Maart 2012
3
Inhoudsopgave
1
Voorwoord ...........................................................................................................................................4
1.1
Expertise centrum .............................................................................................................4
1.2
Patiëntenvereniging ..........................................................................................................4
1.3
Leeswijzer..........................................................................................................................5
2
Congenitale Defecten in de Glycosylering - PMM2 .............................................................................6
2.1
Presentatie ........................................................................................................................6
2.2
Diagnostiek........................................................................................................................7
2.3
Behandeling.......................................................................................................................8
3
Begeleiding – Kinderen.........................................................................................................................9
3.1
Patiënt en/of ouders .......................................................................................................10
3.2
Casemanager ...................................................................................................................10
3.3
Kinderarts Metabole Ziekten ...........................................................................................10
3.4
Vaste medebehandelaren: diëtist....................................................................................18
3.5
Vaste medebehandelaren: (kinder)fysiotherapeut ..........................................................18
3.6
Vaste medebehandelaren: logopedist .............................................................................19
3.7
Vaste medebehandelaren: (kinder)psycholoog ...............................................................19
3.8
Vaste medebehandelaren: (kinder)neuroloog .................................................................19
3.9
Vaste medebehandelaren: (kinder)cardioloog ................................................................19
3.10
Vaste medebehandelaren: oogarts..................................................................................19
3.11
Vaste medebehandelaren: revalidatie team....................................................................20
3.12
Overige betrokken zorgverleners ....................................................................................20
4
Begeleiding – Volwassenen............................................................................................................... 22
4.1
Patiënt .............................................................................................................................23
4.2
Casemanager ...................................................................................................................23
4.3
Vaste medebehandelaren: neuroloog .............................................................................29
4.4
Vaste medebehandelaren: fysiotherapeut ......................................................................29
4.5
Vaste medebehandelaren: psycholoog............................................................................29
4.6
Vaste medebehandelaren: logopedist .............................................................................29
4.7
Vaste medebehandelaren: diëtist....................................................................................30
4.8
Vaste medebehandelaren: cardioloog .............................................................................30
4.9
Vaste medebehandelaren: oogarts..................................................................................30
4.10
Vaste medebehandelaren: revalidatie team....................................................................30
4.11
Overige betrokken zorgverleners ....................................................................................31
5
Kwaliteitsindicatoren ........................................................................................................................ 33
6
PMM2-CDG (CDG I a) – Latest Evidence ........................................................................................... 34
6.1
Reference List ..................................................................................................................36
7
Consensus zorgpad PMM 2 - CDG (CDG 1a)...................................................................................... 38
8
Disclaimer.......................................................................................................................................... 38