Neurodevelopment disorders part 1.2

Question 1

Intellectual Disability:

Answer 1

Used to be known as Mental Retardation

Question 2

Intellectual Disability: ICD

Answer 2

“A reduced level of intellectual functioning resulting in diminished ability to adapt to the daily demands of the normal social environment”

Global ability, not specific impairments, should be the basis of the diagnosis

Question 3

Intellectual Disability: Epidemiology

Answer 3

1-2% of the population
1.5 - 2x more common in males
Majority classified as mild
Mild Intellectual Disability is more common in lower socioeconomic strata, but more severe ID is more evenly distributed among social classes

Question 4

Intellectual Disability: Statistics

Answer 4

Large majority of individuals live outside of state run institutions. Most live in small group home/supervised living or with family

While life expectancy remains lower than the general population, more individuals with intellectual disability are living into old age

Question 5

Intellectual Disability: Diagnostic Criteria

Answer 5

Subnormal intellectual functioning
Adaptive deficits
Onset during the developmental period

Question 6

Intellectual Disability: Subnormal intellect

Answer 6

Defined as IQ score more than two standard deviations below the mean (below 70)
Corresponds to below the 2nd percentile
IQ scores from 70-79 are categorized as borderline

Question 7

Intellectual Disability: Adaptive deficits

Answer 7

Failure to develop age-appropriate skills in important areas of functioning
Communication
Self-care
Social and interpersonal skills
Health
Work
Safety

Question 8

Intellectual Disability: DSM-5

Answer 8

Focused more on description of functioning than particular numbers
Domains:
Conceptual
Social 
Practical

Question 9

Intellectual Disability: Onset

Answer 9

During the developmental period, meaning before age 18
In practice, onset assumed much earlier
Later onset would be classified as a dementia

Question 10

Intellectual Disability: Causation - General Points

Answer 10

Intellectual Disability is a syndrome, not a disease - Final common outcome for many conditions
Effects are a function of the timing and duration of insult and extent of CNS exposure
More severe cases are more likely to involve an identifiable cause.
Cases without an identifiable cause are more likely to be mild

Question 11

Intellectual Disability: Prenatal: Genetic Disorders

Answer 11

Chromosomal aberrations
Downs syndrome
Trisomy 21

Prader-Willi syndrome

Fragile X

Question 12

Intellectual Disability: Down Syndrome (trisomy 21)

Answer 12

Variety of physical stigmata
1/700 births
Moderate or severe retardation typical
Many do not live past 40
Often placid and adaptive in childhood
Neural plaques and neurofibrillary tangles

Question 13

Intellectual Disability: Prader-Willi

Answer 13

Small deletion on chromosome 15
Less than 1/10,000
Compulsive eating behavior, obesity
Hypogonadism, small stature, small hands and feet
Children often oppositional-defiant

Question 14

Intellectual Disability: Fragile X

Answer 14

1/1000 males, 1/2000 females
Females often less impaired
Degree of Intellectual Disability can be mild to severe
High rates of ADHD, autism
Rapid perseverative speech
Most common inherited form of Intellectual Disability, 2nd most common genetic form after Down syndrome

Question 15

Intellectual Disability: Phenylketonuria

Answer 15

“paradigmatic inborn error of metabolism”
Inability to convert phenylalanine to paratyrosine because of absence or inactivity of phenylalanine hydroxylase
Disability tends to be severe
Diet control improves behavior and developmental progress- can be normal IQ

Question 16

Intellectual Disability: Prenatal Causes-External: Maternal infections

Answer 16

Rubella
HIV
Cytomegalovirus
Toxoplasmosis
Herpes Symplex
Syphilis

Question 17

Intellectual Disability: Prenatal:External

Answer 17

Toxins/Teratogens
Maternal substance abuse
Alcohol
Cerebral anoxia

Question 18

Intellectual Disability: Fetal Alcohol Syndrome

Answer 18

The most common preventable cause is in utero alcohol exposure

Question 19

Intellectual Disability: Perinatal Causes

Answer 19

Infection
Meningitis
Encephalitis
Trauma
Cerebral hypoxia

Question 20

Intellectual Disability: Postnatal Causes

Answer 20

Infections
Meningitis
Encephalitis

Toxins
Lead poisoning

Question 21

Intellectual Disability: Mild Intellectual Disability

Answer 21

IQ score 55-69, about 85% of cases
May be able to hold a job, learn to read and write, complete high school in special education classes
May function independently but need assistance and guidance when facing unusual social or economic stress

Question 22

Intellectual Disability: Mild Intellectual Disability: Descriptions`

Answer 22

Language development slower than normal, but will be functional
Self-care skills also slower to develop
Disabilities evident in school, often when diagnosis is made
Learn basic skills at around 6th grade level
Disabilities may interfere with some social roles or activities (e.g., marriage)

