孤獨(dú)癥顱腦MRI研究進(jìn)展

孤獨(dú)癥顱腦MRI研究進(jìn)展胡冰

副主任醫(yī)師中山大學(xué)附屬第三醫(yī)院放射科廣東省醫(yī)學(xué)會(huì)第十六次放射醫(yī)學(xué)學(xué)術(shù)會(huì)議國(guó)家自然科學(xué)基金青年工程，工程編號(hào)：31100738李詠梅、胡冰、李建英、孟安啟、易莉、梁亞勇、陳碧媛、李冬蘊(yùn)BrainMRIresearchprogress

inautismBingHuMDAssociateChiefPhysician,DepartmentofRadiology,theThirdAffiliatedHospitalofSUNYat-senUniversity前言獲得1989年奧斯卡最正確影片最正確導(dǎo)演最正確原創(chuàng)劇本最正確男主角?雨人?巴里·萊文森1988年執(zhí)導(dǎo)的一部劇情電影。目錄孤獨(dú)癥簡(jiǎn)介相關(guān)學(xué)科研究MRI研究進(jìn)展早期MRI研究00’sMRI研究10’sMRI研究今年MRI研究參考文獻(xiàn)目錄孤獨(dú)癥簡(jiǎn)介相關(guān)學(xué)科研究MRI研究進(jìn)展早期MRI研究00’sMRI研究10’sMRI研究今年MRI研究參考文獻(xiàn)1.孤獨(dú)癥簡(jiǎn)介孤獨(dú)癥是一種神經(jīng)系統(tǒng)失調(diào)導(dǎo)致的發(fā)育障礙早期不能進(jìn)行正常的語(yǔ)言表達(dá)和社交活動(dòng)常做出一些刻板、重復(fù)性和限制性的動(dòng)作Autism一詞源于希臘語(yǔ)「autor」，原意為自我孤獨(dú)癥患者的突出特征-自我興趣孤獨(dú)癥和自閉癥是Autism的兩種譯名男性多于女性孤獨(dú)癥的首次發(fā)現(xiàn)1943年，在約翰霍普金斯醫(yī)院工作的醫(yī)生LeoKanner發(fā)表了第一篇關(guān)于孤獨(dú)癥的論文5歲男孩Donald是第一個(gè)被診斷為孤獨(dú)癥的孩子“每當(dāng)自己一個(gè)人的時(shí)候，總會(huì)感覺(jué)自己很幸福，且不愿意其他人打攪他獨(dú)處〞——LeoKanner[1] KannerL.Autisticdisturbancesofaffectivecontact.ActaPaedopsychiatr,1968,35(4):100-136.診斷標(biāo)準(zhǔn)的演變1973年WHO1980年DSM-III1987年DSM-III-R1989年ICD-101994年DSM-IV2000年DSM-IV-TR2021年DSM-VTheDiagnosticandStatisticalManualofMentalDisorders精神疾病診斷與統(tǒng)計(jì)手冊(cè)InternationalClassificationofDiseases國(guó)際疾病分類(lèi)DSM-V〔2021〕統(tǒng)稱(chēng)為孤獨(dú)癥譜系障礙〔autisticspectrumdisorders,ASD〕診斷標(biāo)準(zhǔn)：A.在各種情景下持續(xù)存在的社會(huì)交流和社會(huì)交往缺陷，包括在現(xiàn)在或過(guò)去有以下表現(xiàn):〔1〕社會(huì)-情感互動(dòng)缺陷〔2〕用于社會(huì)交往的非言語(yǔ)交流行為缺陷〔3〕建立或維持與其發(fā)育水平相符的人際關(guān)系缺陷DSM-VB.狹隘、重復(fù)的行為方式、興趣或活動(dòng)內(nèi)容，包括在現(xiàn)在或過(guò)去有以下表現(xiàn)的至少兩項(xiàng):〔1〕語(yǔ)言、運(yùn)動(dòng)或物體運(yùn)用刻板或重復(fù)〔2〕過(guò)分堅(jiān)持某些常規(guī)以及言語(yǔ)或非言語(yǔ)行為的儀式，或?qū)Ω淖兊倪^(guò)分抵抗〔3〕高度狹隘、固定的興趣，其在強(qiáng)度和關(guān)注度上是異常的〔4〕對(duì)感覺(jué)刺激反響過(guò)度或反響低下，對(duì)環(huán)境中的感覺(jué)刺激表現(xiàn)出異常的興趣DSM-VC.病癥必須在兒童早期出現(xiàn)D.所有病癥共同限制和損害了日常功能E.這些病癥不能用智力發(fā)育障礙或全面發(fā)育緩慢解釋[1] CoplanJ.Atypicality,intelligence,andage:aconceptualmodelofautisticspectrumdisorder.DevMedChildNeurol,2003,45(10):712-716.[2] CoplanJ,JawadAF.Modelingclinicaloutcomeofchildrenwithautisticspectrumdisorders.Pediatrics,2005,116(1):117-122.[1] CoplanJ.Atypicality,intelligence,andage:aconceptualmodelofautisticspectrumdisorder.DevMedChildNeurol,2003,45(10):712-716.[2] CoplanJ,JawadAF.Modelingclinicaloutcomeofchildrenwithautisticspectrumdisorders.Pediatrics,2005,116(1):117-122.