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自闭症与结节性硬化症:患病率及临床特征

Autism and tuberous sclerosis complex: prevalence and clinical features.

作者信息

Baker P, Piven J, Sato Y

机构信息

Department of Psychiatry, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.

出版信息

J Autism Dev Disord. 1998 Aug;28(4):279-85. doi: 10.1023/a:1026004501631.

DOI:10.1023/a:1026004501631
PMID:9711484
Abstract

This study employed a hierarchical assessment to detect the prevalence of autism in a clinic sample of individuals with tuberous sclerosis complex (TSC). After screening subjects with the Autism Behavior Checklist, subsequent evaluations with the Autism Diagnostic Interview, and direct clinical observation, the prevalence of autistic disorder in this sample of 20 subjects was conservatively estimated at 20%. Data suggest a possible association between both hypsarrythmia and TSC-related cardiac abnormalities with autism in this subgroup of TSC individuals. Implications of these findings for clinical practice and further research are discussed.

摘要

本研究采用分层评估方法,以检测结节性硬化症(TSC)患者临床样本中自闭症的患病率。在用自闭症行为检查表对受试者进行筛查后,随后使用自闭症诊断访谈并进行直接临床观察,在这20名受试者的样本中,自闭症谱系障碍的患病率保守估计为20%。数据表明,在该结节性硬化症亚组个体中,癫痫性痉挛和TSC相关心脏异常均与自闭症可能存在关联。讨论了这些发现对临床实践和进一步研究的意义。

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本文引用的文献

1
Association of tuberous sclerosis of temporal lobes with autism and atypical autism.颞叶结节性硬化症与自闭症及非典型自闭症的关联。
Lancet. 1997 Feb 8;349(9049):392-5. doi: 10.1016/S0140-6736(97)80012-8.
2
Course of behavioral change in autism: a retrospective study of high-IQ adolescents and adults.自闭症患者行为改变历程:一项针对高智商青少年及成年人的回顾性研究
J Am Acad Child Adolesc Psychiatry. 1996 Apr;35(4):523-9. doi: 10.1097/00004583-199604000-00019.
3
A prevalence study of autism in tuberous sclerosis.结节性硬化症中自闭症的患病率研究。
结节性硬化症患者孤独症谱系障碍特征:一项纵向、前瞻性、多中心研究结果。
Ann Neurol. 2021 Dec;90(6):874-886. doi: 10.1002/ana.26249. Epub 2021 Oct 29.
4
A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC).一项关于结节性硬化症(TSC)患者疾病负担的系统评价。
Orphanet J Rare Dis. 2020 Jan 21;15(1):23. doi: 10.1186/s13023-019-1258-3.
5
NS- knockout mice show sex- and age-specific differences in ultrasonic vocalizations.NS- 基因敲除小鼠在超声发声方面表现出性别和年龄特异性差异。
Brain Behav. 2017 Oct 18;7(11):e00857. doi: 10.1002/brb3.857. eCollection 2017 Nov.
6
New insights into the pathogenesis and prevention of tuberous sclerosis-associated neuropsychiatric disorders (TAND).结节性硬化症相关神经精神障碍(TAND)发病机制及预防的新见解。
F1000Res. 2017 Jun 9;6. doi: 10.12688/f1000research.11110.1. eCollection 2017.
7
Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population.黎巴嫩人群遗传性自闭症易感性的候选基因。
Sci Rep. 2017 Mar 30;7:45336. doi: 10.1038/srep45336.
8
Inability to activate Rac1-dependent forgetting contributes to behavioral inflexibility in mutants of multiple autism-risk genes.无法激活Rac1依赖性遗忘会导致多种自闭症风险基因突变体出现行为灵活性障碍。
Proc Natl Acad Sci U S A. 2016 Jul 5;113(27):7644-9. doi: 10.1073/pnas.1602152113. Epub 2016 Jun 22.
9
Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.自闭症与癌基因突变增加但癌症发病率降低有关。
PLoS One. 2016 Mar 2;11(3):e0149041. doi: 10.1371/journal.pone.0149041. eCollection 2016.
10
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.在一项基于黎巴嫩人群的自闭症拷贝数变异研究中,RYR2、PTDSS1和AREG基因被牵涉其中。
Sci Rep. 2016 Jan 8;6:19088. doi: 10.1038/srep19088.
J Autism Dev Disord. 1993 Jun;23(2):323-39. doi: 10.1007/BF01046223.
4
Autistic behaviour and attention deficits in tuberous sclerosis: a population-based study.结节性硬化症中的自闭症行为与注意力缺陷:一项基于人群的研究。
Dev Med Child Neurol. 1994 Jan;36(1):50-6. doi: 10.1111/j.1469-8749.1994.tb11765.x.
5
Comparison between diagnostic instruments for identifying high-functioning children with autism.用于识别高功能自闭症儿童的诊断工具之间的比较。
J Autism Dev Disord. 1994 Jun;24(3):281-91. doi: 10.1007/BF02172227.
6
Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior.用于识别具有高度自闭症行为的重度残疾个体的行为检查表。
J Child Psychol Psychiatry. 1980 Jul;21(3):221-9. doi: 10.1111/j.1469-7610.1980.tb01797.x.
7
Hypsarrhythmia and infantile autism: a clinical report.高度节律失调与儿童自闭症:一份临床报告。
J Autism Child Schizophr. 1971 Jul-Sep;1(3):327-36. doi: 10.1007/BF01557352.
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Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982.1950年至1982年明尼苏达州罗切斯特市结节性硬化症的发病率和患病率。
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9
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Dev Med Child Neurol. 1987 Apr;29(2):190-8. doi: 10.1111/j.1469-8749.1987.tb02135.x.
10
Autism diagnostic interview: a standardized investigator-based instrument.自闭症诊断访谈:一种基于调查员的标准化工具。
J Autism Dev Disord. 1989 Sep;19(3):363-87. doi: 10.1007/BF02212936.