Intellectual disability


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Intellectual disability

  1. 1. Behavioraldevelopment, DQ, IQ Dr. Ravi Soni
  2. 2. Introduction• Maturation of different biological functions- milestones• Anticipated at a particular age• Due consideration given to environmental and social factors
  3. 3. Gross MotorAge in months Activity 3 Neck holding 5 Roll over 6 Sits with support 8 Sits without support, crawling, 9 Stands with support 12 Creeps, walks but falls, stands without support 15 Walks alone, creeps upstairs 18 Running 24 Walks stairs 2 feet at a time 36 Walks up stairs alternate feet, rides tricycle 48 Walks down stairs alternate feet, hopping
  4. 4. Fine MotorAge in months Activity 4 Bidextrous reach 6 Unidextrous reach and transfer, biscuit to mouth (Mouthing) 9 Immature pincer 12 Mature pincer, feeds from cup with spilling 15 Imitates Scribbles, 2 blocks, picks up glass and drinks 18 Scribbles, 3 blocks, feeds with spoon without spilling 24 Copies straight line, 6 blocks 36 Copies circle 48 Copies plus 60 Copies triangle 72 Copies rectangle 84 Copies diamond
  5. 5. LanguageAge in months Activity 1 Alerts to sounds 3 Cooing 4 Laughs aloud 6 Mono syllables 9 Bi syllables 12 1-2 words with meaning 18 8-10 words 24 2 word sentences 36 Gender identity, full name 48 Story telling, songs, poems 60 Asks meaning of words
  6. 6. Personal Social skillsAge in months Activity 2 Social smile 3 Recognizes mother 6 Stranger anxiety 9 Waves bye-bye 12 Plays ball game 18 Copies parents in task 24 Asks for food 36 Shares toys 48 Plays in a group 60 Dressing, undressing, shoe lace tying
  7. 7. Developmental QuotientUp to 6 yrs. Screening tools:DA/CA *100  Denver II  <20- Profound DD  Bharatraj DST  20-34- Severe DD  Phataks’ Baroda DST  35-49- Moderate DD  Trivandrum DST  50-69- Mild DD Formal Tests:  70-79- Borderline dev.  Gessell development  80-84- Below average dev. schedules  85-114- Average dev.  Nancy Bayley scale of  >115- Above average dev. development Social / Adaptive scales:  Vineland social maturity scale
  8. 8. DQ:
  9. 9. Intelligence Quotient >6 yrs.  Screening tests: MA/CA *100  Peabody Picture vocabulary test III Cut off- 70  Draw a person task  Kaufman brief intelligence test  Formal tests:  Wechsler intelligence test  Stanford Binet test  Binet Kamat test
  11. 11. Definitions 1910: Presence of a mental defect, inability to manage ordinary affairs  Idiots: Mental age 2 yrs. or younger  Imbeciles: Mental age 2-7 yrs.  Morons: Mental age 7-12 yrs. 1959 (AAMR): 3 diagnostic criteria  Sub-average intellectual functioning (1 SD below; IQ<=85)  Impairment in adaptive behavior  Onset < 16 yrs.  5 degrees- Borderline, mild, moderate, severe and profound 1973:  IQ<=70, 2SD below  Onset < 16 yrs  No borderline category
  12. 12. AAIDD- 2002 definitionSignificant limitations in  Intellectual functioning and  Adaptive behavior- conceptual, social and practical adaptive skills  Onset < 18 yrs.Assumptions essential  Limitations in the context of community environments  Considering cultural and linguistic diversity  Limitations co exist with strengths  Limitations: Provision of support  Strengths: To improve life functioning
  13. 13. DSM IV TR (2000): Significantly Sub-average intellectual functioning IQ<= 70 Deficits in Adaptive behavior in at least two of the following areas: communication, self care, home living, social/interpersonal skills, use of community resources, self direction, functional academic skills, work, leisure, health and safety. Onset before 18 years  Mild: 50-55 to 70  Moderate: 35-40 to 50-55  Severe: 20-25 to 35-40  Profound: <20-25  Mental Retardation, severity unspecified
  14. 14. History: 1st century- Avicenna- various levels of intelligence 2nd century- Talmud- “ Shoteh”- wanders alone, tears clothes, sleeps in cemetery 1534- Fitz Herbert- earliest Intelligence test- 17th century- John Locke- differentiated MR from Mental Illness 1800- Pinel- “Moral treatment of Mental Patients” Seguin- First need school in Paris, Seguin Form Board, 1st President of AAMR
