Educational Robotics and empowerment of executive cognitive processes: from typical development to special educational needs

This paper describes a new Educational Robotic (ER) approach aimed to empower higher cognitive functions in school-setting. As robot programming requires to mentally plan a complex sequence of actions before the motor act, ER may indeed promote several crucial cognitive processes underlying learning. The steps needed and the mental acts for robot programming may involve Executive Functions (EF), that are complex higher cognitive processes, particularly crucial in the early development, because they are the base for abstraction and logical reasoning, decision-making, sequential thinking, maintaining and updating information in memory and problem-solving. Recent studies attempting to attest with a scientific approach the effect of ER on executive functioning are described. They concern both classroom with typical development or special educational needs and rehabilitation environment for children with developmental disorder. Robotica Educativa e potenziamento dei processi cognitivi esecutivi: dallo sviluppo tipico ai bisogni educativi specialiIl presente lavoro descrive come la Robotica Educativa (RE) possa essere utilizzata per potenziare alcune funzioni cognitive di controllo. Le azioni necessarie e gli atti mentali per la programmazione di un robot implicano le Funzioni Esecutive (FE), processi cognitivi di alto ordine, particolarmente importanti durante lo sviluppo cognitivo perché coinvolti nel ragionamento logico e nell’astrazione, nel decision-making, nel pensiero sequenziale, nel problem-solving e nel mantenimento/ aggiornamento delle informazioni in memoria. Nell’articolo sono sintetizzati e discussi gli studi con cui abbiamo cercato di provare con metodi scientifici l’effetto della RE sulle FE, nel gruppo classe per bambini con sviluppo tipico o con bisogni educativi speciali, e in ambito riabilitativo per bambini con disturbo del neurosviluppo

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach to HSP, but the power of NGS as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential disease-associated genes-and frequent overlap with other clinical conditions affecting the motor system make a molecular diagnosis in HSP cumbersome and time consuming. In a single-center, cross-sectional study, spanning 4 years, 239 subjects with a clinical diagnosis of HSP underwent molecular screening of a large set of genes, using two different customized NGS panels. The latest version of our targeted sequencing panel (SpastiSure3.0) comprises 118 genes known to be associated with HSP. Using an in-house validated bioinformatics pipeline and several in silico tools to predict mutation pathogenicity, we obtained a positive diagnostic yield of 29% (70/239), whereas variants of unknown significance (VUS) were found in 86 patients (36%), and 83 cases remained unsolved. This study is among the largest screenings of consecutive HSP index cases enrolled in real-life clinical-diagnostic settings. Its results corroborate NGS as a modern, first-step procedure for molecular diagnosis of HSP. It also disclosed a significant number of new mutations in ultra-rare genes, expanding the clinical spectrum, and genetic landscape of HSP, at least in Italy

Neuropsychological profile in children with neurodevelopmental disorders: new clinical and instrumental approaches to natural history and brain reorganization in cerebral palsy

