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| ==[[Mental retardation overview|Overview]]== | | ==[[Mental retardation overview|Overview]]== |
| Intellectual disability (ID) belongs to [[neurodevelopmental]] [[disorders]] that affect [[children]] and [[adolescents]] during the [[developmental]] [[period]]. It is categorized into four subclasses that determine the need for [[support]]. This condition is characterized by [[impairments]] in both [[intellectual]] and [[adaptive]] [[functions]]. [[Research]] involving ID has found that [[genes]] that [[encode]] [[cognitive]] abilities play an essential role in its [[pathophysiology]]. An [[interplay]] of [[environment]] and [[genetics]] can cause ID, and [[comprehensive]] [[screening]] is done in these cases. More importantly, ID has existing [[co-morbid]] [[conditions]], which makes [[treatment]] and [[care]] a [[challenge]].
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| ==[[Mental retardation historical perspective|Historical Perspective]]== | | ==[[Mental retardation historical perspective|Historical Perspective]]== |
| Intellectual disability traces its roots back to [[ancient civilizations]]. The [[Egyptians]] focused on treating [[disabilities]] and other [[ailments]], while [[Greek]] and [[Roman]] [[Civilizations]] negatively viewed [[disability]], killing those with disabilities. During the [[Middle Ages]], [[intellectual disability]] revolved around [[religion]] and [[superstitions]]. The [[Church]] became a [[refuge]] for the [[individual]] with disabilities by providing shelter. The [[Restoration period]] associated [["idiocy"]] and [[mental illness]] with [[immortality]] for which having a [[disability]] is a [[punishment]].
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| In the [[17th century]], [[John Locke]] differentiated intellectual disabilities from [[physical ones]], where both [[mental]] and [[emotional]] [[deficits]] characterized [[intellectual]] [[disabilities]]. [[Oxford]] [[Philosopher]] [[Willis]] pinpointed various [[etiologies]] for a [[mental disability]] such as [[heredity]], [[trauma]], other [[diseases]], and [[spirits]]. <ref name="RothSarawgi2019">{{cite journal|last1=Roth|first1=Emily A.|last2=Sarawgi|first2=Shivali N.|last3=Fodstad|first3=Jill C.|title=History of Intellectual Disabilities|year=2019|pages=3–16|issn=2192-922X|doi=10.1007/978-3-030-20843-1_1}}</ref>
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| ==[[Mental retardation classification|Classification]]== | | ==[[Mental retardation classification|Classification]]== |
| The [[DSM 5]] Classification of Severity for Intellectual disability has veered away from [[IQ scores]] and now considers [[adaptive]] [[functioning]] as the basis for classification.<ref name="PatelApple2018">{{cite journal|last1=Patel|first1=Dilip R.|last2=Apple|first2=Roger|last3=Kanungo|first3=Shibani|last4=Akkal|first4=Ashley|title=Intellectual disability: definitions, evaluation and principles of treatment|journal=Pediatric Medicine|volume=1|year=2018|pages=11–11|issn=26175428|doi=10.21037/pm.2018.12.02}}</ref> <ref>{{cite journal|title=Neurodevelopmental Disorders|year=2013|doi=10.1176/appi.books.9780890425596.dsm01}}</ref>
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| {| class="wikitable" style="text-align:center"
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| |+Classification of Intellectual Disability
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| !Severity Level!![[Conceptual]] Skills!![[Social]] Skills!![[Practical]] Skills
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| !Mild
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| |Individuals can grasp simple [[mathematical]] [[operations]] like [[multiplication]] and [[division]], [[write]] [[letters]] and [[lists]]; however, they have difficulty with [[complex]] [[tasks]] such as [[planning]], [[strategizing]], and [[abstract thinking]].||They have difficulty interpreting [[social cues]], and there is risk for [[manipulation]].||They can do [[essential]] [[self-care]] and [[home]] [[activities]] as well as [[job]] [[applications]] but may require some [[support]] in [[banking]], [[transportation]] and even [[raising]] a [[family]].