  15. 15. History: 1905- Binet and Simon- First version of the intelligence test Penrose- 1st scientific study on ID Gessell- Schedule for development Change in terminology • Shoteh • Idiots, Imbeciles, Morons • Mental Retardation • Intellectual disability
  16. 16. ClassificationDegree of MR with IQ Adult attainment Literacy ++ (6th grade)- educableMild (50-69) Self-help skills ++85% Good speech ++ Semi-skilled work + Literacy + (2nd-3rd grade) Self-help skills ++-TrainableModerate (35-49) Domestic speech +10% Unskilled work with or without supervision + Assisted self-help skills +Severe (20-34) Minimum speech +3-4% Assisted household chores + Speech: Utterances of words +/-Profound (Below 20) Self-help skills +/-1-2% Sensory- motor impairments+
  17. 17. • Prevalence:• Mild MR sometimes goes unrecognized until middle childhood.• M:F ratio• 40% between 4 and 18 years of age met criteria for at least one psychiatric disorder.
  18. 18. Prenatal causes Maternal Toxins  FAS, FHS Others:  Toxemia, IUGR, Radiation, Trauma Familial MR
  19. 19. Prenatal causes Genetic causes Chromosomal Aberrations:  Trisomy 21, 13, Cri-du-Chat Syndrome Micro deletions:  Angelmans’ Prader-Willi, Williams’ Syndrome, Rubinstein- Tabyi syndrome Monogenic Mutations:  Tuberous Sclerosis, Fragile X syndrome, Metabolic disorders Malformations:  Holoprosencephaly, Lissencephaly, Neural tube defects Maternal infections:  TORCH, HIV
  20. 20. Perinatal causes Infections: – Meningitis, herpes Labor complications – Trauma, Asphyxia Others – Hypoglycemia, Hyperbilirubinemia, Seizures
  21. 21. Postnatal Causes Infections: – Meningitis, herpes Toxins: – Lead poisoning Others: – CVA, Tumors, Trauma
  22. 22. Environmental and sociocultural factors• Significant deprivation of nutrition and nurturance• Poor medical care, poor maternal nutrition prenatally• Teenage pregnancies• Poor postnatal care, malnutrition, exposure to toxic substances ( lead ), physical trauma• Family instability, multiple but inadequate caretakers• Incapacitating mental disorder in parent
  23. 23. Associated Psychiatric problems (Dual Diagnosis) Axis I + Axis II Disorders Brain damage or dysfunction + social and family factors - psychiatric disorders 3 to 5 times more frequent than in general population Full range of psychiatric disorders Source of high parental stress and social embracement
  24. 24. Highly Prevalent Psychiatric SymptomsHyperactivityShort attention spanSelf injurious behaviorsRepetitive stereotypal behaviors
  25. 25. Psychiatric illness in IDAssessment: Difficult representation of sample Inappropriate developed tests, criteria- Difficulties in using diagnostic criteria, scales and tools etc. due to deficits in abstract thinking and poor communication skills (intellectual distortion) Diagnostic overshadowing Information from the patients unreliableCognitive impairments  communicative skills- behavioral responses like aggression, irritability
  26. 26. Personality styles and TraitsNegative self imageLow self esteemPoor frustration toleranceInterpersonal dependenceRigid problem solving
  27. 27. Psychiatric illness in IDPsychological factors  Low self image  Outer-directedness, learned helplessness  Sense of isolation and inadequacy  Repeated failures and disappointmentEnvironmental factors:  Social rejection and stigma, peer attitudes, abuse potentialMedical:  Seizures, sensory, motor impairment, medication side effects
  28. 28. Behavioral phenotypes Specific behaviors characteristically associated with specific genetic conditions Nyhan 1972 Does not mean only genetic determinism But a combination of genetic, environmental, social and biological factors
  29. 29. Behavioral Phenotypes: Examples Behavior SyndromeHyperphagia, obsessions & Prader-Will syndromecompulsions, skin-pickingHand-wringing Rett syndromeSelf mutilation Lesch-Nyan syndromeInappropriate laughter Angelman syndromeCat cry Cri-du-chat syndromeSocial anxiety, gaze aversion Fragile X syndromePsychosis VCFS, Prader-Willi Syndrome
  30. 30.  Externalizing disorders: manifested in children’s outward behavior rather than their internal thoughts and feelings.  ADHD  Oppositional defiant disorder  Conduct disorder  Mixed presentations  ODD and Conduct disorder are considered as ‘Disruptive Behavior’. Internalizing disorders:  Anxiety disorder  Phobias, generalized, panic  Separation anxiety disorder  Social anxiety disorder  Depression  Obsessive compulsive disorder
