Autism Flashcards
Definition of autism spectrum disorder (ASD)
Neurobiological disorder with onset in early childhood
- highly variable with each child, except for the key features
Key features are
- social communication impairment
- social interaction impairment
- repetitive/ritualized behaviors
- may present with intellectual disability but IS NOT diagnostic*
- may present with hyper intelligence in one specific area/task, but IS NOT diagnostic*
Is there a diagnositic biomarker for ASD?
NO
Diagnosis is solely based on review of history and direct observation of child’s behavior
DSM-5 specific criteria for ASD
All of the following must be present:
1) persistent defects in social communication and social interaction at least 2 separate settings. This is determined by defects in the following 3 bullet points:
- social-emotional reciprocity (cant produce agreeable or enjoyable communication due to lack of social awareness and thoughts of others)
- nonverbal communication behaviors (difficulty coordinating verbal communication and nonverbal aspects of communication (cant sync the two))
- developing, maintaining and understanding relationships (both social and intimate)
2) Restricted, repetitive patterns of behavior, interests or activities demonstrated by at least 2 of the following:
- stereotyped/repetitive movements/use of objects or speech
- insistence on sameness/unwavering adherence to routines
- highly restricted/fixated interests that are abnormal in magnitude
- increased or decreased response to sensory input or unusual interest in sensory aspects of environment
- most often it is an excessive overreaction to sensory stimuli (cries/screams at loud noises or flashing lights)*
3) symptoms must impair function in society and are present in early development. Also must not be better explained by intellectual disabilities
Etiology of ASD
1:59 peripheral have ASD
NO racial or ethnic differences in ASD
Numerous genes involved in brain development and synaptic function
Caused by mutations that can be inherited or occur de novo during development
risk factors:
- older maternal or paternal ages
- maternal obesity
- short time between pregnancies
- premature birth
- rubella/cytomegalovirus prenatal infections
- being male (4:1)
- genetics twins have higher rates than non-twins
What genetic syndromes are associated to risks of ASD?
Fragile X
Down syndrome
Smith-lemli-opitz
Rett syndrome
Angelmann
Timothy
Joubert
Symptoms of ASD
Decreased responsiveness
- often parents will say they were “easy babies”
Poor eye contact when they try to talk with you
Unusual use of objects
Doesn’t smile when making contact with people
Note: symptoms before age 12 months = not reliable predictive of later ASD
What parts of the brain are changed in ASD according to animal models?
Overall brain volume increases
Neuronal cell density in limbic system, cerebellum and frontotemporal regions increases
Differential diagnosis of ASD
Language disorders
Hearing loss
Social anxiety
Stereotypic movement disorder
ADHD
OCD
Landau kleffner syndrome
Comorbid conditions with ASD
50% = intellectual disabilities
- mild to severe
- tend to be exceptional in one category and very poor in everything else
Language impairments
- can be nonverbal
70% = GI problems at some point
35% = proned to epilepsy
40% = anxiety disorders and mood disorders in the future
50-80% = sleep disorders (insomnia, night walking, delayed sleep onset)
- studies show decreased baseline melatonin secretion
ADHD is often met with full criteria
Can develop eating disorders since they are very picky with what they want to eat.
Secondary Disruptive behaviors often occur also but most common is self-harm
“Stereotypic” movements
Repetitive movements that are abnormal socially
- hand flapping, body rocking while standing, finger linking, etc.
Seen often in ASD
When do you screen for ASD?
18-24 months
- can be earlier if there is an increased risk of the child having it (already showing obvious symptoms or a sibling has already been diagnosed)
Uses the MCHAT-R/FU
- 20 item parent report measure with additional parent measure, with additional parent interviews
Scores for MCHAT-R/FU
Low risk = 0-2
- if the child is younger than 24, screen again when they hit 2 years. If they get this range again or are already older than 2 when they got this score, there is almost no chance they ASD
Medium-risk = 3-7
- need follow-up MCHAT
- screens positive for ASD if both MCHATs are 3 or higher or the follow up is 2 or higher.
- if the follow-up MCHAT is 0 or 1 = no ASD
High risk = 8-20
- just has ASD, no reason for follow up test
Assessment and actual diagnosis of autism requires what?
Medical evaluation and assessment of the child’s cognitive/language and adaptive functions
- can occur in a single multidisciplinary visit or through a series of visits
Occupations who can make an ASD diagnosis
- psychiatrists
- psychologists
- neurologists
- neurodevelopment disability specialists
- developmental-behavioral pediatricians
Non pharm Treatment of ASD
Developmental and educational programming accommodations are the #1 way to treat
Also intensive behavioral therapy shows great results and is first line
- Applied behavioral analysis (ABA)
Other options
- speech and language therapy
- visual supports
no one is the same and the treatment must be tailored individually
Pharmacology of treatment of ASD
Only really for symptoms of ASD if they present
- risperidone = irritability and aggression
- SSRIs for anxiety
- stimulants or SNRIs for hyperactivity and inattention
