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| '''For patient information click [[Intellectual disability (patient information)|here]]''' | | '''For patient information click [[Intellectual disability (patient information)|here]]''' |
| {{Intellectual Disability}} | | {{Mental retardation}} |
| {{CMG}}; {{AE}}{{Chelsea}} {{KS}} | | {{CMG}}; {{AE}}{{Chelsea}} {{KS}} |
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| {{SK}} General learning disability; mental retardation; unspecified intellectual disability | | {{SK}} General learning disability; intellectual disability; unspecified intellectual disability |
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| == [[Intellectual Disability overview|Overview]] ==
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| 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]] ==
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| 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 Age, 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.
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| == [[Intellectual Disability classification|Classification]] ==
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| 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.
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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 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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| == [[Intellectual Disability pathophysiology|Pathophysiology]] ==
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| 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 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.
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| == [[Mental retardation causes|Causes]] ==
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| In less than 50% of individuals with mild ID, a specific cause is identified, and it increases to 75% in those with severe ID.
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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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| ===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.
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| == [[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.
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| == [[Intellectual Disability epidemiology and demographics|Epidemiology and Demographics]] ==
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| 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%.
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| == [[Mental retardation risk factors|Risk Factors]] ==
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| Prenatal causes
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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.
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| Postnatal causes
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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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| == [[Intellectual Disability screening|Screening]] ==
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| 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.
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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.
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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.
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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.
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| == [[Intellectual Disability natural history, complications and prognosis|Natural History, Complications and Prognosis]] ==
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| 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, depression, bipolar disorder, anxiety disorder, autism spectrum disorder, and stereotypical movement disorder.
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| | ==[[Mental retardation overview|Overview]]== |
| | ==[[Mental retardation historical perspective|Historical Perspective]]== |
| | ==[[Mental retardation classification|Classification]]== |
| | ==[[Mental retardation pathophysiology|Pathophysiology]]== |
| | ==[[Mental retardation causes|Causes]]== |
| | ==[[Mental retardation differential diagnosis|Differentiating Mental retardation from other Diseases]]== |
| | ==[[Mental retardation epidemiology and demographics|Epidemiology and Demographics]]== |
| | ==[[Mental retardation risk factors|Risk Factors]]== |
| | ==[[Mental retardation screening|Screening]]== |
| | ==[[Mental retardation natural history, complications and prognosis|Natural History, Complications and Prognosis]]== |
| ==Diagnosis== | | ==Diagnosis== |
| The DSM 5 Diagnostic Criteria specifies that all of the three criteria must be satisfied:
| | [[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]] |
| #Individuals have difficulty in executive functioning, academic learning, and experiential learning confirmed by standard assessment tools and clinically.
| | ==Treatment== |
| #Social communication skills are challenging and practical skills that impair independence (performing activities of daily living) and interaction with other people.
| | [[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]] |
| #It happens during the developmental period. | | ==Case Studies== |
| The classification of ID must also be specified.
| | [[Mental retardation case study one|Case #1]] |
| | | ==References== |
| | {{Reflist}} |
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| == Treatment ==
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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.
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| [[Category:Psychiatry]] | | [[Category:Psychiatry]] |
| [[Category:Disability]] | | [[Category:Disability]] |