A5017960430- Neonatal and fetal brain pathology
- Cerebral Palsy and Movement Disorders
- Advanced Neuroimaging Techniques and Applications
- Infant Development and Preterm Care
- Botulinum Toxin and Related Neurological Disorders
- Family and Disability Support Research
- Language Development and Disorders
- Neonatal Respiratory Health Research
- Neurobiology of Language and Bilingualism
- Transcranial Magnetic Stimulation Studies
- Epilepsy research and treatment
- Fetal and Pediatric Neurological Disorders
- Ultrasound in Clinical Applications
- Traumatic Brain Injury Research
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Stroke Rehabilitation and Recovery
- Advanced MRI Techniques and Applications
- Thermal Regulation in Medicine
- Functional Brain Connectivity Studies
- Cerebrospinal fluid and hydrocephalus
- Mitochondrial Function and Pathology
- Congenital Diaphragmatic Hernia Studies
- Assistive Technology in Communication and Mobility
- Sleep and Wakefulness Research
Fondazione Stella Maris
2016-2025
Meyer Children's Hospital
2024-2025
University of Florence
2025
University of Pisa
2009-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2014-2024
The University of Queensland
2016-2022
Griffith University
2022
Australian e-Health Research Centre
2022
Commonwealth Scientific and Industrial Research Organisation
2016-2022
Universidade Estadual de Maringá
2018
<h3>Objective:</h3> We aimed to delineate the clinical and genetic spectrum of ATP1A3-related disorders recognition a potential genotype-phenotype correlation. <h3>Methods:</h3> identified 16 new patients with alternating hemiplegia childhood (AHC) 3 rapid-onset dystonia-parkinsonism (RDP) included these as well molecular findings all previously reported 164 mutation-positive AHC RDP in our analyses. <h3>Results:</h3> Major characteristics shared common by comprise strikingly asymmetric,...
To describe the development of a novel rating scale for classification brain structural magnetic resonance imaging (MRI) in children with cerebral palsy (CP) and to assess its interrater intrarater reliability.The consists three sections. Section 1 contains descriptive information about patient MRI. 2 graphical template hemispheres onto which lesion is transposed. 3 scoring system quantitative analysis characteristics, grouped into different global scores subscores that separately side,...
Cerebral palsy (CP) is a term to describe the spectrum of disorders impaired motor and sensory function caused by brain lesion occurring early during development. Diffusion MRI tractography have been shown be useful in study white matter (WM) microstructure tracts likely impacted static lesion. The purpose this was identify WM pathways with altered connectivity children unilateral CP periventricular lesions using whole-brain approach. Data 50 (5–17 years; manual ability classification system...
Objectives Congenital hemiplegia is the most common form of cerebral palsy (CP). Children with unilateral CP show signs upper limb asymmetry by 8 months corrected age (ca) but are frequently not referred to therapy until after 12 ca. This study compares efficacy infant-friendly modified constraint-induced movement (Baby mCIMT) infant friendly bimanual BIM) on limb, cognitive and neuroplasticity outcomes in a multisite randomised comparison trial. Methods analysis 150 infants (75 each group),...
Purpose: To investigate the feasibility of a study based on treatment with topiramate (TPM) added to moderate hypothermia in newborns hypoxic ischemic encephalopathy (HIE).Materials and methods: Multicenter randomized controlled trial. Term precocious metabolic, clinical electroencephalographic (EEG) signs HIE were selected according their amplified integrated EEG pattern receive either TPM (10 mg/kg once day for first three days life) plus or alone. Safety was assessed by monitoring...
Preterm birth causes significant disruption in ongoing brain development, frequently resulting adverse neurodevelopmental outcomes. Brain imaging using diffusion MRI may provide valuable insight into microstructural properties of the developing brain. The aim this study was to establish whether recently introduced fixel-based analysis method, with its associated measures fibre density (FD), bundle cross-section (FC), and (FDC), is suitable for investigation preterm infant at term equivalent...
