Autism Flashcards
Deficits in social-emotional reciprocity
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
Deficits in nonverbal communicative behaviours used for social interaction
Poorly verbal and nonverbal communication
Abnormalities in eye contact and body language
Deficits in understanding and use of gestures
Total lack of facial expressions
Deficits in developing, maintaining, and understanding relationships
Difficulties adjusting behaviour to suit various social contexts
Difficulties in sharing imaginative play or in making theories
Absence of interest in peers
Stereotypes or repetitive motor movements, use of objects, or speech
Simple motor stereotypes
Lining up toys or flipping objects
Idiosyncratic phrases
Insistence on sameness, inflexible adherence to routines or ritualized patterns or verbal nonverbal behaviour
Extreme distress at small changes
Difficulties with transitions
Rigid thinking patters
Greeting rituals
Need to take same route or eat food every day
Highly restricted, fixated interests that are abnormal in intensity or focus
Strong attachment to or preoccupation with unusual objects
Excessively circumscribed interest
Hyper or hyporeactivity to sensory input or unusual interests in sensory aspects of the environment
Apparent indifference to pain/temp
Adverse response to specific sounds or textures
Excessive smelling or touching of objects
Visual fascination with lights or movement
Increased diagnosis of ASD
1 in 68 compared to 1 in 88 in 2 years
Increase could be due to less stigma. more understanding of the disorder
Profound autism
Severly affected children, non-verbal, inflicting self-harm, need around the clock care
Neurodiversity
High functioning people with autism that don’t need medical attention
Cause of autism
Underlying cause is unknown
-Current evidence proposes genetic and or environment
It is shown that older theories like vaccines and refrigerator mothers have no statistical link to increased risk of autism
Valproic acid during pregnancy
Anti-epilieptic
Chronic treatment with VPA produces ASD symptoms in rodents
3-fold increase in risk of autism in children exposed to VPA
Cerebellar injury at birth
Largest environmental risk factor is cerebellar injury at birth: 36x increased at risk
Cerebellum and forebrain are bidirectionally linked in an orderly mapping
Cerebellum may guide the maturation of remote non-motor neural circuitry and influence cognitive development.
Genetic risks
Largest increase in risk for ASD comes from genetic factors
Strong correlation between proportion of genome shared and risk for ASD (NB-Risk is NOT definite certainty)
Studies in dizygotic twins (50% of DNA shared) and monozygotic (100% of DNA shared) reported heritability rates of 38–90%. The remaining variation in the phenotype (ASD) is accounted for by environmental or epigenetic factors
Also increased risks for other relatives of people with ASD.
Relatives display more autistic traits than the general population (for instance measured with the Autism Spectrum Quotient (AQ))
Genetic mutations and background can be a generic risk
Some rare monogenic mutations have high risk for ASD regardless of the genetic background of the person & their parents.
For other cases of ASD, it is thought that a combination of different (lower risk) genetic mutations together with the genetic background (common variance) determine the overall risk.
4-5% of ASD cases are monogenetic (e.g. fragile X syndrome (FMR1 gene), Rett syndrome (MECP2 gene))
