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EXAM 1-DEVELOPMENTAL
DISABILITIES
What,is,a,developmental,disability?,-,ans-✔✔- A,severe,,chronic,disability,of,a,person,that,is,attributable,to,a,mental,or,physical,impairme nt,of,a,combination,of,the,two;,is,manifested,before,the,person,is,22,,is,likely,to,continue,ind efinitely What,are,substantial,functional,limits,the,can,be,caused,by,a,developmental,disorder? How,many,needed,to,be,substantially,functionally,limiting,for,it,to,be,classified,as,a,develop mental,disorder? What,is,the,exception,to,the,"3,or,more",rule?,-,ans-✔✔- Limits,in,self,care,,receptive,and,expressive,language,,learning,,mobility,,self- direction,,capacity,for,independent,living,,and,economic,self-sufficiency -3,or,more -People,from,birth,to, 9 ,with,a,substantial,developmental,delay,or,specific,congenital/ acquired,condition,who,has,a,high,likelihood,of,meeting,the,criteria,later,in,life. What,does,a,developmental,disorder,reflect?,-,ans-✔✔- Person's,need,for,a,combination,and,sequence,of,special,,interdisciplinary,or,generic,care, ,treatment,or,other,services,that,are,chronic,or,of,extended,duration,and,are,individually,pla nned,and,coordinated How,do,we,know,if,a,child,has,a,developmental,disorder?,-,ans-✔✔- Compare,child's,abilities,to,those,expected,for,their,same,age,peers Why,should,we,use,person-first,language,(PFL)? What,is,the,caveat? What,should,you,do,about,this,caveat?,-,ans-✔✔- More,accurate,and,respectful,because,individuals,are,not,diagnoses -Words,reflect/reinforce,attitudes,and,perceptions -Descriptive,words,can,perpetuate,negative,stereotypes
These,perceptions,are,barriers,to,the,success,,inclusion,,and,acceptance,of,individuals,wit h,disabilities
The,caveat,is,some,people,want,to,be,called,something,that,doesn't,use,PFL.,Individuals,in ,the,autistic,community,sometimes,like,"autistic",because,it,is,"an,inherent,part,of,their,ident ity" -Ask,each,person,what,they,prefer How,did,Greek,empires,view,disabilities?,-,ans-✔✔- Sparta:,valued,physical,strength,and,intellectual,ability;,infanticide -Athens:,unwanted,newborns,placed,at,temples,or,sold,as,slaves What,did,King,Henry,II,of,England,in,the,Middle,Ages,think,of,developmental,disabilities?,-, ans-✔✔-Declared,"imbeciles",wards,of,the,King Why,were,individuals,with,developmental,disabilities,imprisoned?,-,ans-✔✔- Superstition/witchcraft -Thought,to,be,dangerous,to,society Who,was,the,Father,of,Special,Education?,-,ans-✔✔-Itard -Declared,individuals,with,intellectual,disabilities,can,learn When,did,state,asylums,arise?,What,kind,of,activities,did,patients,do,here?,-,ans-✔✔- 1825-1850.,Thought,that,with,appropriate,therapy,,they,could,be,"cured"
Newspaper,,furniture,making,,quilting,,sewing,,plays,,pottery,,jewelry,,leather,crafts,,religio us,training,,exercise,and,recreation,,farming What,happened,to,asylums,in,the,late,19th,century?,-,ans-✔✔- Overcrowding,of,institutions,results,from,failure,to,"cure" -State,funding,of,asylums,began,to,decline What,is,the,study,of,human,beings,in,relation,to,genetic,inheritance? What,is,how,the,environment,affects,humans?,-,ans-✔✔-Eugenics -Euthenics Describe,Goddard's,Study,of,Kallikak,Family What,concerned,Goddard?,-,ans-✔✔-"Feeble-mindedness,is,hereditary- segregation,through,colonization,is,the,way,to,eliminate,social,ills" -Found,that,70%,of,mental,deficiency,due,to,inheritance -Criminal,implications,concerned,him,,which,made,him,a,proponent,of,sterilization
