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Journal articles on the topic 'Fragile X syndrome'

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Author: Grafiati

Published: 4 June 2021

Last updated: 31 July 2024

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1

Tassanakijpanich, Nattaporn, Ana María Cabal-Herrera, Maria Jimena Salcedo-Arellano, and Randi Jenssen Hagerman. "Fragile X Syndrome and Targeted Treatments." Journal of Biomedicine and Translational Research 6, no. 1 (March 31, 2020): 23–33. http://dx.doi.org/10.14710/jbtr.v6i1.7321.

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Many targeted treatment studies have been carried out in individuals with Fragile X Syndrome (FXS) guided by animal studies from the Fragile X Mental Retardation 1 (FMR1) knock out (KO) mice and the fragile X Drosophila studies. Here we review the many medications that have been studied in patients with FXS and some of these medications are available for clinical use by wise clinicians. Other medications are not currently available by prescription because they are not approved by the FDA. No medication has received specific approval for treatment of FXS, although some have shown benefit from clinical studies. There is much to be done in the treatment of those with FXS and this report describes those pharmacological treatments that target the neurobiological mechanisms that are dysregulated by the lack of the Fragile X Protein (FMRP) in those with FXS.

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2

Phalen, J. A. "Fragile X Syndrome." Pediatrics in Review 26, no. 5 (May 1, 2005): 181–82. http://dx.doi.org/10.1542/pir.26-5-181.

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3

Hagerman, Paul J., and Randi Hagerman. "Fragile X syndrome." Current Biology 31, no. 6 (March 2021): R273—R275. http://dx.doi.org/10.1016/j.cub.2021.01.043.

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4

Millichap, J. Gordon. "Fragile-X Syndrome." Pediatric Neurology Briefs 2, no. 3 (March 1, 1988): 18. http://dx.doi.org/10.15844/pedneurbriefs-2-3-3.

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5

McLennan, Yingratana, Jonathan Polussa, Flora Tassone, and Randi Hagerman. "Fragile X Syndrome." Current Genomics 12, no. 3 (May 1, 2011): 216–24. http://dx.doi.org/10.2174/138920211795677886.

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6

Phalen, James A. "Fragile X Syndrome." Pediatrics In Review 26, no. 5 (May 1, 2005): 181–82. http://dx.doi.org/10.1542/pir.26.5.181.

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7

Dubey, Sneha R., and Hanokh J. Chakranarayan. "Fragile X Syndrome." International Journal of Advances in Nursing Management 6, no. 4 (2018): 339. http://dx.doi.org/10.5958/2454-2652.2018.00078.1.

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8

McNally, Steve. "Fragile X syndrome." Learning Disability Practice 13, no. 10 (December 8, 2010): 11. http://dx.doi.org/10.7748/ldp.13.10.11.s19.

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9

Atkinson, Stacey. "Fragile X syndrome." Learning Disability Practice 18, no. 3 (March 30, 2015): 15. http://dx.doi.org/10.7748/ldp.18.3.15.s18.

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10

Sinéad, Foran. "Fragile X syndrome." Learning Disability Practice 21, no. 4 (July 24, 2018): 17. http://dx.doi.org/10.7748/ldp.21.4.17.s17.

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11

Millichap, J. Gordon. "Fragile X Syndrome." Pediatric Neurology Briefs 1, no. 6 (November 1, 1987): 41. http://dx.doi.org/10.15844/pedneurbriefs-1-6-3.

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12

Welch, Judy, and Janet Williams. "Fragile X Syndrome." Neonatal Network 18, no. 6 (September 1999): 15–22. http://dx.doi.org/10.1891/0730-0832.18.6.15.

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Fragile X syndrome is the most common inherited condition causing mental retardation in males. Females with the full mutation expansion can have milder signs of the disorder. Families with members who have been diagnosed with fragile X syndrome face concerns about the health of their newborn infant, decisions regarding family planning, and questions about the possibility that other family members could have this disorder. Neonatal nurses participate in assessment, health care management, counseling, and referral of the families regarding this syndrome.

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13

Halstead, Simon, H. M. Goodyear, and P. M. Sonkson. "Fragile X Syndrome." Journal of the Royal Society of Medicine 83, no. 6 (June 1990): 415. http://dx.doi.org/10.1177/014107689008300636.

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14

Einfeld, Stewart L. "Fragile X syndrome." Current Opinion in Psychiatry 6, no. 5 (October 1993): 655–57. http://dx.doi.org/10.1097/00001504-199310000-00009.

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15

Dunphy, Rebecca. "Fragile X syndrome." InnovAiT: Education and inspiration for general practice 13, no. 12 (October 7, 2020): 712–16. http://dx.doi.org/10.1177/1755738020958183.

