المؤلفون: Ilaria Bitetti, Maria Rosaria Manna, Roberto Stella, Antonio Varone

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: gene replacement therapy, motor function, neurocognitive function, onasemnogene abeparvovec, spinal muscular atrophy, Neurology. Diseases of the nervous system, RC346-429

الوصف: IntroductionSpinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma®, Novartis) was efficacious in improving motor functioning in children with SMA. However, its effects on cognitive and language skills are largely unknown.MethodsThis longitudinal observational study evaluated changes in motor and neurocognitive functioning over a 1-year period after administration of onasemnogene abeparvovec in 12 symptomatic SMA type 1 patients with two copies of SMN2 aged 1.7–52.6 months at administration. Motor functioning was measured using the Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders (CHOP-INTEND) while neurocognitive assessment was measured using Griffiths III. Motor milestones and language ability were also assessed at each timepoint.Results and discussionStatistically significant increases in median CHOP-INTEND scores from baseline were observed at 1, 3, 6, and 12 months after onasemnogene abeparvovec administration (all p ≤ 0.005). Most (91.7%) patients were able to roll over or sit independently for >1 min at 12 months. Significant increases in the Griffiths III Foundations of Learning, Language and Communication, Eye and Hand Coordination, and Personal-Social-Emotional subscale scores were observed at 12-months, but not in the Gross Motor subscale. Speech and language abilities progressed in most patients. Overall, most patients showed some improvement in cognitive and communication performance after treatment with onasemnogene abeparvovec in addition to significant improvement in motor functioning and motor milestones. Evaluation of neurocognitive function should be considered when assessing the global functioning of patients with SMA.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1326528/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/3d1fe16a3d9f4da3b4088f865c2517a8Test

المؤلفون: Marika Pane, Beatrice Berti, Anna Capasso, Giorgia Coratti, Antonio Varone, Adele D’Amico, Sonia Messina, Riccardo Masson, Valeria Ada Sansone, Maria Alice Donati, Caterina Agosto, Claudio Bruno, Federica Ricci, Antonella Pini, Delio Gagliardi, Massimiliano Filosto, Stefania Corti, Daniela Leone, Concetta Palermo, Roberta Onesimo, Roberto De Sanctis, Martina Ricci, Ilaria Bitetti, Maria Sframeli, Claudia Dosi, Emilio Albamonte, Chiara Ticci, Noemi Brolatti, Enrico Bertini, Richard Finkel, Eugenio Mercuri, Maria Carmela Pera, Chiara Bravetti, Marco Piastra, Orazio Genovese, Gianpaolo Cicala, Nicola Forcina, Sara Carnicella, Giulia Stanca, Michele Sacchini, Michela Catteruccia, Michele Tosi, Renato Cutrera, Claudio Chierchi, Maria Beatrice Chiarini, Francesca Salmin, Marina Pedemonte, Alessandra Govoni, Irene Mizzoni, Simone Morando, Riccardo Zanin, Enrica Rolle, Eleonora Salomon, Melania Giannotta, Gaia Scarpini, Antonio Toscano, Eloisa Gitto, Roberto Materia, Rossella D’Alessandro

المصدر: EClinicalMedicine, Vol 59, Iss , Pp 101997- (2023)

مصطلحات موضوعية: Spinal muscular atrophy, Gene therapy, Follow-up, Longitudinal, Safety, Medicine (General), R5-920

الوصف: Summary: Background: Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months and

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2589537023001748Test; https://doaj.org/toc/2589-5370Test

الوصول الحر: https://doaj.org/article/40165d9821824625a9a6285a88f2fdbcTest

المؤلفون: Francesco Precenzano, Daniela Smirni, Luigi Vetri, Pierluigi Marzuillo, Valentina Lanzara, Ilaria Bitetti, Margherita Siciliano, Emanuele Miraglia del Giudice, Maria Esposito, Nicola Santoro, Marco Carotenuto

المصدر: Pediatric Reports, Vol 13, Iss 3, Pp 538-545 (2021)

مصطلحات موضوعية: personality assessment, paediatric obesity, maternal personality, MMPI-2, Medicine, Pediatrics, RJ1-570

الوصف: The epidemic spread of childhood obesity in Western society has interested many researchers, who agree in defining it as a multifactorial disease in which not only eating habits and sedentary lifestyle play a role, but also genetic predisposition. The aim of this study was to analyze the personality profile of a group of mothers of children with obesity and to compare this profile to that of a group of mothers of children without obesity. A total of 258 mothers participated in the study (126 mothers of children with obesity and 132 mothers of children without obesity). Weight and height were measured and the body mass index was calculated. The Minnesota Multiphasic Personality Inventory second edition (MMPI-2), evaluating personality and psychological disorders, was used to evaluate the personality profile. The results suggested that mothers of children with obesity score higher than the mothers of children without obesity in all MMPI-2 subscales. In most of these subscales, the differences between the two groups of mothers were statistically significant and with a medium to high effect size. These data suggest a new perspective on childhood obesity, identifying it as a multifactorial pathology that requires a multimodal and multidisciplinary approach that also takes care of caregivers to ensure optimal therapeutic efficacy.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2036-7503/13/3/63Test; https://doaj.org/toc/2036-7503Test

