Autism Flashcards
what is autism
Autism is a lifelong, developmental disability that affects how a person communicates with and relates to other people, and how they experience the world around them (National Autistic Society)
Present from early infancy/childhood but may not be detected until later
Heterogeneity of phenotypes, aetiological factors and developmental pathways (see Geschwind & Levitt, 2007)
what are the diagnostic tests ?
No objective diagnostic test. Assessment based on information from
parents (through structured interview about developmental history)
school where possible (via observation and questionnaires from teachers)
direct observation of the individual using a semi-structured ( e.g. the Autism Diagnostic Observation Schedule – ADOS)
Self-report questionnaires can be useful for adults as a screen (e.g. Autism Quotient (AQ), Ritvo Autism Asperger Diagnostic Scale (RAADS)
what are the symptoms
Difficulties with social communication (a few examples - poor eye contact, monotone voice, difficulties reading social cues like body language or gestures, difficulty with ”unwritten rules”, knowing how to start a conversation, knowing when to stop talking)
Pattern of interests/behaviours (repetitive behaviours, obsessive interests in hobbies or topics that can be all encompassing, difficulties with change, high dependence on routines and predictability)
sensory interests or sensitivity (e.g. may find lights too bright, can’t tune out from background noises like a fan going or someone else talking – these can be experienced as “physically painful”
Emotional dysregulation – experiencing very strong emotional reactions to things and difficulties with managing those feelings
Motor mannerisms
symptoms at adulthood
Adulthood
Outcome in adulthood is generally poor
Often need daily support (Centre for Disease Control, 2010; Happé et al, 2016)
Generally studies find: 75% ‘able’ (no ID) adults not living independently, low employment etc.
Bullying/Peer Victimisation – Social Vulnerability.
finding it hard to understand what others are thinking or feeling
getting very anxious about social situations
finding it hard to make friends or preferring to be on your own
seeming blunt, rude or not interested in others without meaning to
finding it hard to say how you feel
taking things very literally – for example, you may not understand sarcasm or phrases like “break a leg”
having the same routine every day and getting very anxious if it changes
what are the social/environmental risk factors
Environmental/Social factors
Diverse range of environmental and social risk factors have been identified (for example parental – maternal and paternal – age at time of conception) (Idring et al, 2014)
Non-specific factors during pregnancy (maternal metabolic conditions, weight gain) (Lyall et al, 2014)
Specific factors (maternal bacterial or viral infections) (Lyall et al, 2014)
Maternal medication use (Valproic acid use associated with increased risk of ASD (Christensen J et al, 2013)
risk factors:
Having a sibling with ASD.
Having certain genetic or chromosomal conditions, such as fragile X syndrome or tuberous sclerosis.
Experiencing complications at birth.
Being born to older parents.
what are the genetic risk factors
Genetic factors
Heterogenous, individual genetic variants associated with ASD risk
74–93% of ASD risk is heritable (Tick et al, 2016)
Autism like symptoms are observed in monogenic developmental disorders such as Rett syndrome and Fragile X (Weiner et al, 2017)
This has led to the development of mouse models for these disorders, which display some autism like characteristics
what is the treatment of autism?
Non-pharmacological treatments recommended by NICE
Psychosocial interventions
In complex cases, antipsychotics may be used
what is the support and management if autism for under 19s
Psychosocial interventions
1.3.1Consider a specific social-communication intervention for the core features of autism in children and young people that includes play-based strategies with parents, carers and teachers to increase joint attention, engagement and reciprocal communication in the child or young person. Strategies should:
be adjusted to the child or young person’s developmental level
aim to increase the parents’, carers’, teachers’ or peers’ understanding of, and sensitivity and responsiveness to, the child or young person’s patterns of communication and interaction
include techniques of therapist modelling and video-interaction feedback
include techniques to expand the child or young person’s communication, interactive play and social routines.
The intervention should be delivered by a trained professional. For pre‑school children consider parent, carer or teacher mediation. For school‑aged children consider peer mediation.
SUMMARY
Early theories blamed parents (e.g. “refrigerator mother”) but these are completely disregarded now
Dietary interventions (e.g. gluten free) receive significant following but there is no substantial evidence to suggest they are effective
Like ADHD, there is no overall objective test for ASD
Diagnostic criteria are altered and updated as we learn more through research
There is no curative treatment
ADHD and ASD are complex neurodevelopmental disorders, highly heterogeneous in nature and with poorly understood etiologies
Pharmacological treatments exist for ADHD, however are not recommended as a first line treatment in children
NICE recommended treatments for ASD focuses on non-pharmacological approaches
Vaccines for autism were retracted
