What are the diagnostic criteria for Autism?
Neurodevelpmental disorder characterized by:
- Persistent deficits in social communication and social interaction (must meet all 3 requirements)
- Restricted, repetitive patterns of behavior, interests, or activities (must meet 2)
Sx must be present in early developmental period
Sx must cause significant impairments in social, occupational, or other important areas of current functioning
Not better explained by intellectual disability or global developmental delay
**Not normal but delayed social skills; abnormal social skills
When are first symptoms of autism commonly noticed?
First 2 years of life
(although may not be really noticed until retrospectively thinking about it)
What are broad subcategories of deficits in social communication and social interaction required to meet the criteria for autism?
- Social-emotional reciprocity
- Nonverbal communication behaviors
- Developing, maintaining, and understanding relationships
What are broad subcategories of restricted, repetitive patterns of behavior, interests, or activities.
How many do you need to diagnose autism?
Need at least 2 (currently or by history)
- Stereotyped or repetitive motor movements
- Insistence on sameness
- Highly restricted, fixated interests that are abnormal in intensity or focus
- Hyper or hypo-reactivity to sensory input or unusual interests in sensory aspects of the environment
DETAILS: What are subcategories of deficits in social communication and social interaction required to meet the criteria for autism?
- Abnormal social approach
- Failure of normal back and forth conversation
- Reduced sharing of interests, emotions, or affect
- Failure to initiate or respond to social interactions
Nonverbal communication behaviors
- Abnormal eye contact
- Abnormal body language
- Deficits in understanding or use of gestures
- Total lack of facial expressions and nonverbal communication
Developing, maintaining, and understanding relationships
- Difficulties adjusting behavior to match social expectations
- Difficulties in making friends
- Deficits in imaginative play
- Lack of interest in peers
DETAILS: What are subcategories of restricted, repetitive patterns of behavior, interests, or activities. How many do you need to diagnose autism?
Need at least 2 (currently or by history)
Stereotyped or repetitive motor movements
- Simple motor stereotypies (hand flapping, finger flipping)
- Lining up toys
- Flipping objects
- Echolalia (immediate and delayed)-- immediately repeating or using language they've heard in the past (whole group of words said in a certain way; not spontaneous)- jingles, movie lines...
Insistence on sameness
- Extreme distress at small changes
- Difficulties with transitions
- Rigid thinking patterns
- Ritual behaviors
- Insistence on specific routines (route to school, same menu daily)
Highly restricted, fixated interests that are abnormal in intensity or focus
- Strong attachment to specific and unusual items (i.e. serial numbers on Pokemon cards rather than the character)
- Excessively circumscribed or preservative interest
Hyper or hypo-reactivity to sensory input or unusual interests in sensory aspects of the environment
- Indifference to pain or temperature
- Excessive interest in smell, taste, feel, or sight of objects
- Adverse response to specific sounds, textures or other sensory experiences
What are some modifying specifiers of autism?
- With/without accompanying intellectual impairment
- With/without accompanying language impairment
- Associated with a known medical or genetic condition or environmental factor
- Associated with another neurodevelopmental, mental, or behavior disorder
- With catatonia
What are some common medical/genetic conditions or environmental factors associated with autism?
- Rett syndrome
- Fragile X syndrome
- Down syndrome
- Fetal alcohol syndrome
- Very low birth weight
- In utero exposure to tobacco
What are some common neurodevelopmental, mental, or behavioral disorders associated with autism?
- Developmental coordiantion disorder
- Disruptive behavior
- Impulse-control or conduct disorders
- Tics or Tourette's disorder
- Feeding disorder
- Elimination disorder
- Sleep disorder
What are the criteria for the catatonia specifier of autism?
Dominated by 3+ of the following:
- Waxy flexibility
- Mannerisms stereotypy
- Echolalia and echopraxia
Severity levels of autism?
Level 3: Requiring VERY substantial support
Level 2: Requiring substantial support
Level 1: Requiring support
What is the prevalence of autism? More common in boys/girls?
- 1/68 with ASD (8 yo)
5x more common in boys
- 1/42 boys
- 1/189 girls
Greatly increasing over time (1/150 in 2000)
What is the prevalence of autism by race?
Not really a significant difference
- 1/63 whites
- 1/81 blacks
- 1/81 asians/pacific islanders
- 1/93 hispanics
Earliest diagnosis of autism clinically? By parents?
