Intellectual Disability

Defining Intellectual Disability

What is Intellectual Disability?

● Formerly known as Mental Retardation.

● AAIDD Definition: A disability characterized by significant limitations in both:
1. Intellectual Functioning: Reasoning, learning, problem-solving.
2. Adaptive Behavior: Conceptual, social, and practical skills.
● Onset: Must emerge before the age of 18.
● International Consensus: Assessment requires evaluating both Intelligence Quotient (IQ)
and social adaptation to determine the level of disability.
Intellectual vs. Adaptive Functioning

● Measures of Intellectual Function (IQ):

○ Focus on cognitive abilities.
○ Examples: reasoning, problem-solving, learning capacity.
● Measures of Adaptive Function:
○ Assess competency in real-world skills.
○ Conceptual Skills: Academic skills.
○ Social Skills: Understanding societal norms, relationships.
○ Practical Skills: Performance of everyday tasks, personal hygiene.
● Key Insight: While often correlated, individuals with the same IQ can have different levels of
adaptive functioning.
The DSM-5 Approach:

Emphasis on Adaptive Functioning

● The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) determines
the severity of intellectual disability based on adaptive functioning, not IQ scores.
● Rationale for the Shift:
○ Determines Support Needs: Adaptive functioning is a better predictor of the level of
support an individual requires.
○ Validity of IQ Scores: IQ scores are less valid and reliable in the lower end of the IQ
range.
● Assessment Domains in DSM-5:
○ Conceptual Domain: Academic skills (memory, language, reading, writing, math, etc.).
○ Social Domain: Interpersonal skills, social judgment, empathy, communication.
○ Practical Domain: Personal care, job responsibilities, money management, recreation.
Historical Perspective
● Mid-1800s: Residential Education
○ Belief: Intensive training could "cure" the disability and allow a return to society.
○ Reality: This expectation was not met.
● Early to Mid-1900s: The Rise of Custodial Care
○ Residential programs grew in size.
○ Focus shifted from education to custodial care.
○ Conditions became crowded, unsanitary, and sometimes abusive.
● Mid-1900s Onward: Deinstitutionalization
○ Sparked by public awareness of poor conditions.
○ Driven by the philosophies of "Normalization" (providing living situations as close to
normal as possible) and "Inclusion" (integrating into mainstream educational settings).
The AAIDD's Modern Framework - American Association on Intellectual and Developmental Disability

The AAIDD's Modern Framework

A Functional and Environmental View

● The AAIDD promotes a view of intellectual disability as a functional interaction between an individual
and their environment, not a static trait.
● This framework focuses on identifying the necessary "environmental supports" across various adaptive
domains.
● Levels of Support:
○ Intermittent
○ Limited
○ Extensive
○ Pervasive
● Domains Requiring Support: Communication, self-care, home living, social skills, community resource
use, self-direction, functional academics, work, leisure, health, and safety.
Nomenclature and Diagnosis (DSM-5)

Criteria for Diagnosis - REFER - DSM 5 TR

CLASSIFICATION -
○ Significantly subaverage general intellectual functioning (IQ of ~70 or below).
○ Concurrent impairment in adaptive behavior.
○ Manifested before the age of 18.
● The diagnosis is made independently of any coexisting physical or mental disorders.
● Standardized Assessment Tools:
○ Intelligence: Wechsler Intelligence Scale for Children (WISC), Stanford-Binet.
○ Adaptive Functioning: Vineland Adaptive Behavior Scale (scores communication, daily
living skills, socialization, and motor skills).
Degrees of Severity:

Mild Intellectual Disability

● Prevalence: ~85% of individuals with intellectual disability.

● Typical IQ Range: 50 to 70.
● Identification: Often not identified until first or second grade due to increasing academic
demands.
● Academic Skills: Can often achieve skills up to a sixth-grade level by late adolescence.
● Adult Life: Many can live independently with appropriate support, hold jobs, and raise
families.
● Etiology: Specific causes are often unidentified in this group; subtle environmental and
developmental factors may contribute.
Degrees of Severity:

Moderate Intellectual Disability

● Prevalence: ~10% of individuals with intellectual disability.

