首页|Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?

Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?

扫码查看
原文链接
  • NETL
  • NSTL
  • 万方数据
Background Tuberous sclerosis complex(TSC)is a genetic disorder caused by inactivating mutations in the TSC1 and TSC2 genes,causing overactivation of the mechanistic(previously referred to as mammalian)target of rapamycin(mTOR)signaling pathway in fetal life.The 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 infants.Data 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","neurobiol-ogy",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 delays.Reliable genetic,cellular,electroencephalography and magnetic resonance imaging biomarkers can identify pre-symptomatic TSC infants at high risk for having autism and epilepsy.Conclusions 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.

Animal modelAutism spectrum disordersDevelopmental and epileptic encephalopathyMechanismsmTORRiskTuberos sclerosis complex

Paolo Curatolo、Mirte Scheper、Leonardo Emberti Gialloreti、Nicola Specchio、Eleonora Aronica

展开 >

Child Neurology and Psychiatry Unit,Systems Medicine Department,Tor Vergata University,Rome,Italy

Department of Neuropathology,Amsterdam Neuroscience,Amsterdam UMC Location University of Amsterdam,Amsterdam,The Netherlands

Department of Biomedicine and Prevention,University of Rome Tor Vergata,Via Montpellier 1,00133 Rome,Italy

Clinical and Experimental Neurology,Bambino Gesù Children's Hospital,IRCCS,Full Member of European Reference Network EpiCARE,Piazza S.Onofrio 4,00165 Rome,Italy

Stichting Epilepsie Instellingen Nederland(SEIN),Heemstede,Amsterdam,The Netherlands

展开 >

Next-Generation EU(NGEU)the Ministry of University and Research(MUR)National Recovery and Resilience Plan(NRRP)under project&&Funding AE and SM were supported by Healthcare Research and Medical SciencesFunding AE and SM were supported by Healthcare Research and Medical Sciences

MNESYSPE0000006DN.155311.10.2022ZonMw09120012010007

2024

10.1007/s12519-023-00762-2

世界儿科杂志(英文版)

世界儿科杂志(英文版)

CSTPCD
ISSN：
年,卷(期)：2024.20(1)
  • 156