nitive/ emotional,functions,of,the,brain,which,evolved,in,response,to,a,need,for,variation,in,group, approaches,to,survival -No -No How,many,people,with,autism,have,savant,skills?,-,ans-✔✔-1/ What,model,of,disability,sees,disability,as,resulting,from,a,poor,fit,between,the, (physical,,cognitive,,or,emotional),characteristics,of,a,given,individual,and,the,characteristi cs,of,their,social,context? Why,does,this,view,think,a,person,is,disabled?,-,ans-✔✔-Social,model,of,disability
Thinks,they,are,disabled,not,by,their,impairment,,but,by,the,failure,of,their,environment,to,a ccomodate,their,needs How,does,the,medical,model,view,disability?,-,ans-✔✔- Assumes,that,disability,is,inherent,to,individual,and,must,be,fixed Functional,limitations/impairments,+,Physical/Social,barriers,=,?,-,ans-✔✔- Disabling,environments
Social,model,of,disability:,Inability,to,participate,fully,in,home,and,community,life,,not,inher ent,to,the,individual How,do,the,disorder,and,neurodiversity,paradigm,contrast,each,other?,-,ans-✔✔- Disorder:,Wants,to,"fix",what,is,wrong,with,the,person.,Intervention,in,deficit -Neurodiversity:,Intervene,in,the,context,,don't,fix,the,person What,is,expecting,to,be,treated,differently,because,of,stigma?,-,ans-✔✔- Stigma,consciousness -Poor,beliefs,about,self,due,to,stigmatization What,can,stigma,consciousness,lead,to?,-,ans-✔✔-Poorer,academic,performance -Lower,sense,of,belonging -Greater,anxiety -Poor,mental,health What,are,internalize,views,of,stigma,one,imposes,on,themself?,-,ans-✔✔-Self-stigma Contrast,a,traditional,classroom,and,a,UDL,classroom.,-,ans-✔✔-Traditional Teaching,focuses,on,the,content,of,what,is,being,taught Accomodations,for,specific,students Classroom,has,a,fixed,setup Only,one,way,for,a,student,to,complete,an,assignment
Grades,measure,performance -UDL Focus,on,content,and,how,it's,taught Accommodations,for,all,students Teacher,works,with,student,to,decide,how,they,will,learn Multiple,ways,to,complete,an,assignment Grades,reinforce,goals What,are,the,differences,between,genotype,and,phenotype?,-,ans-✔✔ How,many,chromosomes,do,we,have? What,do,they,look,like? Where,do,they,come,from?,-,ans-✔✔- Where,does,meiosis,occur,and,what,is,the,result?,-,ans-✔✔-Occurs,in,the,germ,cells, (egg,,sperm) -The,result,is, 4 ,daughter,cells,with, 23 ,chromosomes What,are,the,four,steps,of,mitosis?,Describe. How,long,does,it,take?, What,phase,do,most,cells,stay,in? What,is,the,purpose?,-,ans-✔✔-Prophase:,Chromies,line,up -Metaphase:,Chromies,attach,at,the,centromere -Anaphase:,Chromies,are,pulled,apart -Telophase:,Cells,split -Takes,about,1-2,hours,to,complete -Interphase -Growth;,replace,damaged,or,worn,out,cells Why,are,abnormalities,more,severe,if,they,occur,during,meiosis?,-,ans-✔✔- A,specific,egg,or,sperm,has,the,abnormality,,which,when,fertilized,with,either,an,egg,or,spe rm,will,result,in,an,organism,with,the,abnormality,in,all,cells What,is,nondisjunction?, What,are,some,examples,of,disorders,caused,by,it? How,common,is,trisomy,as,a,result,of,nondisjunction,during,meiosis,in,oogenesis?,-,ans- ✔✔-Chromies,divide,unequally,during,meisosis/mitosis -Klinefelter,Syndrome,(XXY) -Turner,Syndrome,(X0) -Down,Syndrome,(Trisomy,21)
