Fragile X syndrome history and symptoms: Difference between revisions
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Aside from intellectual disability, prominent characteristics of the syndrome include an elongated face, large or protruding ears, flat feet, larger testicles in men ([[macroorchidism]]), and [[low muscle tone]]. Speech may include [[cluttered speech]] or nervous speech<ref>http://www.wrongdiagnosis.com/f/fragile_x_syndrome/signs.htm</ref>. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness and limited eye contact. Some individuals with the fragile X syndrome also meet the diagnostic criteria for autism. | Aside from intellectual disability, prominent characteristics of the syndrome include an elongated face, large or protruding ears, flat feet, larger testicles in men ([[macroorchidism]]), and [[low muscle tone]]. Speech may include [[cluttered speech]] or nervous speech<ref>http://www.wrongdiagnosis.com/f/fragile_x_syndrome/signs.htm</ref>. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness and limited eye contact. Some individuals with the fragile X syndrome also meet the diagnostic criteria for autism. | ||
Most females experience symptoms to a lesser degree because of their second X-chromosome, however they can develop just as severe symptoms. In females, | Most females experience symptoms to a lesser degree because of their second X-chromosome, however they can develop just as severe symptoms. The symptoms of full mutation females runs the gamut of minimally affected to severe intellectual disability, which may explain why females are underdiagnosed relative to males. In females, the full-mutation but not premutation carriers have abnormal neuropsychological profiles including schizophrenia spectrum disorders.<ref name="pmid10579555">{{cite journal| author=Franke P, Leboyer M, Hardt J, Sohne E, Weiffenbach O, Biancalana V et al.| title=Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females | journal=Psychiatry Res | year= 1999 | volume= 87 | issue= 2-3 | pages= 223-31 | pmid=10579555 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10579555 }} </ref> However, other studies report both increase<ref name="pmid27615674">{{cite journal| author=Gossett A, Sansone S, Schneider A, Johnston C, Hagerman R, Tassone F et al.| title=Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome. | journal=Am J Med Genet B Neuropsychiatr Genet | year= 2016 | volume= 171 | issue= 8 | pages= 1139-1147 | pmid=27615674 | doi=10.1002/ajmg.b.32496 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27615674 }} </ref> and no increase<ref name="pmid26169437">{{cite journal| author=Bailey DB, Wheeler A, Berry-Kravis E, Hagerman R, Tassone F, Powell CM et al.| title=Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening. | journal=Pediatrics | year= 2015 | volume= 136 | issue= 2 | pages= e433-40 | pmid=26169437 | doi=10.1542/peds.2015-0414 | pmc=4516945 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26169437 }} </ref> in symptoms of carriers with the premutation. | ||
== References == | == References == | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
History and Symptoms
Aside from intellectual disability, prominent characteristics of the syndrome include an elongated face, large or protruding ears, flat feet, larger testicles in men (macroorchidism), and low muscle tone. Speech may include cluttered speech or nervous speech[1]. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness and limited eye contact. Some individuals with the fragile X syndrome also meet the diagnostic criteria for autism.
Most females experience symptoms to a lesser degree because of their second X-chromosome, however they can develop just as severe symptoms. The symptoms of full mutation females runs the gamut of minimally affected to severe intellectual disability, which may explain why females are underdiagnosed relative to males. In females, the full-mutation but not premutation carriers have abnormal neuropsychological profiles including schizophrenia spectrum disorders.[2] However, other studies report both increase[3] and no increase[4] in symptoms of carriers with the premutation.
References
- ↑ http://www.wrongdiagnosis.com/f/fragile_x_syndrome/signs.htm
- ↑ Franke P, Leboyer M, Hardt J, Sohne E, Weiffenbach O, Biancalana V; et al. (1999). "Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females". Psychiatry Res. 87 (2–3): 223–31. PMID 10579555.
- ↑ Gossett A, Sansone S, Schneider A, Johnston C, Hagerman R, Tassone F; et al. (2016). "Psychiatric disorders among women with the fragile X premutation without children affected by fragile X syndrome". Am J Med Genet B Neuropsychiatr Genet. 171 (8): 1139–1147. doi:10.1002/ajmg.b.32496. PMID 27615674.
- ↑ Bailey DB, Wheeler A, Berry-Kravis E, Hagerman R, Tassone F, Powell CM; et al. (2015). "Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening". Pediatrics. 136 (2): e433–40. doi:10.1542/peds.2015-0414. PMC 4516945. PMID 26169437.