Huisartsenbrochure Prader-Willi syndroom

15 / 27

Prader-Willi syndroom
13
1. Angulo M, Butler MG, Cataletto, ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J. Endocrinol
Invest. 2015. 38: 1249-1263.
2. Bakker NE, Kuppens RJ, Siemensma EPC, Tummers-de Lind vanWijngaarden RFA, Festen DAM, Bindels-de Heus GCB et al. Eight
years of growth hormone treatment in children with Prader-Willi syndrome: maintaining the positive effects. J Clin Endocrinol
Metab. 2013 (Okt), 98 (10): 4013-4022.
3. Bakker NE, Kuppens RJ, Siemensma EPC, Tummers-de Lind vanWijngaarden RFA, Festen DAM, Bindels-de Heus GCB et al. Bone
mineral density in children and adolescents with Prader-Willi syndrome: a longitudinal study during puberty and 9 years of
growth hormone treatment. J Clin Endocrinol Metab. 2015 (Apr). 100(4):1609-18.
4. Bakker NE, Wolffenbuttel KP, Looijenga LHJ, Hokken-Koelega ACS. Testes in infants with Prader-Willi syndrome: human chorionic
gonadotropin treatment, surgery and histology. J Urol. 2015 (Jan). 193: 291-298.
5. Buiting C, Njoo K. Richtlijn informatie uitwisseling tussen Huisarts en Specialist bij verwijzing (HASP). 2008. Nederlands
Huisartsen Genootschap.
6. Butler JV, Whittington JE, Holland AJ, Boer H, Clarke D, Webb T. Prevalence of, and risk factors for, physical ill-health in people with
Prader Willi syndrome; a population based study. Dev Med Child Neurol. 2002. 44: 248-255.
7. De Lind vanWijngaarden RFA, De Klerk LWL, Festen DAM, Hokken-Koelega ACS. Scoliosis in Prader-Willi syndrome: prevalence,
effects of age, gender, body mass index, lean body mass and genotype. Arch Dis Child. 2008; 93: 1012-1016.
8. De Lind vanWijngaarden RFA, Otten BJ, Festen DAM, Joosten KFM, De Jong FH, Sweep FCGJ et al. High prevalence of central
adrenal insufficiency in patients with Prader-Willi Syndrome. J Clin Endocrinol Metab, (May) 2008, 93(5):1649–1654.
9. De Lind vanWijngaarden RFA, Siemensma EPC, Festen DAM, Otten BJ, Van Mil EGAH, Rotteveel J et al. Efficacy and safety of long-
term continuous growth hormone treatment in children with Prader-Willi syndrome. J Clin Endocrinol Metab. (November) 2009,
94(11):4205-4215.
10. Driscoll DJ, Miller JL, Schwarz S, Cassidy SB. Prader-Willi Syndrome. Gene Reviews. Pagon RA, AdamMP, Ardinger HH, et al. Seattle
(WA): University of Washington, Seattle. 2014.
11. Eijssens EC. Rapport ’Spierziekten als zeldzame ziekten in de huisartsenpraktijk’. 2006.
12. Elena G, Bruna C, Benedetta M, Stefania DC, Giuseppe C. Prader-Willi Syndrome; Clinical Aspects. Journal of Obesity. 2012. Doi:
10.1155/2012/473941.
13. Festen DAM, De Weerd, AW, Van den Bossche RAS, Joosten K, Hoeve H, Hokken-Koelega ACS. Sleep-Related Breathing Disorders
in Prepubertal Children with Prader-Willi Syndrome and Effects of Growth Hormone Treatment. J Clin Endocrinol Metab. 2006.
91(12):4911–4915.
14. Festen DAM, Wevers M, Lindgrent AC, Böhmt B, Otten BJ, Wit JM et al. Mental and motor development before and during growth
hormone treatment in infants and toddlers with Prader-Willi syndrome. Clin. Endocrinol. 2008. 68, 919-925.
15. Hendriks SA. Generieke zorgthema Huisartsgeneeskundige zorg. 2014.
16. Hokken-Koelega ACS, Otten BJ, Van Alfen-van der Velden AAEM, Festen DAM, Tummers-de Lind vanWijngaarden RFA, Siemensma.
Landelijke Richtlijn Diagnostiek en behandeling van kinderen met het Prader-Willi Syndroom. Nederlandse Vereniging voor
Kindergeneeskunde. 2013.
17. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega ACS, Tauber M. Recommendations for the Diagnosis and Management of
Prader-Willi Syndrome. J Clin Endocrinol Metab. 2008 (nov). 93(11):4183–4197.
18. Lo ST, Siemensma E, Collin P, Hokken-Koelega A. Impaired theory of mind and symptoms of Autism SpectrumDisorder in children
with Prader-Willi syndrome. Res Dev Disabil. 2013 Sep;34(9):2764-73.
19. Lo ST, Siemensma E, Collin P, Hokken-Koelega A. Psychiatric disorders in children with Prader-Willi syndrome-result of a 2-year
longitudinal study. Am J Med Genet Part A. 2015. 167A: 983-991.
20. Miller JL, Lynn CH, Driscoll DC, Goldstone AP, Gold JA, Kimonis V, et al. Nutritional phases in Prader-Willi Syndrome. Am J Med Genet
A. 2011 May; 155A (5): 1040-1049.
21. Orphanet Report Series. Prevalence and incidence of rare diseases: Bibliographic data. (Maart) 2016.
22. Reus L. Van Vlimmeren LA, Staal JB, Otten BJ, Nijhuis-van der Sanden MW. The effect of growth hormone treatment or physical
training on motor performance in Prader-Willi syndrome: a systematic review. Database of Abstracts of Reviews of Effects (DARE):
Quality-assessed Reviews. York (UK): Centre for Reviews and Dissemenation (UK) 2012.
Literatuurlijst