Intellectual,disability,,delayed,development,,microencephaly,,hypotonia 1 ,in,50, -Microdeletion,Syndrome Williams,Syndrome Hemideletion,of,26-28,genes,on,chromosome,7q11. Intellectual,disability,,distinct,faces,,cardiac,defect,,distinct,cognitive,profiles,, 1 ,out,of,7, Detected,by,chromosomal,microarray Smith-Magenis,syndrome VCFS,syndrome What,are,mutations?, When,does,the,likelihood,of,them,increase? What,happens,to,person's,genetic,code,once,they,occur? What,are,some,examples,of,mutations?,-,ans-✔✔- Alteration,in,the,DNA,that,usually,occurs,during,mitosis,or,meiosis,and,alters,gene,express ion -Likelihood,of,mutations,increases,with,the,size,of,the,gene -They,usually,become,a,part,of,the,person's,genetic,code -Point,mutations:,Most,common.,Single,base,pair,substitution Missense,mutation:,results,in,change,to,the,triplet,code,that,substitutes,a,different,amino,a cid,in,the,protein,chain Nonsense,mutatation:,Single- base,pair,substitution,produces,a,stop,codon,that,prematurely,terminates,protein,formatio n What,is,an,example,of,a,disorder,caused,by,a,missense,mutation?,-,ans-✔✔- Phenylketonuria,(PKU) Single-base,substitution,causes,an,error,in,the,production,of,phenylalanine,hydroxylase, (enzyme,for,phenylaline,metabolism)., Causes,an,accumulation,of,phenylaline-->,can,cause,brain,damage What,is,an,example,of,a,disorder,caused,by,a,nonsense,mutation?,-,ans-✔✔- Neurofibromatosis-1,(NF1)
A,tumor,suppressor,,neurofibromin,,is,not,formed.,As,a,result,,multiple,benign,neurofibrom a,tumors,form,on,the,body,and,the,brain -Highly,associated,with,ADHD How,do,insertions/deletions,of,one,more,nucleotide,bases,affect,protein,production?
What,are,examples,of,disorders,caused,by,insertions,or,deletions?,-,ans-✔✔- Can,cause,a,frame,shift,(three-based,pair,reading,frame,is,shifted) -All,following,triplet,codes,are,misread,,which,often,leads,to,a,stop,codon Fukuyama,congenital,muscular,dystrophy,(insertion) Duchenne,muscular,dystrophy,(deletion,of,the,dystrophin,gene) Certain,Tay-Sachs,diseases Describe,Tay-Sachs,Syndrome.,-,ans-✔✔-Autosomal,recessive,disorder -Absence,of,enzyme,hexosaminidase,A -Symptoms,show,around,3-6,months -Start,losing,hearing,and,sight -Start,losing,muscle,function -Seizures -Slow,growth -Life,span,of,about,4-6,years Describe,Fragile,X,Syndrome.,-,ans-✔✔- Trinucleotide,repeat,expansion,of,the,CGG,in,the,fragile,X,mental,retardation,gene,(FMR1) -Long,faces,,large,ears,,delayed,puberty What,kind,of,mutation,leads,to,Rubinstein-Taybi,syndrome?,-,ans-✔✔- Mutation,in,the,transcription,gene, -Leads,to,congenital,malformations,and,severe,intellectual,disability How,do,genetic,diseaases,enter,populations?,-,ans-✔✔-Through,mutation,errors What,is,the,0.1%,difference,in,the, 