A5070234532- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Neurological diseases and metabolism
- Autism Spectrum Disorder Research
- Educational and Psychological Assessments
- Reading and Literacy Development
- Children's Physical and Motor Development
- RNA regulation and disease
- Hereditary Neurological Disorders
- Neurological disorders and treatments
- Child and Animal Learning Development
- Infant Development and Preterm Care
- Glycogen Storage Diseases and Myoclonus
- Cerebral Palsy and Movement Disorders
- Cognitive Abilities and Testing
- Neurogenetic and Muscular Disorders Research
- Genetics and Neurodevelopmental Disorders
- Infectious Encephalopathies and Encephalitis
- Neonatal and fetal brain pathology
- Endoplasmic Reticulum Stress and Disease
- Educational Innovations and Challenges
- Assistive Technology in Communication and Mobility
- Early Childhood Education and Development
- Family and Disability Support Research
Fondazione Stella Maris
2017-2025
Federico II University Hospital
2012-2021
University of Oxford
2017-2021
Istituti di Ricovero e Cura a Carattere Scientifico
2018-2021
Pediatrics and Genetics
2021
University of Naples Federico II
2014-2015
University of Pisa
2011
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss corticospinal tract function, lower limb spasticity, and weakness. Recent clinical use next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach HSP, but power NGS as first-tier procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential...
Background and purpose Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) cerebellar cognitive‐affective syndrome (CCAS), named SCA48. Methods Molecular screening was performed a cohort 235 unrelated patients adult‐onset, (17) or sporadic (218) ataxia, negative for pathological trinucleotide expansions common SCAs, FRDA FXTAS loci, by using targeted multigene panels whole‐exome sequencing. Bioinformatics...
Children with Special Needs represent a highly heterogeneous group in terms of neurofunctional, behavioral, and socio-cognitive characteristics, but they have common frequent impairment Executive Functions. Educational Robotics is generally dedicated to study the effects constructing programming robots based on children's learning academic achievement. Recently, we found that being engaged progressively more challenging robot planning monitoring (ER-Lab) promotes visual-spatial working...
Specific Learning Disabilities (SLD) are often associated with emotional-behavioral problems. Many studies highlighted a greater psychopathological risk in SLD, describing both internalizing and externalizing The aims of this study were to investigate the phenotype through Child Behavior Checklist (CBCL), evaluate mediating role background cognitive characteristics on relationship between CBCL profile learning impairment children adolescents SLD. One hundred twenty-one SLD subjects (7-18...
Rehabilitation procedures recommended for developmental dyslexia (DD) are still not fully defined, and only few studies directly compare different types of training. This study compared a training (Reading Trainer) working on the reading impairment with one (Run RAN) rapid automatized naming (RAN) impairment, main cognitive deficits associated DD. Two groups DD children (N = 45) equivalent age, sex, full IQ, speed were trained either by Reading Trainer (n 21) or Run RAN 24); both trainings...
AR isoform 2–encoded variant acts as a transcriptional modulator of genomic activity and is target for therapy SBMA.
Educational Robotics (ER) is a new learning approach, known mainly for its effects on scientific academic subjects such as science, technology, engineering and mathematics. Recent studies indicate that ER can also affect cognitive development by improving critical reasoning planning skills. This study aimed to quantify the ability of empower Executive Functions (EF), including control, update, program information, in 5- 6-year-old children attending first grade, crucial evolutionary window...
The term hereditary ataxia (HA) refers to a heterogeneous group of neurological disorders with multiple genetic etiologies and wide spectrum ataxia-dominated phenotypes. Massive gene analysis in next-generation sequencing has entered the HA scenario, broadening our clinical knowledge these conditions. In this study, we employed targeted resequencing panel (TRP) large highly cohort 377 patients diagnosis HA, but no molecular on routine tests. We obtained positive result (genetic diagnosis)...
Clinical manifestations of developmental dyslexia (DD) are greatly variable, suggesting complex underlying mechanisms. It was recently advanced that the characteristics DD in Italian, a language with shallow orthography, influenced by positive history for delay.We explored this hypothesis studying Italian individuals (i) brain representation phonological processing functional magnetic resonance imaging and (ii) correlation between patterns activation presence/absence previous delay.Thirteen...
The vacuolar H
Pre-term spastic diplegia (pSD) due to periventricular leukomalacia is a form of cerebral palsy in which weaknesses executive functions are reported beyond the core visuo-spatial deficits. The study aimed at improving functioning and skills with an evidence-based training focused on working memory children pSD. intervention followed stepped wedge design. 19 pSD (11 female 8 male; age range: 4;1-13;1 years), mild moderate upper limb impairment Verbal Intelligence Quotient (VIQ) >80...
Executive function deficits are documented in many neurodevelopmental disorders and may contribute to clinical complexity or rehabilitation resilience. The present research was primarily aimed at presenting evaluating the feasibility effectiveness of a telerehabilitation program used during pandemic period. MemoRAN (Anastasis), computerised cognitive training improve executive control visual-verbal integration tasks sample 42 children (5–11 years old) with specific learning language...
Developmental Dyslexia is a disorder, highly frequent in the school population, for which recommended rehabilitation procedures are not well defined. This study aimed to automatize reading decoding skills by using an innovative system rehabilitation, based on telerehabilitation method. It requires intensive home-exercise with supervision, web, of clinician. The had three main aims: diffuse knowledge new methods difficulties; verify whether and simplified exercise, targeted automation...