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| ==Laboratory Findings== | | ==Laboratory Findings== |
| It is challenging to completely examine children with intellectual disabilities due to inadequate [[communication]] [[skills]]. Some malformations may be missed even with a comprehensive examination. Some [[malformations]] such as [[atrial septal defect]] [[(ASD)]], [[single kidney]], [[holoprosencephaly]], [[visual]] and [[hearing]] [[impairment]] may be missed. {{cite journal |vauthors=Kishore MT, Udipi GA, Seshadri SP |title=Clinical Practice Guidelines for Assessment and Management of intellectual disability |journal=Indian J Psychiatry |volume=61 |issue=Suppl 2 |pages=194–210 |date=January 2019 |pmid=30745696 |pmc=6345136 |doi=10.4103/psychiatry.IndianJPsychiatry_507_18 |url=}} | | It is challenging to completely examine children with intellectual disabilities due to inadequate [[communication]] [[skills]]. Some malformations may be missed even with a comprehensive examination. Some [[malformations]] such as [[atrial septal defect]] [[(ASD)]], [[single kidney]], [[holoprosencephaly]], [[visual]] and [[hearing]] [[impairment]] may be missed. {{cite journal |vauthors=Kishore MT, Udipi GA, Seshadri SP |title=Clinical Practice Guidelines for Assessment and Management of intellectual disability |journal=Indian J Psychiatry |volume=61 |issue=Suppl 2 |pages=194–210 |date=January 2019 |pmid=30745696 |pmc=6345136 |doi=10.4103/psychiatry.IndianJPsychiatry_507_18 |url=}} |
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| ====CT-Scan Findings====
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| [[Cranial MRI]] is the imaging of choice in obtaining [[clues]] to the [[etiology]] of ID.
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| ====MRI Findings====
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| [[Cranial MRI]] can show [[central nervous system]] [[malformations]] such as in [[tuberous sclerosis]] and [[neurofibromatosis]], [[hydrocephalus]], or [[schizencephaly]]. {{cite journal |vauthors=Kishore MT, Udipi GA, Seshadri SP |title=Clinical Practice Guidelines for Assessment and Management of intellectual disability |journal=Indian J Psychiatry |volume=61 |issue=Suppl 2 |pages=194–210 |date=January 2019 |pmid=30745696 |pmc=6345136 |doi=10.4103/psychiatry.IndianJPsychiatry_507_18 |url=}}
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| ====Other Imaging Findings====
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| There are no other imaging findings associated with intellectual disabilities.
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| ====Other Diagnostic Studies====
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| *[[Chromosomal microarray analysis]] to look for [[copy number variants]] seen in [[Cri du chat syndrome]] or [[DiGeorge syndrome]]. {{cite web |url=https://www.msdmanuals.com/professional/pediatrics/learning-and-developmental-disorders/intellectual-disability |title=Intellectual Disability - Pediatrics - MSD Manual Professional Edition |format= |work= |accessdate=}}
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| *[[Karyotyping]] to rule out [[Down Syndrome]] [[(trisomy 21)]] {{cite web |url=https://www.msdmanuals.com/professional/pediatrics/learning-and-developmental-disorders/intellectual-disability |title=Intellectual Disability - Pediatrics - MSD Manual Professional Edition |format= |work= |accessdate=}}
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| *Direct [[DNA]] studies for ruling out [[Fragile X]] [[syndrome]] {{cite web |url=https://www.msdmanuals.com/professional/pediatrics/learning-and-developmental-disorders/intellectual-disability |title=Intellectual Disability - Pediatrics - MSD Manual Professional Edition |format= |work= |accessdate=}}
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| *[[HIV]] test in high-risk [[infants]] {{cite web |url=https://www.msdmanuals.com/professional/pediatrics/learning-and-developmental-disorders/intellectual-disability |title=Intellectual Disability - Pediatrics - MSD Manual Professional Edition |format= |work= |accessdate=}}
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| *[[Urine]] and [[serum]] [[amino acid]] and [[organic acid]] [[analysis]] {{cite web |url=https://www.msdmanuals.com/professional/pediatrics/learning-and-developmental-disorders/intellectual-disability |title=Intellectual Disability - Pediatrics - MSD Manual Professional Edition |format= |work= |accessdate=}}
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| *[[Enzyme]] studies for [[storage diseases]] or [[peroxisomal]] disorders {{cite web |url=https://www.msdmanuals.com/professional/pediatrics/learning-and-developmental-disorders/intellectual-disability |title=Intellectual Disability - Pediatrics - MSD Manual Professional Edition |format= |work= |accessdate=}}
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| *[[Muscle enzymes]] {{cite web |url=https://www.msdmanuals.com/professional/pediatrics/learning-and-developmental-disorders/intellectual-disability |title=Intellectual Disability - Pediatrics - MSD Manual Professional Edition |format= |work= |accessdate=}}
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| *[[Electroencephalography]] [[(EEG)]] for patients with [[seizures]] {{cite web |url=https://www.msdmanuals.com/professional/pediatrics/learning-and-developmental-disorders/intellectual-disability |title=Intellectual Disability - Pediatrics - MSD Manual Professional Edition |format= |work= |accessdate=}}
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| *[[TORCH]] [[screening]] {{cite web |url=https://www.msdmanuals.com/professional/pediatrics/learning-and-developmental-disorders/intellectual-disability |title=Intellectual Disability - Pediatrics - MSD Manual Professional Edition |format= |work= |accessdate=}}
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| ==References== | | ==References== |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Chelsea Mae Nobleza, M.D.[2]
Overview
There are no specific diagnostic laboratory findings associated with an intellectual disability however, laboratory tests like imaging, genetic testing, chromosomal analysis, and enzyme levels assessment are done to determine possible cause of ID.
Laboratory Findings
It is challenging to completely examine children with intellectual disabilities due to inadequate communication skills. Some malformations may be missed even with a comprehensive examination. Some malformations such as atrial septal defect (ASD), single kidney, holoprosencephaly, visual and hearing impairment may be missed. Kishore MT, Udipi GA, Seshadri SP (January 2019). "Clinical Practice Guidelines for Assessment and Management of intellectual disability". Indian J Psychiatry. 61 (Suppl 2): 194–210. doi:10.4103/psychiatry.IndianJPsychiatry_507_18. PMC 6345136. PMID 30745696.
References
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