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| !Moderate
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| |[[Academic]] [[skill]] [[development]] is markedly slowed compared to [[peers]] and [[adults]] attain [[elementary]] level of [[knowledge]]. They can do [[basic]] [[skills]] like [[copy]] [[address]] and basic [[reading]].||There is a considerable gap in [[social skills]] compared to [[peers]]. They need constant [[support]] to succeed in [[communications]] in the [[work]] [[setting]].||There is some [[independence]] in [[self-care]] and [[house chores]] with [[constant]] [[reinforcement]].
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| !Severe
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| |[[Language]], [[arithmetic]], the [[concept]] of [[time]], and [[money]] are markedly limited, and they need constant [[support]] in [[life]].||[[Speech]] is characterized by [[simple]] [[phrases]] and [[words]].||[[Constant]] support in all [[activities of daily living| ADL]] is needed as they may also have [[motor]] [[comorbidities]].
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| !Profound
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| |Very limited [[communication]] [[skills]] but may acquire [[visuospatial]] [[skills]] such as [[matching]] and [[sorting]].||The individual communicates through [[non-verbal]] means and there may also be [[co-morbid]] [[motor]] and [[sensory]] [[impairments]].||Require daily supervision across a lifetime.
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| |}
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| ==[[Mental retardation pathophysiology|Pathophysiology]]== | | ==[[Mental retardation pathophysiology|Pathophysiology]]== |
| Intellectual disorders with intact [[cortex]] have found that most of the known [[genes]] influencing [[cognitive]] [[abilities]] are [[X-linked]]. These [[genes]] [[code]] for different [[proteins]] and some are involved in [[neuronal]] [[connectivity]] and [[synapse]] formation and activity.
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| Recent progress in unraveling the [[pathophysiology]] of ID involves defects in [[synaptogenesis]] and [[synaptic]] activities, including [[neuroplasticity]].
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| An important [[finding]] that [[illustrates]] the importance of [[synapses]] in the occurrence of ID involves the [[FMRP]] [[protein]] that is absent in [[Fragile X syndrome]]. The [[FMRP]] [[protein]] is normally detected in the [[nucleus]], [[body]], and [[dendrites]]. It is [[upregulated]] by [[glutamate]]-mediated [[stimulation]]—the specific [[knockout]] of [[Fmr1]] results in abnormal [[morphology]] of [[dendrites]] in [[Purkinje cells]] in the [[cerebellum]]. Therefore, defects in [[synaptic]] structure and overall [[neuronal]] [[connectivity]] impairs proper [[information]] [[processing]]. <ref name="ChellyKhelfaoui2006">{{cite journal|last1=Chelly|first1=Jamel|last2=Khelfaoui|first2=Malik|last3=Francis|first3=Fiona|last4=Chérif|first4=Beldjord|last5=Bienvenu|first5=Thierry|title=Genetics and pathophysiology of mental retardation|journal=European Journal of Human Genetics|volume=14|issue=6|year=2006|pages=701–713|issn=1018-4813|doi=10.1038/sj.ejhg.5201595}}</ref> <ref name="KoekkoekYamaguchi2005">{{cite journal|last1=Koekkoek|first1=S.K.E.|last2=Yamaguchi|first2=K.|last3=Milojkovic|first3=B.A.|last4=Dortland|first4=B.R.|last5=Ruigrok|first5=T.J.H.|last6=Maex|first6=R.|last7=De Graaf|first7=W.|last8=Smit|first8=A.E.|last9=VanderWerf|first9=F.|last10=Bakker|first10=C.E.|last11=Willemsen|first11=R.|last12=Ikeda|first12=T.|last13=Kakizawa|first13=S.|last14=Onodera|first14=K.|last15=Nelson|first15=D.L.|last16=Mientjes|first16=E.|last17=Joosten|first17=M.|last18=De Schutter|first18=E.|last19=Oostra|first19=B.A.|last20=Ito|first20=M.|last21=De Zeeuw|first21=C.I.|title=Deletion of FMR1 in Purkinje Cells Enhances Parallel Fiber LTD, Enlarges Spines, and Attenuates Cerebellar Eyelid Conditioning in Fragile X Syndrome|journal=Neuron|volume=47|issue=3|year=2005|pages=339–352|issn=08966273|doi=10.1016/j.neuron.2005.07.005}}</ref>
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| ==[[Mental retardation causes|Causes]]== | | ==[[Mental retardation causes|Causes]]== |
| In less than 50% of individuals with [[mild]] ID, a specific cause is identified, and it increases to 75% in those with [[severe]] ID. <ref name="MoeschlerShevell2014">{{cite journal|last1=Moeschler|first1=J. B.|last2=Shevell|first2=M.|title=Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays|journal=PEDIATRICS|volume=134|issue=3|year=2014|pages=e903–e918|issn=0031-4005|doi=10.1542/peds.2014-1839}}</ref>
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| ===Genetics===
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| [[Down syndrome]] [[(Trisomy 21)]] is the most common [[genetic]] [[cause]] of ID, while [[Fragile X]] is the most common [[inherited]] [[cause]] of ID.