孤獨(dú)癥的診斷沒(méi)有特異性實(shí)驗(yàn)室診斷手段CT、MRI、SPECT、PET、腦電圖、染色體、誘發(fā)電位等檢查有助鑒別診斷根據(jù)典型臨床表現(xiàn)自閉癥診斷不難診斷可根據(jù)DSM-V為標(biāo)準(zhǔn)CHAT、CARS、ABC是國(guó)內(nèi)常用篩查量表ADI-R、ADOS是診斷“金標(biāo)準(zhǔn)〞，新的篩查量表如SRS考慮了譜系障礙的問(wèn)題目錄孤獨(dú)癥簡(jiǎn)介相關(guān)學(xué)科研究MRI研究進(jìn)展早期MRI研究00’sMRI研究10’sMRI研究今年MRI研究參考文獻(xiàn)[1] WakefieldAJ,MurchSH,AnthonyA,etal.Ileal-lymphoid-nodularhyperplasia,non-specificcolitis,andpervasivedevelopmentaldisorderinchildren.Lancet,1998,351(9103):637-641.[1] WakefieldAJ,MurchSH,AnthonyA,etal.Ileal-lymphoid-nodularhyperplasia,non-specificcolitis,andpervasivedevelopmentaldisorderinchildren.Lancet,1998,351(9103):637-641.[1] PintoD,DelabyE,MericoD,etal.Convergenceofgenesandcellularpathwaysdysregulatedinautismspectrumdisorders.AmJHumGenet,2021,94(5):677-694.[1] SzokoN,McShaneAJ,NatowiczMR.Proteomicexplorationsofautismspectrumdisorder.AutismRes,2021.截止至2021-8-6Pubmed上關(guān)于autism以及autism&MRI的文獻(xiàn)數(shù)目錄孤獨(dú)癥簡(jiǎn)介相關(guān)學(xué)科研究MRI研究進(jìn)展早期MRI研究00’sMRI研究10’sMRI研究今年MRI研究參考文獻(xiàn)早期MRI研究[1] CourchesneE,HesselinkJR,JerniganTL,etal.Abnormalneuroanatomyinanonretardedpersonwithautism.Unusualfindingswithmagneticresonanceimaging.ArchNeurol,1987,44(3):335-341.秦志宏,1996[1] CourchesneE,PressGA,Yeung-CourchesneR.ParietallobeabnormalitiesdetectedwithMRinpatientswithinfantileautism.AJRAmJRoentgenol,1993,160(2):387-393.[1] SchifterT,HoffmanJM,HattenHP,Jr.,etal.Neuroimagingininfantileautism.JChildNeurol,1994,9(2):155-161.[1] CourchesneE,SaitohO,Yeung-CourchesneR,etal.AbnormalityofcerebellarvermianlobulesVIandVIIinpatientswithinfantileautism:identificationofhypoplasticandhyperplasticsubgroupswithMRimaging.AJRAmJRoentgenol,1994,162(1):123-130.Courchesne提出假設(shè):孤獨(dú)癥的小腦發(fā)育存在著發(fā)育不良和發(fā)育過(guò)度兩種類(lèi)型00’sMRI研究[1] PalmenSJ,vanEngelandH.Reviewonstructuralneuroimagingfindingsinautism.JNeuralTransm(Vienna),2004,111(7):903-929.TBV[1] PalmenSJ,vanEngelandH.Reviewonstructuralneuroimagingfindingsinautism.JNeuralTransm(Vienna),2004,111(7):903-929.基于體素的DTI研究[1] Barnea-GoralyN,KwonH,MenonV,etal.Whitematterstructureinautism:preliminaryevidencefromdiffusiontensorimaging.BiolPsychiatry,2004,55(3):323-326.大腦的不對(duì)稱(chēng)性[1] HerbertMR,ZieglerDA,DeutschCK,etal.Brainasymmetriesinautismanddevelopmentallanguagedisorder:anestedwhole-brainanalysis.Brain,2005,128(Pt1):213-226.胼胝體[1] VidalCN,NicolsonR,DeVitoTJ,etal.Mappingcorpuscallosumdeficitsinautism:anindexofaberrantcorticalconnectivity.BiolPsychiatry,2006,60(3):218-225.DTIofCC[1] AlexanderAL,LeeJE,LazarM,etal.DiffusiontensorimagingofthecorpuscallosuminAutism.Neuroimage,2007,34(1):61-73.[1] AlexanderAL,LeeJE,LazarM,etal.DiffusiontensorimagingofthecorpuscallosuminAutism.Neuroimage,2007,34(1):61-73.柯曉燕，2021曾小璐，2007VBM柯曉燕，2021[1] MullerRA.Thestudyofautismasadistributeddisorder.MentRetardDevDisabilResRev,2007,13(1):85-95.