Neurodevelopmental disabilities are a group of disorders with onset in the developmental period characterized by alterations of the central nervous system due to early brain damage, genetic/chromosomal abnormalities, epilepsy or environmental conditions which can give rise to intellectual disability, neuropsychological deficits, specific learning deficits, movement and posture disorders, such as Cerebral Palsy, and psychiatric disturbances. Other neurodevelopmental disorders frequently co-occur and determine impairments in personal, social, academic, and vocational functioning (Diagnostic and Statistical Manual of Mental disorders, Fifth edition, 2013). Neurodevelopmental disabilities are currently being studied based on different levels of description-behavioral, cognitive, neural-within a cognitive neuroscience framework, far distant from the adult domain-specific modularization approach. The modern cognitive neuroscience framework (Marechal et al., 2007; Johnson and de Haan, 2011) fuelled by recent breakthroughs in the fields of brain connectivity and genetics, posits that brain-behaviour relationships in childhood are best understood as being subsumed by progressive specialization and localization of function within the complex two-way interaction between genes and various environments. Traditionally, neurodevelopmental disorders have been often investigated through the lens of single levels of description rarely correlating, in the same patient, neuropsychological, neurofunctional and psychiatric evidence. The aim of this PhD thesis is to study Cerebral Palsy as a model of neurodevelopmental disability by integrating different levels of description for understanding such a complex and multifaceted neurodevelopmental disorder. According to the modern classification, Cerebral Palsy is described as “a group of permanent disorders of movement and posture causing activity limitation that are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication and behaviour, by epilepsy and by secondary musculoskeletal problems” (Rosenbaum et al., 2007). Current literature is underlining the crucial role of such associated deficits in determining outcome both in terms of neuropsychological and academic functioning as well as on a social, emotional and participation levels, and thus the limits of plasticity in the face of early damage to the central nervous system. Five studies have been conducted to investigate, in children with cerebral palsy with bilateral white matter lesions, the neuropsychological profile and neuroanatomical correlates, the impact of the neuropsychological profile on psychopathological and academic problems, and the effect of an intensive cognitive training on neuropsychological functioning and on the neurofunctional mechanisms underlying plasticity. The aims were pursued by means of new clinicaland instrumental approaches: on a behavioural level of description, the Developmental Neuropsychological Battery-NEPSY-II (Korkman M, Kirk U, Kemp SL, 2007; Italian standardization Urgesi C, Campanella F, Fabbro F, 2011), a comprehensive neuropsychological investigation, and CogMed Working Memory Training (RoboMemo®, CogMed Cognitive Medical Systems AB, Stockholm, Sweden), an evidence-based computerized program; on a neurofunctional level of description, a novel semi-quantitative scale for classification of brain MRI lesion severity (Fiori et al., 2014) and high density sleep EEG to measure changes in slow waves activity (electroencephalographic power between 0.5-4.5 Hz), crucial for regulating synaptic plasticity and cortical reorganization (Huber et al., 2004). Finally on a psychiatric level of description, psychopathological symptoms were investigated with a parent-report measure (CBCL, Achenbach et al., 1991). In the first study the aim was to analyze the profile of neuropsychological strengths and weaknesses, by NEPSY-II, and their relationship with neuroanatomical findings on brain MRI in children with bilateral cerebral palsy due to periventricular leukomalacia and normal verbal intelligence (Study 1). The results showed a neuropsychological impairment profile characterized by a multi-level structure: visuo-spatial and sensorimotor skills were severely impaired in almost all of the children, while difficulties in attention and executive functions were an additional weakness specifically associated with the involvement to anterior/medial corpus callosum and thalamus. Language and verbal memory were confirmed to be a specific strengths in this clinical population. The second study focused on the academic abilities in children with bilateral cerebral palsy to verify if there was a pattern of learning deficits specifically characterizing bilateral white matter lesions and not unilateral lesions. For this purpose, children with bilateral lesions were compared to age and intelligence matched children with unilateral lesions (Study 2). A high percentage (55%) of children with cerebral palsy showed reading or text comprehension difficulties and no significant differences across clinical forms of cerebral palsy were found, suggesting the different neurofunctional alterations leading to unilateral or bilateral brain lesion do not differently impact the compensative strategies for reading and text comprehension. The impact of the neuropsychological profile on paychopthological problems was investigated studying the behavioural and emotional characteristics and their correlations with the clinical and neuropsychological profiles (Study 3). The findings showed that the internalizing problems, that is social withdrawal and somatic problems, characterized a high percentage of children (35%) and resulted strongly correlated with the degree of impairment in non-verbal intelligence level, visuo-spatial and manual motor abilities as well as social competences. In the last year of the PhD project, an evidence-based training program has been administered to a sample of children with bilateral cerebral palsy due to periventricular leukomalacia in order to improve the neuropsychological impairments, attention and executive functions, found impaired in Study 1 (Study 4). A significant, directly trained effect on working memory abilities was found independently of clinical characteristics. An additional not-directly trained effect on impaired neuropsychological functions, such as visuo-spatial, inhibition and verbal updating, was found to be correlated to the degree of impairment in gross-motor function and verbal intelligence level. In a subgroup of children with bilateral cerebral palsy due to periventricular leukomalacia, the slow waves activity results at high density sleep EEG before and after training, have suggested new hypotheses on the neurofunctional mechanisms underlying plasticity such as sustained compensation or functional restitution (Study 5). Positive correlations between the improvement of impaired neuropsychological functions, such as visuo-spatial memory and manual planning, and the frequency-specific increase of the slow waves activities in fronto-occipital regions were found, suggesting a cortical reorganization process functionally connected with the trained neuropsychological domains. The introduction of this PhD thesis is oriented to briefly describe the neurodevelopmental disorder, cerebral palsy, and to illustrate the new instrumental and rehabilitative approaches used to study this clinical disorder

Plasticita cerebrale per la lettura: uno studio comparativo, comportamentale e di fMRI, in bambini con Dislessia Evolutiva o con Lesione Focale Congenita.

