Vitamin D deficiency in serbian patients with rett syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 98, Issue 12, 2013, Pages

  Sarajlija, Adrijan ^a   Djuric, Milena ^b   Tepavcevic, Darija Kisic ^b   Grkovic, Sanja ^c   Djordjevic, Maja ^a  

^a Department of Metabolism and Clinical Genetics ^*  (United States)

^b UNIVERSITY OF BELGRADE   (Serbia)

^c Mother and Child Health Institute Belgrade rs   (Serbia)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; CALCIUM; CARBAMAZEPINE; LAMOTRIGINE; PARATHYROID HORMONE; TOPIRAMATE; VALPROIC ACID; VITAMIN D;

ADOLESCENT; ADULT; AGE; ARTICLE; BODY MASS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEMOGRAPHY; DISEASE SEVERITY; EPILEPSY; ETHNIC GROUP; FEMALE; FRACTURE; HUMAN; MOBILIZATION; MONOTHERAPY; MUTATION; NEUROLOGIC DISEASE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; SCOLIOSIS; SCORING SYSTEM; SERBIAN; VITAMIN BLOOD LEVEL; VITAMIN D DEFICIENCY;

ADOLESCENT; ADULT; AGE FACTORS; ANTICONVULSANTS; CALCIFEDIOL; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CROSS-SECTIONAL STUDIES; DRUG THERAPY, COMBINATION; FEMALE; HOSPITALS, PEDIATRIC; HUMANS; OSTEOPOROTIC FRACTURES; PARATHYROID HORMONE; PREVALENCE; RETT SYNDROME; RISK FACTORS; SERBIA; SEVERITY OF ILLNESS INDEX; VITAMIN D DEFICIENCY; YOUNG ADULT;

EID: 84889764171     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-2627     Document Type: Article

References (45)

