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Is tuberous sclerosis complex-associated autism a preventable andtreatabledisorder?

World Journal of Pediatrics 2024年第1期20卷 40-53页

作者： paolo curatolo Mirte Scheper Leonardo Emberti Gialloreti Nicola Specchio Eleonora Aronica Child Neurology and Psychiatry Unit Systems Medicine DepartmentTor Vergata UniversityRomeItaly Department of Neuropathology Amsterdam NeuroscienceAmsterdam UMC Location University of AmsterdamAmsterdamTheNetherlands Department of Biomedicine and Prevention University of Rome Tor VergataVia Montpellier 100133 RomeItaly Clinical and Experimental Neurology Bambino Gesù Children's HospitalIRCCSFull Member of European ReferenceNetworkEpiCAREPiazza S.Onofrio400165 RomeItaly Stichting Epilepsie Instellingen Nederland(SEIN) HeemstedeAmsterdamThe Netherlands

Background Tuberous sclerosis complex(TSC)is a genetic disorder caused by inactivating mutations in the TSCl and TSC2 genes,causing overactivation of the mechanistic(previously referred to as mammalian)target of rapamycin(mTOR)signaling pathway in fetal *** mTOR pathway plays a crucial role in several brain processes leading to TSC-related epilepsy,intellectual disability,and autism spectrum disorder(ASD).Pre-natal or early post-natal diagnosis of TSC is now possible in a growing number of pre-symptomatic *** sources We searched PubMed for peer-reviewed publications published between January 2010 and April 2023 with the terms“tuberous sclerosis",“autism",or“autism spectrum disorder""animal models",“preclinical studies",“neurobiology",and“treatment".Results Prospective studies have highlighted that developmental trajectories in TSC infants who were later diagnosed with ASD already show motor,visual and social communication skills in the first year of life *** genetic,cellular,electroencephalography and magnetic resonance imaging biomarkers can identify pre-symptomatic TSC infants at high risk for having autism and *** Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC.

关键词： Animal model-Autism spectrum disorders Developmental and epileptic encephalopathy Mechanisms mTOR Risk Tuberos sclerosis complex

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Current role of surgery for tuberous sclerosis complex-associated epilepsy

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Pediatric Investigation 2022年第1期6卷 16-22页

作者： Nicola Specchio Giusy Carfi Pavia Luca de Palma Alessandro De Benedictis Chiara Pepi Marta Conti Carlo Efisio Marras Federico Vigevano paolo curatolo Rare and Complex Epilepsy Unit Department of NeurosciencesBambino GesùChildren’s HospitalIRCCSRomeItaly Neurosurgery Unit Department of NeurosciencesBambino GesùChildren’s HospitalIRCCSRomeItaly Department of Neurosciences Bambino GesùChildren’s HospitalIRCCSRomeItaly Child Neurology and Psychiatry Unit Systems Medicine DepartmentTor Vergata UniversityRomeItaly

Tuberous sclerosis complex(TSC)is a rare multisystem,autosomal dominant neurocutaneous syndrome in which epilepsy is the most common of several neurological and psychiatric *** two thirds of patients develop drug-resistant epilepsy for whom surgical resection of epileptogenic foci is indicated when seizures remain inadequately controlled following trial of two antiseizure *** challenge with presurgical and surgical approaches with patients with TSC is overcoming the complexity from the number of tubers and the multiplex epileptogenic network forming the epileptogenic *** suggest that seizure freedom is achieved by 55%-60%of patients,but predictive factors for success have remained elusive,which makes for unconfident selection of surgical *** article presents three different cases as illustrations of the potential challenges faced when assessing the suitability of TSC patients for epilepsy surgery.

