Fragile X Syndrome Treatment & Management
- Author: Jennifer A Jewell, MD, MS; Chief Editor: Maria Descartes, MD more...
Workup and diagnosis of fragile X syndrome can be done on an outpatient basis. Routine care involves treating the medical problems that these patients commonly experience, including gastroesophageal reflux, sinusitis, and otitis media. During infant and early childhood healthcare maintenance visits, focus examination on possible hip dislocations, hernias, and hypotonia.
Consultations may include the following:
- Genetic specialist: Genetic counseling are important to inform patients and families and to assist with family planning and reproducive decisions.
- Speech and language therapist
- Occupational and physical therapist
- Behavioral intervention/modification team: Specific areas of focus include social eye contact and stress reduction training.
- Special education professional: Consultation with a special education professional is appropriate to assess the level of cognitive functioning, attention deficit hyperactivity disorder (ADHD) symptoms, and aggressiveness and to initiate sensory integration therapy for behavior problems.
- Psychology or behavioral specialist: This consultation is important to assist families with methods for decreasing negative behavior. Additionally, some patients with fragile X syndrome benefit from social skills–oriented therapy and individual counseling.
- Neurologist: Consult a neurologist if seizures persist.
- Otolaryngologist: Patients with chronic sinusitis and chronic otitis media require an evaluation by an otolaryngologist.
- Ophthalmologist: An ophthalmologic referral is important for patients with strabismus.
- Orthopedic surgeon: An orthopedic surgeon frequently assesses patients for abnormal gait caused by pes planus, which is managed with orthotic inserts or orthopedic shoes. Although scoliosis is rarely severe enough to warrant orthopedic surgical intervention, the degree of scoliosis should be assessed with spinal imaging. Referral to an orthopedic surgeon is required if the curvature is significant.
- Nutritionist: For patients with the Prader-Willi syndrome phenotype, consider referral to a nutritionist. Other consultations include experts in Prader-Willi syndrome to guide an exercise program, to assist with environmental solutions (eg, locking cabinets), and to educate about specific Prader-Willi interventions (Food Security and Red, Yellow, Green Dietary Programs).
A special diet is indicated in infants with significant gastroesophageal reflux. In these patients, thickened feeds may decrease the incidence of reflux; otherwise, no special diet is indicated.
No limitations of activity are indicated.
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. [Medline].
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. [Medline].
Martin JP, Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychi. 1943. 6:154-7.
Murphy MM. A review of mathematical learning disabilities in children with fragile X syndrome. Dev Disabil Res Rev. 2009. 15(1):21-7. [Medline].
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].
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. [Medline].
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. [Medline].
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. [Medline].
de Vries BB, Halley DJ, Oostra BA, Niermeijer MF. The fragile X syndrome. J Med Genet. 1998 Jul. 35(7):579-89. [Medline].
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. [Medline].
Oostra BA, Willemsen R. FMR1: a gene with three faces. Biochim Biophys Acta. 2009 Feb 19. [Medline].
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. [Medline]. [Full Text].
Health supervision for children with fragile x syndrome. Pediatrics. 2011 May. 127(5):994-1006. [Medline].
American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion. No. 338: Screening for fragile X syndrome. Obstet Gynecol. 2006 Jun. 107(6):1483-5. [Medline].
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. 2005 Jun. 62(6):962-6. [Medline].
Garber KB, Visootsak J, Warren ST. Fragile X syndrome. Eur J Hum Genet. 2008 Jun. 16(6):666-72. [Medline].
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. 2008 Apr 1. [Medline].
Hagerman RJ, Ono MY, Hagerman PJ. Recent advances in fragile X: a model for autism and neurodegeneration. Curr Opin Psychiatry. 2005 Sep. 18(5):490-6. [Medline].
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. 2009 Mar. 48(3):320-9. [Medline].
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. 2005 May 9. 579(12):2702-8. [Medline].
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. 2006 Sep 1. 140(17):1804-13. [Medline].
Kosinovsky B, Hermon S, Yoran-Hegesh R, et al. The yield of laboratory investigations in children with infantile autism. J Neural Transm. 2005 Apr. 112(4):587-96. [Medline].
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].
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. 2005 May. 67(5):412-7. [Medline].
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. 2005 Aug. 14(4):249-70. [Medline].
Terracciano A, Chiurazzi P, Neri G. Fragile X syndrome. Am J Med Genet C Semin Med Genet. 2005 Jul 11. [Medline].
Visootsak J, Warren ST, Anido A, Graham JM Jr. Fragile X syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila). 2005 Jun. 44(5):371-81. [Medline].
Wattendorf DJ, Muenke M. Diagnosis and management of fragile X syndrome. Am Fam Physician. 2005 Jul 1. 72(1):111-3. [Medline].
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. 2006 Aug. 52(8):1492-500. [Medline].