● Typical IQ Range: 35 to 50.
● Development: Acquire language and communication skills in early childhood.
● Academic Skills: Challenged academically, often not achieving beyond a second to
third-grade level.
● Social Skills: Socialization difficulties can become more pronounced during adolescence.
● Adult Life: Can perform semi-skilled work under supervision and benefit greatly from social
and vocational support.
Degrees of Severity:

Severe Intellectual Disability

● Prevalence: ~3-4% of individuals with intellectual disability.

● Typical IQ Range: 20 to 35.
● Development: May develop basic communication skills in childhood. Can often learn to
count and recognize functional words.
● Etiology: A specific cause (often genetic or biological) is more likely to be identified.
● Adult Life: Can adapt well to supervised living situations (e.g., group homes) and may
perform simple work-related tasks under close supervision.
Degrees of Severity:

Profound Intellectual Disability

● Prevalence: ~1-2% of individuals with intellectual disability.

● Typical IQ Range: Below 20.
● Etiology: Most individuals have an identifiable neurological cause for their condition.
● Development: With appropriate training, may be taught some basic self-care skills and learn
to communicate their fundamental needs.
● Support: Require pervasive support and care throughout their lives.
Other Diagnostic Considerations

● Unspecified Intellectual Disability (Intellectual Developmental Disorder):

○ A DSM-5 diagnosis reserved for individuals over the age of 5 who are difficult to
evaluate but are strongly suspected of having an intellectual disability.
○ Used when sensory or physical impairments (e.g., blindness, deafness) or co-occurring
mental disorders make standard assessments impossible.
○ "Borderline Intellectual Functioning":
■ Previously used for IQs in the 70-80 range.
■ No longer a formal diagnosis in DSM-5 TR but can be noted as a condition for
clinical attention.
Epidemiology

Prevalence and Incidence

● Prevalence in Western Societies: Estimated at 1% to 3% of the population.

● Prevalence in Developing Countries: Population-based estimates range from 10 to 15 per
1,000 children.
● Incidence: Difficult to calculate accurately because mild cases may go unrecognized until
school age.
● Peak Age of Identification: Highest incidence is reported in school-age children, peaking at
ages 10 to 14.
● Gender: Approximately 1.5 times more common in males than in females.
Comorbidity: An Overview

The High Rate of Co-occurring Disorders

● Up to two-thirds of individuals with intellectual disability have a comorbid psychiatric

disorder.
● This rate is several times higher than in the general population.
● Correlation with Severity: The risk for coexisting psychiatric disorders increases with the
severity of the intellectual disability.
○ Mild ID: More frequent disruptive and conduct-disorder behaviors.
○ Severe ID: More likely to meet criteria for Autism Spectrum Disorder, and exhibit
self-stimulation/mutilation.
○ Profound ID: Less likely to exhibit comorbid psychiatric disorders.
● Comorbidity is not correlated with age or gender
Common Comorbid Psychiatric Disorders

● Mood Disorders: Up to 50% of individuals with ID may meet criteria for a mood disorder.
(Note: Assessment tools are not always standardized for this population).
● Schizophrenia: Occurs in ~2-3% of those with ID, a rate several times higher than the
general population.
● Attention-Deficit/Hyperactivity Disorder (ADHD)
● Conduct Disorder
● Autism Spectrum Disorder (ASD): Particularly high rate of comorbidity with severe
intellectual disability.
● Common Symptoms (outside of a full disorder):
○ Hyperactivity and short attention span.
○ Self-injurious behaviors (head-banging, self-biting).
○ Repetitive stereotypical behaviors (hand-flapping, toe-walking).
Comorbid Neurological Disorders

Seizures and Epilepsy

● Seizure Disorders: Occur much more frequently in individuals with intellectual disability than
in the general population.
● Prevalence and Severity: The prevalence of seizures increases proportionally with the
severity level of the intellectual disability.
● The "Triple Comorbidity": The combination of intellectual disability, epilepsy, and autism
spectrum disorder is estimated to occur in 0.07% of the general population, with about
one-third of children with ID and epilepsy also having ASD.
Psychosocial Features and Challenges

The Internal Experience

● Common in individuals with mild and moderate ID who are aware of their differences.
● Negative Self-Image & Poor Self-Esteem: Stems from repeated experiences of failure and
not meeting societal or familial expectations.
● Communication Difficulties: Exacerbate feelings of ineptness and frustration.
● Emotional & Behavioral Responses:
○ Withdrawal and social isolation.
○ A perpetual sense of inadequacy.
○ Linked to feelings of anxiety, anger, dysphoria, and depression.
● Common Traits: Poor frustration tolerance, interpersonal dependence, and a rigid
problem-solving style.
Etiology

An exploration of the genetic, developmental, and environmental factors contributing to intellectual

disability.

