sex differences in the brain of preterm survivors is taken into account. Although visuo-spatial and visuo-perceptual functioning is widely studied in the preterm child and is strongly sex specific, little to no data are available regarding male-female differences in preterm children and the interaction effect between sex and preterm birth. For this reason, original data analyses of male-female differences in visuo-spatial performance from a small sample of preterm children are also presented.


Assuntos
Nascimento Prematuro , Humanos , Criança , Masculino , Recém-Nascido , Feminino , Cognição/fisiologia , Função Executiva , Encéfalo , Idioma
2.
Neuroophthalmology ; 47(2): 75-78, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36891409

RESUMO

Neurovisual involvement has been reported in a number of patients with severe SARS-CoV-2 disease (COVID-19), mainly among adult patients. In children, such involvement has been reported in rare cases, often in those presenting with severe forms of COVID-19. The aim of this work is to explore the association between mild COVID-19 and neurovisual manifestations. We report the cases of three previously healthy children who developed neurovisual manifestations following mild acute COVID-19, analysing the clinical phenotype, the latency between the onset of acute COVID-19 and neurovisual involvement, and the kinetic of resolution. Our patients developed different clinical patterns, including visual impairment and ophthalmoplegia. In two cases, these clinical features occurred during acute COVID-19, while in the third patient their development was delayed after 10 days from disease onset. Furthermore, the dynamics of resolution were different, with one patient showing remission after 24 hours, the second after 30 days, and the third showing persistence of the strabismus after 2 months of follow-up. The spreading of COVID-19 among the paediatric population will probably lead to an increase of atypical disease forms, including those presenting with neurovisual involvement. Therefore, a better knowledge of the pathogenic and clinical features of these manifestations is warranted.

3.
Int J Mol Sci ; 23(3)2022 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-35162977

RESUMO

Impairment of the geniculostriate pathway results in scotomas in the corresponding part of the visual field. Here, we present a case of patient IB with left eye microphthalmia and with lesions in most of the left geniculostriate pathway, including the Lateral Geniculate Nucleus (LGN). Despite the severe lesions, the patient has a very narrow scotoma in the peripheral part of the lower-right-hemifield only (beyond 15° of eccentricity) and complete visual field representation in the primary visual cortex. Population receptive field mapping (pRF) of the patient's visual field reveals orderly eccentricity maps together with contralateral activation in both hemispheres. With diffusion tractography, we revealed connections between superior colliculus (SC) and cortical structures in the hemisphere affected by the lesions, which could mediate the retinotopic reorganization at the cortical level. Our results indicate an astonishing case for the flexibility of the developing retinotopic maps where the contralateral thalamus receives fibers from both the nasal and temporal retinae.


Assuntos
Corpos Geniculados , Córtex Visual , Mapeamento Encefálico , Humanos , Córtex Visual Primário , Colículos Superiores , Córtex Visual/diagnóstico por imagem , Córtex Visual/fisiologia , Campos Visuais
4.
Int J Mol Sci ; 23(14)2022 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-35887175

RESUMO

Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. Albino patients can show significant clinical variability; some individuals can present with only mild depigmentation and subtle ocular changes. Here, we provide a retrospective review of the standardized clinical charts of patients firstly addressed for evaluation of foveal hypoplasia and slightly subnormal visual acuity, whose diagnosis of albinism was achieved only after extensive phenotypic and genotypic characterization. Our report corroborates the pathogenicity of the two common TYR polymorphisms p.(Arg402Gln) and p.(Ser192Tyr) when both are located in trans with a pathogenic TYR variant and aims to expand the phenotypic spectrum of albinism in order to increase the detection rate of the albino phenotype. Our data also suggest that isolated foveal hypoplasia should be considered a clinical sign instead of a definitive diagnosis of an isolated clinical entity, and we recommend deep phenotypic and molecular characterization in such patients to achieve a proper diagnosis.