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| <ref name="MoeschlerShevell2014">{{cite journal|last1=Moeschler|first1=J. B.|last2=Shevell|first2=M.|title=Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays|journal=PEDIATRICS|volume=134|issue=3|year=2014|pages=e903–e918|issn=0031-4005|doi=10.1542/peds.2014-1839}}</ref>
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| ===Environmental Factors===
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| [[Alcohol]] [[exposure]] during [[pregnancy]], [[lead]] and other [[heavy metals]], [[iodine deficiency]], [[brain infections]], [[congenital rubella syndrome]], and [[cytomegalovirus infections]], as well as [[hypoxic-ischemic injury]], and [[periventricular hemorrhages]] all cause [[brain injury]] resulting in [[disability]]. {{cite web |url=http://www.diva-portal.org/smash/record.jsf?pid=diva2%3A163146&dswid=-7424 |title=Intellectual Disability and Mental Health Problems : Evaluation of Two Clinical Assessment Instruments, Occurrence of Mental Health Problems and Psychiatric Care Utilisation |format= |work= |accessdate=}}
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| ==[[Mental retardation differential diagnosis|Differentiating Mental retardation from other Diseases]]== | | ==[[Mental retardation differential diagnosis|Differentiating Mental retardation from other Diseases]]== |
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| #[[Neurocognitive disorders]] – there is loss of [[cognitive]] functioning in these cases.
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| #[[Specific learning disorder]] and [[language disorders]] – compared to individuals with ID, these individuals have [[deficits]] in [[communication]] and [[learning]] aspects but with [[normal]] [[intellect]] and [[adaptive]] [[function]].
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| #[[Autism spectrum disorder]] – [[social development]] and [[language]] [[deficits]] are the [[hallmark]] of [[autism]] spectrum patients and have [[normal]] [[motor]] [[development]].
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| Possible hearing and visual impairments should be ruled out in diagnosing intellectual disability. <ref name="PatelApple2018">{{cite journal|last1=Patel|first1=Dilip R.|last2=Apple|first2=Roger|last3=Kanungo|first3=Shibani|last4=Akkal|first4=Ashley|title=Intellectual disability: definitions, evaluation and principles of treatment|journal=Pediatric Medicine|volume=1|year=2018|pages=11–11|issn=26175428|doi=10.21037/pm.2018.12.02}}</ref> <ref>{{cite journal|title=Neurodevelopmental Disorders|year=2013|doi=10.1176/appi.books.9780890425596.dsm01}}</ref>
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| ==[[Mental retardation epidemiology and demographics|Epidemiology and Demographics]]== | | ==[[Mental retardation epidemiology and demographics|Epidemiology and Demographics]]== |
| The [[prevalence]] is 1% in the general [[population]], with 6 per 1000 persons having a [[severe]] [[mental disability]]. In the United States, individuals with a [[severe]] [[intellectual disability]] are at 0.3-0.5%, while worldwide [[prevalence]] is at 16.41 per 1000 people in [[developing countries]] and 9.21 per 1000 people in [[developed countries]]. [[Males]] are more likely to have a [[mental disability]] with a ratio of 2:1, and [[families]] with one child with [[severe]] [[mental disability]] have a [[recurrence risk]] of 3% and 9%. <ref>{{cite journal|title=Neurodevelopmental Disorders|year=2013|doi=10.1176/appi.books.9780890425596.dsm01}}</ref> <ref name="MaulikMascarenhas2011">{{cite journal|last1=Maulik|first1=Pallab K.|last2=Mascarenhas|first2=Maya N.|last3=Mathers|first3=Colin D.|last4=Dua|first4=Tarun|last5=Saxena|first5=Shekhar|title=Prevalence of intellectual disability: A meta-analysis of population-based studies|journal=Research in Developmental Disabilities|volume=32|issue=2|year=2011|pages=419–436|issn=08914222|doi=10.1016/j.ridd.2010.12.018}}</ref>
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| ==[[Mental retardation risk factors|Risk Factors]]== | | ==[[Mental retardation risk factors|Risk Factors]]== |
| [[Prenatal]] causes <ref>{{cite journal|title=Neurodevelopmental Disorders|year=2013|doi=10.1176/appi.books.9780890425596.dsm01}}</ref>
