Intellectual Disability & Related Syndromes

Vocabulary flashcards summarizing key terms, syndromes, diagnostic criteria, milestones, and treatments related to intellectual disability from the lecture notes.

Rosa's Law (2010)

U.S. law that replaced the term "mental retardation" with "intellectual disability" in federal policy.

Deinstitutionalization Movement

Shift toward community living and school inclusion driven by the philosophy of normalization.

Public Law 94-142

Mandates that public schools provide education to all children with disabilities.

Typical Age of ID Diagnosis

Usually before age 7–8; more severe cases identified earlier.

DSM-5 Criteria for ID

Deficits in intellectual and adaptive functioning with onset before age 18.

Basis of DSM-5 Severity Levels

Determined by adaptive functioning rather than IQ alone.

Conceptual Domain

Language, reading, math, reasoning, knowledge, memory skills.

Social Domain

Empathy, social judgment, communication, rule-following, friendships.

Practical Domain

Self-care, job tasks, money use, recreation, organization.

DSM-5 Severity Categories

Mild, Moderate, Severe, Profound intellectual disability.

Vineland Adaptive Behavior Scale

Standardized test measuring adaptive functioning.

Adaptive Behavior Assessment System-II

Tool assessing adaptive skills from birth to age 89.

Mild Intellectual Disability

IQ ≈ 50-70; ~85% of cases; can live independently with supports.

Moderate Intellectual Disability

IQ ≈ 35-50; ~10% of cases; needs vocational and social support.

Severe Intellectual Disability

IQ ≈ 20-35; ~4% of cases; basic communication, supervised living.

Profound Intellectual Disability

IQ < 20; 1-2% of cases; limited self-care, constant support needed.

ID Prevalence

Affects 1–3% of the population, varying by age and assessment.

Gender Ratio in ID

About 30% more males than females diagnosed.

Predisposing Factors for ID

Genetics, environment, perinatal complications, medical conditions.

Risk Factors for Unknown-Cause ID

Low birth weight, low SES, multiple births, later birth order.

Erikson

Developmental theorist used to frame child milestones.

Social Smile Milestone

Appears around 2 months of age.

Crawling Milestone

Typically achieved by 6–7 months.

Walking Milestone

Begins around 10–12 months.

First Words Milestone

Spoken by about 18 months.

Toilet Training Milestone

Usually mastered around age 2 years.

Abstract Reasoning Milestone

Emerges around 12 years of age.

Denver Developmental Screening Test

Screening tool for developmental problems in young children.

16p11.2 Deletion Syndrome

Microdeletion causing mild ID; prevalence 1:3,000–5,000; high psychiatric comorbidity.

22q11.2 Deletion (Velocardiofacial) Syndrome

Common deletion causing ID and highest genetic risk for schizophrenia.

22q11.2 Physical Complications

Cardiac defects, palatal abnormalities, immune deficiencies, subtle facial features.

22q11.2 Neurocognitive Profile

Deficits in cognitive control, attention, and social cognition.

Angelman Syndrome

Neurogenetic disorder with absent speech, hyperactivity, sleep issues; 1:12,000–20,000 prevalence.

Angelman Physical Features

Protruding tongue, drooling, hypopigmented skin, strabismus, microcephaly by age 2.

Seizures in Angelman

Common before age 3; caution with antipsychotic use.

Down Syndrome (Trisomy 21)

Extra chromosome 21; most common genetic cause of ID; prevalence 1:1000.

Down Syndrome Physical Traits

Flat nasal bridge, high cheekbones, large tongue, hypotonia, hyperflexibility.

Down Syndrome Impairments

Average IQ ≈ 50; language deficits and attention/behavior problems.

Phenylketonuria (PKU)

Inability to metabolize phenylalanine; treated with low-phenylalanine diet.

Fetal Alcohol Spectrum Disorder

Preventable ID with CNS deficits, characteristic facial features, growth retardation.

Fragile X Syndrome

Leading inherited cause of ID; males more affected; 1:4,000 males, 1:8,000 females.

Fragile X Behavioral Traits

Hyperarousal, hyperactivity, social anxiety, gaze aversion; high ASD/ADHD risk.

Rett Syndrome

X-linked disorder in girls causing regression, stereotyped hand movements, impaired communication.

Rett Core Impairments

Severe psychomotor retardation, language loss, gait problems, slowed head growth.

Prader-Willi Syndrome

Paternal 15q deletion or maternal disomy; mild ID, hypotonia, early obesity, hyperphagia.

Prader-Willi Behavioral Issues

Compulsive food seeking, hoarding, impulse control difficulties.

Topiramate in Prader-Willi

Medication effective for self-injury and skin-picking behaviors; SSRIs help anxiety.