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Delirium in acute stroke: A prospective, cross-sectional, cohort study.
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| 2 |
Cutaneous squamous cell carcinoma in patients with chronic lymphocytic leukemia: a systematic review of the literature
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| 3 |
Semantic Memory as an Early Cognitive Marker of Alzheimer's Disease: Role of Category and Phonological Verbal Fluency Tasks
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Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant
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Early developmental trajectories of expressive vocabulary and gesture production in a longitudinal cohort of Italian infants at high-risk for Autism Spectrum Disorder
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Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life
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Battaglia, D. (orcid:0000-0003-0491-4021); Chieffo, D.; Lucibello, S.; Marini, C.; Sibilia, V.; Mei, D.; Darra, F.; Offredi, F.; Fontana, E.; Specchio, N.; Cappelletti, S.; Granata, T.; Ragona, F.; Patrini, M.; Baglietto, M. G.; Prato, G.; Ferrari, A.; Vigevano, F.; Mercuri, E. (orcid:0000-0002-9851-5365); Bernardina, B. D.; Guerrini, R.; Dravet, C.; Guzzetta, F.. - : Elsevier B.V., 2021
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Abstract:
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.
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Keyword:
Developmental decline; Settore MED/39 - NEUROPSICHIATRIA INFANTILE
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URL: http://hdl.handle.net/10807/197182
https://doi.org/10.1016/j.braindev.2020.10.004
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| 7 |
Clinical presentation of strokes confined to the insula: a systematic review of literature
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Vincenzo Di Stefano, Maria Vittoria De Angelis, Chiara Montemitro, Mirella Russo, Claudia Carrarini, Massimo di Giannantonio, Filippo Brighina, Marco Onofrj, David J. Werring, Robert Simister. - : country:IT, 2021
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| 8 |
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
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| 9 |
Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review
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| 10 |
Narrative medicine and medical narratives: the case of Marfan syndrome
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| 12 |
Sotagliflozin in Patients with Diabetes and Chronic Kidney Disease
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| 13 |
Does Cue Focality Modulate Age-related Performance in Prospective Memory? An fMRI Investigation
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| 15 |
Intervening on the Developmental Course of Children With Borderline Intellectual Functioning With a Multimodal Intervention: Results From a Randomized Controlled Trial
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European citizens' perspectives on direct-to-consumer genetic testing: an updated systematic review
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| 18 |
Defining language disorders in children and adolescents with Noonan Syndrome
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| 19 |
Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study
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| 20 |
Naming famous people through face and voice: a normative study
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