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Autism Research and Treatment
Volume 2012, Article ID 679801, 14 pages
http://dx.doi.org/10.1155/2012/679801
Clinical Study

IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients

1Tuscany Rett Center, Versilia Hospital, 55043 Lido di Camaiore, Italy
2Neurology Division, Versilia Hospital, 55043 Lido di Camaiore, Italy
3Department of Neurology, University of Pisa, 56126 Pisa, Italy
4Trinity College Institute for Neuroscience, College Green, Dublin 2, Ireland
5School of Medicine and CRANN, Trinity College Dublin, College Green, Dublin 2, Ireland
6Department of Psychiatry, Neuropsychiatric Genetics Research Group, Trinity Center for Health Sciences, St James Hospital, Dublin 8, Ireland
7Department of Brain and Cognitive Science, Massachusetts Institute of Technology, Cambridge, MA 02139, USA

Received 2 February 2012; Accepted 3 April 2012

Academic Editor: Louise Gallagher

Copyright © 2012 Giorgio Pini et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. B. Hagberg and I. Witt-Engerstrom, “Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence,” American Journal of Medical Genetics, vol. 24, no. 1, pp. 47–59, 1986. View at Google Scholar · View at Scopus
  2. A. M. Kerr, D. D. Armstrong, R. J. Prescott, D. Doyle, and D. L. Kearney, “Rett syndrome: analysis of deaths in the British survey,” European Child and Adolescent Psychiatry, vol. 6, no. 1, pp. 71–74, 1997. View at Google Scholar · View at Scopus
  3. P. O. Julu, A. M. Kerr, F. Apartopoulos et al., “Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder,” Archives of Disease in Childhood, vol. 85, no. 1, pp. 29–37, 2001. View at Google Scholar · View at Scopus
  4. B. Cardoza, A. Clarke, J. Wilcox et al., “Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice,” Seizure, vol. 20, no. 8, pp. 646–649, 2011. View at Publisher · View at Google Scholar · View at Scopus
  5. N. Krajnc, N. Župančič, and J. Oražem, “Epilepsy treatment in rett syndrome,” Journal of Child Neurology, vol. 26, no. 11, pp. 1429–1433, 2011. View at Publisher · View at Google Scholar
  6. R. H. Haas, S. D. Dixon, D. J. Sartoris, and M. J. Hannessy, “Osteopenia in Rett syndrome,” Journal of Pediatrics, vol. 131, no. 5, pp. 771–774, 1997. View at Google Scholar · View at Scopus
  7. F. Ariani, G. Hayek, D. Rondinella et al., “FOXG1 is responsible for the congenital variant of Rett syndrome,” American Journal of Human Genetics, vol. 83, no. 1, pp. 89–93, 2008. View at Publisher · View at Google Scholar · View at Scopus
  8. A. Renieri, F. Mari, M. A. Mencarelli et al., “Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant),” Brain and Development, vol. 31, no. 3, pp. 208–216, 2009. View at Publisher · View at Google Scholar · View at Scopus
  9. R. Artuso, M. A. Mencarelli, R. Polli et al., “Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria,” Brain and Development, vol. 32, no. 1, pp. 17–24, 2010. View at Publisher · View at Google Scholar · View at Scopus
  10. R. E. Amir, I. B. Van Den Veyver, M. Wan, C. Q. Tran, U. Francke, and H. Y. Zoghbi, “Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2,” Nature Genetics, vol. 23, no. 2, pp. 185–188, 1999. View at Publisher · View at Google Scholar · View at Scopus
  11. R. Z. Chen, S. Akbarian, M. Tudor, and R. Jaenisch, “Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice,” Nature Genetics, vol. 27, no. 3, pp. 327–331, 2001. View at Publisher · View at Google Scholar · View at Scopus
  12. J. Guy, B. Hendrich, M. Holmes, J. E. Martin, and A. Bird, “A mouse Mecp2-null mutation causes neurological symptoms that mimic rett syndrome,” Nature Genetics, vol. 27, no. 3, pp. 322–326, 2001. View at Publisher · View at Google Scholar · View at Scopus
