Management of Autism Spectrum Disorder in the GP Office Dr Francoise Butel Child Development Service Community Child Heath GP Forum June 2015
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Management of Autism Spectrum Disorder
in the GP Office
Dr Francoise Butel
Child Development Service
Community Child Heath
GP Forum June 2015
Overview
What is Autism Spectrum Disorder (ASD)?
Recognition of ASD
– Red-flags / Screening
Referral Options
CDS- Autism Multi-disciplinary Assessment Clinic (AMDAC)
Funding Available
Treatment Options
WHAT IS AUTISM SPECTRUM DISORDER
What is Autism Spectrum Disorder?
Broad (umbrella) term for Autism Spectrum Disorders
– Previously - Autistic Disorder / Aspergers Disorder / PDD-NOS
Neurodevelopmental disorder first displayed in early childhood
Life long condition that affects among other things, the way an individual relates to his or her environment and their interaction with other people
“Spectrum” describes the range of difficulties that people may experience and the degree they may be affected.
Main areas of difficulty are in social communication, social interaction and restrictive or repetitive behaviours and interests
May also have: unusual sensory interests, sensory sensitivities
Incidence
1 in 160 (0.6%; 2007) according to Australian
Advisory Board for Autism
1 in 100 (1%; 2012) according to centre of disease
control and prevention in the US
Diagnoses have increased since 2000’s due to
higher recognition of symptoms
Boys:Girls 4:1
Present from birth, usually diagnosed between ages
of 2 and 5 but can be diagnosed later
DSM-5 ASD
Current Diagnosis based on Core Clinical Symptoms
Diagnostic Criteria – DSM - 5
A) deficits in social communication and interaction across multiple contexts (all 3) – Social-emotional reciprocity
Reducing sharing, failure to respond appropriately in social interactions
– Non-verbal communication Eye contact, gestures, body language, facial expression
– Relationships Adjusting behaviour, initiating friendships, lack of
interest in peers
Diagnostic Criteria – DSM-5
B) Restricted, repetitive behaviour and
interests (2 of)
– Motor movements, use of objects, speech
– Inflexible adherence to routine, distress at
change, greeting rituals
– Restricted, fixed interests abnormal in intensity or
focus
– Hyper or hypo sensitivity to sensory environment
Diagnostic Criteria – DSM-5
Symptoms must be present in early developmental period – but likely to manifest when social expectations exceed abilities
Significant impairment in social, occupational or other area of functioning
Not intellectual developmental disorder or global developmental delay but can be comorbidly diagnosed with intellectual disability
Diagnostic Criteria (DSM-5)
‘Autism Spectrum Disorder’ – With or without accompanying intellectual
impairment
– With or without accompanying language impairment
– Specified severity level: Requiring support – level 1 (noticeable impairment)
Requiring substantial support – level 2 (marked deficits)
Requiring very substantial support – level 3 (severe deficits)
Associated Features in support of diagnosis – DSM-5
Intellectual or language impairment
Poor adaptive functioning
Motor deficits (gait, clumsiness, unusual
walking)
Self-injurious repetitive behaviours
Anxiety and depression later in life
What causes Autism
ASD is a heterogeneous group with similar core
symptoms – common end neurophysiological
pathway
Likely both genetics and environment play a role
– Number of genes are associated with ASD
– Approximate 20% abnormal CGH
– Identical Twin 90% chance affected
– If sibling affected increased risk (15-20%)
Increase if male, if >1 sibling ASD, if index sibling
female.
What causes ASD
Neurophysiology / Neurobiology
– Aberrant micro-organisation of the cortex
– Abnormal functioning of synapses
– Abnormal neurotransmitters
– Abnormalities in physiological pathways:
Inflammatory, immune, redox systems)
RECOGNITION IN THE GP OFFICE
What are the Early signs of ASD ?
http://firstsigns.org/asd_video_glossary/asdvg
_about.htm
Red Flags
Does not babble or coo by 12 months
Does not gesture (point, wave, grasp etc ) by 12 months
Does not say single words by 16 months
No two-word spontaneous (not echolalic) phrases by 24 months
No response to name
Has any loss of language or social skill at any age.
