Neurodevelopment disorders part 1.1 Flashcards
Intellectual Disability:
Used to be known as Mental Retardation
Intellectual Disability: ICD
“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
Intellectual Disability: Epidemiology
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
Intellectual Disability: Statistics
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
Intellectual Disability: Diagnostic Criteria
Subnormal intellectual functioning
Adaptive deficits
Onset during the developmental period
Intellectual Disability: Subnormal intellect
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
Intellectual Disability: Adaptive deficits
Failure to develop age-appropriate skills in important areas of functioning Communication Self-care Social and interpersonal skills Health Work Safety
Intellectual Disability: DSM-5
Focused more on description of functioning than particular numbers Domains: Conceptual Social Practical
Intellectual Disability: Onset
During the developmental period, meaning before age 18
In practice, onset assumed much earlier
Later onset would be classified as a dementia
Intellectual Disability: Causation - General Points
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
Intellectual Disability: Prenatal: Genetic Disorders
Chromosomal aberrations
Downs syndrome
Trisomy 21
Prader-Willi syndrome
Fragile X
Intellectual Disability: Down Syndrome (trisomy 21)
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
Intellectual Disability: Prader-Willi
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
Intellectual Disability: Fragile X
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
Intellectual Disability: Phenylketonuria
“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
Intellectual Disability: Prenatal Causes-External: Maternal infections
Rubella HIV Cytomegalovirus Toxoplasmosis Herpes Symplex Syphilis
Intellectual Disability: Prenatal:External
Toxins/Teratogens
Maternal substance abuse
Alcohol
Cerebral anoxia
Intellectual Disability: Fetal Alcohol Syndrome
The most common preventable cause is in utero alcohol exposure
Intellectual Disability: Perinatal Causes
Infection Meningitis Encephalitis Trauma Cerebral hypoxia
Intellectual Disability: Postnatal Causes
Infections
Meningitis
Encephalitis
Toxins
Lead poisoning
Intellectual Disability: Mild Intellectual Disability
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
Intellectual Disability: Mild Intellectual Disability: Descriptions`
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)
Intellectual Disability: Severe and Profound Intellectual Disability
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
Intellectual Disability: Severe and Profound Intellectual Disability: description
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
Intellectual Disability: Intellectual Disability: IQ to age
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?
Intellectual Disability: Psychiatric disorders
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
Intellectual Disability: Psychiatric disorders 2
“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.
Intellectual Disability: Treatment Principles
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
Intellectual Disability: Treatment
Careful individual assessment
Supportive and optimizing environment
Behavior therapy
Medications used for depression, behavior dyscontrol, psychosis, and other comorbid pathology
Autism
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
Autism history
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
Autism Diagnostic Criteria
Impairment in reciprocal social interaction
Impairments in communication and imaginative activity
Markedly restricted range of activities and interests
Autism: Social interaction
Lack of social response
Lack of eye contact
Lack of interest in and response to affection
Lack of response to emotion in others
Autism: Language abnormalities
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
Autism: Restricted activities and interests
Anxiously obsessive insistence on sameness
Narrow range of spontaneous activities
Limited food tolerances
Preference for inanimate objects
Stereotyped and repetitive motor behavior
Autism: Sensory Impairments
May show evidence of tactile defensiveness
“Super” hearing
Autism: Epidemiology
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
Autism: Intellect
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”
Autism: Diagnosis: Levels 1, 2
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
Autism: Diagnosis: Levels 3
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
Autism: Course and Prognosis
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
Autism: Rett’s Disorder
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
Autism: `Treatment Goals
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
Autism: Treatment Coordination
Works best with a multi-disciplinary team Speech/Language Pathologist Occupational Therapist Behavioral Specialist/Psychologist Primary Care Physician Psychiatrist School Personnel Case Manager Family
ADHD:
Attention Deficit Hyperactivity Disorder Predominantly hyperactive/impulsive presentation Predominantly Inattentive presentation Combined Presentation Identify as Mild, Moderate, Severe
ADHD: Attention Deficit Hyperactivity Disorder
Most common referral issues along with disruptive behavior disorders Problematic across multiple environments Home School Academic progress Peer relations
ADHD: Two broad categories of difficulty:
Two broad categories of difficulty:
Difficulty maintaining and focusing attention
Hyperactivity and impulsivity
ADHD: Incidence
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.
ADHD: Causal influences
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
ADHD: Causal influences 2
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
ADHD: Symptoms of Hyperactivity
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
ADHD: Symptoms of Impulsivity
Often blurts out answers before questions have been completed
Often has difficulty awaiting turn
Often interrupts or intrudes on others
ADHD: Symptoms of Inattention
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
ADHD- Predominantly hyperactive-Impulsive Presentation
6 or more symptoms of hyperactivity-impulsivity
< 6 symptoms of inattention
ADHD- Predominantly Inattentive Presentation
6 or more symptoms of inattention
< 6 of hyperactivity/impulsivity
More often diagnosed in girls
More often diagnosed later
ADHD-Combined Presentation
6 or more symptoms of inattention
6 or more symptoms of hyperactivity-impulsivity
ADHD: Social and interpersonal effects
Demands on parents
Classroom management
Relationships with peers
ADHD: Course
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.
ADHD: Management
Consistency of contingencies and expectation
Parental education, support, and skill development
Behavioral therapy
Cognitive Behavioral therapy
Development of instructional support plan
IEP
Section 504