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Fragile X syndrome is one of the most common genetic causes of learning disability. Patients with this and other neurodevelopmental disorders will often present to primary care before a diagnosis is made, and this can be challenging and worrying for patients and other carers. These patients may face a number of barriers in accessing healthcare services including communication, behavioural and sensory difficulties. It may be difficult to understand whether symptoms are part of their condition or because of a comorbidity that needs to be addressed. Input from families and carers can be vital in helping with diagnosis. This article aims to outline the key clinical features, diagnosis and management of this syndrome.

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16

McKinley, M. J., K. H. Nicolaides, L. U. Kearney, and O. Heron. "Fragile X syndrome." BMJ 295, no. 6603 (October 10, 1987): 922. http://dx.doi.org/10.1136/bmj.295.6603.922-a.

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17

Gordon, Debra. "Fragile X Syndrome." Neurology Now 7, no. 5 (October 2011): 37. http://dx.doi.org/10.1097/01.nnn.0000406989.86920.67.

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18

Turk, Jeremy. "Fragile X syndrome." Current Opinion in Psychiatry 24, no. 5 (September 2011): 387–97. http://dx.doi.org/10.1097/yco.0b013e328349bb77.

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19

Santos, Karen E. "Fragile X Syndrome." Remedial and Special Education 13, no. 2 (March 1992): 32–39. http://dx.doi.org/10.1177/074193259201300206.

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20

Wenstrom, K. "Fragile X syndrome." Heredity 90, no. 6 (May 23, 2003): 419–20. http://dx.doi.org/10.1038/sj.hdy.6800235.

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21

Sabaratnam, Manga. "Fragile-X syndrome." Psychiatry 5, no. 9 (September 2006): 325–30. http://dx.doi.org/10.1053/j.mppsy.2006.06.002.

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22

Schwarte, Andrea R. "Fragile X syndrome." School Psychology Quarterly 23, no. 2 (June 2008): 290–300. http://dx.doi.org/10.1037/1045-3830.23.2.290.

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23

Lyons, Justine I., Gregory R. Kerr, and Patricia W. Mueller. "Fragile X Syndrome." Journal of Molecular Diagnostics 17, no. 5 (September 2015): 463–71. http://dx.doi.org/10.1016/j.jmoldx.2015.04.006.

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24

Lombroso, Paul J. "FRAGILE X SYNDROME." Journal of the American Academy of Child & Adolescent Psychiatry 39, no. 4 (April 2000): 398–99. http://dx.doi.org/10.1097/00004583-200004000-00003.

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25

Levitas, Andrew. "FRAGILE X SYNDROME." Journal of the American Academy of Child & Adolescent Psychiatry 39, no. 4 (April 2000): 398. http://dx.doi.org/10.1097/00004583-200004000-00004.

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26

Hagerman, Randi J. "Fragile X Syndrome." Child and Adolescent Psychiatric Clinics of North America 5, no. 4 (October 1996): 895–911. http://dx.doi.org/10.1016/s1056-4993(18)30339-0.

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27

Chudley, Albert E., and Randi J. Hagerman. "Fragile X syndrome." Journal of Pediatrics 110, no. 6 (June 1987): 821–31. http://dx.doi.org/10.1016/s0022-3476(87)80392-x.

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28

Reiss, A. L. "Fragile X syndrome." Biological Psychiatry 37, no. 9 (May 1995): 629. http://dx.doi.org/10.1016/0006-3223(95)94541-4.

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29

Cronister, Amy Elizabeth, and Randi Jenssen Hagerman. "Fragile X syndrome." Journal of Pediatric Health Care 3, no. 1 (January 1989): 9–19. http://dx.doi.org/10.1016/0891-5245(89)90044-8.

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30

Phillips, John P., and Gregory A. Wilson. "Fragile X syndrome." Indian Journal of Pediatrics 65, no. 2 (March 1998): 181–91. http://dx.doi.org/10.1007/bf02752293.

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31

Garber, Kathryn B., Jeannie Visootsak, and Stephen T. Warren. "Fragile X syndrome." European Journal of Human Genetics 16, no. 6 (April 9, 2008): 666–72. http://dx.doi.org/10.1038/ejhg.2008.61.

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32

Hayes, E. W., and R. Matalon. "Fragile X Syndrome." PEDIATRICS 124, no. 2 (July 5, 2009): 790–92. http://dx.doi.org/10.1542/peds.2009-0569.

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33

Chakrabarti, Lisa, and Kay E. Davies. "Fragile X syndrome." Current Opinion in Neurology 10, no. 2 (April 1997): 142–47. http://dx.doi.org/10.1097/00019052-199704000-00012.

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34

Turk, J. "Fragile X syndrome." Archives of Disease in Childhood 72, no. 1 (January 1, 1995): 3–5. http://dx.doi.org/10.1136/adc.72.1.3.