Question 23

Intellectual Disability: Severe and Profound Intellectual Disability

Answer 23

IQ scores 20-35 (Severe) and below 20 (Profound) - Total about 5% of cases
Will usually require institutional care
Limited or no language
Motor impairments more clearly showing CNS damage/maldevelopment

Question 24

Intellectual Disability: Severe and Profound Intellectual Disability: description

Answer 24

Restricted mobility
Incontinence
Likely to have a clear biological cause
At the higher end, may benefit from habit training and contribute partially to personal maintenance, with supervision

Question 25

Intellectual Disability: Intellectual Disability: IQ to age

Answer 25

Mild: 50-55 to 70 (*85%) Age 9-12 Moderate: 35-40 to 50-55 Age 6-9 Severe: 20-25 to 35-40 Age 3-6 Profound: below 20-25 Age < 3 How old are their friends?

Question 26

Intellectual Disability: Psychiatric disorders

Answer 26

Range of disorders is extensive Incidence several times higher than in the general population Includes mood disorders, schizophrenia, conduct disorder, autism, and ADHD. Disruptive and conduct disorder behavior more common in mild MR

Question 27

Intellectual Disability: Psychiatric disorders 2

Answer 27

“Autistic” behaviors such as self-stimulation and self-injury are more common in moderate to severe Difficulties with social skills, isolation, communication deficits, self esteem issues, and frustration are common sources of distress.

Question 28

Intellectual Disability: Treatment Principles

Answer 28

``` Normalization principle Right to community living Education and training for all children Employment of adults in the community Use of normal community services and facilities Advocay and appropriate protection ```

Question 29

Intellectual Disability: Treatment

Answer 29

Careful individual assessment Supportive and optimizing environment Behavior therapy Medications used for depression, behavior dyscontrol, psychosis, and other comorbid pathology

Question 30

Autism

Answer 30

DSM-IV used to classify as multiple disorders (Autism, Asperger’s etc.), now all Autism Spectrum Disorder, then identify level of dysfunction Rett’s is no longer in the DSM

Question 31

Autism history

Answer 31

First clearly described in1940s Early thinking about cause blamed cold or otherwise abnormal parents Often classified before 1980 as a type of childhood schizophrenia - since recognized as distinct entity

Question 32

Autism Diagnostic Criteria

Answer 32

Impairment in reciprocal social interaction Impairments in communication and imaginative activity Markedly restricted range of activities and interests

Question 33

Autism: Social interaction

Answer 33

Lack of social response Lack of eye contact Lack of interest in and response to affection Lack of response to emotion in others

Question 34

Autism: Language abnormalities

Answer 34

``` Delayed development, sometimes mute Some begin development and then there is an abrupt cessation around age 2 Stereotyped and repetitive expression Abnormal inflections and intonations Abnormal use of pronouns Echolalia ```

Question 35

Autism: Restricted activities and interests

Answer 35

Anxiously obsessive insistence on sameness Narrow range of spontaneous activities Limited food tolerances Preference for inanimate objects Stereotyped and repetitive motor behavior

Question 36

Autism: Sensory Impairments

Answer 36

May show evidence of tactile defensiveness | “Super” hearing

Question 37

Autism: Epidemiology

Answer 37

Estimates of incidence are in the range of 4.9-21 per 10,000, though range higher when less stringent criteria are used. Now see estimates as high as 1 in 86. 4:1 more common in males except Rett’s which is almost exclusively female Diagnosed in 2-4% of the siblings of index patients, which is many times higher than the rate in the general population

Question 38

Autism: Intellect

Answer 38

IQ scores above 70 are found in only about 30% of patients though new studies indicate this may be as high as 50% About 30% have mild Intellectual Disabilities About 40% have IQ scores below 50-55. Visuospatial abilities and rote learning skills may be better maintained on IQ tests than are verbal, sequencing, and abstraction skills. These children often exhibit high intertest scatter, meaning there is more variability in their scores than usual. So called “splinter functions” and “savants”

Question 39

Autism: Diagnosis: Levels 1, 2

Answer 39

Level 1: Requiring Support Noticeably awkward social overtures May have difficulty with back and forth conversations Difficulty switching between activities Problems with organization These individuals would have been diagnosed with Asperger’s in the past Level 2: Requiring Substantial Support Marked problems with verbal and non-verbal communication Very limited, narrow interests Inflexibility in behavior Distress when need to change focus or action

Question 40

Autism: Diagnosis: Levels 3

Answer 40

Level 3: Requiring Very Substantial Support Severe communication deficits Minimal response to social overtures Inflexibility of behaviors interfere significantly with all daily functions These individuals would have been diagnosed with Autism in the past Now also can diagnose with or without: Intellectual impairment Language impairment Can also code for known medical, genetic, environmental cause as well as association with another neurodevelopmental disorder

