Fragile X Syndrome Differential Diagnoses

1. Stone WL, Basit H, Los E. Fragile X Syndrome. StatPearls. 2022 Jan. [QxMD MEDLINE Link]. [Full Text].

2. Kidd SA, Lachiewicz A, Barbouth D, et al. Fragile X syndrome: a review of associated medical problems. Pediatrics. 2014 Nov. 134 (5):995-1005. [QxMD MEDLINE Link]. [Full Text].

3. Lachiewicz AM, Dawson DV, Spiridigliozzi GA. Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. Am J Med Genet. 2000 Jun 5. 92(4):229-36. [QxMD MEDLINE Link].

4. Yrigollen CM, Durbin-Johnson B, Gane L, et al. AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med. 2012 Aug. 14(8):729-36. [QxMD MEDLINE Link].

5. Martin JP, Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychi. 1943. 6:154-7.

6. Lubs HA. A marker X chromosome. Am J Hum Genet. 1969 May. 21(3):231-44. [QxMD MEDLINE Link]. [Full Text].

7. Myers KA, van 't Hof FNG, Sadleir LG, et al. Fragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption. Pediatrics. 2019 Sep. 144 (3):[QxMD MEDLINE Link].

8. Murphy MM. A review of mathematical learning disabilities in children with fragile X syndrome. Dev Disabil Res Rev. 2009. 15(1):21-7. [QxMD MEDLINE Link].

9. De Smedt B, Swillen A, Verschaffel L, Ghesquiere P. Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review. Dev Disabil Res Rev. 2009. 15(1):4-10. [QxMD MEDLINE Link].

10. Del Hoyo Soriano L, Thurman AJ, Harvey DJ, Ted Brown W, Abbeduto L. Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome. J Neurodev Disord. 2018 Jun 20. 10 (1):22. [QxMD MEDLINE Link]. [Full Text].

11. Spath MA, Feuth TB, Smits AP, Yntema HG, Braat DD, Thomas CM. Predictors and risk model development for menopausal age in fragile X premutation carriers. Genet Med. 2011 Jul. 13(7):643-50. [QxMD MEDLINE Link].

12. Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, et al. Newborn, carrier, and early childhood screening recommendations for fragile x. Pediatrics. 2012 Dec. 130(6):1126-35. [QxMD MEDLINE Link].

13. Bailey DB Jr, Raspa M, Bishop E, Holiday D. No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey. Pediatrics. 2009 Aug. 124(2):527-33. [QxMD MEDLINE Link].

14. Wheeler AC, Gwaltney A, Raspa M, et al. Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation. Pediatrics. 2021 May. 147 (5):[QxMD MEDLINE Link]. [Full Text].

15. Reisinger DL, Shaffer RC, Tartaglia N, Berry-Kravis E, Erickson CA. Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome. Brain Sci. 2020 Apr 17. 10 (4):[QxMD MEDLINE Link]. [Full Text].

16. de Vries BB, Halley DJ, Oostra BA, Niermeijer MF. The fragile X syndrome. J Med Genet. 1998 Jul. 35(7):579-89. [QxMD MEDLINE Link].

17. Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, et al. Advances in the treatment of fragile X syndrome. Pediatrics. 2009 Jan. 123(1):378-90. [QxMD MEDLINE Link].

18. Oostra BA, Willemsen R. FMR1: a gene with three faces. Biochim Biophys Acta. 2009 Feb 19. [QxMD MEDLINE Link].

19. Smits AP, Dreesen JC, Post JG, Smeets DF, de Die-Smulders C, Spaans-van der Bijl T, et al. The fragile X syndrome: no evidence for any recent mutations. J Med Genet. 1993 Feb. 30(2):94-6. [QxMD MEDLINE Link]. [Full Text].

20. Hall SS, Dougherty RF, Reiss AL. Profiles of aberrant white matter microstructure in fragile X syndrome. Neuroimage Clin. 2016. 11:133-8. [QxMD MEDLINE Link]. [Full Text].

21. Health supervision for children with fragile x syndrome. Pediatrics. 2011 May. 127(5):994-1006. [QxMD MEDLINE Link].

22. Leigh MJS, Nguyen DV, Mu Y, et al. A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome. J Dev Behav Pediatr. 2013. 34:147–155. [Full Text].

Jennifer A Jewell, MD, MS Assistant Professor of Pediatrics, Tufts University School of Medicine; Pediatric Hospitalist, The Barbara Bush Children's Hospital at Maine Medical Center

Jennifer A Jewell, MD, MS is a member of the following medical societies: American Academy of Pediatrics, Massachusetts Medical Society, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Eric T Rush, MD, FAAP Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Clinical Geneticist, Children's Mercy Hospital of Kansas City

Eric T Rush, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Physicians

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Alexion Pharmaceuticals, Ultragenyx Pharmaceutical, Biomarin Pharmaceuticals, ObsEva, Inozyme Pharma, Ascendis Pharma<br/>Serve(d) as a speaker or a member of a speakers bureau for: Alexion Pharmaceuticals, Ultragenyx Pharmaceutical, and Biomarin Pharmaceuticals<br/>Received research grant from: Alexion Pharmaceuticals, Ultragenyx Pharmaceuticals.

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Michael Fasullo, PhD Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article