المؤلفون: Guzzetta, Francesco, Conti, Guido, Mercuri, Eugenio

المصدر: Developmental Medicine & Child Neurology. Dec 2011 53(12):1085-1090.

تمت مراجعته من قبل الزملاء: Y

Page Count: 6

الواصفات: Auditory Perception, Cognitive Development, Predictor Variables, Language Skills, Cognitive Ability, Acoustics, Neurological Impairments, Brain Hemisphere Functions, Infants, Screening Tests, Disability Identification, Neonates, Hearing Impairments, Language Impairments

مستخلص: Increasing attention has been devoted to the maturation of sensory processing in the first year of life. While the development of cortical visual function has been thoroughly studied, much less information is available on auditory processing and its early disorders. The aim of this paper is to provide an overview of the assessment techniques for early auditory processing. While otoacoustic emissions and auditory brainstem responses are well-established tools for neonatal screening of hearing loss, there have been less consistent results for neurophysiological assessments of central auditory processing in clinical practice. Early auditory event-related potentials could provide valuable diagnostic information, but their use as a possible clinical screening method is still limited and should be further assessed. Behavioural tests are few and are greatly needed in young infants as they could provide a more easily used tool for detecting the preconditions of early cerebral auditory impairment.

Abstractor: As Provided

المؤلفون: Battaglia, Domenica, Chieffo, Daniela, Lucibello, Simona, Marini, Carla, Sibilia, Valentina, Mei, Davide, Darra, Francesca, Offredi, Francesca, Fontana, Elena, Specchio, Nicola, Cappelletti, Simona, Granata, Tiziana, Ragona, Francesca, Patrini, Mara, Baglietto, Maria G, Prato, Giulia, Ferrari, Annarita, Vigevano, Federico, Mercuri, Eugenio, Bernardina, Bernardo Dalla, Guerrini, Renzo, Dravet, Charlotte, Guzzetta, Francesco

المساهمون: Battaglia, Domenica, Chieffo, Daniela, Lucibello, Simona, Marini, Carla, Sibilia, Valentina, Mei, Davide, Darra, Francesca, Offredi, Francesca, Fontana, Elena, Specchio, Nicola, Cappelletti, Simona, Granata, Tiziana, Ragona, Francesca, Patrini, Mara, Baglietto, Maria G, Prato, Giulia, Ferrari, Annarita, Vigevano, Federico, Mercuri, Eugenio, Bernardina, Bernardo Dalla, Guerrini, Renzo, Dravet, Charlotte, Guzzetta, Francesco

مصطلحات موضوعية: Dravet syndrome, Neurodevelopmental trajectory, Neuropsychological longitudinal study, SCN1A mutation, Visuomotor defects

الوصف: The objective of this study was to identify developmental trajectories of developmental/behavioral phenotypes and possibly their relationship to epilepsy and genotype by analyzing developmental and behavioral features collected prospectively and longitudinally in a cohort of patients with Dravet syndrome (DS).Thirty-four patients from seven Italian tertiary pediatric neurology centers were enrolled in the study. All patients were examined for the SCN1A gene mutation and prospectively assessed from the first years of life with repeated full clinical observations including neurological and developmental examinations. Subjects were found to follow three neurodevelopmental trajectories. In the first group (16 patients), an initial and usually mild decline was observed between the second and the third year of life, specifically concerning visuomotor abilities, later progressing towards global involvement of all abilities. The second group (12 patients) showed an earlier onset of global developmental impairment, progressing towards a generally worse outcome. The third group of only two patients ended up with a normal neurodevelopmental quotient, but with behavioral and linguistic problems. The remaining four patients were not classifiable due to a lack of critical assessments just before developmental decline.The neurodevelopmental trajectories described in this study suggest a differential contribution of neurobiological and genetic factors. The profile of the first group, which included the largest fraction of patients, suggests that in the initial phase of the disease, visuomotor defects might play a major role in determining developmental decline.Early diagnosis of milder cases with initial visuomotor impairment may therefore provide new tools for a more accurate habilitation strategy. (c) 2020 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33478845; info:eu-repo/semantics/altIdentifier/wos/WOS:000617030200009; volume:43; issue:3; firstpage:419; lastpage:430; numberofpages:12; journal:BRAIN & DEVELOPMENT; https://hdl.handle.net/11562/1038770Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099628852

الإتاحة: https://doi.org/10.1016/j.braindev.2020.10.004Test
https://hdl.handle.net/11562/1038770Test

