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Marina di Pisa, Italy

Einspieler C.,Medical University of Graz | Yang H.,Fudan University | Bartl-Pokorny K.D.,Medical University of Graz | Chi X.,Nanjing Medical University | And 9 more authors.
Early Human Development | Year: 2015

Infants with normal fidgety movements at 3 to 5. months after term are very likely to show neurologically normal development, while the absence of fidgety movements is an early marker for an adverse neurological outcome, mainly cerebral palsy (CP). The clinical significance of so-called sporadic fidgety movements (i.e., fidgety movements occur isolated in a few body parts and are of 1- to 3-second-duration) is not yet known. Aims: Our objective was to determine whether infants who had developed CP and had sporadic fidgety movements have a better outcome than infants who did not have fidgety movements. Study design: Longitudinal study. Retrospective analysis of prospectively collected data. Subjects: 61 infants who developed CP (46 male, 15 female; 29 infants born preterm; videoed for the assessment of movements and postures at 9 to 16. weeks post-term age). Outcome measures: The Gross Motor Function Classification System (GMFCS) was applied at 3 to 5. years of age. Results: There was no difference between children diagnosed with CP who had sporadic fidgety movements at 9 to 16. weeks post-term age (n. =. 9) and those who never developed fidgety movements (n. =. 50) with regard to their functional mobility and activity limitation at 3 to 5. years of age. One infant had normal FMs and developed unilateral CP, GMFCS Level I; the remaining infant had abnormal FMs and developed bilateral CP, GMFCS Level II. Conclusions: There is no evidence that the occurrence of occasional isolated fidgety bursts indicates a milder type of CP. © 2015. Source

Ferreira M.,Instituto Nacional Saude Ricardo Jorge | Evangelista T.,Servico de Neurologia | Almeida L.S.,Instituto Nacional Saude Ricardo Jorge | Martins J.,Servico de Neurologia | And 6 more authors.
Neuromuscular Disorders | Year: 2011

Diseases affecting mtDNA stability, termed nuclear-mitochondrial intergenomic communication disorders, are caused by a primary nuclear gene defect resulting in multiple mtDNA deletions.The aim of this study was to estimate the frequency of known etiologies and the spectrum of mutations in a cohort of 21 patients harboring multiple mtDNA deletions in skeletal muscle.We showed that 10 cases (48%) display mutations in POLG, including eight previously reported variants and two novel mutations (namely, p.Trp585X and p.Arg1081Gln). The novel mutations affect evolutionary conserved residues and were absent in a large set of control chromosomes. These findings expand the array of mutations associated with multiple rearranged mtDNA attributed to mutations in POLG. The relatively high diagnostic yield (about one in two cases) supports the notion that it is recommended to test POLG routinely in diagnostic laboratories whenever multiple mtDNA deletions are present, regardless of the age of onset of patients and their clinical phenotype. © 2011 Elsevier B.V. Source

Srinivasaraghavan R.,Jawaharlal Institute of Postgraduate Medical Education & Research | Krishnamurthy S.,Jawaharlal Institute of Postgraduate Medical Education & Research | Chandar R.,Jawaharlal Institute of Postgraduate Medical Education & Research | Cassandrini D.,IRCCS Fondazione Stella Maris | And 3 more authors.
Pediatric Dermatology | Year: 2014

Chanarin-Dorfman syndrome (CDS) is a rare nonlysosomal neutral lipid storage disorder characterized by congenital ichthyosis, lipid vacuoles in leukocytes (Jordan's anomaly), and hepatomegaly. The authors herein report an 18-month-old boy with ichthyosis and hepatomegaly diagnosed with CDS and confirmed to have a novel c.506-3C>G mutation in the ABHD5/CGI-58 gene. Our case also illustrates that retinoids such as acitretin could be useful in the treatment of skin manifestations in CDS even in the presence of liver derangement. © 2013 Wiley Periodicals, Inc. Source

Sgandurra G.,IRCCS Fondazione Stella Maris | Bartalena L.,University of Pisa | Cioni G.,University of Pisa | Greisen G.,Copenhagen University | And 7 more authors.
BMC Pediatrics | Year: 2015

Background: Preterm infants are at risk for neurodevelopmental disorders, including motor, cognitive or behavioural problems, which may potentially be modified by early intervention. The EU CareToy Project Consortium ( http://www.caretoy.eu ) has developed a new modular system for intensive, individualized, home-based and family-centred early intervention, managed remotely by rehabilitation staff. A randomised controlled trial (RCT) has been designed to evaluate the efficacy of CareToy training in a first sample of low-risk preterm infants. Methods/Design: The trial, randomised, multi-center, evaluator-blinded, parallel group controlled, is designed according to CONSORT Statement. Eligible subjects are infants born preterm without major complications, aged 3-9 months of corrected age with specific gross-motor abilities defined by Ages & Stages Questionnaire scores. Recruited infants, whose parents will sign a written informed consent for participation, will be randomized in CareToy training and control groups at baseline (T0). CareToy group will perform four weeks of personalized activities with the CareToy system, customized by the rehabilitation staff. The control group will continue standard care. Infant Motor Profile Scale is the primary outcome measure and a total sample size of 40 infants has been established. Bayley-Cognitive subscale, Alberta Infants Motor Scale and Teller Acuity Cards are secondary outcome measures. All measurements will be performed at T0 and at the end of training/control period (T1). For ethical reasons, after this first phase infants enrolled in the control group will perform the CareToy training, while the training group will continue standard care. At the end of open phase (T2) all infants will be assessed as at T1. Further assessment will be performed at 18 months corrected age (T3) to evaluate the long-term effects on neurodevelopmental outcome. Caregivers and rehabilitation staff will not be blinded whereas all the clinical assessments will be performed, videotaped and scored by blind assessors. The trial is ongoing and it is expected to be completed by April 2015. Discussion: This paper describes RCT methodology to evaluate CareToy as a new tool for early intervention in preterm infants, first contribution to test this new type of system. It presents background, hypotheses, outcome measures and trial methodology. Trial registration: ClinicalTrials.gov: NCT01990183 . EU grant ICT-2011.5.1-287932. © 2014 Sgandurra et al.; licensee BioMed Central Ltd. Source

Cioni G.,IRCCS Fondazione Stella Maris | Purpura G.,IRCCS Fondazione Stella Maris | Tinelli F.,IRCCS Fondazione Stella Maris | Tinelli F.,University of Pisa
Multisensory Research | Year: 2015

Results obtained in both animal models and hemianopic patients indicate that sound, spatially and temporally coincident with a visual stimulus, can improve visual perception in the blind hemifield, probably due to activation of multisensory neurons, mainly located in the superior colliculus. In view of this evidence, a new rehabilitation approach, based on audiovisual stimulation of visual field, has been proposed, and applied in adults with visual field reduction due to unilateral brain lesions. So far, results have been very encouraging, with improvements in visual search abilities. Based on these findings, we have investigated the possibility of inducing long-lasting amelioration also in children with a visual deficit due to acquired brain lesions. Our results suggest that, in the absence of spontaneous recovery, audiovisual training can induce activation of visual responsiveness of the oculomotor system also in children and adolescents with acquired lesions and confirm the putatively important role of the superior colliculus (SC) in this process. © Copyright 2015 by Koninklijke Brill NV, Leiden, The Netherlands. Source

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