A Multifactorial Condition

● Etiology: Can be genetic, developmental, environmental, or a combination.

● Known vs. Unknown Causes:
○ Severe ID: Etiology is known in about 75% of cases.
○ Mild ID: Etiology is apparent in up to 50% of cases.
● Key Factors:
○ Genetic: Chromosomal disorders (e.g., Down syndrome) and single-gene mutations
(e.g., Fragile X).
○ Developmental/Environmental (Prenatal): Infections, toxins (e.g., alcohol), maternal
health.
○ Acquired (Perinatal/Postnatal): Prematurity, trauma, infections, lead exposure.
○ Sociocultural: Deprivation of nutrition, nurturance, and stimulation.
○ The severity of intellectual disability may be related to the timing and duration of a given
trauma as well as to the degree of exposure to the central nervous system (CNS).
Genetic Etiology

● Chromosomal Abnormalities:
○ Visible: Large-scale changes like Trisomy 21 (Down syndrome).
○ Submicroscopic: Small deletions/duplications (Copy Number Variants - CNVs), accounting for
13-20% of cases.
● Single-Gene Causes:
○ Mutations in a single gene, like the FMR1 gene in Fragile X syndrome. It is the most common
and first X-linked gene to be identified as a direct cause of intellectual disability. Abnormalities
in autosomal chromosomes are frequently associated with intellectual disability, whereas
aberrations in sex chromosomes can result in characteristic physical syndromes that do not
include intellectual disability (e.g., Turner’s syndrome with XO and Klinefelter’s syndrome
with XXY, XXXY, and XXYY variations). Some children with Turner’s syndrome have normal
to superior intelligence.
 ● Predisposing Factors for Chromosomal Issues:
○ Advanced maternal age
○ Increased paternal age
○ X-ray radiation exposure

When Genes Predict Behavior

● Definition: A syndrome of observable behaviors that occurs with a significantly greater probability in
individuals with a specific genetic abnormality.
● Key Examples:
○ Fragile X Syndrome: High rates of ADHD, ASD, and avoidant behaviors.
○ Prader-Willi Syndrome: Compulsive eating (hyperphagia), temper tantrums, and irritability.
○ Lesch-Nyhan Syndrome: Severe compulsive self-mutilation.
●
Down Syndrome (Trisomy 21)

● Cause: An extra copy of chromosome 21. Most common chromosomal disorder causing
moderate ID.
● Three Types:
1. Trisomy 21 (~95%): Extra chromosome 21 in all cells (nondisjunction).
2. Translocation (~4%): Part of chromosome 21 attaches to another chromosome; can be
inherited.
3. Mosaicism (~1%): Mixture of normal and trisomic cells.
● Features: Characteristic physical attributes, developmental delays.
● Health Concerns: High incidence of Alzheimer's-like changes (plaques and tangles - these
are abnormal structures formed in brain) after age 40, leading to cognitive decline.
Fragile X Syndrome

● Cause: Mutation on the FMR1 gene on the X chromosome (Xq27.3). The second most
common single cause of ID.
● Prevalence: ~1 in 1,000 males; 1 in 2,000 females.
● Phenotype: Large head/ears, short stature, hyperextensible joints.
● Behavioral Profile:
○ High rates of ADHD, learning disorders, and ASD.
○ Language deficits: Rapid, perseverative speech with abnormalities in combining words
into phrases and sentences.
○ Relative strengths in communication and socialization.
● Gender Differences: Females are often less impaired than males.
Other Key Genetic Syndromes