3 ,million,DNA,sequence,variations,that,humans,have,cal led? What,does,this,genetic,variation,contribute,to? Some,of,these,can,put,people,at,greater,risk,of,what?,-,ans-✔✔-Single- nucleotide,polymorphisms,(SNPs) -Contributes,to,evolution -Alzheimer's,disease,and,Crohn's,disease What,are,mendelian,disorders?,-,ans-✔✔-Diseases,caused,by,single-gene,defects -Autosomal,recessive,,autosomal,dominant,,X-linked What,are,the,differences,between,dominant,and,recessive,disorders?,-,ans- ✔✔Recessive: Type,of,disorder:,Enzyme,deficiency Examples:,Tay-Sachs;,PKU Carrier,expresses,disorder:,No -Increased,risk,of,inheritance,from,consanguinity:,Yes Dominant:,
What,is,the,increased,risk,of,expansion,of,a,trinucelotide,repeat,expansion,from,one,gener ation,to,another,called?,-,ans-✔✔-Anticipation -Huntington's,Disease;,Fragile,X,Syndrome Describe,epigenetics,in,terms,of,gene,expression. What,is,a,human,imprinting,disorder?,-,ans-✔✔- Changes,to,expression,that,do,not,modify,DNA,sequence
Genomic,imprinting:,Activity,of,the,gene,is,modified,depending,upon,the,sex,of,the,transmit ting,parent, -Imprinted,genes,show,expression,from,only,one,allele,(the,other,is,silenced) -Prader- Willi,Syndrome:,Paternal,deletion,in,chromosome, 15 ,or,by,maternal,uniparental,disomy,wh ere,both,chromosomes,come,from,the,mother.,Or,,both,copies,are,imprinted,as,if,they,cam e,from,the,mother. What,tests,are,used,to,detect,genomic-based,causes,of,developmental,disabilities? What,about,inborn,errors,of,metabolism? What,about,epigenetic,disorders?,-,ans-✔✔-Chromosomal,microarray Test,for,known,DNA,sequences,and,can,detect,microdeletions/microduplications, (William's,Syndrome).,1st,line,test,for,children,presenting,with,developmental,delays,or,aut ism Does,not,detect,mutations Next-generation,sequencing -Detects,mutations,in,a,single,gene,(NF1) Whole-exome/genome,sequencing -Exome:,Identify,gene,alterations,all,at,once,than,looking,at,each,gene -Genome:,Identifies,structural,and,non-coding,variants,associated,with,disease -Measuring,how,much,a,specific,compound,accumulates,in,the,body -Examine,DNA,methylation,patterns How,do,environmental,factors,affect,inherited,traits?,-,ans-✔✔- The,outcome,of,hereditary,depends,upon,the,environment,in,which,development,occurs, (reaction,range) -PKU:,can,mitigate,intellectual,disability,by,refraining,from,eating,protein What,are,the,genetic,therapies,used,to,treat,genetic,disorders?,-,ans-✔✔- Exon,Skipping:,form,of,RNA,splicing,that,causes,cells,to,"skip",over,faulty,sections,of,the,g enetic,code-->,truncated,yet,functional,protein
-Gene,Therapy:,Normal,gene,copies,infused,into,DNA,to,"replace",the,defective,gene -Gene,editing:,CRISPR/ Cas9,cuts,the,gene,at,the,point,of,the,mutation,and,replaces,it,with,the,correct,gene,seque nce When,assessing,reproductive,risk,in,genetic,testing,,what,must,you,always,review?,-,ans- ✔✔-Medical,History -Pregnancy,History -Family,Medical,History, (birth,defects,,genetic,disorders,,unexplained,infant,deaths,,pregnancy,loss) -Maternal,Medication,Use -Occupational/Environmental,Exposures -Ethnic,Background Why,are,there,high,risks,of,disorders,within,ethnicities?,-,ans-✔✔- Intermingle,of,people,within,cultures/country What,what,the,trimesters?,-,ans-✔✔-,0-12,weeks:,1st,trimester