الوصول الحر: https://doaj.org/article/5381ddcd8ce3404ca5d926fabf9cd9efTest

المؤلفون: Maria Cristina Risoleo, Margherita Siciliano, Luigi Vetri, Ilaria Bitetti, Anna Di Sessa, Marco Carotenuto, Francesca Annunziata, Daniela Concolino, Rosa Marotta

المصدر: Children, Vol 9, Iss 11, p 1679 (2022)

مصطلحات موضوعية: phenylketonuria, neuropsychiatric disorders, psychopathological risk, CABI, SAFA, Pediatrics, RJ1-570

الوصف: Background: Phenylketonuria (PKU) is a rare congenital disorder caused by decreased metabolism of phenylalanine determining cerebral impairments. If untreated, PKU might lead to intellectual disability, seizures and behavioral disorders. The aim of this study is to provide a characterization of the psychopathological profile of a pediatric population diagnosed with PKU at newborn screening. Methods: an accurate neuropsychological evaluation of 23 patients (aged 8–18 years) with hyperphenylalaninemia (defined as experimental group, EG) and in 23 age-matched healthy controls (defined as control group, CG) was performed using the Child and Adolescent Behavior Inventory (CABI) and Self-Administrated Psychiatric Scales for Children and Adolescents (SAFA) questionnaires. Results: the CABI test showed significant differences for the sub-scales related to “Irritable mood”, “Oppositional-provocative symptoms” and “ADHD” in the EG compared to CG (p = 0.014, p = 0.032, and p = 0.032, respectively). Patients with hyperphenylalaninemia also presented with significant differences both for anxiety disorder scale and depression scale of SAFA test than controls (p = 0.018 and p = 0.009, respectively). Conclusions: children and adolescents with early diagnosis of PKU showed a psychopathological risk profile characterized by an increased risk of experiencing symptoms such as mood deflection, anxiety, attention deficit, oppositional defiant behavior, and obsessive traits than healthy peers. Our findings highlighted the need of the inclusion of a neuropsychiatric evaluation in the management of these patients to improve their overall quality of life.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9067/9/11/1679Test; https://doaj.org/toc/2227-9067Test

الوصول الحر: https://doaj.org/article/9d754676803f420a860bd06744d8498bTest

المؤلفون: Marco Carotenuto, Anna Di Sessa, Maria Esposito, Anna Grandone, Pierluigi Marzuillo, Ilaria Bitetti, Giuseppina Rosaria Umano, Francesco Precenzano, Emanuele Miraglia del Giudice, Nicola Santoro

المصدر: Children, Vol 8, Iss 11, p 984 (2021)

مصطلحات موضوعية: obstructive sleep apnea, fatty liver, apnea hypopnea index (AHI), oxygen desaturation index (ODI), insulin resistance (IR), children, Pediatrics, RJ1-570

الوصف: Background: Owing to the increasing rate of pediatric obesity, its complications such as non-alcoholic fatty liver disease (NAFLD) and obstructive sleep apnea (OSA) have become prevalent already in childhood. We aimed to assess the relationship between these two diseases in a cohort of children with obesity. Methods: We enrolled 153 children with obesity (mean age 10.5 ± 2.66, mean BMI 30.9 ± 5.1) showing OSA. Subjects underwent a laboratory evaluation, a cardio-respiratory polysomnography (PSG), and a liver ultrasound. Results: All subjects had a clinical diagnosis of OSA based on the AHI > 1/h (mean AHI 8.0 ± 5.9; range 2.21–19.0). Of these, 69 showed hepatic steatosis (62.3% as mild, 20.3% as moderate, and 17.4% as severe degree). A strong association between ALT and apnea/hypopnea index (AHI) was observed (p = 0.0003). This association was not confirmed after adjusting for hepatic steatosis (p = 0.53). By subdividing our population according to the presence/absence of steatosis, this association was found only in the steatosis group (p = 0.009). As the severity of steatosis increased, the significance of its association with AHI compared to the absence of steatosis became progressively stronger (all p < 0.0001). Conclusions: Hepatic steatosis seems to drive the association between OSA and ALT levels, suggesting a potential pathogenic role of OSA in NAFLD.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9067/8/11/984Test; https://doaj.org/toc/2227-9067Test