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| #[[Genetic]] [[syndromes]]
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| #[[Inborn errors of metabolism]]
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| #[[Brain malformations]]
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| #[[Maternal disease]]
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| #[[Environmental]] factors such as the [[history]] of [[alcoholism]], [[teratogens]], and other [[drugs]]
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| [[Perinatal]] [[causes]] include events during [[labor]] and [[delivery]] that ultimately lead to [[ischemic injury]] to [[neonates']] [[brains]]. <ref>{{cite journal|title=Neurodevelopmental Disorders|year=2013|doi=10.1176/appi.books.9780890425596.dsm01}}</ref>
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| [[Postnatal]] causes <ref>{{cite journal|title=Neurodevelopmental Disorders|year=2013|doi=10.1176/appi.books.9780890425596.dsm01}}</ref>
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| #[[Hypoxic-ischemic injury]]
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| #[[Traumatic brain injury]]
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| #[[Infections]]
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| #[[Demyelinating]] [[disorders]]
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| #[[Infantile spasms]]
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| #[[Severe]] and [[chronic social deprivation]]
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| #[[Heavy metal poisoning]]
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| #[[Toxic metabolic syndromes]]
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| ==[[Mental retardation screening|Screening]]== | | ==[[Mental retardation screening|Screening]]== |
| Evaluation is dependent on [[age]] at [[onset]], the [[severity]] of [[signs]] and [[symptoms]], and the need to determine the underlying [[etiology]] of ID. A [[comprehensive ]] [[screening]] includes [[clinical assessment]] paying particular attention to [[prenatal]] and [[perinatal]] history and [[family pedigree]], [[psychological testing]], [[karyotyping]] and [[metabolic]] [[screening]], as well as [[neuroimaging]] tests. <ref>{{cite journal|title=Neurodevelopmental Disorders|year=2013|doi=10.1176/appi.books.9780890425596.dsm01}}</ref> {{cite web |url=https://www.aaidd.org/docs/default-source/default-document-library/idd-d-20-00058_r28c0757ae9e8c6329b425ff0000b6faa6.pdf?sfvrsn=e78b3421_0 |title=www.aaidd.org |format= |work= |accessdate=}}
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| <ref name="MoeschlerShevell2014">{{cite journal|last1=Moeschler|first1=J. B.|last2=Shevell|first2=M.|title=Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays|journal=PEDIATRICS|volume=134|issue=3|year=2014|pages=e903–e918|issn=0031-4005|doi=10.1542/peds.2014-1839}}</ref>
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| ===Intelligence assessment===
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| [[Intelligence Quotient]] [[(IQ)]] is the standard for estimating [[intellectual function]]. [[Standardized]] [[tools]] such as the [[Wechsler scale]] is administered to children 6-16 years old, while a brief [[]assessment tool]] such as the [[Kauffman Brief Intelligence Test]] is an alternative if the [[Wechsler test]] is not possible. The mean value of [[IQ]] is 100, and 70-75 represents the upper limit of two [[standard deviations]] below the [[mean]]. Several factors may [[influence]] [[intelligence assessment]], and this includes [[measurement error]], [[Flynn effect]], [[practice effects]], [[outliers]], and [[test]] [[selection]], to name a few. <ref name="MoeschlerShevell2014">{{cite journal|last1=Moeschler|first1=J. B.|last2=Shevell|first2=M.|title=Comprehensive Evaluation of the Child With Intellectual Disability or Global Developmental Delays|journal=PEDIATRICS|volume=134|issue=3|year=2014|pages=e903–e918|issn=0031-4005|doi=10.1542/peds.2014-1839}}</ref> <ref>{{cite journal|title=Neurodevelopmental Disorders|year=2013|doi=10.1176/appi.books.9780890425596.dsm01}}</ref>
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| ===Adaptive function assessment===
