S
Kind & ontwikkeling
,AnamneseenLichamelijkOnderzoek.......................................................................................7
Hetgeval..................................................................................................................................7
Landschaphetgeval................................................................................................................8
LOanorexie,rash,hoest........................................................................................................11
ErgziekofnietILLofABCD..................................................................................................15
Hersenen&ontwikkeling..........................................................................................................22
Ontwikkelingvanhetbrein.....................................................................................................22
Ontwikkelingsdomeinen.........................................................................................................28
Alarmsignalen........................................................................................................................33
Conclusie...............................................................................................................................35
QUIZ......................................................................................................................................36
Adaptatienadegeboorte:vanfoetusnaarneonaat..............................................................46
Inleiding.................................................................................................................................46
Casus.....................................................................................................................................47
Degeboortekomtopgang….................................................................................................50
Transitie.................................................................................................................................53
Respiratoiretransitie..............................................................................................................53
Wrapupdeel1......................................................................................................................56
Circulatoiretransitie...............................................................................................................56
Metaboletransitie..................................................................................................................61
TAKEHOMEMESSAGES.....................................................................................................63
GIkinderchirurgie,deembryologieenzijngevolgen............................................................64
EmbryologievanhetGIstelselineennotendop...................................................................64
Nogbuikwanddefecten.........................................................................................................67
Indelingpathologieën.............................................................................................................69
Embryologievandeslokdarm...............................................................................................70
Embryologievanduodenum..................................................................................................74
Embryologievandeanus......................................................................................................82
Semiologiegastro-intestinaalstelselneonaatenhetgebruikvanRxabdomenoverzicht87
Gastro-intestinalesymptomenneonaat.................................................................................87
Braken...................................................................................................................................88
Bloedinontlastingbijneonaat...............................................................................................92
Geenstoelgangindeeerstedagen.......................................................................................93
Opdrachtcongenitaleafwijkingenurogenitaletractusenzindelijkheid..............................99
Casus.....................................................................................................................................99
Embryologieenfunctioneleontwikkelingvandeurogenitaletractus(ZS1)....................101
Congenitaleafwijkingenvandenierenenurinewegen.......................................................106
Ontwikkelingvdnierfunctiein1elevensjaar(ZS2).............................................................114
Deorganisatievanheturogenitaalsysteem:eenkorteherhaling.......................................114
Ontwikkelingvanrenalefunctiesbijpasgeboreneenzuigeling...........................................114
Ontwikkelingvanderenaletubuli........................................................................................118
2
, Ontwikkeling van de blaasreservoirfunctie en de blaaslediging: zindelijkheidsproblemen
( HC3)........................................................................................................................................126
Functievandeblaas............................................................................................................126
Zindelijkheidsproblemen(incontinentia)bijkinderen...........................................................130
Urinarytractinfections.........................................................................................................134
Bedplassen(Bedwetting:Bladder,KidneyorBrain?)..........................................................140
Conclusies...........................................................................................................................142
Inleidingtotdefarmacodynamiekbijhetkind......................................................................143
A.Farmacokinetiek…..........................................................................................................143
B.Farmacodynamie.............................................................................................................152
Besluit..................................................................................................................................157
Vaccinatiegeneeskunde:kliniekvantevoorkomenziekten,exantheemziekten..............158
Overview..............................................................................................................................159
Diseasespreventablebycurrentvaccines..........................................................................160
Exanthematousdiseases.....................................................................................................164
Typicalexanthemas.............................................................................................................165
Atypicalexanthemas:enteroviruses....................................................................................174
Circulatoireveranderingenbijdegeboorteencongenitalehartaandoeningen................178
Etiologie...............................................................................................................................178
Embryologie.........................................................................................................................179
Timingcardialeproblemen...................................................................................................181
CHD:presentatie.................................................................................................................182
Voornaamstehartafwijkingen...............................................................................................186
Rechtslinksshunts-Cyanogeneafwijkingen.....................................................................190
CommonmixingAVSD........................................................................................................195
Outflowobstruction..............................................................................................................196
CHDconclusies...................................................................................................................199
Icterusvdpasgeborene:eenfysiologischvbvanaanpassingahextrauterieneleven(ZS)..