关键词： Epilepsy Everolimus Imaging Prognostics Surgery Tuberous sclerosis complex(TSC)

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Clinical and therapeutic implications of psychiatric comorbidity in high functioning autism/Asperger syndrome: An Italian study

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Open Journal of Psychiatry 2013年第3期3卷 329-334页

作者： Silvia Giovinazzo Sara Marciano Grazia Giana paolo curatolo Maria-Cristina Porfirio Department of Child Neurology and Psychiatry Tor Vergata University Rome Italy Department of Neuroscience Child and Adolescence Psychiatry Unit Children Hospital Bambino Gesù Rome Italy

The present study describes the occurrence of psychiatric comorbid disorders in a cohort of 86 high functioning autism (HFA)/Asperger syndrome (AS) patients, examined at Child Neurology and Psychiatry Unit of Tor Vergata University. 38 patients out of 86 (44.2%) presented one or more psychiatric comorbidities, such as mood disorders, Attention Deficit/Hyperactivity Disorder (ADHD), Tourette syndrome (TS), anxiety disorders, including obsessive-compulsive disorder (OCD), and psychotic symptoms. We compared our sample with the evidences from the scientific literature on psychiatric comorbidity in ASD patient, in particular in HFA/AS. In this paper we focus on the high frequency of comorbid psychiatric disorders in HFA/AS patients, such as mood disorders, Attention Deficit/Hyperactivity Disorder (ADHD), Tourette syndrome (TS), anxiety disorders, including obsessive-compulsive disorder (OCD), and psychosis, including schizophrenia. We analyzed rates of all psichiatric comorbidities diagnosed in a sample of HFA/AS subjects and we compared findings from our study with the evidences from the scientific literature on psychiatric comorbidity in ASD patients, in particular HFA/AS. We point out that comorbid psychiatric symptoms can be hardly diagnosed, because they could present atipically in ASDs then in general population. Furthermore, they could be masked by ASD core symptoms.

关键词： Autistic Spectrum Disorders Psychiatric Comorbidity

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Urinary polyomavirus infections in neurodevelopmental disorders

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Open Journal of Psychiatry 2013年第2期3卷 18-25页

作者： Ivan Gentile Laura Altieri Carla Lintas Roberto Sacco paolo curatolo Arianna Benvenuto Filippo Muratori Elisa Santocchi Carmela Bravaccio Carlo Lenti Raffaella Faggioli Roberto Rigardetto Marina Gandione Giuseppe Portella Emanuela Zappulo Guglielmo Borgia Antonio M. Persico Department of Child Neurology and Psychiatry I.R.C.C.S. “Stella Maris” University of Pisa Pisa Italy Department of Child Neuropsychiatry University “Tor Vergata” Rome Italy Department of Child Neuropsychiatry University of Milan Italy Department of Child Neuropsychiatry University of Turin Turin Italy Department of Clinical Medicine and Surgery University of Naples “Federico II” Naples Italy Department of Experimental Neurosciences I.R.C.C.S. “Fondazione Santa Lucia” Rome Italy Department of Translational Medical Science University “Federico II” Naples Italy Fondazione Teda per l’Autismo ONLUS Turin Italy Mafalda Luce Center for Pervasive Developmental Disorders Milan Italy Unit of Child and Adolescent Neuropsychiatry Laboratory of Molecular Psychiatry and Neurogenetics University “Campus Bio- Medico” Rome Italy

We have recently reported enhanced frequencies of polyomavirus infection in post-mortem brain tissue of autistic patients compared to controls. To further explore potential contributions to neurodevelopmental disorders by polyomaviruses, we have employed specie-specific TaqMan assays to assess the prevalence and titres of BKV, JCV and SV40 inthe urines of 87 patients with autism spectrum disorder, 84 controls matched by sex and age with the autistic sample, 15 subjects with Down syndrome and 13 fragile X individuals. Prevalence rates of urinary BKV infection were significantly greater in Down syndrome and fragile X patients compared to autistic and control individuals (P < 0.01). In a large majority of patients who showed the presence of urinary genomes, viral titres resulted significantly higher among Down syndrome patients (P < 0.01) compared to controls, autism spectrum disorder and fragile X individuals, who did not significantly differ from each other. Our results are consistent with previous evidence supporting hampered immunological surveillance and/or immune deficits in fragile X and especially in Down syndrome patients.

关键词： Autism BKV Down Syndrome Fragile X Syndrome JCV SV40

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