  31. 31. Mental retardation and Psychosis Hallucinatory behavior, fearfulness, paranoia, withdrawn behavior, negative Symptoms, catatonic Symptoms, disorganized speech, disorganized thought, psychomotor agitation, aggression, Self Injurious Behaviors are frequently reported Genetic syndromes such as VCFS and Prader-Willi may present with MR and psychosis
  32. 32. Mental retardation and Psychosis (cont) Unusual manifestations:  Staring to side  Nodding and gesticulating as if listening to some one  Shadow boxing with unseen others  Covering eyes or ears as if shutting out stimuli  Placing unusual wrappings around neck, wrist or ankles  Inspecting food with new and out-of-context intensity  Grimacing or wincing as if smelling or tasting something foul
  33. 33. Mental retardation and Affective disorders Affective disorders in all forms do occur Classical criteria may not be elicited, instead behavioral equivalents are commonly seen Depressive equivalents : irritability, unexplained temper tantrums or aggression Vegetative, affective, motor, and behavioral symptoms are common and thinking and perceptual symptoms are less common Atypical presentations such as mixed episodes, rapid cycling are common
  34. 34. Mental retardation and Affective disorders (Cont)Unusual manifestations  Mania: excessive laughing, clapping, over familiarity, wandering, talking about marriage, sexual disinhibition e.g. hugging people of opp. sex, excessive use of cosmetics, talking authoritatively, demanding special foods, drinking too much fluids, using bad language, stubbornness, singing & dancing, and collecting rubbish  Depression: Clinging to mother, weeping, being dull, talking less than usual, sleep and app disturbances, withdrawn, aches & pains
  35. 35. Mental retardation and ADHD  ADHD is reported as common co morbid psychiatric disorder with a prevalence rate of 8.7 – 16%  Children with mild MR scored more on dimension of ‘disruptive behavior’  Multiple co-morbidity is commonMental retardation and PDD  Around 75% of children with PDD meet the criteria for MR  Common in some genetic conditions such as fragile X, tuberous sclerosis and PKU
  36. 36. Instruments specific to this population: PAS-ADD: Psychiatric Assessment Schedule for Adults with Developmental Disability (Moss et al, 1998) RSMB: Reiss Screen for Maladaptive Behavior (Reiss, 1988) PIMRA: Psychopathology Inventory for Mental Retardation in Adults (Senatore et al, 1985) DBC: Developmental Behavior Checklist
  37. 37. Common Associated Physical Problems Seizure disorder Cerebral palsy Visual impairment Hearing impairment Congenital heart disease Cleft lip and cleft palate Nutritional deficiencies Recurrent infections Feeding disorders Skin problems Dental problems
  38. 38. Important clinical questions Reasons for consultation Developmental delay : global vs. restricted Severity of delay or retardation Detectable causes Associated medical problems Associated psychiatric problems Assessment of awareness amongst family Parental expectations What and how to disclose
  39. 39. Clinical evaluationHistory takingPhysical examination  head-to-toe examination  look for sensory impairment  major congenital anomalies  minor congenital anomalies (4 or more MCAs - prenatal diagnosis)Psychological assessmentPhysical investigationsComprehensive diagnosis
  40. 40. Common syndromes:Syndrome Key featuresDowns syndrome Typical facies, short stature, slanting eyes, simian crease, cup-shape ears, clinodactyly, CHD,Fragile X syndrome Elongated triangular face, protruding or prominent ears, macro-orchidismAngelman syndrome Dysmorphic face - wide mouth, large tongue, thin upper lip, seizures, ataxiaPrader-Willi syndrome Obesity, short stature, small hands/ feet, hypotoniaTuberous sclerosis Sebaceous adenomas, ash-leaf macules, shagreen patches
  41. 41. Common syndromes:Syndrome Key featuresMPS I& II Typical facies, coarse skin, skeletal anomalies, corneal clouding, hepatosplenomegalyPhenylketonuria Light colored hair, abnormal smell of urine, microcephaly and seizuresAutosomal recessive Severe congenital microcephaly withmicrocephaly mild to mod MRRubinstien Taybi syndrome Prominent beak-shaped nose, broad thumb and halluxCong Hypothyroidism Lethargy, growth failure, coarse and dry skin, constipation, feeding problems, prominent abdomen, bradycardia