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| The [[Vineland Adaptive Behavior Scale]] evaluates [[communication]], ability to perform [[activities of daily living (ADL)]], [[motor]] and [[socialization]]. Another [[assessment tool]] is [[AAIDD's Diagnostic Adaptive Behavior Scale (DABS)]], administered to individuals 4-21 years old. This tool focuses on the "cut-off" area for ruling in a diagnosis of ID to determine eligibility for [[special education]] services, [[social security]] [[benefits]], and [[home]] and [[community-based]] [[waiver services]]. <ref name="NavasZhang2016">{{cite journal|last1=Navas|first1=Patricia|last2=Zhang|first2=Dalun|last3=Widaman|first3=Keith F.|last4=Spreat|first4=Scott|last5=Borthwick-Duffy|first5=Sharon A.|last6=Bersani|first6=Henry (Hank)|last7=Balboni|first7=Giulia|last8=Thissen|first8=David|last9=Schalock|first9=Robert L.|last10=Tassé|first10=Marc J.|title=Development and Standardization of the Diagnostic Adaptive Behavior Scale: Application of Item Response Theory to the Assessment of Adaptive Behavior|journal=American Journal on Intellectual and Developmental Disabilities|volume=121|issue=2|year=2016|pages=79–94|issn=1944-7558|doi=10.1352/1944-7558-121.2.79}}</ref> <ref name="ZhangWidaman2012">{{cite journal|last1=Zhang|first1=Dalun|last2=Widaman|first2=Keith F|last3=Thissen|first3=David|last4=Spreat|first4=Scott|last5=Borthwick-Duffy|first5=Sharon A|last6=Bersani|first6=Hank|last7=Balboni|first7=Giulia|last8=Schalock|first8=Robert L|last9=Tassé|first9=Marc J|title=The Construct of Adaptive Behavior: Its Conceptualization, Measurement, and Use in the Field of Intellectual Disability|journal=American Journal on Intellectual and Developmental Disabilities|volume=117|issue=4|year=2012|pages=291–303|issn=1944-7558|doi=10.1352/1944-7558-117.4.291}}</ref>
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| ===Genetic and Metabolic Testing===
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| [[Newborn screening]] programs [[screen]] for [[inborn errors of metabolism]] with a yield of < 1%, and [[chromosomal analysis]] is required in children with unknown causes of ID with a yield of 12%. While [[genetic]] tests help discern the [[prognosis]] and [[treatment plan]], it should be taken into account that these are expensive, and the findings may not reflect the [[phenotype]] of an individual. <ref name="PatelApple2018">{{cite journal|last1=Patel|first1=Dilip R.|last2=Apple|first2=Roger|last3=Kanungo|first3=Shibani|last4=Akkal|first4=Ashley|title=Intellectual disability: definitions, evaluation and principles of treatment|journal=Pediatric Medicine|volume=1|year=2018|pages=11–11|issn=26175428|doi=10.21037/pm.2018.12.02}}</ref>
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| ==[[Mental retardation natural history, complications and prognosis|Natural History, Complications and Prognosis]]== | | ==[[Mental retardation natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| ID often is accompanied by other [[mental]], [[medical]], and [[physical]] conditions like [[epilepsy]] and [[cerebral palsy]]. The most common [[comorbid]] [[conditions]] are [[attention deficit hyperactivity disorder]] [[(ADHD]], [[depression]], [[bipolar disorder]], [[anxiety disorder]], [[autism spectrum disorder]], and [[stereotypical]] [[movement]] disorder. <ref>{{cite journal|title=Neurodevelopmental Disorders|year=2013|doi=10.1176/appi.books.9780890425596.dsm01}}</ref>
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| People with mild to moderate ID are able to live independently and be successful at jobs requiring simple tasks while people with severe ID will require lifetime support.{{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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| ==Diagnosis== | | ==Diagnosis== |
