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Start small, think big: Growth monitoring, genetic analysis, treatment and quality

of life in children with growth disorders

Stalman, S.E.

Publication date

2016

Document Version

Final published version

Link to publication

Citation for published version (APA):

Stalman, S. E. (2016). Start small, think big: Growth monitoring, genetic analysis, treatment

and quality of life in children with growth disorders.

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(2)

Stellingen  behorende  bij  het  proefschrift    

Start  Small,  Think  Big

 

Diagnostic  workup,  genetic  analysis,  treatment  and  quality  of  life    

in  children  with  growth  disorders

 

 

1.   Guidelines  are  made  to  guide,  but  the  most  valuable  guide  for  an  individual  medical   assessment  is  the  child  itself.  –  this  thesis  

2.   Given  the  wide  variation  of  shapes  of  growth  curves  and  the  many  possible  underlying   conditions,  pursuing  an  ideal  combination  of  criteria  for  growth  monitoring  might  be   infeasible.  –  this  thesis  

3.   Future  research  should  focus  on  the  utility  of  performing  additional  investigations  in   children  referred  because  of  a  suspected  growth  disorder  and  without  clues  for  a  specific   diagnosis.  –  this  thesis  

4.   Array-­‐CGH  to  uncover  copy  number  variations    in  the  genetic  diagnostic  workup  of  SGA   newborns  should  be  performed  before  more  expensive  forms  of  genome  wide  analyses.  –   this  thesis  

5.   Despite  the  many  known  positive  effects  of  growth  hormone  treatment,  quality  of  life  in   short  children  could  be  improved  without  the  interference  of  growth  hormone  by   preventing  medicalisation  or  stigmatisation.  –  this  thesis    

6.   Assessment  of  quality  of  life    in  patients  with  growth  disorders  should  become  part  of   care  and  research  –  this  thesis  

7.   Doctors  are  good,  exomes  are  better,  doctors  evaluating  exomes  are  best.  –  Raoul   Hennekam    

8.   When  nothing  goes  right,  go  left.  –  Omdenken    

9.   Integrity  is  doing  the  right  thing  even  when  no  one  is  watching.  –  C.S.  Lewis  

10.  Logic  will  get  you  from  A  to  B.  Imagination  will  take  you  everywhere.  –  Albert  Einstein   11.  The  pursuit  of  knowledge  is  never-­‐ending.  The  day  you  stop  seeking  knowledge  is  the  

day  you  stop  growing  –  Bardon  Travis  Ciaccio  

Stellingen  behorende  bij  het  proefschrift    

Start  Small,  Think  Big

 

Diagnostic  workup,  genetic  analysis,  treatment  and  quality  of  life    

in  children  with  growth  disorders

 

 

1.   Guidelines  are  made  to  guide,  but  the  most  valuable  guide  for  an  individual  medical   assessment  is  the  child  itself.  –  this  thesis  

2.   Given  the  wide  variation  of  shapes  of  growth  curves  and  the  many  possible  underlying   conditions,  pursuing  an  ideal  combination  of  criteria  for  growth  monitoring  might  be   infeasible.  –  this  thesis  

3.   Future  research  should  focus  on  the  utility  of  performing  additional  investigations  in   children  referred  because  of  a  suspected  growth  disorder  and  without  clues  for  a  specific   diagnosis.  –  this  thesis  

4.   Array-­‐CGH  to  uncover  copy  number  variations    in  the  genetic  diagnostic  workup  of  SGA   newborns  should  be  performed  before  more  expensive  forms  of  genome  wide  analyses.  –   this  thesis  

5.   Despite  the  many  known  positive  effects  of  growth  hormone  treatment,  quality  of  life  in   short  children  could  be  improved  without  the  interference  of  growth  hormone  by   preventing  medicalisation  or  stigmatisation.  –  this  thesis    

6.   Assessment  of  quality  of  life    in  patients  with  growth  disorders  should  become  part  of   care  and  research  –  this  thesis  

