Autism laboratory findings: Difference between revisions
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==Overview== | ==Overview== | ||
There are no specific laboratory findings associated with autism. However, chromosomal studies for genetic deletions may be considered, once the diagnosis of autism has been made. | There are no specific laboratory findings associated with autism. However, [[chromosomal]] studies for [[genetic]] deletions may be considered, once the diagnosis of autism has been made. | ||
==Laboratory Findings== | ==Laboratory Findings== | ||
There are no specific laboratory findings associated with autism. However, chromosomal studies for genetic deletions may be considered, once the diagnosis of autism has been made. The most commonly associated conditions with autism include fragile X syndrome and MECP2 deletion. | There are no specific laboratory findings associated with autism. However, [[chromosomal]] studies for [[genetic]] deletions may be considered, once the diagnosis of autism has been made. The most commonly associated conditions with autism include [[fragile X syndrome]] and [[MECP2]] deletion. | ||
*It is estimated that around 40% cases of autism are related to genetic causes.<ref>{{cite journal |journal= Genet Med |date=2008 |volume=10 |issue=1 |pages=4–12 |title= Genetics evaluation for the etiologic diagnosis of autism spectrum disorders |author= Schaefer GB, Mendelsohn NJ |doi=10.1097/GIM.0b013e31815efdd7 |pmid=18197051 |laysummary=http://www.medicalnewstoday.com/articles/96448.php |laysource= Medical News Today |laydate=2008-02-07}}</ref><ref name=McMahon>{{cite journal |journal= Am J Med Genet C Semin Med Genet |date=2006 |volume=142C |issue=1 |pages=52–7 |title= Genetic counseling and ethical issues for autism |author= McMahon WM, Baty BJ, Botkin J |doi=10.1002/ajmg.c.30082 |pmid=16419100}}</ref> | *It is estimated that around 40% cases of autism are related to [[genetic]] causes.<ref>{{cite journal |journal= Genet Med |date=2008 |volume=10 |issue=1 |pages=4–12 |title= Genetics evaluation for the etiologic diagnosis of autism spectrum disorders |author= Schaefer GB, Mendelsohn NJ |doi=10.1097/GIM.0b013e31815efdd7 |pmid=18197051 |laysummary=http://www.medicalnewstoday.com/articles/96448.php |laysource= Medical News Today |laydate=2008-02-07}}</ref><ref name="McMahon">{{cite journal |journal= Am J Med Genet C Semin Med Genet |date=2006 |volume=142C |issue=1 |pages=52–7 |title= Genetic counseling and ethical issues for autism |author= McMahon WM, Baty BJ, Botkin J |doi=10.1002/ajmg.c.30082 |pmid=16419100}}</ref> | ||
*Other laboratory tests such as [[metabolic]] tests are sometimes helpful, but are not routine. | *Other laboratory tests such as [[metabolic]] tests are sometimes helpful, but are not routine. | ||
*Skin examination using woods light may show underlying hypopigmented macules (in tuberous sclerosis). | *Skin examination using woods light may show underlying [[Hypopigmented area|hypopigmented]] macules (in [[tuberous sclerosis]]). | ||
==References== | ==References== | ||
Latest revision as of 03:21, 2 April 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Akshun Kalia M.B.B.S.[2]
Overview
There are no specific laboratory findings associated with autism. However, chromosomal studies for genetic deletions may be considered, once the diagnosis of autism has been made.
Laboratory Findings
There are no specific laboratory findings associated with autism. However, chromosomal studies for genetic deletions may be considered, once the diagnosis of autism has been made. The most commonly associated conditions with autism include fragile X syndrome and MECP2 deletion.
- It is estimated that around 40% cases of autism are related to genetic causes.[1][2]
- Other laboratory tests such as metabolic tests are sometimes helpful, but are not routine.
- Skin examination using woods light may show underlying hypopigmented macules (in tuberous sclerosis).
References
- ↑ Schaefer GB, Mendelsohn NJ (2008). "Genetics evaluation for the etiologic diagnosis of autism spectrum disorders". Genet Med. 10 (1): 4–12. doi:10.1097/GIM.0b013e31815efdd7. PMID 18197051. Lay summary – Medical News Today (2008-02-07).
- ↑ McMahon WM, Baty BJ, Botkin J (2006). "Genetic counseling and ethical issues for autism". Am J Med Genet C Semin Med Genet. 142C (1): 52–7. doi:10.1002/ajmg.c.30082. PMID 16419100.