| [[Mental retardation diagnostic study of choice|Diagnostic study of choice]] | [[Mental retardation history and symptoms|History and Symptoms]] | [[Mental retardation physical examination|Physical Examination]] | [[Mental retardation laboratory findings|Laboratory Findings]] | [[Mental retardation electrocardiogram|Electrocardiogram]] | [[Mental retardation x ray|X-Ray Findings]] | [[Mental retardation echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Mental retardation CT scan|CT-Scan Findings]] | [[Mental retardation MRI|MRI Findings]] | [[Mental retardation other imaging findings|Other Imaging Findings]] | [[Mental retardation other diagnostic studies|Other Diagnostic Studies]] | | [[Mental retardation diagnostic study of choice|Diagnostic study of choice]] | [[Mental retardation history and symptoms|History and Symptoms]] | [[Mental retardation physical examination|Physical Examination]] | [[Mental retardation laboratory findings|Laboratory Findings]] | [[Mental retardation electrocardiogram|Electrocardiogram]] | [[Mental retardation x ray|X-Ray Findings]] | [[Mental retardation echocardiography and ultrasound|Echocardiography and Ultrasound]] | [[Mental retardation CT scan|CT-Scan Findings]] | [[Mental retardation MRI|MRI Findings]] | [[Mental retardation other imaging findings|Other Imaging Findings]] | [[Mental retardation other diagnostic studies|Other Diagnostic Studies]] |
| ===Mental Retardation Diagnostic Study of Choice===
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| There is no specific study to diagnose intellectual disability. The [[DSM 5]] Diagnostic Criteria specifies that all of the three criteria must be satisfied: <ref>{{cite journal|title=Neurodevelopmental Disorders|year=2013|doi=10.1176/appi.books.9780890425596.dsm01}}</ref>
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| #Individuals have difficulty in [[executive functioning]], [[academic]] [[learning]], and [[experiential]] [[learning]] confirmed by [[standard]] [[assessment tools]] and [[clinically]].
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| #[[Social communication]] [[skills]] are challenging and [[practical skills]] that impair independence (performing [[activities of daily living]]) and [[interaction]] with other people.
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| #It happens during the [[developmental period]].
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| The classification of ID must also be specified.
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| ===History and Symptoms===
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| ====History====
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| History should focus on the [[birth]] and [[developmental]] history of the child. This would include the [[chief complaints]] arranged in [[chronological]] order and a comprehensive [[prenatal]] and [[perinatal]] history.
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| [[Developmental]] history in the following domains should be evaluated: [[motor]], [[language]], [[communication]] and [[ability]] for [[self-care]]; [[socioeconomic]], [[cognition]] and [[occupational]]/[[recreational]] activities. [[Medical]] [[comorbidities]] and [[psychiatric]] history must also be obtained as well as a comprehensive [[family history]] including a [[pedigree]] construction, background, and current living conditions. {{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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| ====Symptoms====
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| Hallmark [[symptoms]] of intellectual disability: {{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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| #Delayed [[learning]] of new [[knowledge]] and [[skills]]
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| #Immature [[social skills]]
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| #Limited self-care skills
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| [[Behavioral]] problems also occur in these patients and they are usually precipitated by different factors such as:
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| #Improper [[training]] in what is a [[socially]] acceptable [[behavior]]
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| #Inconsistent [[discipline]]
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| #Reinforcement of [[maladaptive]] [[behavior]]
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| #Impaired [[communication skills]]
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| #Co-existing [[physical]] and [[mental disorders]] such as [[anxiety]] and [[depression]].