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35

Magnay, D., J. Morritt, and T. Waterston. "Fragile X syndrome." Archives of Disease in Childhood 74, no. 1 (January 1, 1996): 88. http://dx.doi.org/10.1136/adc.74.1.88.

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36

Hagerman, Randi J. "Fragile X syndrome." Current Problems in Pediatrics 17, no. 11 (November 1987): 626–74. http://dx.doi.org/10.1016/0045-9380(87)90011-9.

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37

Donnenfeld, Alan E. "Fragile X syndrome." Indian Journal of Pediatrics 65, no. 4 (July 1998): 513–18. http://dx.doi.org/10.1007/bf02730883.

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38

Caskey, C. Thomas. "Fragile X Syndrome." JAMA 271, no. 7 (February 16, 1994): 552. http://dx.doi.org/10.1001/jama.1994.03510310082043.

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39

Terracciano, Alessandra, Pietro Chiurazzi, and Giovanni Neri. "Fragile X syndrome." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 137C, no. 1 (2005): 32–37. http://dx.doi.org/10.1002/ajmg.c.30062.

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40

Laxova, Renata. "Fragile X Syndrome." Advances in Pediatrics 41, no. 1 (1994): 305–42. http://dx.doi.org/10.1016/s0065-3101(24)00097-5.

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41

Leehey, Maureen A., Randi J. Hagerman, and Paul J. Hagerman. "Fragile X Syndrome vs Fragile X–Associated Tremor/Ataxia Syndrome." Archives of Neurology 64, no. 2 (February 1, 2007): 289. http://dx.doi.org/10.1001/archneur.64.2.289-a.

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42

Rajaratnam, Akash, Jasdeep Shergill, Maria Salcedo-Arellano, Wilmar Saldarriaga, Xianlai Duan, and Randi Hagerman. "Fragile X syndrome and fragile X-associated disorders." F1000Research 6 (December 8, 2017): 2112. http://dx.doi.org/10.12688/f1000research.11885.1.

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Fragile X syndrome (FXS) is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems. Over the past few years, there have been a number of advances in our knowledge of FXS and fragile X-associated disorders, and each of these advances offers significant clinical implications. Among these developments are a better understanding of the clinical impact of the phenomenon known as mosaicism, the revelation that various types of mutations can cause FXS, and improvements in treatment for FXS.

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43

Cellini, Elena, Paolo Forleo, Andrea Ginestroni, Benedetta Nacmias, Andrea Tedde, Silvia Bagnoli, Silvia Piacentini, Mario Mascalchi, and Sandro Sorbi. "Fragile X Syndrome vs Fragile X–Associated Tremor/Ataxia Syndrome—Reply." Archives of Neurology 64, no. 2 (February 1, 2007): 289. http://dx.doi.org/10.1001/archneur.64.2.289-b.

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44

Millichap, J. Gordon. "Fragile X Syndrome Workshop." Pediatric Neurology Briefs 14, no. 10 (October 1, 2000): 78. http://dx.doi.org/10.15844/pedneurbriefs-14-10-10.

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45

Millichap, J. Gordon. "Fragile X Syndrome Recognition." Pediatric Neurology Briefs 3, no. 2 (February 1, 1989): 11. http://dx.doi.org/10.15844/pedneurbriefs-3-2-3.

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46

Hoogeveen, A. T., and B. A. Oostra. "The fragile X syndrome." Journal of Inherited Metabolic Disease 20, no. 2 (June 1997): 139–51. http://dx.doi.org/10.1023/a:1005392319533.

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47

BROWN, W. TED, EDMUND C. JENKINS, MICHAEL S. KRAWCZUN, KRYSTYNA WISNIEWSKI, RAUL RUDELLI, IRA L. COHEN, GENE FISCH, ENID WOLF-SCHEIN, CHARLES MIEZEJESKI, and CARL DOBKIN. "The Fragile X Syndrome." Annals of the New York Academy of Sciences 477, no. 1 Mental Retard (December 1986): 129–50. http://dx.doi.org/10.1111/j.1749-6632.1986.tb40329.x.

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48

de Vries, B. B., D. J. Halley, B. A. Oostra, and M. F. Niermeijer. "The fragile X syndrome." Journal of Medical Genetics 35, no. 7 (July 1, 1998): 579–89. http://dx.doi.org/10.1136/jmg.35.7.579.

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49

Jacobs, P. A. "The fragile X syndrome." Journal of Medical Genetics 28, no. 12 (December 1, 1991): 809–10. http://dx.doi.org/10.1136/jmg.28.12.809.

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50

Thompson, E. M. "The Fragile X Syndrome." Archives of Disease in Childhood 65, no. 3 (March 1, 1990): 342. http://dx.doi.org/10.1136/adc.65.3.342-b.

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