Sometimes may be detected as early as 18 mo or younger, BUT USUALLY detected by 24 mo by an experienced clinician
- 1/3 to 1/2 of parents recognize problem by 12 mo
- 80-90% recognize a problem by 24 mo
Some children appear to develop normally until 18-24 mo and then regress
Red flags for autism?
- No response to name by 12 mo.
- No pointing for interest by 14 mo
- No pretend play by 18 mo.
- Avoiding eye contact
- Preferring to be alone
- Difficulty understanding feelings
- Delayed speech and language
- Getting upset by minor changes
- Obsessive interests
- Flapping, rocking, spinning….
- Unusual reactions to sound, smell, taste, feel or look
Characteristics of typical infants?
- Make good eye contact
- Imitate words and actions
- Use simple gestures
- Show interest in social games (peek-a-book, pat-a-cake)
Very social creatures; can't really get them to stop (won't stop for a while and then start back up)
What is joint attention? When is it seen in infants?
- Demonstrated at 9-12 mo by typical children
- First, catch the child's attention by calling the child's name
- Then, draw the child's attention to a distant object
- The child should turn his/her head, following your gaze
Steps to take to diagnose autism in primary care physician's office?
- At every visit
- Process of recognizing who is at risk for delay
- Use of a standardized tool to aid in identifying a developmental disorder
- Routinely at 9, 18, and 30 mo
- Routinely at 18 and 24 mo
- Evidence-based process supports the use of the M-CHAT-R/F
Diagnostic Tools for Autism?
Additional Developmental Assessments?
Gold standard: ADI and ADOS
- Direct and semi-structured observation/interaction with the child, focusing on the core symptoms of the disorder
Rating scales: CARS, GARS, SCQ
- Completed by parents and teachers
- Screening vs. diagnosis
Additional Developmental Assessments
- Speech, language, and communication
- Intellectual functioning
- Adaptive behavior
- Fine motor
- Sensory sensitivity
Seen in normal video?
- Eye contact
- Positive interaction in social situation
- Shares interest
Seen in autism video?
- Doesn't hand jar to people who can help (bubble video)
- Using mom's hand as a tool for book reading rather than looking/asking her (book video)- BIG DEAL; BIG RED FLAG
Medical assessments done in autism diagnosis?
- Formal audiologic evaluation
- Lead screening (pica)
- Wood’s lamp examination (tuberous sclerosis)
- Dysmorphology evaluation
- Genetic testing
- Metabolic testing
Treatment for autism (broad categories)?
- Educational Intervention
- Behavioral Therapies
What are some Educational Interventions that can be taken for kids with autism?
Physician's role is to advocate and support!
- ASD is a qualifying condition under the Individuals with Disabilities Education Act (IDEA)
--- a federal law that guarantees a “free and appropriate public education” to all children with disabilities from 3-21 years old.
- Public Law 99-457 (IDEA, 2007) covers early intervention programs from birth through two.
- Section 504 of the Rehabilitation Act of 1973 (Rehabilitation Act, 2007) prohibits discrimination against students with disabilities in their education, vocational education, post-secondary education, employment, etc.
Some behavioral therapies for autism?
- Applied Behavior Analysis (ABA)
- The Early Start Denver Model (ESDM)
- Pivotal Response Therapy (PRT)
- Verbal Behavior Therapy
- Relationship Development Intervention (RDI)
- Training and Education of Autistic and Related
- Communication Handicapped Children (TEACCH)
- Social Communication/ Emotional Regulation/
- Transactional Support (SCERTS)
Some medications for autism?
- Target symptom oriented
- No agents address core features
- Associated conditions: ADHD, Disruptive behavior, Anxiety
Is there a genetic risk factor for autism? Evidence?
- 36-95 % of identical twins are concordant for an ASD
- Up to 31 % of fraternal twins are concordant for an ASD
- Risk to subsequent child is 2-18 %
- If two siblings have ASD, subsequent risk is 35-50%
- 10% of people with ASD have specific genetic or chromosomal conditions, such as Fragile X, tuberous sclerosis
- Calculated heritability of ASD = 90 %
Non-genetic risk factors for autism?
- Older parents (EITHER mother or father)
- Premature or VLBW babies are at a slightly increased risk