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NeonatalMetabolicscreen:differsbystate
Criterea
1.Highlytreatable
2.Timesensitiveearlydetection/txmorbidity/mortality
Allstates:
Congenitalhypothyroidism
Phenylketonuria(PKU)
Galactosemia
Sicklecellanemia
Circumcision:
Medicalbenefits?:
slightlylower:penilecancer
UTIs(10xs)
10%ofuncircumcisedmalesrequirecircumcisionfor:
Phimosiscantretractforeskin
Paraphimosisretractedforeskinactsasatourniquetobstruction
Balantisinflammationofglandspenis
WellChildCare
Keycomponents:
1.screeningtest
2.preventativemeasures(immunizations)
3.earlydetection&txofacuteillness
4.Growth,development(milestones),sexual
5.Anticipatoryguidancethingscomingup,healthylifestyle
Growth:weight,length,headcircuntil2yo
weight&length=FTT
headcirc=microcephaly(braininsult),macrocephaly(r/o:Hydrocephalus,ICP)
FTT
poorgrowth(<5th%)in:weight,length,headcirc
usualpattern:weightlengthheadcirc
Suspect:<6moolddoesnotgainweightfor23mo
DDx:Think:Calories!
Inadequateintake:chronicdisease,neurologic,neglect(inorganic)
Alteredgrowthpotential:endocrine
CaloricWasting:emesis,malabsorptionRenaltubularacidosis(common)
Increasedcaloricdemand:chronicrespiratorydisease
Microcephaly
Headcirc<10%
Whyconcerned?=microcephalyalwaysassociatedw/smallbrain
Developmentaldelay
Intellectualimpairment
Usuallypresentw/:neurologicaldefect&seizures
DDx:
Congenital:failedmigrationofbraintissue
PrenatalinfectionTORCHeS
Maternaldrugs/toxinsfetalalcoholsyndrome
Chromosomaltrisomies
Acquired:cerebralinsultinlate3rdtrimester,perinatal,1styroflifecerebralinsult(i.e:
hypoxicinjury,infection,etc.)
Macrocephaly
Headcirc>95%
Donotreflectbrainsize
Majorconcernyouwanttor/o:hydrocephalus,ICP
Development/Developmentaldelay=doesntreachdevelopmentalmilestone
http://www.needsforbaby.com/2014/01/infantdevelopmentmilestonesfrom0to12monthsoldbaby.html
Whatsthepoint?=kidscantcommunicateproblemstoussoweneedtofigureitout
Developmentaldelaycausedbydiseaseorenvironment
Orderly,predictablemannersequential(mustdevelopearlierskillstogetnewskill)
Cognition Recognize
parents
Recognize
strangers
(anxiety)
wavebyebye
(recognize&
interact)
Imitateparents understand2
stepcommand
(getthetoy)
Playw/kids
Memorize:1mo,12mo6moisinb/w9moisinb/w6mo,12mo
2yoyrof2s
3yoyrof3s
4yoyrof4s
Numberofblocksstacked=agex3
Redflags:
Persistentfisting>3moage=earliestneuromotorproblem
Earlyrollingover,earlypullingtoastandinsteadofsitting=spasticitiy
Spontaneouspostures(scissoring)=motordeficiets
Earlyhanddominance=weaknessofoppositeextremity
Language+Cognitivedelay=MR
Language(speech)only=hearingimpairmentorcommunicationdisorderormechanicalissue(motor)
Problemsolvingskillsddx:Visualorfinemotor
Discrepancyb/wlanguage&problemsolvingskills=learningdisabilities
TemperTantrum=signoffrustrationorfatiguecanbeasignofpoormotorskillsorproblemsw/
languageproblems
\
MotorDelaymajorconsideration:
Cerebralpalsy!
Language/CognitiveDelaymajorconsideraiton:
MentalRetardation
Behavior&learning:
Pervasivedevelopmentaldisorder(PDD)morecommoninboys
Autism
DifficultyusingLANGUAGE
Decreasedeyecontact
Limitedrangeofinterest
Preoccupationw/objects
Selfinjury
AspergersSyndrome
ImpairmentinsocialinteractionNOTLANGUAGE
ADHD
CF:
Sxbefore7yrs
TRIAD:inattention(cantfocus),hyperactive(excessivetalk,fidget),Impulsive(blurt)
Probelms:difficultylearning,relationships,selfesteem
Mostvalidassessment:severalsources
Management:
1stline:stimulant(methylphenidate,amphetamines)=catecholaminetransmission
SE:GI,insomnia,tics,anorexia,HA,irritable
Nonstimulant:Clonidine(adrenergiccounterstimulanteffects)
Reflexes
SignsofCNSinjury(Neurodegenerative,braintumor,meningitis)
Sustainedprimitivereflex
Delayedposturalreactions
Primitive:
Atbirth,goesaway
DISAPPEARS:
Handgrasp 3mo
Moro(surprise) 4mo
Rooting(nippleseek) 6mo
Babinski 12mo
PosturalReactions:
Acquire,persists
APPEARS:
Keepheadverticle 6mo
Parachute(catchself
whenfall)
9mo
WellChildScreening:
18moautism
Visionscreen:
Leadingcauseofblindnessinchildren:
Trachomainfectiondevelopingcountries,chlamydia
Retinopathyofprematurity
Congenitalcataracts
Hearingscreen
Earlyidentificationisvital!longtermsequaleofEarlyhearinglossimpairedlanguage
development,academic/behaviorproblems
Genetics:80%,AR
Evaluation:
completehx(abexposureAminoglycosides!)
Creatininelevelkidneydiseaseass.w/earproblem(i.e:alport)
Viralserologies(suspectTORCHinfection)
Anemiascreening:
915mo,46yo
Hblevels
Mostcommoncause?=overfeedingw/breastmilknutritionaldef.elsewhere
Leadscreening
<6yomostsusceptibletoeffectsoflead,mostlikelyexposed
RFforleadtox:
Leadpaint,waterfromoutdatedpipes,oldindustrialbuildings
familyoccupation
Acuteleadpoisoning:
CF
CNS:irritable,vomiting,anorexia,lethargy>Progresstoencephalopathy
Abdominal:colickypain
Smear:Microcyticanemia,basophilicstippling
Dx:elevatedserumleadorerythrocyteprotoporphyrin
Chronicleadpoisoning:
Asymptomatic
Lowlevels:longtermNeurologicsequelaedevelopmentaldelay,learning,retardation
CommonBehavioralConcerns:
Colic
10%ofinfants
Cry>3hrs/day,>3days/wk
Health,wellfedbaby!(notcryingb/cunderlyingproblem)
Resolvesby4mo!
R/o:sourcesofpain/discomfort
EncopresisseeGI_pediatrics
Enuresis
Urinaryincontinence(pissself)whenyoushouldbeableto
Etiology:
Strongfamilialtendencygeneonchromosome13
Constipationhardstoolsimpingeonbladder(usuallyw/encopresis)
PE:Perinealsensation,analwinkeflex
NightmaresvsNightterrors
Nightmare=detailedrecall,REMsleep
Nightterror=doesntremember,nonREM
BreathholdingSpells
Involuntary,harmless
Cyanoticspells=frustration/angercryingcyanotic
PallidSpells=unexpected,frighteningeventtriggers
R/o:Dysrthmiaw/EKG(i.e:prolongedQTsyndrome)