Mental retardation

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Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Mental retardation from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
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Echocardiography and Ultrasound
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Case #1
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Chelsea Mae Nobleza, M.D.[2] Kiran Singh, M.D. [3]

Synonyms and keywords: General learning disability; intellectual disability; unspecified intellectual disability

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.

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. 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.

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.

Classification of Intellectual Disability

Severity Level	Conceptual Skills	Social Skills	Practical Skills
Mild	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.
Moderate	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.
Severe	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 ADL is needed as they may also have motor comorbidities.
Profound	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.

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. Recent progress in unraveling the pathophysiology of ID involves defects in synaptogenesis and synaptic activities, including neuroplasticity. 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.

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.

Genetics

Down syndrome (Trisomy 21) is the most common genetic cause of ID, while Fragile X is the most common inherited cause of ID.

Environmental Factors

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. "Intellectual Disability and Mental Health Problems : Evaluation of Two Clinical Assessment Instruments, Occurrence of Mental Health Problems and Psychiatric Care Utilisation".

Differentiating Mental retardation from other Diseases

1. Neurocognitive disorders – there is loss of cognitive functioning in these cases.
2. 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.
3. Autism spectrum disorder – social development and language deficits are the hallmark of autism spectrum patients and have normal motor development.

Possible hearing and visual impairments should be ruled out in diagnosing intellectual disability.

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%.

Risk Factors

Prenatal causes

1. Genetic syndromes
2. Inborn errors of metabolism
3. Brain malformations
4. Maternal disease
5. Environmental factors such as the history of alcoholism, teratogens, and other drugs

Perinatal causes include events during labor and delivery that ultimately lead to ischemic injury to neonates' brains.

Postnatal causes

1. Hypoxic-ischemic injury
2. Traumatic brain injury
3. Infections
4. Demyelinating disorders
5. Infantile spasms
6. Severe and chronic social deprivation
7. Heavy metal poisoning
8. Toxic metabolic syndromes

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. "www.aaidd.org" (PDF).

Intelligence assessment

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.

Adaptive function assessment

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.

Genetic and Metabolic Testing

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.

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.

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."Intellectual Disability - Pediatrics - MSD Manual Professional Edition".

Diagnosis

Diagnostic study of choice | History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X-Ray Findings | Echocardiography and Ultrasound | CT-Scan Findings | MRI Findings | Other Imaging Findings | Other Diagnostic Studies

Mental Retardation Diagnostic Study of Choice

There is no specific study to diagnose intellectual disability. The DSM 5 Diagnostic Criteria specifies that all of the three criteria must be satisfied:

1. Individuals have difficulty in executive functioning, academic learning, and experiential learning confirmed by standard assessment tools and clinically.
2. Social communication skills are challenging and practical skills that impair independence (performing activities of daily living) and interaction with other people.
3. It happens during the developmental period.

The classification of ID must also be specified.

History and Symptoms

History

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. 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. 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.

Symptoms

Hallmark symptoms of intellectual disability: "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".

1. Delayed learning of new knowledge and skills
2. Immature social skills
3. Limited self-care skills

Behavioral problems also occur in these patients and they are usually precipitated by different factors such as:

1. Improper training in what is a socially acceptable behavior
2. Inconsistent discipline
3. Reinforcement of maladaptive behavior
4. Impaired communication skills
5. Co-existing physical and mental disorders such as anxiety and depression.

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. "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".

Physical Examination

A detailed physical examination has three parts: 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.

1. 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.
2. 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.
3. 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.
4. 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.

• HEENT
  • Scalp hair: sparse, light-colored, double whorl on the scalp, easily breakable
  • Skull shape: brachycephaly, scaphocephaly, trigonocephaly, oxycephaly, plagiocephaly
  • Facial appearance: coarse facies, elongated, triangular, small
  • 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
  • Ears: low set, small, large, malformed, posteriorly rotated, anteverted, periauricular tags, pits, cup shape
  • Nose: depressed nasal bridge, short and stubby, beak-shaped, bulbous tip, flaring, hypoplastic nostrils
  • Palate: high-arched, ridged, cleft, bifid uvula
  • Chin: prominent, retrognathia, micrognathia

• Chest: pectus excavatum, pectus carinatum, nipple anomalies, gynecomastia
• Abdomen: Protuberant, scaphoid, umbilical hernia, hepatosplenomegaly, inguinal hernia
• Genitourinary: micropenis, micro-orchidism or macro-orchidism, undescended testis, ambiguous genitalia, hypospadias, absent secondary sexual characteristics, shawl scrotum
• Neuromuscular: kyphosis, scoliosis, spina bifida
• Extremities
  • Hands: broad, shorthands, simian crease, Sidney line, spade-shaped
  • Fingers: clinodactyly, brachydactyly, syndactyly, camptodactyly, arachnodactyly, polydactyly
  • Feet: Pes planus, pes cavus, valgus/varus, broad hallux, increased distance between 1st and 2nd toes
• Skeletal: exostoses, increase carrying angles, joint hypermobility

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.

Electrocardiogram

There are no EKG findings associated with intellectual disabilities.

Echocardiography and Ultrasound

Echocardiography may reveal heart malformations and ultrasound may reveal the presence of a single kidney. 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.

CT-Scan Findings

Cranial MRI is the imaging of choice in obtaining clues to the etiology of ID.

MRI Findings

Cranial MRI can show central nervous system malformations such as in tuberous sclerosis and neurofibromatosis, hydrocephalus, or schizencephaly. 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.

Other Imaging Findings

There are no other imaging findings associated with intellectual disabilities.

Other Diagnostic Studies

• Chromosomal microarray analysis to look for copy number variants seen in Cri du chat syndrome or DiGeorge syndrome. "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Karyotyping to rule out Down Syndrome (trisomy 21) "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Direct DNA studies for ruling out Fragile X syndrome "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• HIV test in high-risk infants "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Urine and serum amino acid and organic acid analysis "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Enzyme studies for storage diseases or peroxisomal disorders "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Muscle enzymes "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Electroencephalography (EEG) for patients with seizures "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• TORCH screening "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".

Treatment

Medical Therapy | Interventions | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Medical Therapy

Medical intervention for identified causes of intellectual disability should be instituted. 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.

• Replacement of deficient molecules
  • Thyroxine supplementation for congenital hypothyroidism
  • Enzyme replacement therapy
  • Copper histidine for Menkes disease
• Small molecule therapy
  • Pyridoxine, Vitamin B12, and folate for homocystinuria
  • Low phenylalanine diet for phenylketonuria
• Vigabatrin for tuberous sclerosis
• Chelation in cases of Wilson disease

Interventions

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. "Clinical Characteristics of Intellectual Disabilities - Mental Disorders and Disabilities Among Low-Income Children - NCBI Bookshelf".

Surgery

There are no surgical interventions for intellectual disability.

Primary Prevention

• Vaccines prevent infectious causes of ID such as congenital rubella syndrome, pneumococcal, and H. influenzae meningitis. "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Avoiding alcohol during pregnancy prevents fetal alcohol syndrome. "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".
• Folate supplementation at 400-800 mcg/day in women three months before conception through the first trimester reduces the risk for neural tube defects. "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".

Secondary Prevention

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. "Intellectual Disability - Pediatrics - MSD Manual Professional Edition".

Case Studies

Case #1