The aim of this study was to explore the predictive value quantitative assessment hand movements in 3-month-old infants after neonatal stroke.Thirteen born at term (five females, eight males; mean gestational age 39.4wks, SD 1.19, range 37-41wks; birthweight 3240g, 203, 2900-3570g) with arterial ischaemic cerebral infarction, and 13 healthy (mean 39.1wks, 37-41wks, 1.26; 3190g, 259, 2680-3490g) were enrolled study. absolute frequency asymmetry global opening closing, wrist segmental...
We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51.We studied 6 familial 20 simplex CMM cases. Each patient had standardized neurologic assessment. Analysis RAD51 coding regions included Sanger sequencing quantitative method allowing detection micro rearrangements. then compared frequency rare variants predicted to be pathogenic by either PolyPhen-2 or SIFT algorithm our population 4,300 controls...
To provide first evidence of construct validity a semi-quantitative scale for brain structural MRI (sqMRI scale) in children with unilateral cerebral palsy (UCP) secondary to periventricular white matter (PWM) lesions, by examining the relationship hand sensorimotor function and whole connectivity.Cross-sectional study 50 UCP due PWM lesions using 3 T (MRI), diffusion assessment function. We explored lobar, hemispheric global scores on sqMRI scale, fractional anisotropy (FA), as measure...
Abstract Background Acquired homonymous visual field defects (HVFDs) result in significant disability, reducing quality of life. Spontaneous recovery occurs within the first months, then likelihood vision decreases, making rehabilitation necessary. HVFDs is typically lengthy and intensive, done on an outpatient basis, hardly compatible with return to everyday Telerehabilitation represents option for continuing therapy chronic phase disease, offering long-term support after hospital...
Cochlear implant (CI) is a well-established treatment for adults with sensorineural hearing loss and without benefit from aids. The Italian guidelines date back 15 years; given the expansion of indications CI, including single side deafness asymmetrical loss, it became necessary to establish updated guidelines. Thirteen experts 2 patient representatives selected key questions drew up recommendations. document was developed following GRADE methodology. methodological team Mario Negri...
The diagnostic and prognostic potential of brain MR imaging before term-equivalent age is limited until valid scoring systems are available. This study aimed to validate an system injury impaired growth for use at 29 35 weeks postmenstrual in infants born <31 gestational age.Eighty-three a prospective cohort underwent early 3T between weeks' (mean, 32+2 ± 1+3 weeks; 49 males, median gestation 28+4 range, 23+6-30+6 mean birthweight, 1068 312 g). Seventy-seven had second scan 40+6 weeks)....
Autism Spectrum Disorder (ASD) and Childhood Apraxia of Speech (CAS) are developmental disorders with distinct diagnostic criteria different epidemiology. However, a common genetic background as well overlapping clinical features between ASD CAS have been recently reported. To date, brain structural language-related abnormalities detected in both the conditions, but no study directly compared young children ASD, typical development (TD). In current work, we aim: (i) to test hypothesis that...
To systematically explore the relationship between type and severity of brain lesion on Magnetic Resonance Imaging (MRI) visual function in a large cohort children with periventricular leukomalacia (PVL). 94 bilateral cerebral palsy (CP) history PVL were recruited at Stella Maris Scientific Institute Pisa (Italy). We included data participants (72) least one MRI after age three years an evaluation including fixation, following, saccades, nystagmus, acuity, field, stereopsis color perception....
Childhood apraxia of speech (CAS) is a motor disorder often co-occurring with language impairment and complex neurodevelopmental disorders. A cohort 106 children CAS associated to other disorders underwent multidimensional investigation profiles, chromosome microarray analysis structural brain magnetic resonance (MR). Our aim was compare the clinical profiles only those who, in addition impairment, had Expressive grammar impaired majority sample context similar alterations speech, typical...
Abstract Researchers in the field of child neurology are increasingly looking to supplement clinical trials motor rehabilitation with neuroimaging order better understand relationship between behavioural training, brain changes, and improvements. Randomised controlled typically accompanied by sample size calculations detect improvements but, despite large cost neuroimaging, not equivalent for concurrently acquired imaging measures changes response intervention. To aid this regard, a power...