Assuntos
Albinismo Oculocutâneo , Albinismo , Albinismo Oculocutâneo/diagnóstico , Albinismo Oculocutâneo/genética , Albinismo Oculocutâneo/patologia , Oftalmopatias Hereditárias , Fóvea Central/anormalidades , Humanos , Nistagmo Congênito , Transtornos da Visão/diagnóstico , Acuidade Visual
5.
Int J Mol Sci ; 22(24)2021 Dec 14.
Artigo em Inglês | MEDLINE | ID: mdl-34948203

RESUMO

Moyamoya arteriopathy (MA) is a rare cerebrovascular disorder characterized by ischemic/hemorrhagic strokes. The pathophysiology is unknown. A deregulation of vasculogenic/angiogenic/inflammatory pathways has been hypothesized as a possible pathophysiological mechanism. Since lipids are implicated in modulating neo-vascularization/angiogenesis and inflammation, their deregulation is potentially involved in MA. Our aim is to evaluate angiogenic/vasculogenic/inflammatory proteins and lipid profile in plasma of MA patients and control subjects (healthy donors HD or subjects with atherosclerotic cerebrovascular disease ACVD). Angiogenic and inflammatory protein levels were measured by ELISA and a complete lipidomic analysis was performed on plasma by mass spectrometry. ELISA showed a significant decrease for MMP-9 released in plasma of MA. The untargeted lipidomic analysis showed a cumulative depletion of lipid asset in plasma of MA as compared to HD. Specifically, a decrease in membrane complex glycosphingolipids peripherally circulating in MA plasma with respect to HD was observed, likely suggestive of cerebral cellular recruitment. The quantitative targeted approach demonstrated an increase in free sphingoid bases, likely associated with a deregulated angiogenesis. Our findings indicate that lipid signature could play a central role in MA and that a detailed biomarker profile may contribute to untangle the complex, and still obscure, pathogenesis of MA.


Assuntos
Lipídeos/sangue , Doença de Moyamoya/sangue , Doenças Vasculares/sangue , Biomarcadores/sangue , Feminino , Humanos , Inflamação/sangue , Arteriosclerose Intracraniana/sangue , Lipidômica/métodos , Masculino , Pessoa de Meia-Idade , Neovascularização Patológica/sangue
6.
Int J Mol Sci ; 22(16)2021 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-34445196

RESUMO

The term hereditary ataxia (HA) refers to a heterogeneous group of neurological disorders with multiple genetic etiologies and a wide spectrum of ataxia-dominated phenotypes. Massive gene analysis in next-generation sequencing has entered the HA scenario, broadening our genetic and clinical knowledge of these conditions. In this study, we employed a targeted resequencing panel (TRP) in a large and highly heterogeneous cohort of 377 patients with a clinical diagnosis of HA, but no molecular diagnosis on routine genetic tests. We obtained a positive result (genetic diagnosis) in 33.2% of the patients, a rate significantly higher than those reported in similar studies employing TRP (average 19.4%), and in line with those performed using exome sequencing (ES, average 34.6%). Moreover, 15.6% of the patients had an uncertain molecular diagnosis. STUB1, PRKCG, and SPG7 were the most common causative genes. A comparison with published literature data showed that our panel would have identified 97% of the positive cases reported in previous TRP-based studies and 92% of those diagnosed by ES. Proper use of multigene panels, when combined with detailed phenotypic data, seems to be even more efficient than ES in clinical practice.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Degenerações Espinocerebelares/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Sequenciamento do Exoma , Adulto Jovem
7.
Dev Sci ; 23(5): e12977, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32333455

RESUMO

Dyslexia has been associated with a problem in visual-audio integration mechanisms. Here, we investigate for the first time the contribution of unisensory cues on multisensory audio and visual integration in 32 dyslexic children by modelling results using the Bayesian approach. Non-linguistic stimuli were used. Children performed a temporal task: they had to report whether the middle of three stimuli was closer in time to the first one or to the last one presented. Children with dyslexia, compared with typical children, exhibited poorer unimodal thresholds, requiring greater temporal distance between items for correct judgements, while multisensory thresholds were well predicted by the Bayesian model. This result suggests that the multisensory deficit in dyslexia is due to impaired audio and visual inputs rather than impaired multisensory processing per se. We also observed that poorer temporal skills correlated with lower reading skills in dyslexic children, suggesting that this temporal capability can be linked to reading abilities.