● Prader-Willi Syndrome:
○ Cause: Small deletion on chromosome 15.
○ Features: Compulsive eating, obesity, hypogonadism, hypotonia, intellectual disability.
● Cri-du-Chat (Cat's Cry) Syndrome:
○ Cause: Deletion on chromosome 5.
○ Features: Severe ID, microcephaly- (A condition where a baby’s head is smaller than
normal for their age and sex. It often means the brain has not developed properly or has
stopped growing.), distinct physical traits, and a characteristic cat-like cry in infancy.
● Rett Syndrome:
○ Cause: Dominant X-linked gene, affects only females.
○ Features: Progressive neurological disability starting around age 1. Loss of skills,
ataxia, seizures, and characteristic stereotyped hand-wringing movements.
● Lesch-Nyhan Syndrome:
○ Cause: Rare X-linked disorder of purine metabolism.
○ Features: Choreoathetosis, spasticity, and severe compulsive self-mutilation (biting).
● Neurofibromatosis (von Recklinghausen's):
○ Cause: Single dominant gene.
○ Features: Café au lait spots, neurofibromas. Mild ID occurs in up to one-third of cases.
● Tuberous Sclerosis:
○ Cause: Autosomal dominant transmission.
○ Features: Progressive ID in up to two-thirds of cases, seizures are very common, skin
abnormalities (ash-leaf spots).
● Phenylketonuria (PKU):
○ Cause: Inability to metabolize the amino acid phenylalanine.
○ Impact: If untreated, leads to severe ID, hyperactivity, and seizures.
○ Prevention: Largely preventable with newborn screening and a lifelong
low-phenylalanine diet.
● Maple Syrup Urine Disease:
○ Cause: Inability to break down certain amino acids (leucine, isoleucine, valine).
○ Impact: If untreated, it is usually fatal in early infancy. Survivors have severe ID.
○ Treatment: A diet low in the involved amino acids
Adrenoleukodystrophy - The most common of several disorders of sudanophilic cerebral sclerosis,
adrenoleukodystrophy is characterized by diffuse demyelination of the cerebral white matter
resulting in visual and intellectual impairment, seizures, spasticity, and progression to death. The
cerebral degeneration in adrenoleukodystrophy is accompanied by adrenocortical insufficiency.
The disorder is transmitted by a sex-linked gene located on the distal end of the long arm of the X
chromosome. The clinical onset is generally between 5 and 8 years of age, with early seizures,
disturbances in gait, and mild intellectual impairment. Abnormal pigmentation reflecting adrenal
insufficiency sometimes precedes the neurological symptoms, and attacks of crying are common.
Spastic contractures, ataxia, and swallowing disturbances are also frequent. Although the course is
often rapidly progressive, some patients may have a relapsing and remitting course.
Maternal Health and Infections

● Maternal Illnesses: Uncontrolled diabetes, anemia, hypertension.

● Infections (Timing is crucial, especially in the first trimester):
○ Rubella: Can cause cataracts, deafness, heart defects, and ID. Preventable by immunization.
○ Cytomegalic Inclusion Disease (CMV): Can cause microcephaly and cerebral calcification.
○ Others: Syphilis, Toxoplasmosis- Toxoplasmosis can be transmitted by the mother to the fetus.
It causes mild or severe intellectual disability and, in severe cases, hydrocephalus, seizures,
microcephaly, and chorioretinitis.
○ Herpes Simplex- The herpes simplex virus can be transmitted transplacentally, although the
most common mode of infection is during birth. Microcephaly, intellectual disability, intracranial
calcification, and ocular abnormalities may result.
● HIV: Vertical transmission can lead to progressive encephalopathy. Rates have dramatically
decreased with modern antiviral treatments.
Prenatal Substance Exposure

Preventable Causes of ID

● Fetal Alcohol Syndrome (FAS):

○ A leading preventable cause of ID.
○ Results from prenatal alcohol exposure.
○ Features: Facial dysmorphism, microcephaly, learning disorders, ADHD, and ID.
● Prenatal Opioid Exposure:
○ Results in low birth weight and neonatal withdrawal syndrome (irritability, hypertonia,
high-pitched cry).
○ Increased long-term risk for impulsivity and behavioral problems.
● Prenatal Cocaine Exposure:

○ High risk for low birth weight and premature delivery.