- ,13-26,weeks:,2nd,trimester
- , 27 ,+,:,3rd,trimester What,screens,are,offered,to,all,pregnant,women?,-,ans-✔✔- Carrier,screening,for,fragile,X,syndrome,,SMA,,hemoglobinapthies,,cystic,fibrosis -First-trimester,ultrasound -First-trimester,maternal,serum,screening -Fetal,echocardiogram -Cell-Free,DNA/NIPT,screening -Second-trimester,maternal,serum,screening -Second-trimester,ultrasound -MRI What,kind,of,testing,is,used,for,women,over, 35 ,to,detect,chromosomal,abnormalities?,-,an s-✔✔-Chorion,villus,sampling What,is,Cell- free,DNA,noninvasive,prenatal,screening,and,how,does,it,differ,from,maternal,serum,scree ning?,-,ans-✔✔- During,pregnancy,,fetal,DNA,fragments,from,the,fetus,are,present,in,the,mother's,blood., -1st,line,test,for,mother's,at,increased,risk,of,aneuploidy -Screens,for,trisomy,21,,18,, 3
Be,done,as,early,as, 9 ,weeks;,higher,positive,predictive,value,for,trisomy,21,,18,, 3 ,than,any, 1st,or,2nd,trimester,screening;,screens,for,other,genetic,abnormalities, (triploidy,,sex,chromosome,abnormalities,,some,microdeletion,syndromes)
-Used,for,chromosome,analysis,,enzyme,assay, (inborn,error,of,metabolism),,molecular,DNA,analysis, (identify,specific,mutations,that,cause,genetic,disorders),,chromosome,microarray,analysi s
Guided,by,an,ultrasound,,a,biopsy,is,performed,either,through,suction,through,a,small,cath eter,passed,into,the,cervix,of,using,a,needle,to,aspirate,the,abdominal,wall/uterus. -Safest,invasive,procedure,before, 14 ,weeks,(during,first,trimester) What,is,a,fetal,echocardiogram? When,can,it,be,performed? What,does,it,screen,for? How,is,it,performed? Why,is,it,done?,-,ans-✔✔-Done,as,early,as, 11 ,weeks,,should,be,repeated,at,18-20,weeks, -Evaluating,fetuses,with,an,increased,risk,of,congenital,heart,disease, (increased,nuchal,translucency,,exposure,to,teratogens,,first- degree,affected,relative,,known/ suspected,chromie,abnormality,,extra,cardiac,abnormality) Evaluates,structure,and,function,of,the,fetal,heart/monitors,blood,flow -Identification,and,affect,in,utero,management,,delivery,options,,and,neonatal,intervention What,is,2nd,trimester,maternal,serum,blood,screening? When,can,it,be,performed? What,does,it,screen,for? How,is,it,performed? Why,is,it,done?,-,ans-✔✔-16,weeks,(must,know,gestational,age) -Quad,screen:,AFP;,beta-hCG,,unconjugated,serum,estriol,,inhibin
Combination,with,first,trimester,screening,,this,screening,can,increase,detection,of,trisomy , 21 ,by,95% -Can,also,assess,risk,of,neural,tube,defects,,such,as,spina,bifida,and,anencephaly, (tests,AFP),,abdominal,wall,defects,,and,trisomy, 18
Done,because,any,increased,risk,of,fetal,abnormality,warrants,an,amniocentesis,and,detai led,ultrasound What,is,2nd,trimester,ultrasound? When,can,it,be,performed? What,does,it,screen,for? How,is,it,performed?, Why,is,it,done?,-,ans-✔✔-Real-time,ultrasonography,(2/3,of,women) -Done,at,18-20,weeks -Structural,abnormalities, (neural,tube,defects,,abdominal,wall,defects,,facial,clefts,,renal,anomalies,,skeletal,anoma lies,,brain,anomalies,,and,CHD)
