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Intellectual Disabilities by Dr. Senky.pptx
- 1. Intellectual Disabilities BY –Dr. Bhutwala Senky Moderator – Prof (Dr.) Rajveer Yadav sir
- 2. Introduction • Intellectual disability(ID) is a neurodevelopmental disorder. • Characterized by impairments in general mental abilities and adaptive functioning. • Onset during developmental period.
- 3. Definition • ID isdefined as significantly subaverage intellectual functioning (IQ <70) with concurrent deficits in adaptive behavior, manifested during the developmental period.
- 4. DSM-5 Criteria • 1.Deficits in intellectual functions (reasoning, problem solving, etc.) • 2. Deficits in adaptive functioning (conceptual, social, and practical domains) • 3. Onset during developmental period
- 5. Epidemiology • • Globalprevalence ~1–3% • • More common in males (ratio 1.6:1) • • Higher incidence in low-income settings • • Mild ID forms the majority (~85%)
- 6. Classification by Severity •• Mild: IQ 50–69 - independent living possible with support • • Moderate: IQ 35–49 - semi-independent living with supervision • • Severe: IQ 20–34 - requires continuous support • • Profound: IQ <20 - complete dependency
- 7. Functional Classification • •Based on adaptive functioning in conceptual, social, and practical domains • • Assessed using scales like Vineland Adaptive Behavior Scales
- 8. Etiological Classification • •Syndromic vs. Non-syndromic • • Genetic, Metabolic, Environmental, Multifactorial • • Categorized as prenatal, perinatal, or postnatal
- 9. Prenatal Causes • •Genetic: Down syndrome, Fragile X syndrome • • Infections: Rubella, CMV, toxoplasmosis (TORCH) • • Teratogens: Alcohol (FAS), antiepileptics, radiation
- 10. Perinatal Causes • •Birth asphyxia/hypoxic-ischemic encephalopathy • • Prematurity and low birth weight • • Neonatal jaundice/kernicterus • • Birth trauma
- 11. Postnatal Causes • •CNS infections (meningitis, encephalitis) • • Traumatic brain injury • • Severe/prolonged malnutrition • • Environmental neglect/deprivation
- 12. Clinical Presentation - Cognitive •• Global developmental delay in infancy • • Difficulty in learning new tasks • • Impaired problem-solving, judgment • • Poor academic performance
- 13. Clinical Presentation - Language •• Delayed speech and language development • • Limited vocabulary, poor articulation • • Often expressive more affected than receptive
- 14. Clinical Presentation -Motor • • Hypotonia or hypertonia • • Delayed gross and fine motor milestones • • Coordination difficulties
- 15. Behavioral Characteristics • •Hyperactivity • • Attention deficits • • Aggression or self-injurious behavior • • Stereotypies and autistic features
- 16. Psychiatric Comorbidities • •ADHD • • Autism Spectrum Disorder • • Anxiety and mood disorders
- 17. Intelligence Testing • •Stanford-Binet Intelligence Scale • • Wechsler Preschool & Primary Scale (WPPSI) • • Wechsler Intelligence Scale for Children (WISC-V)
- 18. Stanford-Binet Intelligence Scales • •Age: 2–85+ years • • Evaluates reasoning, knowledge, quantitative reasoning, visual-spatial processing • • Provides Full-Scale IQ score
- 20. Wechsler Intelligence Scales •• WPPSI: Age 2.5–7 years • • WISC-V: Age 6–16 years • • WAIS: Age >16 years • • Measures verbal comprehension, processing speed, working memory, etc.
- 21. Adaptive Behavior Assessment •• Vineland Adaptive Behavior Scales • • Adaptive Behavior Assessment System (ABAS) • • Domains: communication, daily living, socialization
- 22. Vineland Adaptive Behavior Scales •• Assesses adaptive behavior in daily life • • Domains: Communication, Daily Living Skills, Socialization, Motor Skills • • Useful for planning interventions
- 23. Adaptive Behavior Assessment System(ABAS) • • Provides a comprehensive assessment of adaptive skills • • Parent/Teacher/Clinician forms available • • Helps in diagnosis, treatment planning
- 24. Diagnostic Flowchart • 1.Suspected ID Screening (e.g., Denver) → • 2. Full developmental evaluation (Bayley, Griffiths) • 3. Cognitive testing (WISC, Stanford-Binet) • 4. Adaptive skills (Vineland, ABAS) • 5. Investigations if etiology unclear
- 25. History Taking • •Detailed antenatal, perinatal, developmental, and family history • • Exposure to infections or toxins • • Consanguinity and family history of ID
- 26. Physical Examination • •Dysmorphic features • • Growth parameters • • Neurological findings (tone, reflexes, seizures) • • Skin signs (neurocutaneous syndromes)
- 27. Investigations - Metabolic •• Tandem mass spectrometry • • Serum ammonia, lactate, TSH, cortisol • • Urine organic acids, plasma amino acids
- 28. Investigations - Genetic •• Karyotype (e.g., Down syndrome) • • Fragile X testing (FMR1 CGG repeat analysis) • • Chromosomal microarray • • Whole exome/genome sequencing
- 29. Neuroimaging • • MRIbrain preferred for structural anomalies, white matter disease • • CT if MRI not available • • Neurosonography in neonates
- 30. EEG • • Indicatedif seizures suspected • • Diagnostic in epileptic encephalopathies • • May show diffuse slowing or epileptiform activity
- 31. Management Overview • •Early intervention programs • • Special education • • Speech, occupational, physical therapy • • Family and community support
- 32. Educational Interventions • •IEP (Individualized Education Program) • • Learning aids and structured routines • • Special educators • • Inclusive classroom practices
- 33. Behavioral Interventions • •Applied Behavior Analysis (ABA) • • Cognitive Behavioral Therapy (CBT) • • Behavior modification plans