Assuntos
Percepção Auditiva/fisiologia , Dislexia/fisiopatologia , Percepção Visual/fisiologia , Teorema de Bayes , Criança , Sinais (Psicologia) , Feminino , Humanos , Julgamento , Masculino , Leitura
8.
Dev Med Child Neurol ; 62(1): 104-110, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31180136

RESUMO

AIM: To develop and validate the Visual Function Classification System (VFCS), which was created to classify how children with cerebral palsy (CP) use visual abilities in daily life. METHOD: The process of development and validation of the VFCS involved four phases: (1) drafting of the five levels from the analysis of literature and clinical experience; (2) validation of constructs and revision of the levels for concept meaningfulness, using nominal group process; (3) refinement by international Delphi survey; and(4) assessment of interrater reliability among professionals and with caregivers, and of test-retest reliability. RESULTS: Five nominal groups involved 29 participants; 65 people completed the first round and 51 the second round of the Delphi survey. Construct validity was demonstrated within an expert group and external validation through several stakeholders, with the involvement of patients and families to ensure meaningfulness of the concept. Discussions continued until consensus was reached about the construct and content of the five levels. Participants in the reliability study included 29 professionals, 39 parents, and a total sample of 160 children with CP (mean age [SD] 6y 6mo [3y 4mo]; median 5y 7mo, range 1-19y). Absolute interrater agreement among professionals was 86% (weighted κ=0.88; 95% confidence interval [CI] 0.83-0.93). Test-retest reliability was high (weighted κ=0.97; 95% CI 0.95-0.99). Parent-professional interrater reliability on 39 children was moderate (weighted κ=0.51; 95% CI 0.39-0.63). INTERPRETATION: The VFCS has been appropriately constructed and provides a reliable system to classify visual abilities of children with CP both in clinical and in research settings. WHAT THIS PAPER ADDS: The Visual Function Classification System is a valid and reliable system. It classifies visual abilities of children with cerebral palsy in clinical and research settings. At a clinical level, it can be used to harmonize communication among professionals and identify patients' strengths and weaknesses. In research settings, it can be used to stratify patients, define natural history evolution, and interpret intervention studies.


SISTEMA DE CLASIFICACIÓN DE LA FUNCIÓN VISUAL PARA NIÑOS CON PARÁLISIS CEREBRAL: DESARROLLO Y VALIDACIÓN: OBJETIVO: Desarrollar y validar el Sistema de Clasificación de la Función Visual (VFCS, siglas en inglés), que fue creado para clasificar cómo los niños con parálisis cerebral (PC) usan las habilidades visuales en la vida diaria. MÉTODO: El proceso de desarrollo y validación del VFCS involucró cuatro fases: (1) elaboración de los cinco niveles a partir del análisis de la literatura y la experiencia clínica; (2) la validación de constructos y la revisión de los niveles para el significado de los conceptos, utilizando un proceso de grupo nominal; (3) refinamiento por encuesta internacional de Delphi; (4) evaluación de la confiabilidad entre evaluadores entre profesionales y con los cuidadores, y de confiabilidad de prueba y reevaluación RESULTADOS: Cinco grupos nominales incluyeron 29 participantes; 65 personas completaron la primera ronda y 51 la segunda ronda de la encuesta de Delphi. La validez de constructo se demostró dentro de un grupo de expertos y una validación externa a través de varias partes interesadas, con la participación de los pacientes y las familias para garantizar el significado del concepto. Las discusiones continuaron hasta que se llegó a un consenso sobre el constructo y el contenido de los cinco niveles. Los participantes en el estudio de confiabilidad incluyeron 29 profesionales, 39 padres y una muestra total de 160 niños con PC (edad media [DS] 6 años 6 meses [3 años 4 meses]; mediana 5 años 7 meses, rango 1-19 años). El acuerdo de evaluador absoluto entre profesionales fue del 86% (κ ponderada = 0,88; intervalo de confianza del 95% [IC] 0,83-0,93). La fiabilidad de Test-Retest fue alta (κ ponderada = 0,97; IC del 95%: 0,95 a 0,99). La confiabilidad entre los padres y profesionales entre 39 niños fue moderada (ponderada κ = 0,51; IC del 95%: 0,39 a 0,63). INTERPRETACIÓN: El VFCS se ha construido de manera adecuada y proporciona un sistema confiable para clasificar las habilidades visuales de los niños con PC, tanto en el ámbito clínico como en el de investigación.