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| Symptoms that may point to a [[genetic]] [[metabolic]] disorder include [[failure to thrive]], [[lethargy]], [[vomiting]], [[seizures]], [[hypotonia]], [[hepatomegaly]], [[coarse facies]], [[macroglossia]]. On the other hand, the [[comorbid]] [[neuromuscular]] disease may be suspected in patients with [[developmental delays]] in [[gross motor]] skills, [[fine motor]] skills such as [[pincer]] [[grasp]]. {{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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| ===Physical Examination===
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| A detailed physical examination has three parts: {{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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| # [[Anthropometry]] – provides an estimate of the [[nutrition]], any underlying [[medical]] or [[genetic]] condition. Assessment includes: [[height]], [[arm span]], sitting [[height]], [[weight]], [[head circumference]], [[chest]] circumference, [[abdominal]] circumference, [[intercanthal]] and [[interpupillary]] distances, and [[palm]] and [[foot]] lengths.
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| # [[Dysmorphology]] [[examination]] – this documents [[birth defects]] by conducting a [[head-to-toe]] examination to look for minor physical anomalies that could shed light on the [[etiology]] of ID.
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| # Examination of major [[organ systems]]- this could provide clues toward a [[disorder]] involving [[inborn error of metabolism]]. [[Assessment]] should include [[vision]], [[hearing]], and [[gait]]. Patients are referred to [[geneticists]] for further evaluation in case of a [[minor physical anomaly]].
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| #[[Behavioral]] observation – this is to correlate the [[clinical history]] and [[intellectual]] and [[behavioral]] [[abilities]]. It starts with observing [[general appearance]], any oddities in [[behavior]], [[attention span]], [[receptive]] and [[expressive]] [[speech]], [[social skills]].
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| *'''[[HEENT]]'''
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| **[[Scalp]] [[hair]]: sparse, light-colored, double [[whorl]] on the [[scalp]], easily breakable
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| **[[Skull]] shape: [[brachycephaly]], [[scaphocephaly]], [[trigonocephaly]], [[oxycephaly]], [[plagiocephaly]]
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| **[[Facial]] appearance: [[coarse facies]], elongated, triangular, small
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| **[[Eyes]]: deeply set, prominent, [[microphthalmia]], [[upslanting]]/[[downslanting]] [[palpebral]] [[fissures]], [[hypertelorism]], [[strabismus]], [[ptosis]], bushy [[eyebrows]], [[synopharys]], [[microcornea]], [[corneal]] [[clouding]], [[cataracts]], [[coloboma]] of the [[iris]], [[blue sclera]], [[telangiectasia]]
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| **[[Ears]]: low set, small, large, [[malformed]], posteriorly rotated, [[anteverted]], [[periauricular tags]], [[pits]], cup shape
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| **[[Nose]]: depressed [[nasal bridge]], short and stubby, beak-shaped, bulbous tip, flaring, hypoplastic [[nostrils]]
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| **[[Palate]]: [[high-arched]], ridged, [[cleft]], [[bifid]] [[uvula]]
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| **[[Chin]]: prominent, [[retrognathia]], [[micrognathia]]
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|
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| *'''[[Chest]]:''' [[pectus excavatum]], [[pectus carinatum]], [[nipple]] [[anomalies]], [[gynecomastia]]
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| *'''[[Abdomen]]:''' [[Protuberant]], [[scaphoid]], [[umbilical]] [[hernia]], [[hepatosplenomegaly]], [[inguinal]] [[hernia]]
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| *''' [[Genitourinary]]:''' [[micropenis]], [[micro-orchidism]] or [[macro-orchidism]], undescended [[testis]], [[ambiguous genitalia]], [[hypospadias]], absent [[secondary sexual characteristics]], [[shawl]] [[scrotum]]
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| *'''[[Neuromuscular]]:''' [[kyphosis]], [[scoliosis]], [[spina bifida]]
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| *'''[[Extremities]]'''
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| **[[Hands]]: broad, shorthands, [[simian crease]], [[Sidney line]], spade-shaped
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| **[[Fingers]]: [[clinodactyly]], [[brachydactyly]], [[syndactyly]], [[camptodactyly]], [[arachnodactyly]], [[polydactyly]]
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| **[[Feet]]: [[Pes planus]], [[pes cavus]], [[valgus]]/[[varus]], broad [[hallux]], increased distance between 1st and 2nd [[toes]]
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| *'''[[Skeletal]]''': [[exostoses]], increase carrying angles, [[joint hypermobility]]
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| ===Laboratory Findings===
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| 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.