○ Can cause transient neurological and behavioral abnormalities in newborns.
○ Seizures are unusual, but the withdrawal syndrome can be life-threatening to infants if it is
untreated. Diazepam (Valium), phenobarbital (Luminal), chlorpromazine (Thorazine), and
paregoric have been used to treat neonatal opioid withdrawal. The long-term consequences of
prenatal opioid exposure are not fully known; the children’s developmental milestones and
intellectual functions may be within the normal range, but they have an increased risk for
impulsivity and behavioral problems. Infants prenatally exposed to cocaine are at high risk for
low birth weight and premature delivery. In the early neonatal period, they may have transient
neurological and behavioral abnormalities, including abnormal results on EEG studies,
tachycardia, poor feeding patterns, irritability, and excessive drowsiness. Rather than a
withdrawal reaction, the physiological and behavioral abnormalities are a response to the
cocaine, which may be excreted for up to a week postnatally.
Perinatal & Postnatal

● Perinatal Period (Around Birth):

○ Prematurity & Low Birth Weight: High-risk factors for neurological and intellectual
impairments.
○ Intracranial Hemorrhage/Ischemia: Can cause significant cognitive abnormalities.
● Acquired Childhood Disorders (Postnatal):
○ Infections: Encephalitis and meningitis can seriously affect cognitive development.
○ Head Trauma: Accidents, falls, and child maltreatment (e.g., "shaken baby" syndrome).
○ Asphyxia: Brain damage from near-drowning.
○ Toxin Exposure: Long-term exposure to lead is a well-established cause of
compromised intelligence.
Environmental & Sociocultural Factors

● Primarily associated with mild intellectual disability.

● Deprivation:
○ Significant lack of nutrition.
○ Lack of nurturance, stimulation, and emotional care (e.g., neglect, failure to thrive).
● Socioeconomic Factors:
○ Poor prenatal and postnatal medical care.
○ Teenage pregnancies (associated with higher risk of complications).
○ Exposure to environmental toxins like lead.
The Diagnostic Framework

1. Comprehensive History: A longitudinal picture of development and functioning.

2. Standardized Intellectual Assessment: Measuring cognitive abilities (IQ).
3. Standardized Adaptive Function Assessment: Measuring conceptual, social, and practical
skills.

Key Principle: A child must show significant deficits (typically 2 standard deviations below the
mean) in BOTH intellectual and adaptive functioning, with onset before age 18. Severity is
determined by the level of adaptive functioning.
History & Psychiatric Interview

● History Taking:
○ Focus Areas: Mother's pregnancy, labor, and delivery; family history of ID or hereditary
disorders; parental consanguinity.
● The Psychiatric Interview:
○ Requires Sensitivity: Adapt communication to the patient's intellectual level while
being respectful of their chronological age.
○ Building Rapport: Use clear, supportive language. Provide structure and positive
reinforcement.
○ Assessment Goals:
■ Evaluate receptive and expressive language.
■ Assess frustration tolerance, impulse control, and coping mechanisms.
■ Elicit the patient's self-image, areas of confidence, and persistence.
Standardized Intelligence Tests

These instruments evaluate cognitive abilities across multiple domains (verbal, performance,
memory, problem-solving).

● Wechsler Scales:
○ WISC: Wechsler Intelligence Test for Children (Ages 6-16).
○ WPPSI-R: Wechsler Preschool and Primary Scale of Intelligence-Revised (Ages 3-6).
● Stanford-Binet Intelligence Scale: Can be used for children as young as 2 years old.
● Kaufman Assessment Batteries:
○ K-ABC: For children ages 2.5 to 12.5 years.
○ KAIT: Kaufman Adolescent and Adult Intelligence Test (Ages 11-85).
Adaptive & Behavioral Scales

● Adaptive Functioning:
○ Vineland Adaptive Behavior Scales: The gold standard for assessing adaptive skills
from infancy to age 18. Domains include Communication, Daily Living Skills,
Socialization, and Motor Skills.
● Behavioral Rating Scales (for ID populations):
○ Aberrant Behavior Checklist (ABC) & Developmental Behavior Checklist (DBC):
General behavioral rating scales.
○ Behavior Problem Inventory (BPI): Screens for self-injurious, aggressive, and
stereotyped behaviors.
○ Psychopathology Inventory for Mentally Retarded Adults (PIMRA): Identifies
comorbid psychiatric symptoms.
Infant & Screening Tests

● Infant Development Scales:

○ Gesell Developmental Schedules
○ Bayley Scales of Infant Development
○ Cattell Infant Intelligence Scale
○ Note: Predictive value is controversial but improves as the child gets older.
● Quick Screening Tests:
○ Visual-Motor: Copying geometric figures, Goodenough Draw-a-Person Test.
○ Vocabulary: Peabody Picture Vocabulary Test (based solely on pictures).
○ Perceptual/Motor: Bender Gestalt Test, Benton Visual Retention Test.
The Physical & Neurological Examination