SISTEMA DE CLASSIFICAÇÃO DA FUNÇÃO VISUAL PARA CRIANÇAS COM PARALISIA CEREBRAL: DESENVOLVIMENTO E VALIDAÇÃO: OBJETIVO: Desenvolver e validar o Sistema de Classificação da Função Visual (SCFV), que foi criado para classificar como crianças com paralisia cerebral (PC) usam capacidades visuais na vida diária. MÉTODO: O processo de desenvolvimento e validação do SCFV envolve quatro fases: (1) rascunho dos cinco níveis a partir da análise da literatura e experiência clínica; (2) validação de construtos e revisão dos níveis de significância dos conceitos, usando processo nominal de grupos; (3) refinamento por meio de levantamento Delphi internacional; (4) avaliação da confiabilidade inter-examinadores entre profissionais e cuidadores, e confiabilidade teste-reteste. RESULTADOS: Cinco grupos nominais envolveram 29 participantes; 65 pessoas completaram a primeira rodada e 51 a segunda rodada do levantamento Delphi. A validade de constructo foi demonstrada em um grupo de especialistas, e a validade externa por meio de vários interessados, com envolvimento de pacientes e famílias para assegurar a significância do conceito. As discussões continuaram até que fosse atingido consenso sobre o constructo e o conteúdo dos cinco níveis. Os participantes no estudo de confiabilidade incluíram 29 profissionais, 39 pais e uma amostra total de 160 crianças com PC (média de idade [DP] 6a 6m [3a 4m]; mediana 5a 7m, variação 1-19a). A confiabilidade inter-examinadores absoluta entre profissionais foi 86% (κ ponderado=0,88; intervalo de confiança [IC] a 95% 0,83-0,93). A confiabilidade teste-reteste foi alta (κ ponderado =0,97; IC 95% 0,95-0,99). A confiabilidade inter-examinadores pais-profissionais em 39 crianças foi moderada (κ ponderado =0,51; IC 95% 0,39-0,63). INTERPRETAÇÃO: O SCFV foi elaborado apropriadamente e é um sistema confiável para classificar as capacidades visuais de crianças com PC em ambientes clínicos e acadêmicos.


Assuntos
Atividades Cotidianas , Paralisia Cerebral/fisiopatologia , Índice de Gravidade de Doença , Transtornos da Visão/fisiopatologia , Adolescente , Adulto , Paralisia Cerebral/complicações , Criança , Pré-Escolar , Técnica Delphi , Feminino , Humanos , Lactente , Masculino , Reprodutibilidade dos Testes , Transtornos da Visão/classificação , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologia , Adulto Jovem
9.
Neurol Sci ; 41(8): 2193-2200, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32166471

RESUMO

Cerebral amyloid angiopathy (CAA) is one of the major types of cerebral small vessel disease, and a leading cause of spontaneous intracerebral hemorrhage and cognitive decline in elderly patients. Although increasingly detected, a number of aspects including the pathophysiology, the clinical and neuroradiological phenotype, and the disease course are still under investigation. The incomplete knowledge of the disease limits the implementation of evidence-based guidelines on patient's clinical management and the development of treatments able to prevent or reduce disease progression. The SENECA (SEarchiNg biomarkErs of Cerebral Angiopathy) project is the first Italian multicenter cohort study aimed at better defining the disease natural history and identifying clinical and neuroradiological markers of disease progression. By a multidisciplinary approach and the collection of a large and well-phenotyped series and biorepository of CAA patients, the study is ultimately expected to improve the diagnosis and the knowledge of CAA pathophysiological mechanisms.