-Must,be,used,in,conjunction,with,other,diagnostic,testing,for,making,a,diagnosis
Done,because,if,an,abnormality,is,suspected,,a,fetal,echocardiogram,or,MRI,may,help,clar ify,diagnosis,and,assist,in,management What,is,a,fetal,echocardiogram,in,the,second-trimester? When,can,it,be,performed? What,does,it,screen,for? How,is,it,performed? Why,is,it,done?,-,ans-✔✔-18-22,weeks,(heart,size,of,adult,thumbnail) -Assess,CHD -Done,because,specific,risk,factors,or,other,chromosomal,anomalies,have,been,identified
When,CHD,is,identified,in,utero,,detailed,ultrasound,is,utilized,to,identify,any,additonal,chr omosome,abnormalities Can,have,critical,CHD,(one,most,associated,with,chromie,abnormality),or,isolated,CHD., Critical,CHD,puts,children,at,risk,of,developmental,delay,or,cognitive,impairment If,CHD,is,identified,,genetic,counseling,and,diagnosis,via,amniocentesis,should,ensue What,is,amniocentesis? When,can,be,performed? What,does,it,screen,for? How,is,it,performed? Why,is,it,done?,-,ans-✔✔-15-20,weeks
Done,under,ultrasound,guidance.,Needle,inserted,just,below,the,mother's,umbilicus,and,th rough,the,abdominal,and,uterine,walls., 1 ,to.2,ounces,of,amniotic,fluid,is,aspirated., -Advantage,over,maternal,serum,screening/CVS-- >,assess,amniotic,fluid,directly,for,abnormal,biochemical,compounds -Can,test,AFP,(neural,tube,defects,,and,fetal,infections,(CMV,and,toxoplasmosis)- What,is,a,second,trimester,MRI? When,can,it,be,performed? What,does,it,screen,for? Why,is,it,done?,-,ans-✔✔-17,weeks
- ,Corpus,collosum,,chiari,malformations,,airway
- ,Aid,in,understanding,ultrasound,findings Why,would,women,be,referred,to,a,fetal,echocardiogram,or,a,fetal,magnetic,resonance,im aging,during,pregnancy?,-,ans-✔✔Echocardiogram: Family,history,,increased,nuchal,translucency,,exposure,to,teratogens,,maternal,diabetes/ lupus,,extra,cardiac,abnormality,,or,other,chromosomal,abnormality,noted,by,ultrasound-- >,assoc.,with,CHD
ing,to,consider,pregnancy,termination?,-,ans-✔✔-Preimplantation,genetic,diagnosis, (PGD) Use,of,next-generation,sequencing,to,analyze,DNA,sequence,differences What,are,the,two,options,of,PGD?,-,ans-✔✔- Polar,body,testing:,When,oocytes,undergo,their,first,meiotic,division,,a,polar,body,is,forme d, (test,the,polar,body).,Sperm,fertilization,produces,another,polar,body,which,you,also,test., Only,unaffected,embryos,are,implanted,in,mother,(used,when,mother,is,a,carrier)
Blastomere,analysis:,Perform,IVF,on,oocytes,without,testing,polar,bodies,and,allow,them,t o,divide,in,a,culture,up,to,the,8th,cell,division.,Single,cell,is,dissected,from,the,blastomere,t hat,has,developed,to,perform,DNA,analysis.,Only,unaffected,embryos,are,implanted, (when,father,or,mother,are,a,carrier) When,using,PGD,,should,you,get,a,confirmatory,prenatal,diagnosis,via,CVS,or,amniocent esis? What,should,couples,know,when,considering,ART?,-,ans-✔✔Yes
