一年之计在于春

SECTION1第一部分

Clinicalpresentation.A13-year-oldgirlreferredfrompsychiatryhada3-yearhistoryofdecliningschoolperformanceandbehavioralchange.Shewaspreviouslyahighachieveracademically,andwashealthyuntilage10years.Overseveralmonths,sheshoweddeteriorationinschoolworkandbecamesociallywithdrawn,culminatinginsignificantintellectualdisabilityrequiringresourcehelpandconstantsupervision.Atage13years,shepresentedwithafrontallymediatedbehaviorpatterncharacterizedbyagitation,poorself-awareness,perseverationofspeechandaction,impairedworkingmemory,poorsequencing,motorrestlessness,andapathy.Shealsoexhibitedecholalia,self-mumbling,forgetfulness,andemotionallability.Finemotorskillsdeterioratedandshewasgenerallyclumsy.Medical,birth,andfamilyhistorieswerenoncontributory(shehad2healthysiblings).Duringexamination,shebehavedimmaturelyandwasdisinhibitedandemotionallylabile.Examinationofoutstretchedarmsrevealedsubtlemyoclonicjerks(videoontheNeurology?WebsiteatNeurology.org).Neurologicexaminationwasotherwisenormal,includingfunduscopy.

病史资料：13岁女孩，因“学习成绩下降及行为异常3年”由精神科转诊而来。在10岁前患者学习成绩优异，既往体健。几个月内，患者出现成绩下降、社交障碍，最终出现智力障碍并需要他人帮助和持续监管。13岁时患者出现如前所述症状，以“焦虑、自我认知差、持续言语和动作、工作记忆受损、排序能力差、多动、情感淡漠”为行为模式特征。同时患者出现模仿言语、喃喃自语、健忘和情绪不稳，精细运动变差且动作笨拙。既往病史、出生史、家族史（患儿有2个健康的同胞）无特殊。在体格检查中，患者行为幼稚且情绪焦虑易怒。伸展手臂可诱发细微的肌阵挛抽搐（见视频资料）。余神经系统查体无异常，眼底检查正常。

Questionsforconsideration:

1.Howwouldyouclassifythispresentation?

2.Whatisyourinitialapproachtoinvestigations?

思考问题：

1.根据以上描述你会如何对该疾病分类鉴别？

2.你的初步检查评估策略是什么？

SECTION2第二部分

Diseasecategorization.Neurodevelopmentalregression(progressiveintellectualandneurologicdeterioration)mayoccurinpreviouslyhealthychildrenorinchildrenwithpreviouslypresumedstaticencephalopathies/developmentaldelaywheretheregressionhasnotyet