Assuntos
Angiopatia Amiloide Cerebral , Idoso , Angiopatia Amiloide Cerebral/complicações , Angiopatia Amiloide Cerebral/diagnóstico por imagem , Angiopatia Amiloide Cerebral/terapia , Hemorragia Cerebral , Estudos de Coortes , Humanos , Itália , Imageamento por Ressonância Magnética , Fenótipo
10.
Childs Nerv Syst ; 36(5): 911-917, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32140777

RESUMO

BACKGROUND: Vision is an adaptive function and should be considered a prerequisite for neurodevelopment because it permits the organization and the comprehension of the sensory data collected by the visual system during daily life. For this reason, the influence of visual functions on neuromotor, cognitive, and emotional development has been investigated by several studies that have highlighted how visual functions can drive the organization and maturation of human behavior. Recent studies on animals and human models have indicated that visual functions mature gradually during post-natal life, and its development is closely linked to environment and experience. DISCUSSION: The role of vision in early brain development and some of the neuroplasticity mechanisms that have been described in the presence of cerebral damage during childhood are analyzed in this review, according to a neurorehabilitation prospective.


Assuntos
Lesões Encefálicas , Neurociências , Animais , Humanos , Estudos Prospectivos , Visão Ocular
11.
Int J Mol Sci ; 21(10)2020 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-32414028

RESUMO

Cerebral amyloid angiopathy (CAA), one of the main types of cerebral small vessel disease, is a major cause of spontaneous intracerebral haemorrhage and an important contributor to cognitive decline in elderly patients. Despite the number of experimental in vitro studies and animal models, the pathophysiology of CAA is still largely unknown. Although several pathogenic mechanisms including an unbalance between production and clearance of amyloid beta (Aß) protein as well as 'the prion hypothesis' have been invoked as possible disease triggers, they do not explain completely the disease pathogenesis. This incomplete disease knowledge limits the implementation of treatments able to prevent or halt the clinical progression. The continuous increase of CAA patients makes imperative the development of suitable experimental in vitro or animal models to identify disease biomarkers and new pharmacological treatments that could be administered in the early disease stages to prevent irreversible changes and disease progression.


Assuntos
Peptídeos beta-Amiloides/genética , Angiopatia Amiloide Cerebral/genética , Doenças de Pequenos Vasos Cerebrais/genética , Disfunção Cognitiva/genética , Animais , Biomarcadores/sangue , Angiopatia Amiloide Cerebral/sangue , Angiopatia Amiloide Cerebral/patologia , Hemorragia Cerebral/genética , Hemorragia Cerebral/patologia , Doenças de Pequenos Vasos Cerebrais/sangue , Doenças de Pequenos Vasos Cerebrais/patologia , Disfunção Cognitiva/sangue , Disfunção Cognitiva/patologia , Progressão da Doença , Humanos , Modelos Animais , Proteínas Priônicas/genética
12.
Int J Mol Sci ; 21(16)2020 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-32796702

RESUMO

The pathophysiological mechanisms of Moyamoya angiopathy (MA), which is a rare cerebrovascular condition characterized by recurrent ischemic/hemorrhagic strokes, are still largely unknown. An imbalance of vasculogenic/angiogenic mechanisms has been proposed as one possible disease aspect. Circulating endothelial progenitor cells (cEPCs) have been hypothesized to contribute to vascular remodeling of MA, but it remains unclear whether they might be considered a disease effect or have a role in disease pathogenesis. The aim of the present study was to provide a morphological, phenotypical, and functional characterization of the cEPCs from MA patients to uncover their role in the disease pathophysiology. cEPCs were identified from whole blood as CD45dimCD34+CD133+ mononuclear cells. Morphological, biochemical, and functional assays were performed to characterize cEPCs. A significant reduced level of cEPCs was found in blood samples collected from a homogeneous group of adult (mean age 46.86 ± 11.7; 86.36% females), Caucasian, non-operated MA patients with respect to healthy donors (HD; p = 0.032). Since no difference in cEPC characteristics and functionality was observed between MA patients and HD, a defective recruitment mechanism could be involved in the disease pathophysiology. Collectively, our results suggest that cEPC level more than endothelial progenitor cell (EPC) functionality seems to be a potential marker of MA. The validation of our results on a larger population and the correlation with clinical data as well as the use of more complex cellular model could help our understanding of EPC role in MA pathophysiology.


