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Journal articles on the topic 'Fragile X syndrome; X-linked'

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Published: 4 June 2021

Last updated: 1 February 2022

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1

Turk, Jeremy. "The Fragile-X Syndrome." British Journal of Psychiatry 160, no. 1 (January 1992): 24–35. http://dx.doi.org/10.1192/bjp.160.1.24.

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The fragile-X syndrome accounts for up to 10% of individuals with mental handicap, and 50% of cases of X-linked mental retardation. Knowledge of the genetic basis of mental functioning, psychopathology, and neuropsychology is being furthered by this recently recognised condition. The disorder has considerable significance for psychiatrists, particularly, but by no means exclusively, those working in the field of mental handicap and with children. This review outlines the slow clarification of this complex and important behavioural phenotype and the implications of these advances for identification, diagnosis, genetic counselling and a wide range of management interventions.

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2

Mulley, JC, and GR Sutherland. "Diagnosis of fragile X syndrome." Fetal and Maternal Medicine Review 6, no. 1 (February 1994): 1–15. http://dx.doi.org/10.1017/s0965539500000942.

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Fragile X syndrome accounts for between one third and one half of all X-linked mental retardation. It is the most common cause of familial intellectual handicap and is second in prevalence only to Down’s syndrome among the mental retardations. The syndrome is known to affect about 1 in 2500 males and a similar number of females. It has been detected in all ethnic groups with access to modern medicine. The economic and social costs of this disorder made the determination of its molecular basis a high priority.

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3

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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4

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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5

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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6

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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7

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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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

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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10

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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11

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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12

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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13

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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14

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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15

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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16

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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17

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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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

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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20

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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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

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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23

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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24

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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25

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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26

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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27

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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28

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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29

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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30

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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31

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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32

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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33

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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34

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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35

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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36

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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37

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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38

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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39

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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40

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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41

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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42

RICHARDS, B. W., P. E. SYLVESTER, and CAROL BROOKER. "FRAGILE X-LINKED MENTAL RETARDATION: THE MARTIN-BELL SYNDROME." Journal of Intellectual Disability Research 25, no. 4 (June 28, 2008): 253–65. http://dx.doi.org/10.1111/j.1365-2788.1981.tb00115.x.

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43

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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44

Fryns, Jean-Pierre, Martine Borghgraef, Ted W. Brown, Jamel Chelly, Gene S. Fisch, Ben Hamel, Andr� Hanauer, et al. "9th International workshop on Fragile X syndrome and X-linked mental retardation." American Journal of Medical Genetics 94, no. 5 (2000): 345–60. http://dx.doi.org/10.1002/1096-8628(20001023)94:5<345::aid-ajmg1>3.0.co;2-z.

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45

Daneberga, Zanda, Zita Krūmiņa, Baiba Lāce, Daiga Bauze, and Rita Lugovska. "The fragile X syndrome: 13 years of experience." Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences. 65, no. 3-4 (January 1, 2011): 67–72. http://dx.doi.org/10.2478/v10046-011-0020-6.

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The fragile X syndrome: 13 years of experience Fragile X syndrome (FXS; MIM #300624; FRAXA, Xq27.3) is well known and a common cause of X-linked mental retardation. The syndrome is caused by dynamic mutation of FMR1 gene CpG island CGG repeats. Clinically FXS patients demonstrate delayed developmental milestones, particularly speech, attention-deficit/hyperactivity disorder, autistic features, and psychomotor development delay. Dysmorphic face and macroorchidism are important features in the postpubertal age. We present our 13-year experience with FXS patients who were confirmed by molecular diagnostic. Phenotype-genotype evaluation was made for 12 male FXS patients. Genotype-phenotype analysis did not reveal significant correlation between clinical symptoms observed in FXS patients and genotypes obtained from leucocytes DNA analysis. The prevalence of the fragile X syndrome in the Latvian male population was estimated to be 1/6428 (95% CI 5538-7552) or 15.55/100 000 males (95% CI 13.24 - 18.05). The prevalence of the fragile X syndrome among mentally retarded male patients was estimated to be 2.67%. The low number of diagnosed patients with fragile X syndrome demonstrated in our study led to the conclusion that fragile X syndrome is generally clinically unrecognised.

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46

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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47

Meguid, Nagwa A., Hazem M. Atta, Laila A. Rashed, Amr S. Gouda, Rehab O. Khalil, and Adel F. Hashish. "Autism and Fragile X: Is There a Neurochemical Link?" Open Access Macedonian Journal of Medical Sciences 2, no. 4 (December 15, 2014): 551–56. http://dx.doi.org/10.3889/oamjms.2014.099.

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BACKGROUND:Autism and Fragile X syndrome are intertwined. This study aimed at assessing Serotonin, Glutamate, and Gama Amino Butyric Acid (GABA) in autism and Fragile X syndrome patients and to detect possible neurochemical similarities between the 2 disorders that can be used as metabolic biomarkers.DESIGN AND METHODS: Eighty subjects divided into four groups, two diseased groups (20 male patients with Autism and 20 males with Fragile X syndrome) and two control groups (20 neurotypical male controls and 20 Down syndrome male patients) were included. Estimation of Serotonin, Glutamate and GABA were done using Enzyme linked Immunosorbent Assay (ELISA), Tandem Mass Spectrometry and high-pressure liquid chromatography (HPLC), respectively.RESULTS: Serotonin was, exclusively, significantly low in autistic children. GABA was significantly high in both autistic and Fragile X children only, but not in Down syndrome children. Glutamate was significantly high in children with autism, Fragile X and Down syndrome Children.CONCLUSIONS: Autism and Fragile X syndrome share some neurochemical similarities with regards of high Glutamate and GABA levels while Serotonin was significantly different in the 2 disorders and may be used a unique biomarker for autism.

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48

Saha, Sharmila, Parimal Karmakar, Chandrahas Chatterjee, Dalia Banerjee, Shyamal Das, and Uma B. Dasgupta. "Fragile X syndrome in Calcutta, India." Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 38, no. 3 (May 1, 2001): 264–71. http://dx.doi.org/10.1258/0004563011900498.

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Fragile-X-linked mental retardation usually results from amplification of the CGG repeat in the 5' untranslated region of the FMR1 gene. To assess the extent of variation of the CGG repeat in the population from the eastern region of India we studied 98 mentally retarded individuals living in and around Calcutta and identified 21 distinct alleles ranging in size from 8 to 44 CGG repeats. A repeat size of 28 was the most frequent; this value is different from the most frequent repeat size found in other studies, indicating a racial or ethnic variation. Patients with the clinical features of the syndrome have been found to carry expanded CGG repeats. Thus, it can be inferred that the expansion of CGG repeats may be a frequent cause of the syndrome in our population.

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49

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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50

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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