  42. 42. Downs Syndrome
  43. 43. Fragile X syndrome
  44. 44. Angelmann Syndrome:
  45. 45. Prader Willi Syndrome:
  46. 46. William Syndrome: Showing low set and posteriorlyElfin Facies: rotated ears:
  47. 47. Tuberous Sclerosis:
  48. 48. Cri Du Chat Syndrome
  49. 49. Rubinstein Taybi Syndrome:
  50. 50. Course and Prognosis
  52. 52. Management principles Collect good baseline information including pre-morbid states Detailed history of evolution of symptoms including onset, precipitating factors etc. Encourage family and individual to speak and listen to them genuinely Careful observation and analysis of behavioral profile Plan for an individualized comprehensive multi-modal intervention package Use the knowledge and support from care takers and family (collateral history) Regular periodical reviews
  53. 53. Management principles (Cont) Early detection &  Developmental intervention Assessment including Parent counseling & IQ training, Parent  Skills training (e.g. management training Social, communication) Pharmacological Rx  Age appropriate Behavior modification concepts development  Individual counseling  Normalization  Habilitation
  54. 54. Normalization• Mid 1800 – Institutionalization• After mid – 1900 – Deinstitutionalization, With the philosophy of ‘Normalization’ in living situations and ‘Inclusion’ in educational settings.• “The education for all Handicapped Children Act” passed in 1975 mandates the public school system to provision of appropriate educational service to all children with disabilities.• Currently provision for all children, including those with disabilities, ”within the least restrictive environment” is mandated by law.
  55. 55. Management
  56. 56. Investigations Urine screen for abnormal metabolites: Phenyketonuria, homocysteinuria, galactosemia, MPS (Heparan Sulfate) Thyroid function test: Hypothyroidism Advanced metabolic tests (Gas chromatographic Mass Spectroscopic (GCMS), tandem mass spectroscopy (TMS):Wide range of neuro-metaboloic disorders such as fatty acid oxidation disorders, aminoacidopathies, urea cycle disorders and organic acidurias Enzyme studies: Tay-Sachs disease (Hexosaminidase), metachromatic leukodystrophy (Sulphatase A) Karyotyping: Down syndrome, other chromosomal disorders
  57. 57. Investigations FISH: Prader -Willi syndrome, William syndrome, Sub- telomeric deletions Molecular genetics : Fragile X syndrome (FMR1 mutation), Rett syndrome (MECP2 mutation), Brain imaging: Tuberous sclerosis, lissencepahly, Holoprosencephaly EEG: Epileptic encephalopathies such as West syndrome ( infantile spasms, Hypsarrhythmia, deve. regression ) Visual evaluation: Cataract, Optic atrophy, cortical blindness, refractive error Immunologic tests (Ig M antibodies): TORCH infections
  58. 58. Pharmacotherapy Around 20-45% of persons with MR are given psychotropics (Unwin GL, 2008) Persons with MR respond to psychotropic medications in ways similar to the typically developing individuals Rates of response tend to be poorer and occurrence of side effects tends to be more frequent Greater monitoring, use of lower doses and slower dosage increments seem to be essential steps
  59. 59. Pharmacotherapy (Cont)Circumstances for the use of medication: Failure of non-drug interventions Risk of harm to self or others or property High frequency/severity of behavioral problem To treat underlying psychiatric disorders
  60. 60. Some guidelines while starting a medication: Prior to prescription:  Medical and psychosocial causes for behavioral disorder must be ruled out  Psychiatric diagnoses should be seriously tried  The least intrusive and most positive interventions should be used When medication is prescribed:  It should be integral part of treatment plan  It should not diminish the patients’ functional status  The lowest effective dose should be tried  Dose reduction should be considered periodically unless clinically contraindicated  Adverse effects should be monitored periodically