● Physical Examination:
○ Can reveal stigmata of specific syndromes.
○ Head: Measure circumference (microcephaly/hydrocephalus).
○ Face: Look for dysmorphic features (hypertelorism, flat nasal bridge, epicanthal folds).
○ Other Clues: Low-set ears, protruding tongue, high-arched palate, skin/hair texture.
○ Dermatoglyphics: Uncommon hand ridge patterns can be associated with
chromosomal disorders.
● Neurological Examination:
○ Sensory Impairments: Hearing impairment (10% of ID pop.) and visual disturbances
are common.
○ Seizures: Occur in ~10% of all with ID, and up to one-third of those with severe ID.
○ Motor Disturbances: Abnormal muscle tone (spasticity/hypotonia), abnormal reflexes,
involuntary movements (choreoathetosis), clumsiness.
Clinical Features by Severity Level

● Mild ID:
○ Often not diagnosed until school age.
○ Cognitive deficits: Poor abstraction, egocentric thinking.
○ Academics up to a high elementary level; can acquire vocational skills.
○ Social assimilation can be problematic due to communication deficits and poor
self-esteem.
● Moderate ID:
○ Typically identified earlier due to slower language development.
○ Academics limited to middle-elementary level.
○ Benefit from focus on self-help skills; can be competent at occupational tasks in
supportive settings.
○ Often aware of their deficits, leading to frustration and feelings of alienation.
● Severe ID:
○ Obvious in preschool years with minimal speech and impaired motor development.
○ May develop some language in school-age years.
○ Behavioral approaches are useful for promoting some self-care.
○ Generally need extensive supervision
● Profound ID:
○ Requires constant supervision.
○ Severely limited in communication and motor skills.
○ May develop some simple speech and self-help skills by adulthood.
Common Behavioral Features Across Levels

These features can occur in isolation or as part of a comorbid mental disorder:

● Hyperactivity
● Low frustration tolerance
● Aggression
● Affective instability (mood swings)
● Repetitive and stereotypic motor behaviors (e.g., rocking, hand flapping)
● Self-injurious behaviors (SIBs)
○ Note: SIBs occur more frequently and with greater intensity in more severe forms of
intellectual disability.
Chromosomes & Blood/Urine

● Chromosome Studies:
○ The single most common known cause of ID.
○ Indicated when multiple physical anomalies or developmental delays are present.
○ Techniques:
■ FISH (Fluorescent in situ hybridization): Identifies microscopic deletions.
■ Amniocentesis (~15 wks) - Amniocentesis, in which a small amount of amniotic
Fluid is removed from the amniotic cavity transabdominally at about the 15 weeks
of gestation, has been useful in diagnosing prenatal chromosomal abnormalities.
Its use is considered when an increased fetal risk exists, such as with increased
maternal age
■ Chorionic Villus Sampling (CVS; ~8-10 wks): a screening technique to
determine fetal chromosomal abnormalities. It is done at 8 to 10 weeks of
gestation, 6 weeks earlier than amniocentesis is done. The results are available in
a short time (hours or days) and, if the result is abnormal, the decision to terminate
the pregnancy can be made within the First trimester. The procedure has a
miscarriage risk between 2 and 5 percent; the risk in amniocentesis is lower (1 in
200).
■ MaterniT21: Non-invasive prenatal blood test for Trisomies 21, 18, 13 and sex
chromosome abnormalities.
■ Urine and Blood Analysis:
● Used to detect inborn errors of metabolism (e.g., PKU, Lesch-Nyhan
syndrome, galactosemia).
Neuroimaging & Other Evaluations

● Electroencephalography (EEG):
○ Indicated when a seizure disorder is suspected.
○ "Nonspecific" changes are common but not diagnostic of a specific etiology.
● Neuroimaging (CT & MRI):
○ Indicated for seizures, micro/macrocephaly, loss of skills, or focal neurologic signs.
○ Can reveal structural abnormalities and is used in research (fMRI, DTI) to understand
biological mechanisms.
● Hearing and Speech Evaluations:
○ Crucial: Should be performed routinely.
○ Speech development is a reliable criterion for investigating ID.
○ Undetected hearing impairments can simulate intellectual disability.
Course and Prognosis

