intellectual disability
DESCRIPTION
Presented in Child Psychiatry, Niloufer Hospital in 2010.TRANSCRIPT
Behavioral development, DQ, IQ
G SRINATH
Introduction Maturation of different biological functions-
milestones Anticipated at a particular age Due consideration given to environmental and
social factors
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
Fine MotorAge in months
Activity
4 Bidextrous reach
6Unidextrous reach and transfer, biscuit to mouth (Mouthing)
9 Immature pincer
12 Mature pincer, feeds from cup with spilling
15Imitates 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
Language
Age 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
Personal Social skills
Age 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
Developmental Quotient Up to 6 yrs. DA/CA *100
<20- Profound DD 20-34- Severe DD 35-49- Moderate DD 50-69- Mild DD 70-79- Borderline dev. 80-84- Below average
dev. 85-114- Average dev. >115- Above average
dev.
Screening tools: Denver II Bharatraj DST Phataks’ Baroda DST Trivandrum DST
Formal Tests: Gessell development
schedules Nancy Bayley scale of
development Social / Adaptive scales:
Vineland social maturity scale
DQ
Intelligence Quotient >6 yrs. MA/CA *100 Cut off- 70
Screening tests: Peabody Picture
vocabulary test III Draw a person task Kaufman brief
intelligence test Formal tests:
Wechsler intelligence test
Stanford Binet test Binet Kamat test
MENTAL RETARDATION/ INTELLECTUAL DISABILITY
G SRINATH
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
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
DSM IV TR (2000) Sub-average intellectual functioning IQ<= 70 Deficits in Adaptive behavior (Conceptual, Social
and Practical skills) Onset before 18 years
Mild: 50-55 to 70 Moderate: 35-40 to 50-55 Severe: 20-25 to 35-40 Profound: <20-25 Undiagnosed
ICD 10 Arrested or incomplete development of the
mind Impairment of skills- cognitive, language,
motor and social abilities Development period No flexibility as in DSM
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
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
ClassificationDegree of MR with IQ Adult attainment
Mild (50-69)85%
Literacy ++ (6th grade)- educableSelf-help skills ++Good speech ++Semi-skilled work +
Moderate (35-49)10%
Literacy + (2nd-3rd grade)Self-help skills ++-TrainableDomestic speech +Unskilled work with or without supervision +
Severe (20-34)3-4%
Assisted self-help skills +Minimum speech +Assisted household chores +
Profound (Below 20)1-2%
Speech: Utterances of words +/-Self-help skills +/-Sensory- motor impairments+
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
Maternal Toxins FAS, FHS
Others: Toxemia, IUGR, Radiation, Trauma
Familial MR
Prenatal causes
Perinatal causes Infections:
Meningitis, herpes Labor complications
Trauma, Asphyxia Others
Hypoglycemia, Hyperbilirubinemia, Seizures
Postnatal Causes Infections:
Meningitis, herpes Toxins:
Lead poisoning Others:
CVA, Tumors, Trauma
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
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
Psychological factors Full range of personality Low self image Outer-directedness, learned helplessness
Environmental factors: Social rejection and stigma, peer attitudes, abuse
potential Medical:
Seizures, sensory, motor impairment, medication side effects
Psychiatric illness in ID
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
Behavioral phenotypes: Examples
Behavior Syndrome
Hyperphagia, obsessions & compulsions, skin-picking
Prader-Will syndrome
Hand-wringing Rett syndrome
Self mutilation Lesch-Nyan syndrome
Inappropriate laughter Angelman syndrome
Cat cry Cri-du-chat syndrome
Social anxiety, gaze aversion
Fragile X syndrome
Psychosis VCFS, Prader-Willi Syndrome
Externalizing disorders: ADHD Oppositional defiant disorder Conduct disorder Mixed presentations
Internalizing disorders: Anxiety disorder Phobias, generalized, panic Separation anxiety disorder Social anxiety disorder Depression Obsessive compulsive disorder
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
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
Mental retardation and Affective disorders
Affective disorders in all forms do occur Classical criteria may not be elicited, instead
behavioral equivalents are commonly seen 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
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, talking in English, stubbornness, singing & dancing, and collecting rubbish
Depression: Clinging to mother, weeping, being dull, talking less than usual, sleep and app disturbances, withdrawn, aches & pains
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
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
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
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
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
Common syndromes
Syndrome Key features
Downs 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-orchidism
Angelman syndrome Dysmorphic face - wide mouth, large tongue, thin upper lip, seizures, ataxia
Prader-Willi syndrome Obesity, short stature, small hands/feet, hypotonia
Tuberous sclerosis Sebaceous adenomas, ash-leaf macules, shagreen patches
Common syndromes
Syndrome Key features
MPS I& II Typical facies, coarse skin, skeletal anomalies, corneal clouding, hepatosplenomegaly
Phenylketonuria Light colored hair, abnormal smell of urine, microcephaly and seizures
Autosomal recessive microcephaly
Severe congenital microcephaly with mild to mod MR
Rubinstien Taybi syndrome
Prominent beak-shaped nose, broad thumb and hallux
Cong Hypothyroidism Lethargy, growth failure, coarse and dry skin, constipation, feeding problems, prominent abdomen, bradycardia
Course and Prognosis
MANAGEMENTBIO-PSYCHO-SOCIAL MODAL
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
Management principles (Cont) Early detection &
intervention Parent counseling &
training, Parent management training
Pharmacological Rx Behavior
modification
Developmental Assessment including IQ
Skills training (e.g. Social, communication)
Age appropriate concepts development
Individual counseling Normalization Habilitation
Management
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
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
Nerve Biopsies: MCL Visual evaluation: Cataract, Optic atrophy, cortical
blindness, refractive error Immunologic tests (Ig M antibodies): TORCH infections
Investigations
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
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
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
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
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
Aggression and its various causes
Medical illness Treat medical condition
Pre-seizure irritability Anticonvulsants
Mood disorders SSRIs or mood stabilizers
Task related anxiety CBT and anti anxiety drugs
Associated with delusions
Anti-psychotics
Inability to express needs
Teach functional communication skills
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
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
BM Techniques for building new skills
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
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
BM techniques to eliminate unwanted behaviors
References Psychiatry 3rd edition- Tasman CTP- 9th edition- Kaplan and Saddock Textbook of Pediatrics- O P Ghai- 7th edition
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