imported>Kulupuko: /* Management */ Changed the name and formatting of some subheadings for style

2026-05-16T18:00:46Z

Management: Changed the name and formatting of some subheadings for style

imported>Augmented Seventh: Restored revision 1326674708 by Augmented Seventh (talk): The change dominant recessive will need source

2025-12-10T06:05:50Z

Restored revision 1326674708 by Augmented Seventh (talk): The change dominant recessive will need source

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184.57.228.36: /* Inheritance */

2025-10-30T00:08:49Z

Inheritance

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83.82.170.8: /* Autism */ clarification needed

2025-06-27T00:13:14Z

Autism: clarification needed

← Previous revision		Revision as of 00:13, 27 June 2025
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	=== Autism ===		=== Autism ===
	Fragile X syndrome co-occurs with autism in many cases and is a suspected genetic cause of the autism in these cases.<ref name=McLennan/><ref name=Bud/> This finding has resulted in screening for FMR1 mutation to be considered mandatory in children diagnosed with autism.<ref name=McLennan/> Of those with fragile X syndrome, prevalence of concurrent [[autism spectrum disorder]] (ASD) has been estimated to be between 15 and 60%, with the variation due to differences in diagnostic methods and the high frequency of autistic features in individuals with fragile X syndrome not meeting the DSM criteria for an ASD.<ref name=Bud/>		Fragile X syndrome co-occurs with autism in many cases and is a suspected genetic cause of the autism in these cases.<ref name=McLennan/><ref name=Bud/> This finding has resulted in screening for FMR1 mutation to be considered mandatory in children diagnosed with autism.<ref name=McLennan/>{{By whom\|date=June 2025}} Of those with fragile X syndrome, prevalence of concurrent [[autism spectrum disorder]] (ASD) has been estimated to be between 15 and 60%, with the variation due to differences in diagnostic methods and the high frequency of autistic features in individuals with fragile X syndrome not meeting the DSM criteria for an ASD.<ref name=Bud/>

	Although individuals with FXS have difficulties in forming friendships, those with FXS and ASD characteristically also have difficulties with reciprocal conversation with their peers. Social withdrawal behaviors, including avoidance and indifference, appear to be the best predictors of ASD in FXS, with avoidance appearing to be correlated more with social anxiety while indifference was more strongly correlated to ASD.<ref name=Bud/> When both autism and FXS are present, a greater language deficit and lower IQ is observed as compared to children with only FXS.<ref name=book>Hagerman, Randi J., and Paul J. Hagerman. ''Fragile X syndrome: diagnosis, treatment, and research''. 3, illustrated ed. Baltimore, MD: JHU P, 2002.{{page needed\|date=December 2013}}</ref>		Although individuals with FXS have difficulties in forming friendships, those with FXS and ASD characteristically also have difficulties with reciprocal conversation with their peers. Social withdrawal behaviors, including avoidance and indifference, appear to be the best predictors of ASD in FXS, with avoidance appearing to be correlated more with social anxiety while indifference was more strongly correlated to ASD.<ref name=Bud/> When both autism and FXS are present, a greater language deficit and lower IQ is observed as compared to children with only FXS.<ref name=book>Hagerman, Randi J., and Paul J. Hagerman. ''Fragile X syndrome: diagnosis, treatment, and research''. 3, illustrated ed. Baltimore, MD: JHU P, 2002.{{page needed\|date=December 2013}}</ref>

