Fragile X syndrome history and symptoms: Difference between revisions
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[[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]].]] | ||
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 | |||
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 == | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
History and Symptoms
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
- ↑ 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.
- ↑ 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.
- ↑ 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.