- 34. Speech & LanguageTherapy • • Focus on both expressive and receptive skills • • Use of AAC for non-verbal children • • Speech stimulation strategies
- 35. Occupational Therapy • •Activities of daily living training • • Fine motor skill development
- 36. Physiotherapy • • Addressesgross motor delays • • Improves posture, balance, gait • • Stretching, strengthening, coordination
- 37. Pharmacologic Management • •ADHD: Methylphenidate, Atomoxetine • • Aggression: Risperidone, Aripiprazole • • Seizures: Antiepileptics • • Sleep: Melatonin
- 38. Parental Counseling • •Emotional support and realistic goal setting • • Empowering parents in care • • Addressing guilt and stress
- 39. Family & CommunityRole • • Home-based interventions • • Sibling support programs • • Peer support groups
- 40. Multidisciplinary Team Approach • •Pediatrician • • Psychologist • • Therapist (SLT, OT, PT) • • Educator • • Social worker
- 41. Follow-Up • • Periodicdevelopmental re-assessments • • Adjustment of educational plans • • Monitoring for emerging comorbidities
- 42. Prognosis • • Dependenton severity, comorbid conditions, intervention timing • • Early therapy better adaptive outcomes →
- 43. Transition to AdultCare • • Vocational training • • Life skills education • • Adult disability support services
- 44. Preventive Strategies • •Antenatal care • • Screening for infections/genetic risks • • Early stimulation and intervention • • Avoidance of toxins in pregnancy
- 45.
Editor's Notes
- #7 Domains in Vineland-3 Communication Receptive Expressive Written Daily Living Skills Personal Domestic Community Socialization Interpersonal Relationships Play and Leisure Time Coping Skills Motor Skills (primarily for children under 6) Gross Motor Fine Motor Maladaptive Behavior (optional) Internalizing Externalizing Critical items
- #9 Clinical Features of Fragile X Neurodevelopmental Intellectual disability (mild to severe) Global developmental delay Speech/language delay Learning disabilities Autism spectrum behaviors (60–70% of males) ADHD, anxiety, mood lability Physical Long, narrow face Large ears Prominent jaw and forehead Macroorchidism (post-pubertal males) Joint hypermobility Flat feet Behavioral Poor eye contact Repetitive behaviors (hand-flapping, echolalia) Sensory hypersensitivity Social anxiety/shyness 🧠 Neurological & Imaging Findings Cerebellar vermis hypoplasia (occasionally) Enlarged caudate nucleus EEG: May show abnormalities if seizures are present (10–20% of cases) • Rett Syndrome: MECP2 mutation (females), regression of milestones • Angelman & Prader-Willi Syndromes: Chromosome 15 imprinting disorders
- #20 WAIS (Wechsler Adult Intelligence Scale) WPPSI Block Design - while viewing a constructed model or a picture in a stimulus book, the child uses one- or two-color blocks to re-create the design within a specified time limit. Information - for Picture Items, the child responds to a question by choosing a picture from four response options. For Verbal Items, the child answers questions that address a broad range of general knowledge topics. Matrix Reasoning - the child looks at an incomplete matrix and selects the missing portion from 4 or 5 response options. Bug Search - the child uses an ink dauber to mark the image of a bug in the search group that matches the target bug. Picture Memory - the child is presented with a stimulus page of one or more pictures for a specific time and then selects the picture from options on a response page. Similarities - the child is read an incomplete sentence containing two concepts that share a common characteristic. The child is asked to complete the sentence by providing a response that reflects the shared characteristic. Picture Concepts - the child is presented with two or three rows of pictures and chooses one picture from each row to form a group with a common characteristic. Cancellation - the child scans two arrangements of objects and marks target objects. Zoo Locations - the child views one or more animal cards placed on a zoo layout and then places each card in the previously displayed locations. Object Assembly - the child is presented with the pieces of a puzzle in a standard arrangement and fits the pieces together to form a meaningful whole within 90 seconds. Vocabulary - for Picture Items, the child names pictures that are displayed in a stimulus book. For Verbal Items, the child gives definitions for words that the examiner reads aloud. Animal Coding - the child marks shapes that correspond to pictured animals. Comprehension - the child answers questions based on his or her understanding of general principles and social situations. Receptive Vocabulary - the child looks at a group of four pictures and points to the one the examiner names aloud. Picture Naming - the child names pictures that are displayed in a stimulus book.
- #36 ⚡️ 5. Tuberous Sclerosis Complex (TSC) Neurocutaneous syndrome with cortical tubers, subependymal nodules Often presents with infantile spasms or focal seizures Associated with: Intellectual disability Autism Behavioral problems ⚡️ 6. Rett Syndrome X-linked dominant (MECP2 mutation), almost exclusively in girls Early normal development followed by regression, seizures, motor and language loss ID: Severe to profound ⚡️ 7. Angelman Syndrome Chromosome 15q11–q13 maternal deletion / UBE3A mutation Features: Ataxia, happy demeanor, frequent seizures Severe ID, absent speech Characteristic EEG pattern
- #40 Augmentative and Alternative Communication (AAC)