Get,detailed,information,regarding,techniques,used,,risk,of,misdiagnoses,,risk,of,another,a nomolies,,cost,,success,rate,,risk,of,multiple,gestations What,is,used,to,identify,embryos,with,highest,implantation,potential?,-,ans-✔✔- Proteomics What,is,postmenstrual,age? What,is,gestational,age? What,is,chronological,age? What,is,corrected,age?,-,ans-✔✔-Postemenstrual:,Gestational,age,+,chronological,age -Gestational:,Weeks,since,the,first,day,of,the,last,menstrual,period,at,birth -Chronological:,Weeks,since,birth,at,assessment -Corrected:,Weeks,since,expected,birth,date,at,assessment What,is,the,primary,rationale,for,screening,newborns?,Describe,a,scenario,when,a,screeni ng,test,might,be,important.,-,ans-✔✔- Detect,diseases,before,symptoms,present,clinically,because,some,of,the,illnesses,may,ca use,severe,disability,or,death,later,in,life For,which,disorders,are,screenings,available?, How,is,the,screening,completed?,-,ans-✔✔-Hearing,loss:,Done,at,point-of- care.,Goals:,identify,all,children,with,permanent,hearing,loss,by,age,3;,intervene,before, 6 , months;,establish,medical,home,for,infants;,track,data,for,public,health,initiatives
-CCHD:,critical,defects,that,can,cause,developmental,disability,and,death.,Heart,defects-- >,Low,level,of,O2.,Use,pulse,oximetry,screening, (monitory,blood,saturation, 24 ,hours,after,birth) -Congential,hypothryoidism, (Endocrine,disorder):,Produce,inadequate,thyroid,hormone.,Untreated-- >,severe,growth,problems,and,atypical,brain,development, (serious,lifelong,intellectual,disability).,Treated,with,thyroid,hormone,replacement -HIV, (Infectious,disease):,Goal:,suppress,virus,with,antiretroviral,therapy,to,prevent,AIDS.,Preg ant,women,can,be,screened,and,if,they,have,it,they,can,get,ARV,to,prevent,vertical,transmi ssion -Congenital,toxoplasmosis,(Infectious,disease):,Multisystem,disease, (seizures,,visual,impairments,,and,intellectual,disability) -Severe,Combined,Immunodeficiency,(SCUID)-- Immune:,Combination,of,disorders,that,leads,to,death,because,of,infections.,Benefit,from, hematologic,stem,cell,transplantation
Metabolic,Disorders:,Accumulation,of,atypical,substances,due,to,atypical,functioning,of,a,p rotein Amino,Acid,Disorders:,PKU.,Early,ID-->,protein-restricted,diet.,If,not,,big,damage,to,CNS Fatty,Acid,Oxidation,Disorders:,MCAD.,Body,not,metabolizing,fat,in,periods,of,fasting-- >,children,can,become,hypoglycemic,and,suffer,permanent,brain,damage.,Frequent,feedi ngs,recommended Describe,the,differences,between,screening,tests,and,diagnostic,tests.,When,and,why,is,e ach,type,of,testing,performed?,-,ans-✔✔- Screening:,Tell,the,chances,that,a,fetus,will,have,certain,genetic,disorders -Diagnosis:,Can,tell,whether,the,baby,actually,has,a,certain,genetic,disorder Describe,how,newborn,screening,is,conducted.,-,ans-✔✔- Collect,blood,sample,from,heel,prick,after, 24 ,hours,so,the,infant,can,eat,(Guthrie,test) -Paper,sent,to,lab,and,a,tandem,mass,spectrometer,(MS/ MS),analyzes,the,samples,and,is,a,very,sensitive,test -If,initial,test,comes,back,atypical,,second- tier,testing,is,conducting,and,may,involve,genetic,testing,and,increases,sensitivity,of,the,te st. Why,would,a,screening,test,give,a,false- positive,result?,What,kind,of,challenge,does,this,pose,for,a,family?,-,ans-✔✔-