  13. M. V. Johnston, O. H. Jeon, J. Pevsner, M. E. Blue, and S. Naidu, “Neurobiology of Rett syndrome: a genetic disorder of synapse development,” Brain and Development, vol. 23, no. 1, pp. S206–S213, 2001. View at Publisher · View at Google Scholar · View at Scopus
  14. D. Tropea, E. Giacometti, N. R. Wilson et al., “Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice,” Proceedings of the National Academy of Sciences of the United States of America, vol. 106, no. 6, pp. 2029–2034, 2009. View at Publisher · View at Google Scholar · View at Scopus
  15. J. Guy, J. Gan, J. Selfridge, S. Cobb, and A. Bird, “Reversal of neurological defects in a mouse model of Rett syndrome,” Science, vol. 315, no. 5815, pp. 1143–1147, 2007. View at Publisher · View at Google Scholar · View at Scopus
  16. E. Giacometti, S. Luikenhuis, C. Beard, and R. Jaenisch, “Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2,” Proceedings of the National Academy of Sciences of the United States of America, vol. 104, no. 6, pp. 1931–1936, 2007. View at Publisher · View at Google Scholar · View at Scopus
  17. Q. Chang, G. Khare, V. Dani, S. Nelson, and R. Jaenisch, “The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression,” Neuron, vol. 49, no. 3, pp. 341–348, 2006. View at Publisher · View at Google Scholar · View at Scopus
  18. C. A. Bondy and C. M. Cheng, “Insulin-like growth factor-1 promotes neuronal glucose utilization during brain development and repair processes,” International Review of Neurobiology, vol. 51, pp. 189–217, 2002. View at Google Scholar · View at Scopus
  19. D. Tropea, G. Kreiman, A. Lyckman et al., “Gene expression changes and molecular pathways mediating activity-dependent plasticity in visual cortex,” Nature Neuroscience, vol. 9, no. 5, pp. 660–668, 2006. View at Publisher · View at Google Scholar · View at Scopus
  20. F. Ciucci, E. Putignano, L. Baroncelli, S. Landi, N. Berardi, and L. Maffei, “Insulin-like growth factor 1 (IGF-1) mediates the effects of enriched environment (EE) on visual cortical development,” PLoS One, vol. 2, no. 5, article e475, 2007. View at Publisher · View at Google Scholar · View at Scopus
  21. M. Itoh, S. Ide, S. Takashima et al., “Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains,” Journal of Neuropathology and Experimental Neurology, vol. 66, no. 2, pp. 117–123, 2007. View at Publisher · View at Google Scholar · View at Scopus
  22. R. R. Reinhardt and C. A. Bondy, “Insulin-like growth factors cross the blood-brain barrier,” Endocrinology, vol. 135, no. 5, pp. 1753–1761, 1994. View at Publisher · View at Google Scholar · View at Scopus
  23. M. Boguszewski, C. Jansson, S. Rosberg, and K. Albertsson-Wikland, “Changes in serum insulin-like growth factor I (IGF-I) and IGF-binding protein-3 levels during growth hormone treatment in prepubertal short children born small for gestational age,” Journal of Clinical Endocrinology and Metabolism, vol. 81, no. 11, pp. 3902–3908, 1996. View at Publisher · View at Google Scholar · View at Scopus
  24. P. F. Backeljauw, L. E. Underwood, M. Miras et al., “Therapy for 6.5–7.5 years with recombinant insulin-like growth factor I in children with growth hormone insensitivity syndrome: a clinical research center study,” Journal of Clinical Endocrinology and Metabolism, vol. 86, no. 4, pp. 1504–1510, 2001. View at Publisher · View at Google Scholar · View at Scopus