Assuntos
Células Endoteliais/patologia , Leucócitos Mononucleares/patologia , Doença de Moyamoya/fisiopatologia , Remodelação Vascular , Adulto , Biomarcadores/sangue , Contagem de Células , Criança , Citocinas/metabolismo , Feminino , Regulação da Expressão Gênica , Células Endoteliais da Veia Umbilical Humana/metabolismo , Humanos , Masculino , Doença de Moyamoya/sangue , Doença de Moyamoya/genética , Neovascularização Fisiológica , Comunicação Parácrina , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Remodelação Vascular/genética
13.
Int J Mol Sci ; 20(7)2019 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-30970594

RESUMO

The cell microenvironment plays a pivotal role in mediating cell adhesion, survival, and proliferation in physiological and pathological states. The relevance of extracellular matrix (ECM) proteins in cell fate control is an important issue to take into consideration for both tissue engineering and cell biology studies. The glycosylation of ECM proteins remains, however, largely unexplored. In order to investigate the physio-pathological effects of differential ECM glycosylation, the design of affordable chemoselective methods for ECM components glycosylation is desirable. We will describe a new chemoselective glycosylation approach exploitable in aqueous media and on non-protected substrates, allowing rapid access to glyco-functionalized biomaterials.


Assuntos
Materiais Biocompatíveis/metabolismo , Técnicas de Cultura de Células/métodos , Proteínas da Matriz Extracelular/metabolismo , Materiais Biocompatíveis/química , Adesão Celular/efeitos dos fármacos , Linhagem Celular Tumoral , Proliferação de Células , Sobrevivência Celular/efeitos dos fármacos , Colágeno/química , Colágeno/farmacologia , Glicosilação , Humanos
15.
Exp Brain Res ; 235(7): 2039-2047, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28352948

RESUMO

Development of the motor system lags behind that of the visual system and might delay some visual properties more closely linked to action. We measured the developmental trajectory of the discrimination of object size from observation of the biological motion of a grasping action in egocentric and allocentric viewpoints (observing action of others or self), in children and adolescents from 5 to 18 years of age. Children of 5-7 years of age performed the task at chance, indicating a delayed ability to understand the goal of the action. We found a progressive improvement in the ability of discrimination from 9 to 18 years, which parallels the development of fine motor control. Only after 9 years of age did we observe an advantage for the egocentric view, as previously reported for adults. Given that visual and haptic sensitivity of size discrimination, as well as biological motion, are mature in early adolescence, we interpret our results as reflecting immaturity of the influence of the motor system on visual perception.


Assuntos
Envelhecimento/fisiologia , Desenvolvimento Infantil/fisiologia , Retroalimentação Sensorial/fisiologia , Força da Mão/fisiologia , Desempenho Psicomotor/fisiologia , Percepção Visual/fisiologia , Adolescente , Criança , Pré-Escolar , Discriminação Psicológica , Feminino , Humanos , Masculino , Estimulação Luminosa , Tempo de Reação/fisiologia
16.
Dev Med Child Neurol ; 58(9): 957-64, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27061508