المؤلفون: Guzzetta, Francesco

المصدر: Epilepsia ; volume 52, issue s2, page 35-38 ; ISSN 0013-9580 1528-1167

الوصف: Summary We report an overview on early development of children with Dravet syndrome. After a historical outline of literature data, we refer to an Italian multicentric project, partially still in course. Because in the first year of life development seems impaired in Dravet syndrome as studies on precognitive abilities would show, defects in early development of visual function were detected heralding the subsequent cognitive decline. The delay of cognitive development, due to stagnation rather than a real deterioration, begins after the second year of life, although the age of onset varies. The extreme variability of development phenotype is confirmed and widened including also cognitive decline and severity of different defects of neuropsychological abilities as well as behavioral problems, especially associated with the cognitive decline. Mechanisms underlying neurodevelopment disorders and possible role of genetics are discussed.

الإتاحة: https://doi.org/10.1111/j.1528-1167.2011.02999.xTest

المؤلفون: GUZZETTA, FRANCESCO, CONTI, GUIDO, MERCURI, EUGENIO

المصدر: Developmental Medicine & Child Neurology ; volume 53, issue 12, page 1085-1090 ; ISSN 0012-1622

الإتاحة: https://doi.org/10.1111/j.1469-8749.2011.04084.xTest

المؤلفون: De Rose, Paola, Perrino, Francesca, Lettori, Donatella, Alfieri, Paolo, Cesarini, Laura, Battaglia, Domenica, Ricci, Daniela, Guzzetta, Francesco, Mercuri, Eugenio

المصدر: Epilepsia ; volume 51, issue 7, page 1205-1211 ; ISSN 0013-9580 1528-1167

الوصف: Summary Purpose: The aim of this study was to assess behavioral aspects of visual function and visuoperceptual abilities in patients with Panayiotopoulos syndrome (PS), and their possible associations with clinical and electroencephalography (EEG) findings in order to establish the possible effect of interictal paroxysmal activity on visual performance. Methods: The cohort included 28 patients (14 male and 14 female) of ages ranging between 4 and 15 years. All patients underwent serial videopolygraphic studies and a detailed battery of tests assessing visual abilities, including assessment of acuity, stereopsis, visual fields, and visuoperceptual abilities; tests included the Movement Assessment Battery for Children, the Visuo Motor Integration tests, and evaluation of motion and form coherence threshold. Results: On the assessment of visual function, only 4 of the 28 (15%) had abnormal crowding acuity and one had abnormal stereopsis. On the visuoperceptual assessment, one patient had abnormal results on the Visuo Motor Integration tests, and one on the Movement Assessment Battery for Children, whereas 4 (15%) had abnormal results for form coherence threshold and one for motion threshold. Discussion: Our results suggest that, although most of our patients had focal or diffuse EEG abnormalities involving the occipital regions, abnormalities of visual and visuoperceptual function were relatively uncommon. Age at onset of seizure <5 years and EEG activation to eye closure and during sleep can be considered as factors that slightly increased the risk for developing visual abnormalities. Their presence, however, was not always associated with abnormal visual findings.

الإتاحة: https://doi.org/10.1111/j.1528-1167.2009.02484.xTest

المؤلفون: Ricci, Daniela, Luciano, Rita, Baranello, Giovanni, Veredice, Chiara, Cesarini, Laura, Bianco, Flaviana, Pane, Marika, Gallini, Francesca, Vasco, Gessica, Savarese, Immacolata, Zuppa, Antonio A, Masini, Lucia, Di Rocco, Concezio, Romagnoli, Costantino, Guzzetta, Francesco, Mercuri, Eugenio

مصطلحات موضوعية: Original articles

الوصف: Objective: The aim of this study was to assess visual function in 13 infants with evidence of prenatal post haemorrhagic ventricular dilatation. Design: Infants were assessed at 5, 12 and 24 months using a battery of tests specifically designed to assess various aspects of visual function in infancy. Visual findings were correlated with several variables, including extent of the lesion and presence of epilepsy. Results and conclusions: Abnormalities of visual function were frequent (over 60%) in our cohort at age 2 years, ranging from isolated abnormal ocular movements to severe abnormalities of all the aspects of visual function assessed. The most severe and persistent abnormalities of visual function were found in infants with grade IV intraventricular haemorrhage and shunted hydrocephalus who also had epilepsy in the first year.