  61. 61. Pharmacotherapy (Cont) Anti-psychotics:  Atypicals are preferred over typicals  EPS and sedation are more frequently reported  Frequent monitoring and rationalization are must  Try to taper, stop and reassess the need to continue  May not require for prolonged durations  Anti cholinergic medication can be used if individual requires Anti convulsants:  Seizures- common co morbid condition  Sodium valproate  Carbamazepine contraindicated in myoclonic seizures  Phenobarbitone- hyper activity
  62. 62. Pharmacotherapy (Cont)Rx of ADHD  Psycho stimulants: Methylphenidate, amphetamines  Most frequently prescribed medication in this population  IQ above 50 – better response  Greater risk for side effects such as tics and social withdrawal, worsening of seizures  Clonidine may be used in some children with hyper arousal, aggressive hyperactivity and tics
  63. 63. Aggression and its various causesMedical illness Treat medical conditionPre-seizure irritability AnticonvulsantsMood disorders SSRIs or mood stabilizersTask related anxiety CBT and anti anxiety drugsAssociated with delusions Anti-psychoticsInability to express needs Teach functional communication skills
  64. 64.  Aggression and self injurious behavior: lithium, naltrexone, carbamazepine, valproate, risperidone. Stereotypical motor movements: anti psychotics, SSRIS. Explosive rage behavior: Beta blockers, antipsychotics.
  65. 65. BM Techniques for building new skills: Goal specification: Specified description of desired behavior to be learnt, based on current skills level and needs Task analysis: Breaking activity into sequential steps; number of steps depends on child’s learning capacity Rewarding: Pleasant event following a given behavior; can be material (food) or social (praise, attention); should be immediate, consistent, appropriate and contingent Modeling: Showing how, or demonstrating, so that the child imitate and learn Chaining: Breaking the task into small steps and teaching one after another
  66. 66. BM Techniques for building new skills: Back chaining: Teaching the last step first and then going backwards Forward chaining: Teaching the first step first Prompting: Assisting the child verbally or physically (hand over hand, gesturing, pointing) and gradually fading the assistance
  67. 67. BM techniques to eliminate unwanted behaviors Disregarding: Ignoring the behavior (as if it is not occurring at all) but continuing the attention to child Ignoring: Ignoring both the child and behavior Limit-setting: Clearly communicating what is acceptable and unacceptable behaviors to child and enforcing these Blocking: Preventing the behavior from being completed (example aggression). Time-out (from positive reinforcement): Removal of attention and reinforcement contingent upon occurrence of a specified maladaptive / undesirable behavior
  68. 68. BM techniques to eliminate unwanted behaviors Differential reinforcement of other behavior: Noticing and rewarding the child while he or she shows desirable behavior or when undesirable behavior is absent (catching the child being good and praising) Over-correction: Child has to not only restore but do something more to set right whatever damage or disturbance that has occurred as a result of undesirable behavior
  69. 69.  I like living. I have sometimes been wildly, despairingly, acutely miserable, racked with sorrow, but through it all I still know quite certainly that just to be alive is a grand thing. -- Agatha Christie
  70. 70. Thank you
  71. 71. MCQWhich is the most common inherited cause of learning disability? Downs Syndrome Phenylketonuria Fragile X Syndrome Patau Syndrome
  72. 72. MCQIn which of the following disorders ‘Gaze Aversion’ is present other than Fragile X Syndrome? ADHD Cry Du Chat Syndrome Autism Downs Syndrome
  73. 73. MCQWhich of the following is not a X-linked inherited syndrome? Retts Syndrome Lesch-Nyhan Syndrome Niemann-Pick Disease Fabry’s Disease
  74. 74. MCQWhich of the following disorders or behaviors are more common in patients with Mild Intellectual Disability? Autistic behaviors Self injurious behaviors Disruptive and Conduct disorder Behaviors Repetitive stereotypal behaviors