RESUMO

AIM: This study was conducted to develop and validate a new self-report questionnaire for measuring quality of life (QoL), at school age, in children with a very low birthweight (VLBW). METHOD: Through a focus group approach, children were involved directly in defining the questionnaire items, which were presented as illustrations rather than written questions. This preliminary validation of the questionnaire was conducted in 152 participants with VLBW (aged 7-11y) randomly selected from the five participating Italian centres. The questionnaire was completed by children and parents separately; data on children's demographic and medical history, and intellectual, adaptive, and behavioural functioning were collected using standardized scales. All the children also completed the Paediatric Quality of Life Inventory (PedsQL), another Italian-language measure of QoL in children. RESULTS: Our questionnaire was readily accepted and understood, and quick to complete. The Cronbach's alpha value showed it to be a reliable instrument. The child-compiled version correlated well with the PedsQL, whereas no correlations emerged with the other scales used, IQ, or degree of impairment. Conversely, these variables correlated significantly with the parent-compiled version. Children's and parents' answers were divergent on practically all the items. INTERPRETATION: The results confirm the validity of the new instrument and highlight a poor overlap between parents' and children's perspectives.


Assuntos
Recém-Nascido de muito Baixo Peso/psicologia , Medidas de Resultados Relatados pelo Paciente , Qualidade de Vida/psicologia , Autoavaliação (Psicologia) , Inquéritos e Questionários , Criança , Feminino , Humanos , Masculino , Psicometria , Reprodutibilidade dos Testes
17.
Res Dev Disabil ; 149: 104733, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38663331

RESUMO

Developmental dyscalculia (DD) is a specific learning disability which prevents children from acquiring adequate numerical and arithmetical competences. We investigated whether difficulties in children with DD spread beyond the numerical domain and impact also their ability to perceive time. A group of 37 children/adolescent with and without DD were tested with an auditory categorization task measuring time perception thresholds in the sub-second (0.25-1 s) and supra-second (0.75-3 s) ranges. Results showed that auditory time perception was strongly impaired in children with DD at both time scales. The impairment remained even when age, non-verbal reasoning, and gender were regressed out. Overall, our results show that the difficulties of DD can affect magnitudes other than numerical and contribute to the increasing evidence that frames dyscalculia as a disorder affecting multiple neurocognitive and perceptual systems.


Assuntos
Percepção Auditiva , Discalculia , Percepção do Tempo , Humanos , Discalculia/fisiopatologia , Discalculia/psicologia , Feminino , Masculino , Criança , Percepção Auditiva/fisiologia , Adolescente , Estudos de Casos e Controles
18.
J Pediatr ; 163(6): 1570-1577.e6, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24054431

RESUMO

OBJECTIVE: To evaluate safety and efficacy of oral propranolol administration in preterm newborns affected by an early phase of retinopathy of prematurity (ROP). STUDY DESIGN: Fifty-two preterm newborns with Stage 2 ROP were randomized to receive oral propranolol (0.25 or 0.5 mg/kg/6 hours) added to standard treatment or standard treatment alone. To evaluate safety of the treatment, hemodynamic and respiratory variables were continuously monitored, and blood samples were collected weekly to check for renal, liver, and metabolic balance. To evaluate efficacy of the treatment, the progression of the disease (number of laser treatments, number of bevacizumab treatments, and incidence of retinal detachment) was evaluated by serial ophthalmologic examinations, and plasma soluble E-selectin levels were measured weekly. RESULTS: Newborns treated with propranolol showed less progression to Stage 3 (risk ratio 0.52; 95% CI 0.47-0.58, relative reduction of risk 48%) or Stage 3 plus (relative risk 0.42 95% CI 0.31-0.58, relative reduction of risk 58%). The infants required fewer laser treatments and less need for rescue treatment with intravitreal bevacizumab (relative risk 0.48; 95% CI 0.29-0.79, relative reduction of risk 52 %), a 100% relative reduction of risk for progression to Stage 4. They also had significantly lower plasma soluble E-selectin levels. However, 5 of the 26 newborns treated with propranolol had serious adverse effects (hypotension, bradycardia), in conjunction with episodes of sepsis, anesthesia induction, or tracheal stimulation. CONCLUSION: This pilot study suggests that the administration of oral propranolol is effective in counteracting the progression of ROP but that safety is a concern.