وصف الملف: text/html

العلاقة: http://fn.bmj.com/cgi/content/short/92/4/F255Test; http://dx.doi.org/10.1136/adc.2006.101485Test

الإتاحة: https://doi.org/10.1136/adc.2006.101485Test
http://fn.bmj.com/cgi/content/short/92/4/F255Test

المؤلفون: Ricci, Daniela, Luciano, Rita, Baranello, Giovanni, Veredice, Chiara, Cesarini, Laura, Bianco, Flaviana, Pane, Marika, Gallini, Francesca, Vasco, G, Savarese, Immacolata, Zuppa, Antonio, Masini, Lucia, Di Rocco, Concezio, Romagnoli, Costantino, Guzzetta, Francesco, Mercuri, Eugenio

مصطلحات موضوعية: Original articles

الوصف: Objective: The aim of this study was to assess visual function in infants with evidence of prenatal post haemorrhagic ventricular dilatation. Design: Infants were assessed at 5, 12 and 24 months using a battery of tests specifically designed to assess various aspects of visual function in infancy. Visual findings were correlated with several variables, including extent of the lesion and presence of epilepsy. Results and conclusions: Abnormalities of visual function were frequent (over 60%) in our cohort at age 2 years, ranging from isolated abnormal ocular movements to severe abnormalities of all the aspects of visual function assessed. The most severe and persistent abnormalities of visual function were found in infants with grade IV IVH and shunted hydrocephalus who also had epilepsy in the first year.

وصف الملف: text/html

العلاقة: http://fn.bmj.com/cgi/content/short/adc.2006.101485v1Test; http://dx.doi.org/10.1136/adc.2006.101485Test

الإتاحة: https://doi.org/10.1136/adc.2006.101485Test
http://fn.bmj.com/cgi/content/short/adc.2006.101485v1Test

المؤلفون: Randò, Teresa, Baranello, Giovanni, Ricci, Daniela, Guzetta, Andrea, Tinelli, Francesca, Biagioni, Enrico, La, Guiseppe, Epifanio, Roberta, Signorini, Sabrina, Fazzi, Elisa, Mercuri, Eugenio, Cioni, Giovanni, Guzzetta, Francesco

المصدر: Developmental Medicine & Child Neurology ; volume 48, issue 11, page 942-943 ; ISSN 0012-1622 1469-8749

الإتاحة: https://doi.org/10.1111/j.1469-8749.2006.tb01259.xTest

المؤلفون: Randò, Teresa, Baranello, Giovanni, Ricci, Daniela, Guzzetta, Andrea, Tinelli, Francesca, Biagioni, Enrico, La Torre, Giuseppe, Epifanio, Roberta, Signorini, Sabrina, Fazzi, Elisa, Mercuri, Eugenio, Cioni, Giovanni, Guzzetta, Francesco

المصدر: Developmental Medicine & Child Neurology ; volume 47, issue 11, page 760-765 ; ISSN 0012-1622 1469-8749

الوصف: The aim of this study was to evaluate cognitive development at the onset of West syndrome (WS) with regard to electroencephalogram (EEG) patterns and visual function. Twenty‐five patients (14 males, 11 females) at the onset of spasms ( T 0 ) in WS and 2 months later ( T 1 ) underwent a full clinical evaluation, including neuroimaging, cognitive assessment, video‐EEG, and visual function. Mean age of the patients at spasm onset was 5.9 months (SD 2.5; range 2 to 13mo). Cognitive development, assessed with Griffiths Mental Development Scales (GMDS), was generally impaired at T 0 and was significantly related to visual function ( p <0.001) at both T 0 and T 1 In general, there was a specific major impairment in the eye–hand coordination scale of the GMDS which tended to disappear after 2 months in less severe cases. At the onset of spasms, sleep EEG organization seemed to be better related to cognitive abilities than awake hypsarrhythmia. These results support a close link between visual function and cognitive competence in WS and provide additional information to improve the understanding of possible mechanisms underlying cognitive impairment.

الإتاحة: https://doi.org/10.1111/j.1469-8749.2005.tb01074.xTest

المؤلفون: Russo, Luisa, Mariotti, Paolo, Sangiorgi, Eugenio, Giordano, Tiziana, Ricci, Iolanda, Lupi, Francesca, Chiera, Rossella, Guzzetta, Francesco, Neri, Giovanni, Gurrieri, Fiorella

المصدر: The American Journal of Human Genetics ; volume 76, issue 2, page 327-333 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1086/427521Test
https://api.elsevier.com/content/article/PII:S000292970762583X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292970762583X?httpAccept=text/plainTest