7.   Doctors  are  good,  exomes  are  better,  doctors  evaluating  exomes  are  best.  –  Raoul   Hennekam    

8.   When  nothing  goes  right,  go  left.  –  Omdenken    

9.   Integrity  is  doing  the  right  thing  even  when  no  one  is  watching.  –  C.S.  Lewis  

10.  Logic  will  get  you  from  A  to  B.  Imagination  will  take  you  everywhere.  –  Albert  Einstein   11.  The  pursuit  of  knowledge  is  never-­‐ending.  The  day  you  stop  seeking  knowledge  is  the  

day  you  stop  growing  –  Bardon  Travis  Ciaccio    

Stellingen  behorende  bij  het  proefschrift    

Start  Small,  Think  Big

 

Diagnostic  workup,  genetic  analysis,  treatment  and  quality  of  life     in  children  with  growth  disorders  

 

1.   Guidelines  are  made  to  guide,  but  the  most  valuable  guide  for  an  individual  medical   assessment  is  the  child  itself.  –  this  thesis  

2.   Given  the  wide  variation  of  shapes  of  growth  curves  and  the  many  possible  underlying   conditions,  pursuing  an  ideal  combination  of  criteria  for  growth  monitoring  might  be   infeasible.  –  this  thesis  

3.   Future  research  should  focus  on  the  utility  of  performing  additional  investigations  in   children  referred  because  of  a  suspected  growth  disorder  and  without  clues  for  a  specific   diagnosis.  –  this  thesis  

4.   Array-­‐CGH  to  uncover  copy  number  variations    in  the  genetic  diagnostic  workup  of  SGA   newborns  should  be  performed  before  more  expensive  forms  of  genome  wide  analyses.  –   this  thesis  

5.   Despite  the  many  known  positive  effects  of  growth  hormone  treatment,  quality  of  life  in   short  children  could  be  improved  without  the  interference  of  growth  hormone  by   preventing  medicalisation  or  stigmatisation.  –  this  thesis    

6.   Assessment  of  quality  of  life    in  patients  with  growth  disorders  should  become  part  of   care  and  research  –  this  thesis  

7.   Doctors  are  good,  exomes  are  better,  doctors  evaluating  exomes  are  best.  –  Raoul   Hennekam    

8.   When  nothing  goes  right,  go  left.  –  Omdenken    

9.   Integrity  is  doing  the  right  thing  even  when  no  one  is  watching.  –  C.S.  Lewis  

10.  Logic  will  get  you  from  A  to  B.  Imagination  will  take  you  everywhere.  –  Albert  Einstein   11.  The  pursuit  of  knowledge  is  never-­‐ending.  The  day  you  stop  seeking  knowledge  is  the  

day  you  stop  growing  –  Bardon  Travis  Ciaccio  

Stellingen behorende bij het proefschrift

Start Small, Think Big

Diagnostic workup, genetic analysis, treatment and quality of life in children with growth disorders

1. Guidelines are made to guide, but the most valuable guide for an individual medical assessment is the child itself. – this thesis

2. Given the wide variation of shapes of growth curves and the many possible underlying conditions, pursuing an ideal combination of criteria for growth monitoring might be infeasible. – this thesis

3. Future research should focus on the utility of performing additional

investigations in children referred because of a suspected growth disorder and without clues for a specific diagnosis. – this thesis

4. Array-CGH to uncover copy number variations in the genetic diagnostic workup of SGA newborns should be performed before more expensive forms of genome wide analyses. – this thesis

5. Despite the many known positive effects of growth hormone treatment, quality of life in short children could be improved without the interference of growth hormone by preventing medicalisation or stigmatisation. – this thesis 6. Assessment of quality of life in patients with growth disorders should become

part of care and research. – this thesis

7. Doctors are good, exomes are better, doctors evaluating exomes are best.

– Raoul Hennekam

8. When nothing goes right, go left. – Omdenken

9. Integrity is doing the right thing even when no one is watching. – C.S. Lewis 10. Logic will get you from A to B. Imagination will take you everywhere.

– Albert Einstein

11. The pursuit of knowledge is never-ending. The day you stop seeking knowledge is the day you stop growing. – Bardon Travis Ciaccio

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