Assuntos
Antagonistas Adrenérgicos beta/uso terapêutico , Propranolol/uso terapêutico , Retinopatia da Prematuridade/tratamento farmacológico , Antagonistas Adrenérgicos beta/efeitos adversos , Feminino , Humanos , Recém-Nascido Prematuro , Masculino , Projetos Piloto , Propranolol/efeitos adversos , Fatores de Risco , Método Simples-Cego
19.
BMC Pediatr ; 12: 144, 2012 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-22950861

RESUMO

BACKGROUND: Despite progresses in neonatal care, the mortality and the incidence of neuro-motor disability after perinatal asphyxia have failed to show substantial improvements. In countries with a high level of perinatal care, the incidence of asphyxia responsible for moderate or severe encephalopathy is still 2-3 per 1000 term newborns. Recent trials have demonstrated that moderate hypothermia, started within 6 hours after birth and protracted for 72 hours, can significantly improve survival and reduce neurologic impairment in neonates with hypoxic-ischemic encephalopathy. It is not currently known whether neuroprotective drugs can further improve the beneficial effects of hypothermia. Topiramate has been proven to reduce brain injury in animal models of neonatal hypoxic ischemic encephalopathy. However, the association of mild hypothermia and topiramate treatment has never been studied in human newborns. The objective of this research project is to evaluate, through a multicenter randomized controlled trial, whether the efficacy of moderate hypothermia can be increased by concomitant topiramate treatment. METHODS/DESIGN: Term newborns (gestational age ≥ 36 weeks and birth weight ≥ 1800 g) with precocious metabolic, clinical and electroencephalographic (EEG) signs of hypoxic-ischemic encephalopathy will be randomized, according to their EEG pattern, to receive topiramate added to standard treatment with moderate hypothermia or standard treatment alone. Topiramate will be administered at 10 mg/kg once a day for the first 3 days of life. Topiramate concentrations will be measured on serial dried blood spots. 64 participants will be recruited in the study. To evaluate the safety of topiramate administration, cardiac and respiratory parameters will be continuously monitored. Blood samplings will be performed to check renal, liver and metabolic balance. To evaluate the efficacy of topiramate, the neurologic outcome of enrolled newborns will be evaluated by serial neurologic and neuroradiologic examinations. Visual function will be evaluated by means of behavioural standardized tests. DISCUSSION: This pilot study will explore the possible therapeutic role of topiramate in combination with moderate hypothermia. Any favourable results of this research might open new perspectives about the reduction of cerebral damage in asphyxiated newborns.


Assuntos
Frutose/análogos & derivados , Hipotermia Induzida , Hipóxia-Isquemia Encefálica/terapia , Fármacos Neuroprotetores/uso terapêutico , Terapia Combinada , Frutose/efeitos adversos , Frutose/uso terapêutico , Humanos , Recém-Nascido , Fármacos Neuroprotetores/efeitos adversos , Topiramato
20.
Children (Basel) ; 9(7)2022 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-35884039

RESUMO

Spatial representation is a crucial skill for everyday interaction with the environment. Different factors seem to influence spatial perception, such as body movements and vision. However, it is still unknown if motor impairment affects the building of simple spatial perception. To investigate this point, we tested hemiplegic children with (HV) and without visual field (H) disorders in an auditory and visual-spatial localization and pitch discrimination task. Fifteen hemiplegic children (nine H and six HV) and twenty with typical development took part in the experiment. The tasks consisted in listening to a sound coming from a series of speakers positioned at the front or back of the subject. In one condition, subjects were asked to discriminate the pitch, while in the other, subjects had to localize the position of the sound. We also replicated the spatial task in a visual modality. Both groups of hemiplegic children performed worse in the auditory spatial localization task compared with the control, while no difference was found in the pitch discrimination task. For the visual-spatial localization task, only HV children differed from the two other groups. These results suggest that movement is important for the development of auditory spatial representation.

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