Student: Isa Heikamp
Studentnummer: 1721002
DUCHENNE Student: Patricia de Vries
Studentnummer: 1716573
Groep: F
Cursuscode: GKO-KZ.2-18-
SPIERDYSTROFIE F
Datum: 9 juni 2020
MINOR KIND IN ZORG 2
Vakblad
,Inhoudsopgave
Inhoudsopgave.....................................................................................................................................................1
1. Inleiding............................................................................................................................................................2
1.1 Vraagstelling ....................................................................................................................................3
1.2 Doelstelling.......................................................................................................................................3
2. De ziekte van Duchenne...................................................................................................................................3
3.1 Methodische beschrijving ziektebeeld ............................................................................................3
Omschrijving van het ziektebeeld..........................................................................................................3
Oorzaak..................................................................................................................................................3
Diagnostiek.............................................................................................................................................4
Therapie + gevolgen...............................................................................................................................5
Complicaties...........................................................................................................................................6
Prognose.................................................................................................................................................6
Preventie................................................................................................................................................7
3. Tim en gezin.....................................................................................................................................................7
3.1 Casus Tim .........................................................................................................................................7
3.2 Impact van een chronische aandoening op het kind ......................................................................9
3.3 Ontwikkelingsniveau van het kind...................................................................................................9
3.4 Impact van de chronische aandoening op het gezin..........................................................................10
4. (Verpleeg)beleid.............................................................................................................................................11
Obstipatie.............................................................................................................................................11
Risico op decubitus..............................................................................................................................12
Machteloosheid...................................................................................................................................12
Risico op dreigend verminderd activiteitsvermogen...........................................................................13
5. Artikel.............................................................................................................................................................14
Inleiding................................................................................................................................................14
Methode...............................................................................................................................................14
Resultaten............................................................................................................................................15
Discussie...............................................................................................................................................15
Conclusie..............................................................................................................................................15
Bronvermelding:.................................................................................................................................................17
Bijlage 1: Uitwerking medicijnen .......................................................................................................................20
Bijlage 2: Samenwerkingscontract.....................................................................................................................21
Bijlage 3: Peerassessment over Patricia de Vries...............................................................................................24
............................................................................................................................................................................26
Bijlage 4: Peerassessment over Isa Heikamp ...................................................................................................26
1. Inleiding.........................................................................................................................................................2
1.1 Vraagstelling....................................................................................................................................3
1.2 Doelstelling......................................................................................................................................3
2. De ziekte van Duchenne...........................................................................................................................4
3.1 Methodische beschrijving ziektebeeld...........................................................................................4
Omschrijving van het ziektebeeld..........................................................................................................4
Oorzaak..................................................................................................................................................4
Diagnostiek............................................................................................................................................4
Therapie + gevolgen...............................................................................................................................5
Complicaties...........................................................................................................................................6
Prognose................................................................................................................................................7
1
, Preventie................................................................................................................................................7
3. Tim en gezin.................................................................................................................................................8
3.1 Casus Tim.........................................................................................................................................8
3.2 Impact van een chronische aandoening op het kind.....................................................................9
3.3 Ontwikkelingsniveau van het kind...............................................................................................10
3.4 Impact van de chronische aandoening op het gezin..........................................................11
4. (Verpleeg)beleid........................................................................................................................................12
Obstipatie............................................................................................................................................12
Risico op decubitus.............................................................................................................................12
Machteloosheid...................................................................................................................................13
Risico op dreigend verminderd activiteitsvermogen.........................................................................14
5. Artikel..........................................................................................................................................................15
Inleiding...............................................................................................................................................15
Methode..............................................................................................................................................15
Resultaten...........................................................................................................................................15
Discussie..............................................................................................................................................16
Conclusie..............................................................................................................................................16
6. Conclusie....................................................................................................................................................17
Bronvermelding:...........................................................................................................................................18
Bijlage 1: Uitwerking medicijnen......................................................................................................................21
Bijlage 2: Samenwerkingscontract...................................................................................................................22
Bijlage 3: Peerassessment over Patricia de Vries............................................................................................25
Bijlage 4: Peerassessment over Isa Heikamp...................................................................................................27
1. Inleiding
De namen welke zijn gebruikt in dit vakblad zijn fictief.
De ziekte van Duchenne wordt ook wel Duchenne spierdystrofie genoemd. Duchenne is een
erfelijke spierziekte, waarbij er in toenemende mate spierzwakte optreedt in het lichaam. De
spierverzwakking zal geleidelijk aan ontstaan in de schouders en bekken en maakt zich
vervolgens een weg naar de andere spieren in het lichaam (Schieving, 2008). De ziekte van
Duchenne erft X-gebonden recessief over en ontstaat wanneer er een fout optreedt in het
dystrofine gen, welke ligt op het x-chromosoom. Door deze fout is het niet mogelijk om het
eiwit dystrofine aan te maken (UMC Utrecht Wilhelmina Kinderziekenhuis, 2020). Dystrofine
is een eiwit dat zorgt voor stevigheid en herstel van de spieren. In het lichaam van een kind
met de ziekte van Duchenne is het eiwit dystrofine niet aanwezig, dit zorgt ervoor dat spieren
hun kracht verliezen en uiteindelijk ook de ademhalingsspieren en het hart worden aangetast
(UMCG, z.d.).
De ziekte van Duchenne komt vrijwel alleen voor bij jongens. Volgens van Dijk et al (2019)
worden er jaarlijks zo’n 17 jongens geboren met de ziekte van Duchenne.
Één van deze jongens is de 16-jarige Tim, hij is op zijn vierde gediagnosticeerd met de
ziekte van Duchenne. Tim ligt sinds zijn 9e levensjaar ‘s nachts aan de non-invasieve
2
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