-William's,syndrome,,dyslexia,,Down,Syndrome -Interaction What,is,a,teratogen? What,principles,are,used,to,determine,it's,effects?,-,ans-✔✔- An,environmental,agent,that,causes,malformations,to,the,embryo Principles:,TGDPQ Effects,on,development,depend,on,TIMING-,First, 3 ,months,of,pregnancy,,more,risk Effects,depend,on,GENETIC,MAKEUP,of,the,exposed,organism There,is,a,DOSE/RESPONSE,RELATIONSHIP Effects,can,be,due,to,PARENTAL,EXPOSURE Effects,of,long,term,exposure,depend,on,Quality,of,postnatal,environment Why,are,children,at,greater,risk,of,teratogens?,-,ans-✔✔-Higher,hand-to-mouth,activity -Increased,absorption,rates -Immature,blood-brain,barrier -Not,efficient,at,removing,to,toxins,leading,to,accumulation,over,time What,is,the,term,used,for,maternal,to,fetal,circulation,via,placenta? What,is,the,term,used,for,maternal,genital,tract,through,cervix,and,across,amniotic,membr anes? What,is,the,term,used,for,transfer,during,delivery,through,cervix?,-,ans-✔✔-Transplacental -Ascending -Perinatal What,is,thalidomide?,-,ans-✔✔-Drug,in,the,1950s,and,1960s,to,relieve,pregnancy,nausea Exposure,34-38,days:,no,ears Exposure,38-47,days:,deformed,arms Exposure,40-46,days:,deformed,legs What,is,toxoplasmosis? How,do,you,acquire,it? Is,it,noticeable,in,adults? What,can,happen,to,an,embryo?,-,ans-✔✔-Parasite -Uncooked,meat;,Cat,feces -No -Blindness,and,brain,damage What,is,CMV? When,does,it,cause,major,problems? What,are,symptoms?,(7),-,ans-✔✔-Cytomegalovirus,(Herpes) -Developing,embryo/fetus Microcephaly,(small,head)
Seizures Jaundice Anemia Hearing,loss Blindness ID What,are,the,effects,of,lead,poisoning?,Can,it,be,prevented?,-,ans-✔✔- Anemia,,kidney,damage,,neurocognitive,impairments,,peripheral,neuropathy,,ADHD,,lear ning,difficulties -Disrupts,neurotransmission,,synaptogenesis,,synaptic,trimming,,and,myelination -Alter,gene,expression,in,the,brain,leading,to,inflammatory,damage -Chelation,therapy,is,used,to,remove,heavy,metals,from,the,body,(does,not,prevent,it) How,can,nicotine,cause,damage,to,a,fetus,during,pregnancy?,-,ans-✔✔- Decreases,O2,delivery,,increases,blood,flow,resistance,,and,decreases,nutrient,supply -Cause,atypical,cell,proliferation,,differentiation,,and,synaptic,activity,in,the,brain -Low,birth,weight,(less,growth)and,preterm,birth -Increase,risk,of,obesity,,hypertension,,asthma,,and,impaired,lung,function,in,children -Associated,with,changes,in,DNA,methylation,patterns How,can,second-hand,tobacco,smoke,be,damaging,to,children?,-,ans-✔✔- Increase,of,SIDS,,neurodevelopmental,and,behavior,disorders,,sleep,disruption,,and,respi ratory,disease -ADHD What,is,methylmercury? What,are,it's,effects?, What,is,the,mechanism,of,action?,-,ans-✔✔- Neurotoxin,that,is,released,into,the,environment,from,rock,,burning,of,fossil,fuels. -Elemental,form:,vaporized,and,can,be,inhaled
Inorganic,form:,converted,by,naturally,occurring,biologic,processes,into,organic,methylme rcury,(lethal) -Found,in,fish,,thermometers,,fluorescent,lighting
Prenatal,exposure,can,lead,to,brain,damage,,microcephaly,,seizures,,cerebral,palsy,,and, cognitive,impairments
Mechanism:,dependent,on,timing,and,dose,of,exposure,and,includes,widespread,damage, to,blood-