[1] HarmsMB,MartinA,WallaceGL.Facialemotionrecognitioninautismspectrumdisorders:areviewofbehavioralandneuroimagingstudies.NeuropsycholRev,2021,20(3):290-322.[1] HarmsMB,MartinA,WallaceGL.Facialemotionrecognitioninautismspectrumdisorders:areviewofbehavioralandneuroimagingstudies.NeuropsycholRev,2021,20(3):290-322.[1] AmaralDG,SchumannCM,NordahlCW.Neuroanatomyofautism.TrendsNeurosci,2021,31(3):137-145.10’sMRI研究[1] LangeN,DubrayMB,LeeJE,etal.Atypicaldiffusiontensorhemisphericasymmetryinautism.AutismRes,2021,3(6):350-358.全腦DTI研究[1] GroenWB,BuitelaarJK,vanderGaagRJ,etal.Pervasivemicrostructuralabnormalitiesinautism:aDTIstudy.JPsychiatryNeurosci,2021,36(1):32-40.[1] GroenWB,BuitelaarJK,vanderGaagRJ,etal.Pervasivemicrostructuralabnormalitiesinautism:aDTIstudy.JPsychiatryNeurosci,2021,36(1):32-40.腦白質(zhì)束CC[1] HongS,KeX,TangT,etal.Detectingabnormalitiesofcorpuscallosumconnectivityinautismusingmagneticresonanceimaginganddiffusiontensortractography.PsychiatryRes,2021,194(3):333-339.儲(chǔ)康康，2021[1] JouRJ,MateljevicN,KaiserMD,etal.Structuralneuralphenotypeofautism:preliminaryevidencefromadiffusiontensorimagingstudyusingtract-basedspatialstatistics.AJNRAmJNeuroradiol,2021,32(9):1607-1613.fMRI+DTI[1] KanaRK,MurdaughDL,LiberoLE,etal.ProbingthebraininautismusingFMRIanddiffusiontensorimaging.JVisExp,2021,(55).[1] ThomasC,HumphreysK,JungKJ,etal.Theanatomyofthecallosalandvisual-associationpathwaysinhigh-functioningautism:aDTItractographystudy.Cortex,2021,47(7):863-873.[1] BilleciL,CalderoniS,TosettiM,etal.Whitematterconnectivityinchildrenwithautismspectrumdisorders:atract-basedspatialstatisticsstudy.BMCNeurol,2021,12:148.性別差異[1] BeacherFD,MinatiL,Baron-CohenS,etal.Autismattenuatessexdifferencesinbrainstructure:acombinedvoxel-basedmorphometryanddiffusiontensorimagingstudy.AJNRAmJNeuroradiol,2021,33(1):83-89.雙關(guān)語(yǔ)[1] KanaRK,WadsworthHM."Thearcheologist'scareerendedinruins":hemisphericdifferencesinpuncomprehensioninautism.Neuroimage,2021,62(1):77-86.DefaultModeNetwork默認(rèn)模式網(wǎng)絡(luò)(DMN)是在人腦處于靜息狀態(tài)時(shí)維持人腦健康代謝活動(dòng)的假設(shè)干具有時(shí)間相關(guān)性的腦區(qū)組成的網(wǎng)絡(luò)[1] WashingtonSD,GordonEM,BrarJ,etal.Dysmaturationofthedefaultmodenetworkinautism.HumBrainMapp,2021,35(4):1284-1296.MRS[1] FujiiE,MoriK,MiyazakiM,etal.Functionofthefrontallobeinautisticindividuals:aprotonmagneticresonancespectroscopicstudy.JMedInvest,2021,57(1-2):35-44.鄒小兵，2021[1] MoriK,TodaY,ItoH,etal.Neuroimaginginautismspectrumdisorders:1H-MRSandNIRSstudy.JMedInvest,2021,62(1-2):29-36.[1] HardanAY,FungLK,FrazierT,etal.Aprotonspectroscopystudyofwhitematterinchildrenwithautism.ProgNeuropsychopharmacolBiolPsychiatry,2021,66:48-53.