Question 41

Autism: Course and Prognosis

Answer 41

The disorder is lifelong Only 2-3% of patients make a fully normal adjustment (e.g., completing school, obtaining employment, living independently) This is improving with greater understanding and more community supports

Question 42

Autism: Rett’s Disorder

Answer 42

Apparently normal development for the first 5 months of life Deceleration of head growth between 5 and 48 months Loss of social engagement early on Severely impaired language Severely impaired motor functioning

Question 43

Autism: `Treatment Goals

Answer 43

Advancement of normal development, particularly regarding cognition, language and socialization Promotion of learning and problem solving Reduction of behaviors that impede learning Assistance to families Treatment of comorbid psychiatric disorders

Question 44

Autism: Treatment Coordination

Answer 44

``` Works best with a multi-disciplinary team Speech/Language Pathologist Occupational Therapist Behavioral Specialist/Psychologist Primary Care Physician Psychiatrist School Personnel Case Manager Family ```

Question 45

ADHD:

Answer 45

``` Attention Deficit Hyperactivity Disorder Predominantly hyperactive/impulsive presentation Predominantly Inattentive presentation Combined Presentation Identify as Mild, Moderate, Severe ```

Question 46

ADHD: Attention Deficit Hyperactivity Disorder

Answer 46

``` Most common referral issues along with disruptive behavior disorders Problematic across multiple environments Home School Academic progress Peer relations ```

Question 47

ADHD: Two broad categories of difficulty:

Answer 47

Two broad categories of difficulty: Difficulty maintaining and focusing attention Hyperactivity and impulsivity

Question 48

ADHD: Incidence

Answer 48

Reasonable estimate of incidence is 3-5% of school age children Some have argued for estimates in the neighborhood of 10%. 3x more common in boys Parents show increased incidence of ADHD, sociopathy, alcoholism, and learning disorders.

Question 49

ADHD: Causal influences

Answer 49

Causal influences of hypersensitivity to foods or food additives have not been confirmed. Genetic findings suggestive of dopamine receptor pathology Wide range of perinatal and prenatal conditions. Decreased cerebral blood flow and metabolism in the frontal lobes ``` Frontal involvement and behavioral features are consistent with neuropsychological findings of impairment in executive functions. Reasoning Planning Organization Impulse control ```

Question 50

ADHD: Causal influences 2

Answer 50

Typically diagnosed in early school years , sometimes in preschool Becomes evident when formal learning situation requires increasing attention span and impulse control. May be evident earlier in organized situations where behavior can be compared with peers

Question 51

ADHD: Symptoms of Hyperactivity

Answer 51

Fidgets with hands or feet or squirms in seat Often leaves seat in school or other situations where remaining seated is expected Often runs about or climbs excessively in situation in which it is inappropriate Often has difficulty playing or engaging in leisure activities quietly Is often “on the go” or acts as if “driven by a motor” Often talks excessively

Question 52

ADHD: Symptoms of Impulsivity

Answer 52

Often blurts out answers before questions have been completed Often has difficulty awaiting turn Often interrupts or intrudes on others

Question 53

ADHD: Symptoms of Inattention

Answer 53

Often fails to give close attention to details or makes careless mistakes in schoolwork, work or other activities Often has difficulty sustaining attention in tasks or play activities Often does not seem to listen when spoken to directly Often does not follow through on instructions and fails to finish school work, chores, or duties in the workplace Often has difficulty organizing tasks and activities Often avoids, dislikes, or is reluctant to engage in tasks that require sustained mental effort such as schoolwork or homework Often loses things necessary for tasks or activities Is often distracted by extraneous stimuli Is often forgetful in daily activities

Question 54

ADHD- Predominantly hyperactive-Impulsive Presentation

Answer 54

6 or more symptoms of hyperactivity-impulsivity | < 6 symptoms of inattention

Question 55

ADHD- Predominantly Inattentive Presentation

Answer 55

6 or more symptoms of inattention < 6 of hyperactivity/impulsivity More often diagnosed in girls More often diagnosed later

Question 56

ADHD-Combined Presentation

Answer 56

6 or more symptoms of inattention | 6 or more symptoms of hyperactivity-impulsivity

Question 57

ADHD: Social and interpersonal effects

Answer 57

Demands on parents Classroom management Relationships with peers

Question 58

ADHD: Course

Answer 58

There is significant persistence of symptoms into adulthood in 15-20% of cases. In the majority, there is at least partial remission between 12 and 20 years of age. Hyperactivity is often first to diminish. Many adults continue to have learning problems and impulsivity.

Question 59

ADHD: Management

Answer 59

Consistency of contingencies and expectation Parental education, support, and skill development Behavioral therapy Cognitive Behavioral therapy Development of instructional support plan IEP Section 504