162.71.241.11 at 17:55, 19 June 2025

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	<!-- Definition and symptoms -->		<!-- Definition and symptoms -->
	'''Fragile X syndrome''' ('''FXS''') is a [[genetic disorder\|genetic]] [[neurodevelopmental disorder]].<ref name="NIH2012GHR">{{cite web\|url=https://ghr.nlm.nih.gov/condition/fragile-x-syndrome\|title=fragile X syndrome\|date=April 2012\|website=Genetics Home Reference\|url-status=live\|archive-url=https://web.archive.org/web/20161009162713/https://ghr.nlm.nih.gov/condition/fragile-x-syndrome\|archive-date=9 October 2016\|access-date=7 October 2016}}</ref> The average [[Intelligence quotient\|IQ]] in males with FXS is under 55, while affected females tend to be in the borderline to normal range, typically around ~~70-85~~.<ref>{{cite journal \| vauthors = Raspa M, Wheeler AC, Riley C \| title = Public Health Literature Review of Fragile X Syndrome \| journal = Pediatrics \| volume = 139 \| issue = Suppl 3 \| pages = S153–S171 \| date = June 2017 \| pmid = 28814537 \| pmc = 5621610 \| doi = 10.1542/peds.2016-1159C }}</ref><ref name = data>{{Cite news\|url=https://www.cdc.gov/ncbddd/fxs/data.html\|title=Data and Statistics Fragile X Syndrome (FXS)\|date=2018-08-09\|work=Centers for Disease Control and Prevention\|access-date=2018-11-05\|language=en-us\|archive-date=2019-10-13\|archive-url=https://web.archive.org/web/20191013033336/https://www.cdc.gov/ncbddd/fxs/data.html\|url-status=live}}</ref> Physical features may include a long and [[narrow face]], large ears, flexible fingers, and [[macroorchidism\|large testicles]].<ref name=NIH2012GHR/> About a third of those affected have features of [[autism]] such as problems with social interactions and delayed speech.<ref name=NIH2012GHR/> [[Hyperactivity]] is common, and [[seizure]]s occur in about 10%.<ref name=NIH2012GHR/> Males are usually more affected than females.<ref name=NIH2012GHR/>		'''Fragile X syndrome''' ('''FXS''') is a [[genetic disorder\|genetic]] [[neurodevelopmental disorder]].<ref name="NIH2012GHR">{{cite web\|url=https://ghr.nlm.nih.gov/condition/fragile-x-syndrome\|title=fragile X syndrome\|date=April 2012\|website=Genetics Home Reference\|url-status=live\|archive-url=https://web.archive.org/web/20161009162713/https://ghr.nlm.nih.gov/condition/fragile-x-syndrome\|archive-date=9 October 2016\|access-date=7 October 2016}}</ref> The average [[Intelligence quotient\|IQ]] in males with FXS is under 55, while affected females tend to be in the borderline to normal range, typically around 70–85.<ref>{{cite journal \| vauthors = Raspa M, Wheeler AC, Riley C \| title = Public Health Literature Review of Fragile X Syndrome \| journal = Pediatrics \| volume = 139 \| issue = Suppl 3 \| pages = S153–S171 \| date = June 2017 \| pmid = 28814537 \| pmc = 5621610 \| doi = 10.1542/peds.2016-1159C }}</ref><ref name = data>{{Cite news\|url=https://www.cdc.gov/ncbddd/fxs/data.html\|title=Data and Statistics Fragile X Syndrome (FXS)\|date=2018-08-09\|work=Centers for Disease Control and Prevention\|access-date=2018-11-05\|language=en-us\|archive-date=2019-10-13\|archive-url=https://web.archive.org/web/20191013033336/https://www.cdc.gov/ncbddd/fxs/data.html\|url-status=live}}</ref> Physical features may include a long and [[narrow face]], large ears, flexible fingers, and [[macroorchidism\|large testicles]].<ref name=NIH2012GHR/> About a third of those affected have features of [[autism]] such as problems with social interactions and delayed speech.<ref name=NIH2012GHR/> [[Hyperactivity]] is common, and [[seizure]]s occur in about 10%.<ref name=NIH2012GHR/> Males are usually more affected than females.<ref name=NIH2012GHR/>