200
Bilirubine..............................................................................................................................200
IndirecteHyperbilirubinemie................................................................................................201
Indirectehyperbilirubiemie...................................................................................................206
DirecteHyperbilirubinemie-Oorzaken................................................................................206
AlarmsignalenbijIcterusNeonatorum!...............................................................................208
LaboInvestigaties................................................................................................................208
Conclusie.............................................................................................................................210
AlgoritmevoordeevaluatievanIcterusNeonatorum..........................................................210
Evaluatievanontwikkeling(ZS).............................................................................................212
Evaluatievanontwikkeling...................................................................................................212
Screening.............................................................................................................................213
Formeleontwikkelingstesting=assessment.......................................................................215
3
,Watalshetmisloopt?(ZS)......................................................................................................218
Overzicht..............................................................................................................................218
Benaderingvankindmetontwikkelingsvertraging...............................................................219
Cognitie-verstandelijkebeperking......................................................................................225
Motorischeontwikkeling.......................................................................................................226
Taalontwikkeling...................................................................................................................230
Sociaal-emotioneleontwikkeling&gedrag..........................................................................230
Schoolsevaardigheden.......................................................................................................233
Borstvoeding............................................................................................................................234
Anatomievandeborst.........................................................................................................234
Fysiologievandelactatie....................................................................................................235
Hetzuigenaandeborst.......................................................................................................235
Begeleidingbijborstvoeding................................................................................................236
Problemenmetdeborstvoeding..........................................................................................237
Voordelenvanborstvoedinggeven.....................................................................................240
Onderzoek...........................................................................................................................241
Contra-indicatieborstvoeding..............................................................................................241
Overigeaspecten.................................................................................................................242
Vocht-dehydratie-gastroenteritis.......................................................................................245
Waterinlichaam..................................................................................................................245
Dehydratie...........................................................................................................................246
Acutegastro-enteritis...........................................................................................................248
KlinischeAanpakvanPersisterendeDiarreebijJongeKinderen......................................252
AanpakvanPersisterendeDiarree......................................................................................253
SamenvattingAanpakPersisterendeDiarree......................................................................255
Voedingvanhetgezondekind...............................................................................................256
Inhoud..................................................................................................................................256
Zuigeling..............................................................................................................................256
Borstvoeding........................................................................................................................258
Flesvoeding.........................................................................................................................259
Diversificatie........................................................................................................................262
Voedingbijpeuters&kleuters.............................................................................................266
Peuterdiarree.......................................................................................................................268
Voedingbijlagereschoolkinderen.......................................................................................269
Voedingbijadolescenten.....................................................................................................270
Moeilijkeetertjes..................................................................................................................271
Inleiding tot dysmorfologie: anamnese en klinisch onderzoek van het kind met
aangeborenafwijkingen..........................................................................................................273
Watdoeteenklinischgeneticus?........................................................................................273
Tijdspadvaneengenetischecounseling.............................................................................274
Aangeborenafwijkingen:diverseindelingen.......................................................................275
4
, ysmorfologischonderzoek................................................................................................278
D
Erfelijkvsnieterfelijk...........................................................................................................284
Takehomemessage............................................................................................................289
Groeienpuberteit....................................................................................................................290
Groeistadia:PRENATAAL....................................................................................................290
Groeistadia:POSTNATAAL.................................................................................................293
EVALUATIEVANDEGROEI...............................................................................................298
Oorzakenkleingestalte.......................................................................................................300
Grotegestalte:oorzaken.....................................................................................................306
Puberteit(ZS)...........................................................................................................................309
Definitie................................................................................................................................309
Variabiliteitintimingentempo.............................................................................................309
Fysiologie:hypothalamo-hypofysaire-gonadaleas..............................................................310
Puberteitsstadia,klinischescore.........................................................................................313
Pubertaspraecox.................................................................................................................314
Pubertastarda.....................................................................................................................317
Hielprikscreening....................................................................................................................319
Algemeneinleiding..............................................................................................................319
Hielprikscreening.................................................................................................................319
Hielprikscreening:algemeen(!)...........................................................................................320
Voor-ennadelenvanneonatalescreening.........................................................................336
Toekomstperspectieven.......................................................................................................337
Takehomemessagesentoekomstperspectieven...............................................................337
ChirurgischeaanpakvancongenitaleafwijkingenvandeUro-Genitaletractus..............338
UndescendedTestis(cryptorchidie).....................................................................................338
Disordersofsexualdifferentiation.......................................................................................342
Inguinalpathology................................................................................................................342
Foreskinpathology..............................................................................................................343
Hypospadias........................................................................................................................347
Exstrophy–Epispadiascomplex(nietkennen)...................................................................348
(Congenital)Hydro(uretero)nephrosis.................................................................................349
DuplexSystems...................................................................................................................356
DifficultCase........................................................................................................................356
Varicocele(FYI,tostudyMa1,Urology;nietoverlopen)......................................................357
Slaapbijkinderen:Slaapstoornissen(ZS)............................................................................358
ArtikelSlaapstoornissenbijkinderen...................................................................................358
Slaap-waakpatroonkinderen(RC).........................................................................................364
Inleiding...............................................................................................................................364
Slaapstoornissen-casuistiek..............................................................................................365
Pathogenesisofacutecoughinpediatrics(ZS)...................................................................374
Doelen.................................................................................................................................374
5
, Introductie............................................................................................................................375
Upperrespiratorytractinfection(URTI)...............................................................................377
Laryngealandtrachealinfections-STRIDOR.....................................................................383
Lowerrespiratorytractinfections–ACUTEWHEEZE........................................................387
Lowerrespiratorytractinfections–ACUTEcough..............................................................389
Pathogenesisofacutecoughinpediatrics(RC)..................................................................392
Doelen.................................................................................................................................392
6