La seguente Tesi Magistrale si colloca come proseguo del lavoro svolto per la Tesi triennale dal titolo “Fattori di rischio nella Dislessia Evolutiva: indici neurofunzionali e sviluppo linguistico precoce” presso la Divisione di Neuropsichiatria Infantile dell'Università di Pisa - IRCCS Stella Maris (Pecini et al., 2011). L’obiettivo della precedente ricerca consisteva nell’investigare in pazienti italiani con dislessia evolutiva, che quindi usano un’ortografia regolare, i pattern di attivazione all’fMRI durante lo svolgimento di compiti fonologici correlando i circuiti attivati con il profilo comportamentale e cognitivo dei singoli pazienti. In accordo con gli studi condotti in lingua ad ortografia irregolare, i risultati ottenuti dimostravano, a livello di gruppo, una ridotta attivazione nei pazienti dislessici delle aree posteriori dei circuiti deputati all’elaborazione fonologica (Solco Temporale Superiore; Giro Sopramarginale). Tuttavia entro il gruppo dei pazienti dislessici, differenze di attivazione nelle aree anteriori del circuito fonologico (Giro Frontale Inferiore; Corteccia Prefrontale Dorsolaterale) sono state trovate in funzione della presenza/assenza di pregresso ritardo del linguaggio, cui si associano peggiori prestazioni ai test comportamentali. Queste differenze suggeriscono l’esistenza di processi di organizzazione neurofunzionale utili per compensare almeno parzialmente le difficoltà di lettura in alcuni gruppi di pazienti con Dislessia Evolutiva.. Sebbene la letteratura sulle basi neurofunzionali della dislessia sia unanime nell’identificare, oltre alle ipoattivazioni posteriori durante compiti di lettura o di elaborazione fonologica, differenze di attivazione in altre aree linguistiche, in particolare in quelle anteriori, rimane da chiarire il ruolo specifico di queste nei processi di compensazione o recupero del disturbo (Hoef, 2010). L'obiettivo della seguente tesi è dare un contributo alla comprensione dei meccanismi di plasticità che permettono la riorganizzazione di funzioni cognitive come la lettura che sono in larga parte organizzate nell'emisfero cerebrale sinistro: per questo scopo è apparso utile confrontare pazienti con Dislessia Evolutiva con pazienti con lesione focale congenita nell’emisfero sinistro per i quali è documentata una grande plasticità neuronale che porta a riorganizzare funzioni cognitive lateralizzate nell’emisfero leso sinistro, come il linguaggio, in aree omologhe dell'emisfero destro (riorganizzazione interemisferica). Tale tesi sperimentale ha l’obiettivo di indagare le strategie compensative neuro funzionali correlate alla performance comportamentale confrontando un gruppo dei dislessici con o senza ritardo del linguaggio e un gruppo di soggetti con lesione focale congenita nell’emisfero sinistro. Il confronto tra bambini con circuiti neurofunzionali, che nel caso della Dislessia Evolutiva si associano a disturbi gravi e persistenti di lettura mentre nei disturbi focali congeniti correlano con un outcome scolastico più favorevole, può fornire informazioni utili sia per l’impostazione di piani riabilitativi che per l’individuazione dei fattori predittivi delle difficoltà di lettura. Infine, nell’ipotesi che alcune limitazioni ai processi di riorganizzazione corticale nei pazienti con dislessia siano vincolati da alterazioni a livello sottocorticale, un ulteriore livello di analisi descritto in questa tesi è l’analisi morfometrica e morfologica di alcune strutture sottocorticali nei pazienti con dislessia (tramite l’analisi Vertex). I risultati dei test di lettura dimostrano l’assenza di disturbi specifici di apprendimento in bambini con lesione focale congenita nell’emisfero sinistro, suggerendo la presenza di processi di plasticità cerebrale che funzionano anche per l’apprendimento di competenze acquisite più tardivamente come la lettura oltre che, come dimostrato in letteratura, per l’apprendimento di abilità più precoci come il linguaggio. I risultati di fMRI descrivono l’attivazione di un circuito linguistico cerebrale nell’emisfero destro, omologo a quello attivato nei controlli nell’emisfero sinistro. Nei pazienti dislessici invece si dimostra l’ipoattivazione di un circuito neurofunzionale nell’emisfero sinistro. L’attivazione di un circuito completo nell’emisfero originariamente non dominante (destro) nei bambini con lesione focale congenita correla con performance comportamentali migliori e quindi si dimostra più efficace nel processo di lettura. Le evidenze emerse con la Vertex Analysis mostrano una differenza significativa nella morfometria e morfologia della porzione ventrale del putamen destro nei dislessici confermando il ruolo di questa struttura nei processi linguistici, di apprendimento implicito e di sequenze complesse e automatizzate fondamentali per l’apprendimento della lettura. Tale struttura sottocorticale, quindi, svolge un ruolo importante nei processi linguistici e di lettura che sono strettamente associati con la capacità riorganizzativa e plastica del cervello. A partire da questi risultati diventa sempre più importante l’identificazione precoce di ritardi nei pre-requisiti degli apprendimenti al fine di intervenire precocemente e favorire processi di plasticità cerebrale e riorganizzazione neurofunzionale

Executive Functions and Rapid Automatized Naming: A New Tele-Rehabilitation Approach in Children with Language and Learning Disorders

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 and evaluating the feasibility and effectiveness of a telerehabilitation program used during the pandemic period. MemoRAN (Anastasis), a computerised cognitive training to improve executive control during visual-verbal integration tasks was used in a sample of 42 children (5–11 years old) with specific learning or language disorders. The MemoRAN training was based on exercises of inhibition, cognitive flexibility and updating in working memory for three months, with a frequency of approximately three sessions per week. Afterwards, a comparison between a subgroup of children using Memo-RAN and an active control group, using a tele-rehabilitation program directed on reading was conducted. Effect size analysis in pre-post measurements suggests an average effect of MemoRAN in measurements that require control processes, such as accuracy in dictation, reading, inhibition and working memory testing. Comparison with the active control group and the clinical utility implications of these types of treatment will be discussed