Behavioral development, DQ, IQ

Dr. Ravi Soni

Introduction
Maturation of different biological functionsmilestones Anticipated at a particular age Due consideration given to environmental and social factors

Gross Motor
Age in months
3 5 6 8 9 Neck holding Roll over Sits with support Sits without support, crawling, Stands with support Creeps, walks but falls, stands without support Walks alone, creeps upstairs Running Walks stairs 2 feet at a time Walks up stairs alternate feet, rides tricycle Walks down stairs alternate feet, hopping

Activity

12
15 18 24 36 48

Fine Motor
Age in months 4 6 9 12 15 18 24 36 48 60 72 84 Bidextrous reach Unidextrous reach and transfer, biscuit to mouth (Mouthing) Immature pincer Mature pincer, feeds from cup with spilling Imitates Scribbles, 2 blocks, picks up glass and drinks Scribbles, 3 blocks, feeds with spoon without spilling Copies straight line, 6 blocks Copies circle Copies plus Copies triangle Copies rectangle Copies diamond Activity

Language
Age in months 1 Alerts to sounds Cooing Laughs aloud Mono syllables Bi syllables 1-2 words with meaning 8-10 words 2 word sentences Activity

3
4 6 9 12 18 24 36 48 60

Gender identity, full name

Story telling, songs, poems Asks meaning of words

Personal Social skills

Age in months 2 3 Social smile Recognizes mother Stranger anxiety Waves bye-bye Plays ball game Activity

6
9 12 18 24 36 48 60

Copies parents in task

Asks for food Shares toys Plays in a group 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 Dr. Ravi Soni

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):
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

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

Classification
Degree of MR with IQ
Mild (50-69) 85%

Adult attainment
Literacy ++ (6th grade)- educable Self-help skills ++ Good speech ++ Semi-skilled work + Literacy + (2nd-3rd grade) Self-help skills ++-Trainable Domestic speech + Unskilled work with or without supervision + Assisted self-help skills + Minimum speech + Assisted household chores + Speech: Utterances of words +/Self-help skills +/Sensory- motor impairments+

Moderate (35-49) 10%

Severe (20-34) 3-4%

Profound (Below 20) 1-2%

 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.

Prenatal causes
Maternal Toxins
FAS, FHS

Others:
Toxemia, IUGR, Radiation, Trauma

Familial MR

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

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

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

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

Highly Prevalent Psychiatric Symptoms

Hyperactivity Short attention span Self injurious behaviors Repetitive stereotypal behaviors

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

Personality styles and Traits

Negative self image Low self esteem Poor frustration tolerance Interpersonal dependence Rigid problem solving

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

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 Hyperphagia, obsessions & compulsions, skin-picking Hand-wringing Self mutilation Syndrome

Prader-Will syndrome
Rett syndrome Lesch-Nyan syndrome

Inappropriate laughter Cat cry Social anxiety, gaze aversion

Psychosis

Angelman syndrome Cri-du-chat syndrome Fragile X syndrome

VCFS, Prader-Willi Syndrome

 Externalizing disorders: manifested in childrens 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

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

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

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

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 Downs syndrome Key features Typical facies, short stature, slanting eyes, simian crease, cup-shape ears, clinodactyly, CHD, Elongated triangular face, protruding or prominent ears, macro-orchidism Dysmorphic face - wide mouth, large tongue, thin upper lip, seizures, ataxia Obesity, short stature, small hands/ feet, hypotonia Sebaceous adenomas, ash-leaf macules, shagreen patches

Fragile X syndrome

Angelman syndrome Prader-Willi syndrome Tuberous sclerosis

Common syndromes:
Syndrome MPS I& II Key features Typical facies, coarse skin, skeletal anomalies, corneal clouding, hepatosplenomegaly Light colored hair, abnormal smell of urine, microcephaly and seizures

Phenylketonuria

Autosomal recessive microcephaly

Rubinstien Taybi syndrome Cong Hypothyroidism

Severe congenital microcephaly with mild to mod MR

Prominent beak-shaped nose, broad thumb and hallux Lethargy, growth failure, coarse and dry skin, constipation, feeding problems, prominent abdomen, bradycardia

Downs Syndrome

Fragile X syndrome

Angelmann Syndrome:

Prader Willi Syndrome:

William Syndrome:
Elfin Facies:
Showing low set and posteriorly rotated ears:

Tuberous Sclerosis:

Cri Du Chat Syndrome

Rubinstein Taybi Syndrome:

Course and Prognosis

MANAGEMENT BIO-PSYCHOSOCIAL 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

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.

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

Investigations
FISH: Prader -Willi syndrome, William syndrome, Subtelomeric 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

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
Mood disorders Task related anxiety Associated with delusions

Anticonvulsants
SSRIs or mood stabilizers CBT and anti anxiety drugs Anti-psychotics

Inability to express needs

Teach functional communication skills

Aggression and self injurious behavior: lithium, naltrexone, carbamazepine, valproate, risperidone. Stereotypical motor movements: anti psychotics, SSRIS. Explosive rage behavior: Beta blockers, antipsychotics.

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 childs 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

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

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

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

 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

Thank you

MCQ
Which is the most common inherited cause of learning disability? Downs Syndrome Phenylketonuria Fragile X Syndrome Patau Syndrome

MCQ
In which of the following disorders Gaze Aversion is present other than Fragile X Syndrome? ADHD Cry Du Chat Syndrome Autism Downs Syndrome

MCQ
Which of the following is not a X-linked inherited syndrome? Retts Syndrome Lesch-Nyhan Syndrome Niemann-Pick Disease Fabrys Disease

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