○ The underlying intellectual impairment is static, but adaptive functioning can improve
with age and a supportive, enriched environment.
○ Prognosis is negatively impacted by comorbid psychiatric disorders.
● Differential Diagnosis:
○ Must rule out:
■ Severe child maltreatment/neglect (deficits may be partially reversible).
■ Sensory disabilities (deafness, blindness).
■ Specific learning disorders or communication disorders (deficits are specific, not
global).
■ Cerebral Palsy.
■ Chronic, debilitating medical conditions.
● Intellectual Disability vs. Autism Spectrum Disorder (ASD):
○ The two frequently coexist (co-morbidity is high).
○ Children with ASD have relatively more severe impairments in social relatedness
and language than other children with the same IQ level.
○ Specific organic syndromes leading to isolated handicaps such as failure to read
(alexia), failure to write (agraphia), or failure to communicate (aphasia), may occur in a
child of normal and even superior intelligence. Children with learning disorders (which
can coexist with intellectual disability) experience a delay or failure of development in a
specific area, such as reading or mathematics, but they develop normally in other areas.
In contrast, children with intellectual disability show general delays in most areas of
development.
● Intellectual Disability vs. Dementia:
○ It's all about the age of onset.
○ If cognitive and adaptive decline begins BEFORE age 18, the diagnosis is Intellectual
Disability.
○ If a person with a normal developmental history experiences cognitive and adaptive
decline AFTER age 18, the diagnosis is Dementia.
○ A person can have both diagnoses if they have ID and then develop dementia later in
life.
Treatment & Management

● Multidisciplinary Approach: Essential for comprehensive care, based on assessment of

social, educational, psychiatric, and environmental needs.
○ Psychiatrists, psychologists, special educators, speech therapists, occupational
therapists, physical therapists, social workers, medical specialists.
● Individualized Treatment Plan (ITP): Tailored to the individual's strengths, weaknesses, and
needs.
● Focus on Strengths: Build upon existing abilities.
● Least Restrictive Environment: Promote inclusion and independence.
● Family Involvement: Support and education for caregivers are vital.
● Educational Interventions:
○ Comprehensive Programs: Address academics, adaptive skills, social skills, and
vocational skills.
○ Individualized Education Programs (IEPs): Developed with school personnel and
family, focusing on functional academic skills and adaptive behaviors.
○ Vocational Training: Job skills, sheltered workshops, supported employment.
○ Communication Focus: Particular attention to improving communication and quality of
life.
○
● Behavioral and Cognitive-Behavioral Interventions:
○ Behavior Therapy: Used to shape and enhance social behaviors, and to
control/minimize aggressive and destructive behaviors.
■ Positive Reinforcement: For desired behaviors.
■ Benign Punishment: (e.g., loss of privileges) for objectionable behaviors.
○ Cognitive Therapy: For those who can follow instructions; includes dispelling false
beliefs and relaxation exercises with self-instruction.
○ Psychodynamic Therapy: Used with patients and families to decrease conflicts about
expectations, reducing anxiety, rage, and depression.
○ Modifications: Psychiatric treatment modalities require modifications considering the
patient's level of intelligence.
○
● Family Education:
○ Crucial Role of Clinician: Educate families on enhancing competence and self-esteem
while maintaining realistic expectations.
○ Balancing Independence & Support: Help families navigate fostering independence
vs. providing a nurturing environment.
○ Counseling/Therapy: Support parents in expressing feelings of guilt, despair, anguish,
denial, and anger.
○ Information Provision: Provide basic and current medical information (causes,
treatment, special training, correction of sensory defects).
● Social Intervention:
○ Addressing Social Isolation: Improve quantity and quality of social competence.
○ Special Olympics International: Largest recreational sports program for this
population.
■ Develops physical fitness.
■ Enhances social interactions, friendships, and self-esteem.
■ Confirmed positive effects on social competence.
Psychopharmacological Interventions

● General Principles:
○ Follow evidence-based paradigms for all children with psychiatric disorders.
○ Empirical approach often necessary due to paucity of randomized trials in ID population.
○ Target Co-occurring Psychiatric Symptoms: Not for ID itself.
○ Careful Monitoring: Increased sensitivity and atypical responses in individuals with ID.
Common Comorbid Psychiatric Symptoms and Disorders:

