[13] Autism Flashcards
What is autism?
Autism is a pervasive developmental disorder
What is autism characterised by?
- Impairment in social interaction
- Impairment in communication
- Restricted, stereotyped interests and behaviours
What can the aetiology of autism be divided into?
- Prenatal
- Antenatal
- Postnatal
What are the pre-natal factors in the development of autism?
- Genetics
- Parental age
- Drugs
- Infection
What is the role of genetics in the development of autism?
There is a complex polygenetic relationship, with a number of chromosomes implicated, such as chromosome 7
There is a significantly increased risk of autism associated with genetic syndromes such as fragile X syndrome and tuberous sclerosis
How is parental age involved in the development of autism?
A study found that women who are 40 years old have a 50% greater chance of having a child with autism compared with women 20-29 years
How are pre-natal drugs involved in the development of autism?
Babies who have been exposed to certain medications in the womb have a greater risk of developing autism, including sodium valproate in particular
How is pre-natal infection involved in the development of autism?
Prenatal viral infections, e.g. rubella, increase the risk of autism
What are the antenatal factors in the developmen of autism?
- Obstetic complications such as hypoxia during childbith
- Reduced gestational age at birth (before 35 weeks gestation)
- Very low birthweight
What postnatal factors are involved in the development of autism?
- Toxins such as lead and mercury may increase the risk of autism
- Pesticide exposure may affect those genetically predisposed to autism
What % of the population are affected by autism?
1.1%
What are the risk factors for autism?
- Male gender
- Genetics/family history
Advancing parental age - Parental psychiatric disorders
- Prematurity
- Maternal medication use
What can the symptoms of autism described in the ICD-10 be divided into?
- Asocial features
- Restricted behaviour
- Impaired communication
What are the asocial symptoms of autism?
- Few social gestures, e.g. waving, nodding, and pointing at objects
- Lack of eye contact, social smile, response to name, interest in others, emotional expression, sustained relationships, and awareness of social rules
What are the behaviour restriction symptoms of autism?
- Restricted, repetitive, and stereotyped behaviour, e.g rocking and twisting
- Upset at any change in daily routine
- May prefer the same foots, insist on the same clothes, and play the same games
- Obsessively persued interests
- Fascination with sensory aspects of environment
What are the communication symptoms of autism?
- Distorted or delayed speech
- Echolalia
What is echolalia?
Repetition of words
What % of patients notice signs of autism by 12-18 months of age?
50%
What age should the onset of autism occur before?
3
Can autism be diagnosed if the onset is after 3?
There is an atypical autism that can be diagnosed after 3
Other than those described in the ICD-10, what are the features of autism?
- Intellectual disability
- Temper tantrums
- Impulsivity
*
Do all patients with autism have intellectual disability?
No - if you include all on the autistic spectrum, the majority will not have an intellectual disability
What conditions are associated with autism?
- Epileptic seizures
- Visual impairment
- Hearing impairmnt
- Infections
- Pica (eating inedible objects)
- Constipation
- Sleep disorders
- Underlying medical conditions
- Psychiatric conditions
What underlying medical conditions are associated with autism?
- PKU
- Fragile X
- Tuberous sclerosis
- Congenital rubella
- CMV
- Toxoplasmosis
What psychiatric disorders are associated with autism?
- Hyperkinetic disorder
- Depression
- Bipolar affective disorder
- Anxiety
- Psychosis
- OCD
- DSH (deliberate self-harm)
What are the ICD-10 criteria for the diagnosis of autism?
- Presence of abnormal or impaired development before the age of three.
- Qualitative abnormalities in social interaction.
- Qualitative abnormalities in communication.
- Restrictive, repetitive and stereotyped patterns of behaviour, interests and activities.
- The clinical picture is not attributable to other varieties of pervasive developmental disorder.
What investigations are done in autism?
- History
- MSE
- Full developmental assessment
- Hearing tests if required
- Screening tools, including CHAT (CHecklist for Autism in Toddlers)
What is included in a full developmental assessment?