الوصول الحر: https://doaj.org/article/db442c1aa7324b26a33f665a31c1a6deTest

المؤلفون: Michele Roccella, Rosa Marotta, Francesca Felicia Operto, Daniela Smirni, Francesco Precenzano, Ilaria Bitetti, Giovanni Messina, Francesco Sessa, Giulio Di Mizio, Carla Loreto, Monica Salerno, Vincenzo Russo, Paolo Murabito, Beatrice Gallai, Maria Esposito, Diego Iacono, Marco Carotenuto

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: migraine without aura (MoA), NREM sleep instability, cyclic alternating pattern (CAP) analysis, sleep macrostructure, full overnight polysomnography, Neurology. Diseases of the nervous system, RC346-429

الوصف: Children with migraine headaches appear to have a range of sleep disturbances. The aim of the present study was to assess the NREM sleep instability in a population of school-aged individuals affected by migraine without aura (MoA). Thirty-three children with MoA (20 males, 13 females, mean age 10.45 ± 2.06 years) underwent to overnight Polysomnographic (PSG) recordings and Cyclic Alternating Pattern (CAP) analyses accordingly with international criteria. MoA group showed a reduction in sleep duration parameters (TIB, SPT, TST; p ≤ 0.001 for all) and in arousal index during REM sleep and an increase in awakenings per hour (AWK/h) vs. Controls (C) (p = 0.008). In particular, MoA children showed a reduced CAP rate% (p ≤ 0.001), CAP rate% in S1 (p ≤ 0.001) and CAP rate% in SWS (p = 0.004) vs. C. Moreover, A phases distribution were characterized by a reduction in slow wave components (total number CAP A1%, CAP A1 index) (p ≤ 0.001) and an increase of fast components representation (total number of CAP A2% and CAP A3%) (p < 0.001) in MoA vs. C. Moreover, MoA children showed an increased A1 and A2 mean duration (p ≤ 0.001). Our findings show a reduction of arousability in MoA group and lower NREM lower sleep instability associated with MoA in children.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.00932/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/2c0d57bfb40f439e8651722663af6babTest

المؤلفون: Francesca Felicia Operto, Francesco Precenzano, Ilaria Bitetti, Valentina Lanzara, Maria Lorena Fontana, Grazia Maria Giovanna Pastorino, Marco Carotenuto, Francesco Pisani, Anna Nunzia Polito, Daniela Smirni, Michele Roccella

المصدر: Behavioural Neurology, Vol 2019 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

الوصف: Background. Obstructive sleep apnea syndrome (OSAS) affects up to 4% of a pediatric population, with many comorbidities in the medium-long term. Functional alterations in the prefrontal cortex (PFC) may explain why OSAS impacts aspects such as executive functions, memory, motor control, attention, visual-spatial skills, learning, and mood regulation. Emotional intelligence (EI) is a complex neuropsychological function that could be impaired in many clinical conditions. Purpose. The aim of the study is to evaluate the difference in emotional intelligence skills among children with OSAS and healthy subjects (nOSAS). Methods. 129 children (72 males; mean age 7.64±1.98 years) affected by OSAS were compared to 264 non-OSAS (nOSAS) children (138 males; mean age 7.98±2.13) similar for gender, age, and socioeconomic status. In order to assess the emotional quotient, the Bar-On Emotional Quotient Inventory: Youth Version (EQ-i:YV) was used. Results. The comparison for means and standard deviation between OSAS children and nOSAS children for EQ-i:YV scores showed significant differences for Interpersonal, Adaptability, and Stress Management scales and EQ Total score. Conclusions. Our findings highlighted the role of intermittent hypoxia in the genesis of the effects of sleep-related respiratory disorders, which involves also aspects different from physical impairments.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/0953-4180Test; https://doaj.org/toc/1875-8584Test

الوصول الحر: https://doaj.org/article/4558da9c434b4fd88ac21d1bb1e0b32cTest

المؤلفون: Marco Carotenuto, Michele Roccella, Francesco Pisani, Sara Matricardi, Alberto Verrotti, Giovanni Farello, Francesca Felicia Operto, Ilaria Bitetti, Francesco Precenzano, Giovanni Messina, Maria Ruberto, Cristiana Ciunfrini, Mariagrazia Riccardi, Eugenio Merolla, Grazia Maria Giovanna Pastorino, Anna Nunzia Polito, Rosa Marotta

المصدر: Behavioural Neurology, Vol 2019 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