	<!-- Cause and diagnosis -->		<!-- Cause and diagnosis -->
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	<!-- Treatment and epidemiology -->		<!-- Treatment and epidemiology -->
	There is no cure.<ref name=CDC2017>{{cite web\|title= What is Fragile X Syndrome?\|url=https://www.cdc.gov/ncbddd/fxs/facts.html\|website= National Center on Birth Defects and Developmental Disabilities \|location = US \| publisher = Centers for Disease Control and Prevention\|access-date=10 May 2017\|language=en-us\|date=3 June 2022 \|url-status=live\|archive-url=https://web.archive.org/web/20170510171238/https://www.cdc.gov/ncbddd/fxs/facts.html\|archive-date=10 May 2017}}</ref> Early intervention is recommended, as it provides the most opportunity for developing a full range of skills.<ref name=NIH2016Tx>{{Cite web\|url=https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/treatments.aspx\|title=What are the treatments for Fragile X syndrome?\|website=www.nichd.nih.gov\|access-date=2016-11-21\|url-status=live\|archive-url=https://web.archive.org/web/20161121233205/https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/treatments.aspx\|archive-date=2016-11-21}}</ref> These interventions may include [[special education]], [[speech therapy]], [[physical therapy]], or [[behavioral therapy]].<ref name=CDC2017/><ref>{{cite web\|title=Therapy Treatments\|url=https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/therapytreatments.aspx\|website=NICHD\|access-date=10 May 2017\|url-status=live\|archive-url=https://web.archive.org/web/20170505024156/https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/therapytreatments.aspx\|archive-date=5 May 2017}}</ref> Medications may be used to treat associated [[seizure]]s, mood problems, aggressive behavior, or [[ADHD]].<ref>{{cite web\|title=Medication Treatments\|url=https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/medicationtreatments.aspx\|website=NICHD\|access-date=10 May 2017\|url-status=live\|archive-url=https://web.archive.org/web/20170505024215/https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/medicationtreatments.aspx\|archive-date=5 May 2017}}</ref> Fragile X syndrome tends to show more symptoms on affected males since females have another X chromosome which can compensate for the damaged one.<ref name = data/><ref>{{Cite web \|title=What is Fragile-X syndrome? \|url=https://www.yourgenome.org/theme/what-is-fragile-x-syndrome/ \|access-date=2025-03-25 \|website=@yourgenome · Science website \|language=en-GB}}</ref>		There is no cure.<ref name=CDC2017>{{cite web\|title= What is Fragile X Syndrome?\|url=https://www.cdc.gov/ncbddd/fxs/facts.html\|website= National Center on Birth Defects and Developmental Disabilities \|location = US \| publisher = Centers for Disease Control and Prevention\|access-date=10 May 2017\|language=en-us\|date=3 June 2022 \|url-status=live\|archive-url=https://web.archive.org/web/20170510171238/https://www.cdc.gov/ncbddd/fxs/facts.html\|archive-date=10 May 2017}}</ref> Early intervention is recommended, as it provides the most opportunity for developing a full range of skills.<ref name=NIH2016Tx>{{Cite web\|url=https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/treatments.aspx\|title=What are the treatments for Fragile X syndrome?\|website=www.nichd.nih.gov\|access-date=2016-11-21\|url-status=live\|archive-url=https://web.archive.org/web/20161121233205/https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/treatments.aspx\|archive-date=2016-11-21}}</ref> These interventions may include [[special education]], [[occupational therapy]], [[speech therapy]], [[physical therapy]], or [[behavioral therapy]].<ref name=CDC2017/><ref>{{cite web\|title=Therapy Treatments\|url=https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/therapytreatments.aspx\|website=NICHD\|access-date=10 May 2017\|url-status=live\|archive-url=https://web.archive.org/web/20170505024156/https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/therapytreatments.aspx\|archive-date=5 May 2017}}</ref> Medications may be used to treat associated [[seizure]]s, mood problems, aggressive behavior, or [[ADHD]].<ref>{{cite web\|title=Medication Treatments\|url=https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/medicationtreatments.aspx\|website=NICHD\|access-date=10 May 2017\|url-status=live\|archive-url=https://web.archive.org/web/20170505024215/https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/medicationtreatments.aspx\|archive-date=5 May 2017}}</ref> Fragile X syndrome tends to show more symptoms on affected males since females have another X chromosome which can compensate for the damaged one.<ref name = data/><ref>{{Cite web \|title=What is Fragile-X syndrome? \|url=https://www.yourgenome.org/theme/what-is-fragile-x-syndrome/ \|access-date=2025-03-25 \|website=@yourgenome · Science website \|language=en-GB}}</ref>

	==Signs and symptoms==		==Signs and symptoms==

imported>Natureium: infobox errror

2025-05-25T15:06:54Z

infobox errror