Autism Spectrum Disorders Flashcards
List the generalized diagnostic criteria for autism spectrum disorder.
- Three required criteria for impairments in social communication and interactions
- No required age except “early”
- There is significant impact on life
Describe the three core impairments in children with autism.
- Reciprocal social interactions
- Social uses of communication
- Having limited range of interests, associated with repetitive behaviors
Autism: Epidemiology
o Increasing prevalence due to changing definitions
o 1/88 children; average age of diagnosis is 3.1 years
o 4-5x more males than females
o Risk factor = advanced paternal age
o High associated cost of care
Autism: pathophysiology
= multiple interacting factors
Genetics
• Singe gene: Fragile X syndrome, Rett syndrome
• Chromosomal deletion: Williams syndrome
• Chromosomal duplication: Potocki Lupski syndrome and Down Syndrome
Epigenetics
Prenatal environment: Fetal Alcohol Syndrome, maternal rubella, maternal CMV, maternal exposure to teratogen thalidomide
Diffuse brain dysfunction
Postnatal nurturing, nutrition, experience
• Malnutrition, abuse, neglect
• Exposure to toxic metabolites
Autism: Clinical Presentation
Social characteristics:
• Impaired eye contact, use of gestures to interact with others
• Impaired peer interactions
• Lack of “sharing” of experiences
• Lack of “give and take” in social relationship
Communication
• Delay in development of spoken language without compensating by gesture or mime
• Impaired conversation (reciprocal)
• Echolalia, you/I pronoun reversals, jargon
• Lack of make-believe or pretend play
Behavioral characteristics
• Passion/obsession with one or very few things
• Nonfunctional routines or rituals
• Hand flapping, toe walking, finger movements
• Persistent preoccupation with wheels, doors, switches
Indicators for autism evaluation
o No single meaningful words by 16 months
o No communicative gestures by 12 months
o No flexible 2 word phrases by 2 years
o Any loss of any social or language skill at any age
Autism: prognosis
o Most will stay on the spectrum
o Long-term: depends on level of impairments, but generally poor
o Best predictor: level of adaptive behavior
Recognize the medical etiologies of autism and intellectual disability, including Fragile X syndrome, Rett syndrome and tuberous sclerosis.
Fragile X syndrome:
o Mutation in FMR1 gene
o Most common inherited cause of intellectual disability
o Long narrow face, prominent ears, large testes in adolescent males
o Important to identify because a heritable disorder
Rett Syndrome
o Mutation in MECP2 gene
o Majority are girls
o Profound loss of skills; not neurodegenerative
o Classical phenotype (low muscle tone, characteristic hand grasping) by 2-3 years
Tuberous sclerosis
o Mutation in TSC1 or TSC2 genes
Macrocephaly
o Associated with mutation in PTEN gene
Williams Syndrome
o Characteristics: hypopigmented, stellate pattern in eyes, periorbital fullness, broad smile, cardiac defects
NOTE: majority of children with autism do not have identifiable genetic abnormalities
List the treatments available for autism
Multidisciplinary interventions as soon as diagnosed
o Speech therapy = promote functional communication
o Occupational therapy = improve motor skills
o Educational interventions with lots structure and low student: teacher ratio
o Social skills training
o Education and support of parents
Early intensive behavioral intervention
o Evidence based
o 20-35 hours/week of 1:1 therapy
Behavioral therapy
o Reduce maladaptive behaviors; reinforce adaptive behaviors
o Important for kids exhibiting anxiety, aggression, self-injury, hyperactivity, impulsivity, or sleep disorders
Medical therapy
o Atypical anti-psychotics risperidone and aripiprazole = treat challenging and repetitive behaviors, but lots side effects so limited use
o Melatonin = treat sleep disorders