الوصف: Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children with typical development. All subjects underwent at least 1 overnight polysomnographic recording (PSG). All recorded data obtained from patients and controls were compared. In children with FXS, all PSG-recorded parameters resulted pathological values compared to those obtained from controls, and in FXS children only, we recorded interictal epileptiform discharges (IEDs), as diffuse or focal spikes and sharp waves, usually singles or in brief runs with intermittent or occasional incidence. A possible link between IEDs and alterations in the circadian sleep-wake cycle may suggest a common dysregulation of the balance between inhibitory and excitatory pathways in these patients. The alteration in sleep pattern in children with FXS may negatively impact the neuropsychological and behavioral functioning, adding increasing burn of the disease on the overall management of these patients. In this regard, treating physicians have to early detect sleep disturbances in their patients for tailored management, in order to prevent adjunctive comorbidities.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/0953-4180Test; https://doaj.org/toc/1875-8584Test

الوصول الحر: https://doaj.org/article/7b002e5b1258426fa39414e2443f9b2bTest

المؤلفون: Francesco Precenzano, Lucia Parisi, Valentina Lanzara, Luigi Vetri, Francesca Felicia Operto, Grazia Maria Giovanna Pastorino, Maria Ruberto, Giovanni Messina, Maria Cristina Risoleo, Claudia Santoro, Ilaria Bitetti, Rosa Marotta

المصدر: Medicina, Vol 56, Iss 9, p 419 (2020)

مصطلحات موضوعية: autism spectrum disorders, epilepsy, electroencephalogram, epileptogenic abnormalities, non-epileptiform abnormalities, Medicine (General), R5-920

الوصف: A large body of literature reports the higher prevalence of epilepsy in subjects with Autism Spectrum Disorder (ASD) compared to the general population. Similarly, several studies report an increased rate of Subclinical Electroencephalographic Abnormalities (SEAs) in seizure-free patients with ASD rather than healthy controls, although with varying percentages. SEAs include both several epileptiform discharges and different non-epileptiform electroencephalographic abnormalities. They are more frequently associated with lower intellectual functioning, more serious dysfunctional behaviors, and they are often sign of severer forms of autism. However, SEAs clinical implications remain controversial, and they could represent an epiphenomenon of the neurochemical alterations of autism etiology. This paper provides an overview of the major research findings with two main purposes: to better delineate the state-of-the-art about EEG abnormalities in ASD and to find evidence for or against appropriateness of SEAs pharmacological treatment in ASD.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1648-9144/56/9/419Test; https://doaj.org/toc/1010-660XTest; https://doaj.org/toc/1648-9144Test

الوصول الحر: https://doaj.org/article/152c3b1fdb724b7094cf3d5b45416ffaTest

المؤلفون: Antonietta Messina, Vincenzo Monda, Francesco Sessa, Anna Valenzano, Monica Salerno, Ilaria Bitetti, Francesco Precenzano, Rosa Marotta, Francesco Lavano, Serena M. Lavano, Margherita Salerno, Agata Maltese, Michele Roccella, Lucia Parisi, Roberta I. Ferrentino, Gabriele Tripi, Beatrice Gallai, Giuseppe Cibelli, Marcellino Monda, Giovanni Messina, Marco Carotenuto

المصدر: Frontiers in Physiology, Vol 9 (2018)

مصطلحات موضوعية: autism spectrum disorders (ASD), Orexin-A, oxidative stress, heart rate (HR), heart rate variability (HRV), Physiology, QP1-981

الوصف: Autism spectrum disorders (ASD) is a complex and multifaceted neurobehavioral syndrome with no specific cause still identified, despite the worldwide increasing (prevalence for 1,000 children from 6.7 to 14.6, between 2000 and 2012). Many biological and instrumental markers have been suggested as potential predictive factors for the precocious diagnosis during infancy and/or pediatric age. Many studies reported structural and functional abnormalities in the autonomic system in subjects with ASD. Sleep problems in ASD are a prominent feature, having an impact on the social interaction of the patient. Considering the role of orexins (A and B) in wake-sleep circadian rhythm, we could speculate that ASD subjects may present a dysregulation in orexinergic neurotransmission. Conversely, oxidative stress is implicated in the pathophysiology of many neurological disorders. Nonetheless, little is known about the linkage between oxidative stress and the occurrence or the progress of autism and autonomic functioning; some markers, such as heart rate (HR), heart rate variability (HRV), body temperature, and galvanic skin response (GSR), may be altered in the patient with this so complex disorder. In the present paper, we analyzed an autism case report, focusing on the rule of the sympathetic activity with the aim to suggest that it may be considered an important tool in ASD evaluation. The results of this case confirm our hypothesis even if further studies needed.

وصف الملف: electronic resource

العلاقة: http://journal.frontiersin.org/article/10.3389/fphys.2018.00261/fullTest; https://doaj.org/toc/1664-042XTest

الوصول الحر: https://doaj.org/article/6aefd18a822644d3a028495365c23744Test