Fragile X syndrome history and symptoms: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
Line 11: Line 11:
[[Image:Fragile x syndrom.png|thumb|left|150px|Prominent characteristics of the syndrome include an elongated face, large or protruding ears, and [[low muscle tone]].]]
[[Image:Fragile x syndrom.png|thumb|left|150px|Prominent characteristics of the syndrome include an elongated face, large or protruding ears, and [[low muscle tone]].]]


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.
The physical features of Fragile X syndrome is prominent around the time of puberty. Physical features include:<ref name="pmid22043169">{{cite journal| author=McLennan Y, Polussa J, Tassone F, Hagerman R| title=Fragile x syndrome. | journal=Curr Genomics | year= 2011 | volume= 12 | issue= 3 | pages= 216-24 | pmid=22043169 | doi=10.2174/138920211795677886 | pmc=3137006 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22043169  }} </ref>
*Large and protruding ears
*Elongated face
*Macroorchidism (large testicles in men after puberty)
*Flat foot
*High Arched palate
*Hyperflexible finger joints
*Low muscle tone


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.
The common features in child with Fragile X Syndrome include low IQ with learning difficulties (intellectual disabilities). Behavioral abnormalities includes stereotypic movements (e.g., hand-flapping) hyperactivity, inattention, poor social interaction, limited eye contact and poor memory. Child with Fragile X syndrome often presents with developmental delay (including delayed attainment of motor and language milestones).<ref name="pmid8844080">{{cite journal| author=Fisch GS, Simensen R, Tarleton J, Chalifoux M, Holden JJ, Carpenter N | display-authors=etal| title=Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: a prospective multicenter analysis. | journal=Am J Med Genet | year= 1996 | volume= 64 | issue= 2 | pages= 356-61 | pmid=8844080 | doi=10.1002/(SICI)1096-8628(19960809)64:2<356::AID-AJMG24>3.0.CO;2-D | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8844080 }} </ref> Approximately, 20% of boy with Fragile X syndrome develops seizures (mostly simple or complex partial seizures)<ref name="pmid19693328">{{cite journal| author=Hagerman PJ, Stafstrom CE| title=Origins of epilepsy in fragile X syndrome. | journal=Epilepsy Curr | year= 2009 | volume= 9 | issue= 4 | pages= 108-12 | pmid=19693328 | doi=10.1111/j.1535-7511.2009.01309.x | pmc=2728488 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19693328 }} </ref>


== References ==
== References ==

Revision as of 19:18, 2 September 2021


Fragile X syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fragile X syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fragile X syndrome history and symptoms On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fragile X syndrome history and symptoms

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fragile X syndrome history and symptoms

CDC on Fragile X syndrome history and symptoms

Fragile X syndrome history and symptoms in the news

Blogs on Fragile X syndrome history and symptoms

Directions to Hospitals Treating Fragile X syndrome

Risk calculators and risk factors for Fragile X syndrome history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

History and Symptoms

File:Fragile x syndrom.png

The physical features of Fragile X syndrome is prominent around the time of puberty. Physical features include:[1]

  • Large and protruding ears
  • Elongated face
  • Macroorchidism (large testicles in men after puberty)
  • Flat foot
  • High Arched palate
  • Hyperflexible finger joints
  • Low muscle tone

The common features in child with Fragile X Syndrome include low IQ with learning difficulties (intellectual disabilities). Behavioral abnormalities includes stereotypic movements (e.g., hand-flapping) hyperactivity, inattention, poor social interaction, limited eye contact and poor memory. Child with Fragile X syndrome often presents with developmental delay (including delayed attainment of motor and language milestones).[2] Approximately, 20% of boy with Fragile X syndrome develops seizures (mostly simple or complex partial seizures)[3]

References

  1. ↑ McLennan Y, Polussa J, Tassone F, Hagerman R (2011). "Fragile x syndrome". Curr Genomics. 12 (3): 216–24. doi:10.2174/138920211795677886. PMC 3137006. PMID 22043169.
  2. ↑ Fisch GS, Simensen R, Tarleton J, Chalifoux M, Holden JJ, Carpenter N; et al. (1996). "Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: a prospective multicenter analysis". Am J Med Genet. 64 (2): 356–61. doi:10.1002/(SICI)1096-8628(19960809)64:2<356::AID-AJMG24>3.0.CO;2-D. PMID 8844080.
  3. ↑ Hagerman PJ, Stafstrom CE (2009). "Origins of epilepsy in fragile X syndrome". Epilepsy Curr. 9 (4): 108–12. doi:10.1111/j.1535-7511.2009.01309.x. PMC 2728488. PMID 19693328.

Template:WH

Template:WS

Retrieved from "https://www.wikidoc.org/index.php?title=Fragile_X_syndrome_history_and_symptoms&oldid=1712743"