1. Bienvenu T, Philippe C, De Roux N, et al. The incidence of Rett syndrome in France. Pediatr Neurol. 2006;34:372-375.
2. Leonard H, Bower C, English D. The prevalence and incidence of Rett syndrome in Australia. Eur Child Adolesc Psychiatry. 1997;6: 8-10.
3. Hagberg B. Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr. 1995;84:971-976.
4. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 1999;23:185- 188
5. Weaving LS, Ellaway CJ, Gécz J, Christodoulou J. Rett syndrome: clinical review and genetic update. J Med Genet. 2005;42:1-7.
6. Motil KJ, Caeg E, Barrish JO, et al. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr. 2012;55:292-298.
7. Huppke P, Roth C, Christen HJ, Brockmann K, Hanefeld F. Endocrinological study on growth retardation in Rett syndrome. Acta Paediatr. 2001;90:1257-1261.
8. PercyAK,Lee HS, Neul JL, et al. Profiling scoliosis in Rett syndrome. Pediatr Res. 2010;67:435-439.
9. Haas RH, Dixon SD, Sartoris DJ, Hennessy MJ. Osteopenia in Rett syndrome. J Pediatr. 1997;131:771-774.
10. Leonard H, Thomson MR, Glasson EJ, et al. A population-based approach to the investigation of osteopenia in Rett syndrome. Dev Med Child Neurol. 1999;41:323-328.
11. Shapiro JR, Bibat G, Hiremath G, et al. Bone mass in Rett syndrome: association with clinical parameters andMECP2mutations. Pediatr Res. 2010;68:446-451.
12. Motil KJ, Ellis KJ, Barrish JO, Caeg E, Glaze DG. Bone mineral content and bone mineral density are lower in older than in younger females with Rett syndrome. Pediatr Res. 2008;64:435-439.
13. Loder RT, Lee CL, Richards BS. Orthopedic aspects of Rett syndrome: a multicenter review. J Pediatr Orthop. 1989;9:557-562.
14. Downs J, Bebbington A, Woodhead H, et al. Early determinants of fractures in Rett syndrome. Pediatrics. 2008;121:540-546.
15. Roende G, Ravn K, Fuglsang K, et al. Patients with Rett syndrome sustain low-energy fractures. Pediatr Res. 2011;69:359-364.
16. Budden SS, Gunness ME. Possible mechanisms of osteopenia in Rett syndrome: bone histomorphometric studies. J Child Neurol. 2003; 18:698-702.
17. Motil KJ, Barrish JO, Lane J, et al. VitaminDdeficiency is prevalent in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr. 2011;53:569-574.
18. Gonnelli S, Caffarelli C, Hayek J, Montagnani A, et al. Bone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal study. Bone. 2008;42:737-742.
19. van Schoor NM, Visser M, Pluijm SM, Kuchuk N, Smit JH, Lips P. Vitamin D deficiency as a risk factor for osteoporotic fractures. Bone. 2008;42:260-266.
20. Ryan LM, Brandoli C, Freishtat RJ, Wright JL, Tosi L, Chamberlain JM. Prevalence of vitamin D insufficiency in African American children with forearm fractures: a preliminary study. J Pediatr Orthop. 2010;30:106-109.
21. Rejnmark L. Effects of vitamin D on muscle function and performance: a review of evidence from randomized controlled trials. Ther Adv Chronic Dis. 2011;2:25-37.
22. HewisonM.Vitamin D and the immune system:newperspectives on an old theme. Endocrinol Metab Clin North Am. 2010;39:365-379.
23. Djarmati A, Dobricić V, Kecmanović M, et al. MECP2 mutations in Serbian Rett syndrome patients. Acta Neurol Scand. 2007;116:413- 419.
24. Neul JL, Fang P, Barrish J, et al. Specific mutations in methyl-CpGbinding protein 2 confer different severity in Rett syndrome. Neurology. 2008;70:1313-1321.
25. Holick MF, Binkley NC, Bischoff-Ferrari HA, et al. Evaluation, treatment, and prevention of vitamin D deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2011; 96:1911-1930.
26. Cepollaro C, Gonnelli S, Bruni D, et al. Dual X-ray absorptiometry and bone ultrasonography in patients with Rett syndrome. Calcif Tissue Int. 2001;69:259-262.
27. Isaacs JS, Murdock M, Lane J, Percy AK. Eating difficulties in girls with Rett syndrome compared with other developmental disabilities. J Am Diet Assoc. 2003;103:224-230.
28. BowdenSA, Robinson RF, Carr R,MahanJD. Prevalence of vitamin D deficiency and insufficiency in children with osteopenia or osteoporosis referred to a pediatric metabolic bone clinic. Pediatrics. 2008;121:e1585-e1590.
29. Lips P. VitaminDdeficiency and secondary hyperparathyroidism in the elderly: consequences for bone loss and fractures and therapeutic implications. Endocr Rev. 2001;22:477-501.
30. Ghergherechi R, Hazhir N, Tabrizi A. Comparison of vitamin D deficiency and secondary hyperparathyroidism in obese and nonobese children and adolescents. Pak J Biol Sci. 2012;15:147-151.
31. Mintzer S, Boppana P, Toguri J, DeSantis A. Vitamin D levels and bone turnover in epilepsy patients taking carbamazepine or oxcarbazepine. Epilepsia. 2006;47:510-515.
32. Misra A, Aggarwal A, Singh O, Sharma S. Effect of carbamazepine therapy on vitamin D and parathormone in epileptic children. Pediatr Neurol. 2010;43:320-324.
33. Nettekoven S, Ströhle A, Trunz B, Wolters M, Hoffmann S, Horn R. Effects of antiepileptic drug therapy on vitamin D status and biochemical markers of bone turnover in children with epilepsy. Eur J Pediatr. 2008;167:1369-1377.
34. Pack A. Bone health in people with epilepsy: is it impaired and what are the risk factors? Seizure. 2008;17:181-186.
35. Stamp TC, Round JM, Rowe DJ, Haddad JG. Plasma levels and therapeutic effect of 25-hydroxycholecalciferol in epileptic patients taking anticonvulsant drugs. Br Med J. 1972;4:9-12.
36. Menon B, Harinarayan CV. The effect of anti epileptic drug therapy on serum 25-hydroxyvitaminDand parameters of calcium and bone metabolism - a longitudinal study. Seizure. 2010;19:153-158.
37. Fong CY, Riney CJ. Vitamin D deficiency among children with epilepsy in South Queensland [published online ahead of print January 22, 2013]. J Child Neurol. doi: 0.1177/0883073812472256.
38. Shellhaas RA, Barks AK, Joshi SM. Prevalence and risk factors for vitamin D insufficiency among children with epilepsy. Pediatr Neurol. 2010;42:422-426.
39. Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol. 2007;11:310-317.
40. Nissenkorn A, Gak E, Vecsler M, Reznik H, Menascu S, Ben Zeev B. Epilepsy in Rett syndrome - the experience of a National Rett Center. Epilepsia. 2010;51:1252-1258.
41. Sheth RD, Hermann BP. Bone mineral density with lamotrigine monotherapy for epilepsy. Pediatr Neurol. 2007;37:250-254.
42. Roende G, Ravn K, Fuglsang K, et al. DXA measurements in Rett syndrome reveal small bones with low bone mass. J Bone Miner Res. 2011;26:2280-2286.
43. Jefferson AL, Woodhead HJ, Fyfe S, et al. Bone mineral content and density in Rett syndrome and their contributing factors. Pediatr Res. 2011;69:293-298.
44. Caffarelli C, Gonnelli S, Tanzilli L, et al. The relationship between serum ghrelin and body composition with bone mineral density and QUS parameters in subjects with Rett syndrome. Bone. 2012;50: 830-835.
45. Holló A, Clemens Z, Kamondi A, Lakatos P, Szudblac;csA. Correction of vitamin D deficiency improves seizure control in epilepsy: a pilot study. Epilepsy Behav. 2012;24:131-133.