Fragile X Syndrome Differential Diagnoses

  • Author: Jennifer A Jewell, MD, MS; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 4, 2011
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Jennifer A Jewell, MD, MS  Assistant Professor, Department of Pediatrics, University of Vermont 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, and Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

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: American Society for Biochemistry and Molecular Biology, Environmental Mutagen Society, Genetics Society of America, and Radiation Research 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.

David Flannery, MD, FAAP, FACMG  Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

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

  2. Lubs HA. A marker X chromosome. Am J Hum Genet. May 1969;21(3):231-44. [Medline]. [Full Text].

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

  4. 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. [Medline].

  5. 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. Jul 2011;13(7):643-50. [Medline].

  6. 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. Aug 2009;124(2):527-33. [Medline].

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

  8. 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. Jun 5 2000;92(4):229-36. [Medline].

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

  10. Oostra BA, Willemsen R. FMR1: a gene with three faces. Biochim Biophys Acta. Feb 19 2009;[Medline].

  11. Health supervision for children with fragile x syndrome. Pediatrics. May 2011;127(5):994-1006. [Medline].

  12. American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion. No. 338: Screening for fragile X syndrome. Obstet Gynecol. Jun 2006;107(6):1483-5. [Medline].

  13. Biancalana V, Toft M, Le Ber I, et al. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch Neurol. Jun 2005;62(6):962-6. [Medline].

  14. Brown WT. Perspectives and molecular diagnosis of the fragile X syndrome. Clin Lab Med. Dec 1995;15(4):859-75. [Medline].

  15. Brown WT. The fragile X: progress toward solving the puzzle. Am J Hum Genet. Aug 1990;47(2):175-80. [Medline].

  16. Davids JR, Hagerman RJ, Eilert RE. Orthopaedic aspects of fragile-X syndrome. J Bone Joint Surg Am. Jul 1990;72(6):889-96. [Medline].

  17. Dyer-Friedman J, Glaser B, Hessl D, et al. Genetic and environmental influences on the cognitive outcomes of children with fragile X syndrome. J Am Acad Child Adolesc Psychiatry. Mar 2002;41(3):237-44. [Medline].

  18. Finucane B. Should all pregnant women be offered carrier testing for fragile X syndrome?. Clin Obstet Gynecol. Dec 1996;39(4):772-82. [Medline].

  19. Garber KB, Visootsak J, Warren ST. Fragile X syndrome. Eur J Hum Genet. Jun 2008;16(6):666-72. [Medline].

  20. Gleicher N, Weghofer A, Barad DH. A pilot study of premature ovarian senescence: I. Correlation of triple CGG repeats on the FMR1 gene to ovarian reserve parameters FSH and anti-Müllerian hormone. Fertil Steril. Apr 1 2008;[Medline].

  21. Goldson E, Hagerman RJ. The fragile X syndrome. Dev Med Child Neurol. Sep 1992;34(9):826-32. [Medline].

  22. Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet. May 2004;74(5):805-16. [Medline].

  23. Hagerman RJ, Ono MY, Hagerman PJ. Recent advances in fragile X: a model for autism and neurodegeneration. Curr Opin Psychiatry. Sep 2005;18(5):490-6. [Medline].

  24. Hall SS, Lightbody AA, Huffman LC, Lazzeroni LC, Reiss AL. Physiological correlates of social avoidance behavior in children and adolescents with fragile x syndrome. J Am Acad Child Adolesc Psychiatry. Mar 2009;48(3):320-9. [Medline].

  25. Handa V, Goldwater D, Stiles D, et al. Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles. FEBS Lett. May 9 2005;579(12):2702-8. [Medline].

  26. Hatton DD, Sideris J, Skinner M, et al. Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet A. Sep 1 2006;140(17):1804-13. [Medline].

  27. Hessl D, Dyer-Friedman J, Glaser B, et al. The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile x syndrome. Pediatrics. Nov 2001;108(5):88. [Medline].

  28. Kenneson A, Warren ST. The female and the fragile X reviewed. Semin Reprod Med. Jun 2001;19(2):159-65. [Medline].

  29. Kosinovsky B, Hermon S, Yoran-Hegesh R, et al. The yield of laboratory investigations in children with infantile autism. J Neural Transm. Apr 2005;112(4):587-96. [Medline].

  30. Laxova R. Fragile X syndrome. Adv Pediatr. 1994;41:305-42. [Medline].

  31. Loesch DZ, Churchyard A, Brotchie P, Marot M, Tassone F. Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond. Clin Genet. May 2005;67(5):412-7. [Medline].

  32. McConkie-Rosell A, Finucane B, Cronister A, Abrams L, Bennett RL, Pettersen BJ. Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors. J Genet Couns. Aug 2005;14(4):249-70. [Medline].

  33. Murray J, Cuckle H, Taylor G, Hewison J. Screening for fragile X syndrome: information needs for health planners. J Med Screen. 1997;4(2):60-94. [Medline].

  34. Neri G, Opitz JM. Sixty years of X-linked mental retardation: a historical footnote. Am J Med Genet. Fall 2000;97(3):228-33. [Medline].

  35. Oostra BA, Halley DJ. Complex behavior of simple repeats: the fragile X syndrome. Pediatr Res. Nov 1995;38(5):629-37. [Medline].

  36. Reiss AL, Freund L. Fragile X syndrome. Biol Psychiatry. Jan 15 1990;27(2):223-40. [Medline].

  37. Simensen RJ, Rogers RC. Fragile-X syndrome. Am Fam Physician. May 1989;39(5):185-93. [Medline].

  38. Sotos JF. Genetic disorders associated with overgrowth. Clin Pediatr (Phila). Jan 1997;36(1):39-49. [Medline].

  39. Sutherland GR, Mulley JC. Fragile X syndrome and fragile XE mental retardation. Prenat Diagn. Dec 1996;16(13):1199-211. [Medline].

  40. Tarleton JC, Saul RA. Molecular genetic advances in fragile X syndrome. J Pediatr. Feb 1993;122(2):169-85. [Medline].

  41. Terracciano A, Chiurazzi P, Neri G. Fragile X syndrome. Am J Med Genet C Semin Med Genet. Jul 11 2005;[Medline].

  42. Turk J. The fragile-X syndrome. On the way to a behavioural phenotype. Br J Psychiatry. Jan 1992;160:24-35. [Medline].

  43. Visootsak J, Warren ST, Anido A, Graham JM Jr. Fragile X syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila). Jun 2005;44(5):371-81. [Medline].

  44. Warren ST, Nelson DL. Advances in molecular analysis of fragile X syndrome [see comments]. JAMA. Feb 16 1994;271(7):536-42. [Medline].

  45. Wattendorf DJ, Muenke M. Diagnosis and management of fragile X syndrome. Am Fam Physician. Jul 1 2005;72(1):111-3. [Medline].

  46. Weinhausel A, Haas OA. Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR. Hum Genet. Jun 2001;108(6):450-8. [Medline].

  47. Zhou Y, Lum JM, Yeo GH, Kiing J, Tay SK, Chong SS. Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis. Clin Chem. Aug 2006;52(8):1492-500. [Medline].

 
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