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|
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| ====Electrocardiogram====
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| There are no [[EKG]] findings associated with intellectual disabilities.
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|
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| ====Echocardiography and Ultrasound====
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| [[Echocardiography]] may reveal [[heart]] [[malformations]] and [[ultrasound]] may reveal the presence of a single [[kidney]]. {{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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| ==Treatment== | | ==Treatment== |
| [[Mental retardation medical therapy|Medical Therapy]] | [[Mental retardation interventions|Interventions]] | [[Mental retardation surgery|Surgery]] | [[Mental retardation primary prevention|Primary Prevention]] | [[Mental retardation secondary prevention|Secondary Prevention]] | [[Mental retardation cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Mental retardation future or investigational therapies|Future or Investigational Therapies]] | | [[Mental retardation medical therapy|Medical Therapy]] | [[Mental retardation interventions|Interventions]] | [[Mental retardation surgery|Surgery]] | [[Mental retardation primary prevention|Primary Prevention]] | [[Mental retardation secondary prevention|Secondary Prevention]] | [[Mental retardation cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Mental retardation future or investigational therapies|Future or Investigational Therapies]] |
| ===Medical Therapy===
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| Medical intervention for identified causes of intellectual disability should be instituted. {{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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| *'''Replacement of deficient molecules'''
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| **[[Thyroxine]] supplementation for [[congenital hypothyroidism]]
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| **[[Enzyme]] [[replacement]] therapy
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| **[[Copper]] [[histidine]] for [[Menkes disease]]
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| *'''Small [[molecule]] therapy'''
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| **[[Pyridoxine]], [[Vitamin B12]], and [[folate]] for [[homocystinuria]]
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| **Low [[phenylalanine]] diet for [[phenylketonuria]]
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| *'''[[Vigabatrin]] for [[tuberous sclerosis]]'''
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| *'''[[Chelation]] in cases of [[Wilson disease]]'''
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|
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| ===Interventions===
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| Treatment should address the underlying cause of ID, treatment of [[comorbid]] [[physical]] disorders that may further [[impair]] functioning, such as [[pharmacologic]] treatment for [[behavioral disorders]] in [[Fragile X]] patients, and institution of [[special education]], [[rehabilitation]], and [[psychosocial]] [[interventions]]. <ref name="HagermanPolussa2015">{{cite journal|last1=Hagerman|first1=Randi J.|last2=Polussa|first2=Jonathan|title=Treatment of the psychiatric problems associated with fragile X syndrome|journal=Current Opinion in Psychiatry|volume=28|issue=2|year=2015|pages=107–112|issn=0951-7367|doi=10.1097/YCO.0000000000000131}}</ref> {{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK332877/ |title=Clinical Characteristics of Intellectual Disabilities - Mental Disorders and Disabilities Among Low-Income Children - NCBI Bookshelf |format= |work= |accessdate=}}
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|
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| ===Surgery===
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| There are no surgical interventions for intellectual disability.
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|
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| ===Primary Prevention===
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| *'''[[Vaccines]]''' prevent [[infectious]] causes of ID such as [[congenital rubella syndrome]], [[pneumococcal]], and [[H. influenzae]] [[meningitis]]. {{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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| *'''Avoiding [[alcohol]]''' during [[pregnancy]] prevents [[fetal alcohol 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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| *'''[[Folate]] supplementation at 400-800 mcg/day''' in women three months before [[conception]] through the [[first trimester]] reduces the risk for [[neural tube defects]]. {{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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|
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| ===Secondary Prevention===
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| Referral to an early [[intervention]] program as soon as the diagnosis of ID is a must. A [[multidisciplinary team]] consisting of [[neurologists]], developmental-behavioral [[pediatricians]], [[orthopedists]], [[physical]] and [[occupational therapists]], [[speech pathologists]] and [[audiologists]], [[nutritionists]], [[social workers]], and [[psychologists]] are involved in the patient’s care. {{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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|
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| ==Case Studies== | | ==Case Studies== |
| [[Mental retardation case study one|Case #1]] | | [[Mental retardation case study one|Case #1]] |
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| ==References== | | ==References== |
| {{Reflist}} | | {{Reflist}} |