儲(chǔ)康康，2021李詠梅，2021〔368，CT：26/205，MRI：55/155〕李詠梅，2021今年MRI研究[1] BalstersJH,MantiniD,WenderothN.Connectivity-basedparcellationrevealsdistinctcortico-striatalconnectivityfingerprintsinAutismSpectrumDisorder.Neuroimage,2021.谷胱甘肽[1] EndresD,TebartzvanElstL,MeyerSA,etal.Glutathionemetabolismintheprefrontalbrainofadultswithhigh-functioningautismspectrumdisorder:anMRSstudy.MolAutism,2021,8:10.r-fMRI〔871〕[1] AbrahamA,MilhamMP,DiMartinoA,etal.Derivingreproduciblebiomarkersfrommulti-siteresting-statedata:AnAutism-basedexample.Neuroimage,2021,147:736-745.[1] BernhardtBC,DiMartinoA,ValkSL,etal.Neuroimaging-BasedPhenotypingoftheAutismSpectrum.CurrTopBehavNeurosci,2021,30:341-355.[1] CalderoniS,AndrewsDS,AvinoTA,etal.InVivoEvidenceofReducedIntegrityoftheGray-WhiteMatterBoundaryinAutismSpectrumDisorder.EurJNeurosci,2021.[1] ContiE,MitraJ,CalderoniS,etal.Networkover-connectivitydifferentiatesautismspectrumdisorderfromotherdevelopmentaldisordersintoddlers:AdiffusionMRIstudy.HumBrainMapp,2021.[1] ChengW,RollsET,ZhangJ,etal.Functionalconnectivitydecreasesinautisminemotion,self,andfacecircuitsidentifiedbyKnowledge-basedEnrichmentAnalysis.Neuroimage,2021,148:169-178.[1] HazlettH,GuH,MunsellB,etal.Earlybraindevelopmentininfantsathighriskforautismspectrumdisorder.Nature,2021,(7641):348-351.318HR,117LR70HR-ASD[1] MensenVT,WierengaLM,vanDijkS,etal.Developmentofcorticalthicknessandsurfaceareainautismspectrumdisorder.NeuroimageClin,2021,13:215-222.[1] MoradiE,KhundrakpamB,LewisJD,etal.Predictingsymptomseverityinautismspectrumdisorderbasedoncorticalthicknessmeasuresinagglomerativedata.Neuroimage,2021,144(PtA):128-141.英文參考文獻(xiàn)作者和年份(DeLong,Beanetal.1981,Courchesne,Hesselinketal.1987,CuratoloandCusmai1987,Gaffney,Kupermanetal.1987,GaffneyandTsai1987,Gaffney,Tsaietal.1987,Schifter,Hoffmanetal.1994,BoddaertandZilbovicius2002,Barnea-Goraly,Kwonetal.2004,PalmenandvanEngeland2004,Lainhart2006,Shaw,Greensteinetal.2006,Vidal,Nicolsonetal.2006,Alexander,Leeetal.2007,Courchesne,Pierceetal.2007,Muller2007,Amaral,Schumannetal.2021,Belmonte,Mazziottaetal.2021,Schultz2021,Green,Charmanetal.2021,Harms,Martinetal.2021,Lange,Dubrayetal.2021,Sahyoun,Belliveauetal.2021,Verhoeven,DeCocketal.2021,AnagnostouandTaylor2021,Barnea-GoralyandHardan2021,Groen,Buitelaaretal.2021,Hong,Keetal.2021,Jou,Mateljevicetal.2021,Kana,Murdaughetal.2021,Thomas,Humphreysetal.2021,Uddin2021,Beacher,Minatietal.2021,Billeci,Calderonietal.2021,Chugani2021,Deth2021,Irimia,Chambersetal.2021,KanaandWadsworth2021,Kenet,Orekhovaetal.2021,Kumar,Kimetal.2021,Misaki,Wallaceetal.2021,Ohta,Yamadaetal.2021,Pina-Camacho,Villeroetal.2021,Shen,Shihetal.2021,Travers,Adluruetal.2021,Walker,Gozzietal.2021,Yeatman,Doughertyetal.2021,Barendse,Hendriksetal.2021,BaribeauandAnagnostou2021,Ceritoglu,Tangetal.2021,Dodero,Damianoetal.2021,Ellegood,Babineauetal.2021,Hasan,Walimunietal.2021,LenrootandYeung2021,Mills,Laietal.2021,ModyandBelliveau2021,Sabatino,Rittenbergetal.2021,Shen,Nordahletal.2021,Wallace,Robustellietal.2021,Bos,vanRaaltenetal.2021,Charman2021,EckerandMurphy2021,Erbetta,Bulgheronietal.2021,Gaetz,Bloyetal.2021,Ghanbari,Smithetal.2021,Hanaie,Mohrietal.2021,Kana,Liberoetal.2021,Lai,Lombardoetal.2021,Lazar,Milesetal.2021,Lewis,Evansetal.2021,Libero,DeRamusetal.2021,PetrinovicandKunnecke2021,Retico,Tosettietal.2021,Rojas,Singeletal.2021,Stoner,Chowetal.2021,Travers,Bigleretal.2021,Yeatman,Wandelletal.2021,Yeatman,Weineretal.2021,Zielinski,Priggeetal.2021,Bos,Merchan-Naranjoetal.2021,Chang,Gilmanetal.2021,Conti,Calderonietal.2021,Ecker,Bookheimeretal.2021,GeschwindandState2021,Gori,Giulianoetal.2021,Ha,Sohnetal.2021,Katuwal,Cahilletal.2021,KucharskyHiess,Alteretal.2021,Lee,Rogersetal.2021,Lee,Nordahletal.2021,Libero,DeRamusetal.2021,MahajanandMostofsky2021,Mori,Todaetal.2021,Moseley,Shtyrovetal.2021,NomiandUddin2021,PoldrackandFarah2021,Rane,Cochranetal.2021,Richter,Poustkaetal.2021,Sacrey,Bennettetal.2021,SahinandSur2021,Sun,Allisonetal.2021,Wallace,Eisenbergetal.2021,Wolfe,Auziasetal.2021,Bakken,Milleretal.2021,Bertorelli2021,Caeyenberghs,Taymansetal.2021,Chen,VanHornetal.2021,ConstantinoandCharman2021,Crippa,DelVecchioetal.2021,Dawkins,Meyeretal.2021,Ecker2021,Foss-Feig,McGuginetal.2021,Herringshaw,Ammonsetal.2021,Ismail,Keyntonetal.2021,Katuwal,Baumetal.2021,Katuwal,Baumetal.2021,Ohta,Nordahletal.2021,Parikshak,Swarupetal.2021,Pickles,LeCouteuretal.2021,Riddle,Cascioetal.2021,Samson,Doughertyetal.2021,SchipulandJust2021,Solso,Xuetal.2021,SperdinandSchaer2021,Tu,Hsuetal.2021,Yang,Beametal.2021,Abraham,Milhametal.2021,Balsters,Mantinietal.2021,Bernhardt,DiMartinoetal.2021,Calderoni,Andrewsetal.2021,Cheng,Rollsetal.2021,Conti,Mitraetal.2021,DonovanandBasson2021,Giuliano,Saviozzietal.2021,Hazlett,Guetal.2021,JackandPelphrey2021,Mensen,Wierengaetal.2021,Moradi,Khundrakpametal.2021)中文參考文獻(xiàn)[1]牛麗薇,王佳,陳恒,陳磊,吳瓊,張碧珊,孫彩虹,夏薇,陳華富,付曠,武麗杰.基于體素的孤獨(dú)癥譜系障礙兒童腦灰質(zhì)體積研究[J].中國(guó)學(xué)校衛(wèi)生,2021,37(06):835-838.[2]王龍倫,蔡金華.孤獨(dú)癥譜系障礙的MRI研究進(jìn)展[J/OL].國(guó)際醫(yī)學(xué)放射學(xué)雜志,2021,39(03):241-244.[3]李紅新,馮星,屠文娟,高敏,江凱華,董選.靜息態(tài)功能磁共振在兒童中樞神經(jīng)及精神疾病中的應(yīng)用[J].中國(guó)實(shí)用兒科雜志,2021,31(02):150-154.[4]李詠梅,張?chǎng)?靜進(jìn),梁亞勇,康莊,胡冰.孤獨(dú)癥譜系障礙兒童面孔加工的腦功能磁共振成像[J].中山大學(xué)學(xué)報(bào)(醫(yī)學(xué)科學(xué)版),2021,36(04):496-504.[5]李世俊,王懿,馬林.孤獨(dú)癥兒童多模態(tài)功能MRI研究進(jìn)展[J/OL].中國(guó)醫(yī)學(xué)影像學(xué)雜志,2021,23(05):388-390.[6]朱宗明,湯群鋒,翟曉東,方向明,吳力源,鄒興農(nóng),陳寅