Aggression, Irritability, and Self-injurious Behavior (SIB):

■ Risperidone: Well-documented for irritability (aggression, self-injury, severe

tantrums) in children with ASD and disruptive behaviors in children with
below-average intelligence. Good safety/tolerability, small cognitive improvement.
■ Atypical Antipsychotics (including Risperidone, Clozapine): Preferred over
older antipsychotics due to decreased risk of tardive dyskinesia, though ID
population is at higher risk generally.
■ Thioridazine: Efficacy in SIB, but "black box" warning for QT prolongation has
drastically diminished use.
● Attention-Deficit/Hyperactivity Disorder (ADHD):
○ Higher prevalence in ID population.
○ Stimulants (e.g., Methylphenidate - Ritalin, Quillivant XR): Provide some benefit in
attention and focus in mildly ID individuals with ADHD.
■ Caution: Higher occurrence of side effects than in typically developing children;
close monitoring essential.
■ Note: Methylphenidate studies haven't shown long-term improvement in social
skills or learning.
■ Recommendation: Prudent to begin with stimulant trial before antipsychotics for
ADHD symptoms.
○ Risperidone: Beneficial in reducing ADHD symptoms, but may increase serum
prolactin.
○ Clonidine: Clinically used for hyperactivity and impulsivity, especially in this population
(scanty data, but clinical ratings suggest efficacy).
○ Amphetamine-based preparations: Efficacious in typically developing children, but not
specifically studied in children with ID.
○ Atomoxetine: Efficacious in children with ASD and prominent ADHD features; clinically
used in ID population.
● Depressive Disorders:
○ Identification: Requires careful evaluation as it may be overlooked when behavioral
problems are prominent.
○ SSRIs (e.g., Fluoxetine - Prozac, Paroxetine - Paxil, Sertraline - Zoloft): Trial
indicated when depressive disorder is diagnosed.
■ Note: Anecdotal reports of disinhibition in response to SSRIs in ID individuals with
ASD.
● Stereotypical Motor Movements:
○ Antipsychotics (Haloperidol, Chlorpromazine, Atypical Antipsychotics): Used
when behaviors are harmful or disruptive; may diminish self-stimulatory behaviors, but
no improvement in adaptive behavior.
 ○ SSRIs (Fluoxetine, Fluvoxamine - Luvox, Paroxetine, Sertraline): May have efficacy
for stereotyped movements, especially when obsessive-compulsive symptoms overlap
(common in comorbid ASD).
● Explosive Rage Behavior:
○ Antipsychotics (particularly Risperidone): Shown to be efficacious.
○ -Adrenergic Receptor Antagonists (Beta-blockers, e.g., Propranolol - Inderal):
Anecdotally reported to result in fewer explosive rages in some children with ID and
ASD.
○ Note: Systematic controlled studies are needed to confirm efficacy.
Services and Support for Children with Intellectual Disability

● Early Intervention:
○ Target Population: Individuals from birth to 3 years of life.
○ Provider: Generally provided by the state, often involving home visits by specialists.
○ Legislation: Emphasized by Public Law 99–447, the Education of the Handicapped
Amendments of 1986.
○ Individualized Family Service Plan (IFSP): Agencies are required to develop an IFSP
for each family, identifying specific interventions to help the family and child.
● School:
○ Legal Mandate: From ages 3 to 21 years, schools in the United States are legally
responsible for providing appropriate educational services.
○ Legislation: Mandates created by Public Law 94–142, the Education for all
Handicapped Children Act of 1975, and expanded by the Individuals with Disabilities Act
(IDEA) of 1990.
○ Individualized Educational Program (IEP): Public schools must develop and provide
an IEP for each student with ID, determined at a meeting with school personnel and the
family.
○ Least Restrictive Environment: Education must be provided in the "least restrictive
environment" that allows the child to learn.
● Supports:
○ Variety of Groups and Services: Available for children with ID and their families.
○ Respite Care: Short-term care allowing families a break, generally set up by state
agencies.
○ Special Olympics: Allows children with ID to participate in team sports and
competitions, fostering physical fitness, social interactions, friendships, and self-esteem.
○ Family Organizations: Many organizations exist for families to connect with others who
have children with ID, providing support and community.