  25. J. C. Bucuvalas, S. D. Chernausek, M. P. Alfaro, S. K. Krug, W. Ritschel, and R. W. Wilmott, “Effect of insulinlike growth factor-1 treatment in children with cystic fibrosis,” Journal of Pediatric Gastroenterology and Nutrition, vol. 33, no. 5, pp. 576–581, 2001. View at Publisher · View at Google Scholar · View at Scopus
  26. S. D. Chernausek, P. F. Backeljauw, J. Frane, J. Kuntze, and L. E. Underwood, “Long-term treatment with recombinant insulin-like growth factor (IGF)-I in children with severe IGF-I deficiency due to growth hormone insensitivity,” Journal of Clinical Endocrinology and Metabolism, vol. 92, no. 3, pp. 902–910, 2007. View at Publisher · View at Google Scholar · View at Scopus
  27. H. J. Schneider, C. Sievers, B. Saller, H. U. Wittchen, and G. K. Stalla, “High prevalence of biochemical acromegaly in primary care patients with elevated IGF-1 levels,” Clinical Endocrinology, vol. 69, no. 3, pp. 432–435, 2008. View at Publisher · View at Google Scholar · View at Scopus
  28. P. O. Julu, I. W. Engerström, S. Hansen et al., “Cardiorespiratory challenges in Rett's syndrome,” The Lancet, vol. 371, no. 9629, pp. 1981–1983, 2008. View at Publisher · View at Google Scholar · View at Scopus
  29. P. O. O. Julu and I. Witt Engerström, “Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome,” Brain and Development, vol. 27, no. 1, pp. S43–S53, 2005. View at Publisher · View at Google Scholar · View at Scopus
  30. A. M. Kerr, Y. Nomura, D. Armstrong et al., “Guidelines for reporting clinical features in cases with MECP2 mutations,” Brain and Development, vol. 23, no. 4, pp. 208–211, 2001. View at Publisher · View at Google Scholar · View at Scopus
  31. W. Guy, “ECDEU Assessment Manual for Psychopharmacology,” in Revised (DHEW Publ No ADM 76-338), pp. 218–222, U.S. Department of Health, Education, and Welfare, Public Health Service, Alcohol, Drug Abuse, and Mental Health Administration, NIMH Psychopharmacology Research Branch, Division of Extramural Research Programs, Rockville, Md, USA, 1976. View at Google Scholar
  32. A. Ishizaki, “Electroencephalographic study of the Rett syndrome with special reference to the monorhythmic theta activities in adult patients,” Brain and Development, vol. 14, pp. S31–S36, 1992. View at Google Scholar · View at Scopus
  33. C. J. Ellaway, J. Peat, K. Williams, H. Leonard, and J. Christodoulou, “Medium-term open label trial of L-carnitine in Rett syndrome,” Brain and Development, vol. 23, no. 1, pp. S85–S89, 2001. View at Publisher · View at Google Scholar · View at Scopus
  34. D. K. Andaku, M. T. Mercadante, and J. S. Schwartzman, “Buspirone in Rett syndrome respiratory dysfunction,” Brain and Development, vol. 27, no. 6, pp. 437–438, 2005. View at Publisher · View at Google Scholar · View at Scopus
  35. E. E. O. Hagebeuk, J. H. T. M. Koelman, M. Duran, N. G. Abeling, A. Vyth, and B. T. Poll-The, “Clinical and electroencephalographic effects of folinic acid treatment in rett syndrome patients,” Journal of Child Neurology, vol. 26, no. 6, pp. 718–723, 2011. View at Publisher · View at Google Scholar · View at Scopus
  36. P. F. Collett-Solberg and M. Misra, “The role of recombinant human insulin-like growth factor-I in treating children with short stature,” Journal of Clinical Endocrinology and Metabolism, vol. 93, no. 1, pp. 10–18, 2008. View at Publisher · View at Google Scholar · View at Scopus
  37. M. Zhang, S. Xuan, M. L. Bouxsein et al., “Osteoblast-specific knockout of the insulin-like growth factor (IGF) receptor gene reveals an essential role of IGF signaling in bone matrix mineralization,” Journal of Biological Chemistry, vol. 277, no. 46, pp. 44005–44012, 2002. View at Publisher · View at Google Scholar · View at Scopus