- Family history
- Pregnancy
- Birth
- Medical history
- Developmental milestones
- Daily living skills
- Assessment of communication, social interaction, and stereotyped behaviours
What are the speech and hearing developmental milestones?
- 3 months - turns towards sound, quietens to parent’s voice
- 6 months - double syllables, e.g. ‘adah’
- 9 months - says ‘mama’ and ‘dada’
- 12 months - knows and responds to own name
- 12-15 months - knows about 2-6 months, understands simple commands
- 2 years - combines 2 words
- 3 years - talks in short sentences (3-5 words), asks ‘what?’ and ‘who?’ questions
- 4 years - asks when, how, and why questions
What are the social behaviour developmental milestones?
- 6 weeks - smiles (refer at 10 weeks if not smiling)
- 6 months - enjoys interaction
- 1 year - waves bye
- 2 years - interested in other children
- 3 years - make believe play
- 4 years - plays with other children
What are the differential diagnoses of autism?
- Asperger’s syndrome
- Rett’s syndrome
- Childhood disintergrative disorder
- Learning disability
- Deafness
- Childhood schizophrenia
What is Asperger’s syndome?
A condition similar to autism, with abnormalities in social interactions and restricted, stereotyped behaviours. However, unlike autism, there is no impairment in language, cognition, or intelligence (IQ normal).
Is Asperger’s syndrome more common in girls or boys?
Boys
What is Rett’s syndrome?
A severe, progressive disorder starting in early life. Results in language impairment, repetitive stereotyped hand movements, loss of fine motor skills, irregular breathing, and seizures
Is Rett’s syndrome more common in girls or boys?
It is almost exclusively seen in girls
What gene has an important role in Rett’s syndrome?
MECP2
What is childhood disintegrative disorder (Heller’s syndrome)?
A syndrome characterised by two years of normal development, followed by a loss of previously development learned skills (language, social, and motor).
It is also associated with repetitive, stereotyped interests and behaviours, as well as cognitive deterioration
When can a diagnosis of autism be reliably made?
Age 3
Who should make a diagnosis of autism?
Specialist
What are local autism teams?
Community-based MDTs including paediatricians, psychiatrists, educational psychologists, speech and language therapists, and occupational therapists
What should local autism teams ensure that all those diagnosed with autism have?
A key worker to manage and coordinate treatment
When can CBT be used in the management of autism?
If the child has verbal and cognitive ability to engage, and is motivated
What interventions for life skills can be made in autism?
- Developing daily living skills
- Developing coping strategies
- Enabling access to education
- Enabling access to community facilities, such as those related to leisure and sports
What issues do you need to ensure are addressed in autism?
All physical health, mental health, and behavioural issues
What support should be offered to families and carers of those with autism?
Personal, social, and emotional support
Give an example of a self-help available in autism?
The National Autistic Society
What might be considered in terms of education for those with autism?
Special schooling
What can be considered for sleep disorders that persist despite behavioural interventions?
Melatonin
What interventions can be employed for the core feature of autism?
Social-communication intervention, e.g. play-based strategies
Should pharmacological agents be used as an intervention for the core features of autism?
No
What interventions can be employed for challenging behaviour in autism?
- Treatment of co-existing physical disorders, mental health problems, and behavioural problems
- Modification of environmental factors
- Antipsychotics
What co-existing physical disorders might cause challenging behaviour in autism?
- Epilepsy
- Constipation
What co-existing mental health problems might cause challenging behaviour in autism?
- Anxiety
- Depression
What co-existing behavioural problems might cause challenging behaviour in autism?
ADHD
What is first line in the management of challenging behaviour in autism?
Modification of environmental factors which initiate or maintain challenging behaviour
What aspects of the environment may need to be modified in the management of challenging behaviour?
- Lighting
- Noise
- Social circumstances
- Inadvertent reinforcement of challenging behaviour
Give an example of an antipsychotic that can be used in managing challenging behaviour in autism
Risperidone
When should antipsychotics be considered in the management of challenging behaviour in autism?
When psychosocial interventions are insufficient, or if the features are severe
Why does the use of anti-psychotics in autism require careful consideration?
As there are significant side effects, and metabolic monitoring is required
