Fragile X syndrome history and symptoms: Difference between revisions
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== Overview == | ==Overview== | ||
There are few keys that help to diagnose the Fragile X syndrome, which includes significant family, developmental, cognitive, and neuropsychological histories. Family history needs to screened for any learning disabilities and mental retardation. Delayed milestones in early childhood may be another indicator of fragile x syndrome. Neuropsychological features like autistic-like behavior (especially poor eye contact, social avoidance, and hand biting/hand flapping) and anxiety disorder may also be present with fragile X syndrome. | There are few keys that help to diagnose the [[Fragile X syndrome|Fragile X syndrome,]] which includes significant family, [[developmental]], [[cognitive]], and [[neuropsychological]] histories. [[Family history|Family]] history needs to screened for any [[Learning disability|learning]] disabilities and [[mental retardation]]. Delayed [[developmental]] milestones in early [[childhood]] may be another indicator of fragile x syndrome. [[Neuropsychological]] features like [[Autistic disorder|autistic]]-like [[behavior]] (especially poor [[eye contact]], [[Social anxiety|social]] avoidance, and hand biting/hand [[Flapping tremor|flapping]]) and [[Anxiety disorder surgery|anxiety disorder]] may also be present with fragile X syndrome. | ||
== History and Symptoms == | ==History and Symptoms== | ||
[[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> | 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 | *Large and protruding ears | ||
*Elongated face | *Elongated face | ||
*Macroorchidism (large testicles in men after puberty) | *[[Macroorchidism]] (large testicles in men after puberty) | ||
*Flat foot | *Flat foot | ||
*High Arched palate | *High Arched palate | ||
*Hyperflexible finger joints | *Hyperflexible finger joints | ||
*Low muscle tone | *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> | The common features in child with Fragile X Syndrome include low IQ with [[learning]] difficulties ([[Intellectual disability|intellectual]] disabilities). Behavioral abnormalities includes [[Stereotypic movement disorder|stereotypic]] movements (e.g., hand-flapping) [[hyperactivity]], [[inattention]], poor [[Social anxiety|social]] interaction, limited [[eye contact]] and poor [[memory]]. Child with Fragile X syndrome often presents with [[Developmental disability|developmental]] delay (including delayed attainment of [[Motor skill|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== | ||
{{reflist|2}} | {{reflist|2}} | ||
Latest revision as of 20:53, 3 September 2021
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
There are few keys that help to diagnose the Fragile X syndrome, which includes significant family, developmental, cognitive, and neuropsychological histories. Family history needs to screened for any learning disabilities and mental retardation. Delayed developmental milestones in early childhood may be another indicator of fragile x syndrome. Neuropsychological features like autistic-like behavior (especially poor eye contact, social avoidance, and hand biting/hand flapping) and anxiety disorder may also be present with fragile X syndrome.
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.