Poor eye contact
Excessive lining up of toys or objects
No smiling or social responsiveness
Does not need to have all symptoms to have ASD
Does not necessary have ASD if has symptoms
Other important signs to look out for include:
Diminished eye contact or social engagement
Limited interest in social games and turn taking exchanges
Preference for being alone
Visual attention more frequently to objects than people
Limited range of facial expression
Less sharing of affect (smiling and looking at others)
Unusual hand and finger mannerisms
Walking on tiptoes
Difficulty adapting to new situations and coping with changes in
routine
Does not need to have all symptoms to have ASD
Does not necessary have ASD if has symptoms
Other important signs to look out for include (cont.)
Not orientating to name being called
Not imitating facial expression or gesture
Lack of seeking and enjoying cuddles
Less likely to look at a parent to seek reassurance and approval
Prone to intense distress
Sensory over responsive- such as being afraid of every day
sounds
Unusual mannerisms to express emotions
Extremes of temperament
Does not need to have all symptoms to have ASD
Does not necessary have ASD if has symptoms
Later indicators of ASD
Impaired ability to make friends with peers
Impaired ability to initiate or sustain a conversation with others
Absence or impairment of imaginative and social play
Stereotyped, repetitive or unusual use of language
Restrictive patterns of interest that are abnormal in intensity or
focus
Preoccupation with certain objects of subjects
Inflexible adherence to specific routines or rituals
Does not need to have all symptoms to have ASD
Does not necessary have ASD if has symptoms
Parental Concerns
Approximately 80% of parents of children with ASD notice
abnormalities in their child by 24 months
– Delays in speech and language
– Concerns with social play, sensory, motor, regulating
emotions, sleep eating or attention
Mean interval between first concerns and seeking professional
help is about 6 months
50% of parents were reassured and told not to worry
Average interval between parent first concerns and definitive
diagnosis is almost 4 years (window of early intervention lost)
Parental and /or Child Care concerns without obvious
symptoms in GP rooms can be enough to refer
SCREENING FOR ASD
GP OFFICE
Potential Screening Tools
Many ASD screening tools available
– M-CHAT
– Social Communication Questionnaire
– Early Screening of Autistic Traits Questionnaire
– OASIS (Aspergers Check-list)
What is gained by using a screening tool?
Disadvantages – specificity, cost, time to score
What do the results actually tell us?
What do you tell the parents if screening positive?
M-CHAT
Modified - Checklist for Autism in Toddlers
– https://www.m-chat.org
– Focuses on 18-30 months old
– 5-10 minutes for parents to complete (relies on parents
report
– 5 minutes scoring
– Low sensitivity in general population
many false positives
Sensitivity increases if used in clinical setting:
developmental concerns
PPV low risk 0.11 / High risk 0.6
Consider if identified concerns – either from parent or GP
Surveillance vs. Screening
Decision to refer for formal assessment should be based on
behavioural presentation and developmental history
Behavioural symptoms are expressed differently in different
children (individual variability)
Behavioural symptoms are expressed differently at different
chronological ages and mental ages
Regression (loss of language skills and / or social skills) Occurs
in approximately 20-30% of children between 12-24 months
Children with higher functioning ASD social / language
difficulties more noticeable with increase age (complexity of
skills required).
Early Diagnosis
Age of ASD diagnosis ranges from 3-6 years of age
Increasing evidence diagnosis in 2nd year life
possible
Early diagnosis – earlier behaviour-based
interventions which is associated with improvements
in core areas such as social functioning and
communication
REFERRAL FOR FORMAL ASD ASSESSMENT
GP OPTIONS FOR
Referral Options
Community Child Health
– AMDAC or MultiDisc Clinic <6 years
– CDS Paediatric Clinic: 6-10 years
– GCUH Developmental Clinic: 10-16 years
Ph. (07)5687-9183 / Fax. (07) 5687-9168
Private
– Private Paediatrician / Psychiatrist
Medicare 135 – 4 allied health diagnostic assessments
– Multidisciplinary Private Allied Health Team
Autism Multi-Disciplinary Assessment Clinic (AMDAC)
CHILD DEVELOPMENT SERVICE
AMDAC - Background
New clinic model established in 2014
“Does my child have ASD?”
Aim
– Streamline ASD diagnostic assessment then refer
to external agencies
– Early diagnosis = Early intervention
If child enters CDS through alternative pathway same ASD
assessments can still be provided by the CDS team
GP Referral into AMDAC
State on referral to CDS that parent has concern around ASD
or you have concern around ASD – and have discussed it with
family who agree with assessment
Children with “severe ASD”
– Significant concerns observed both at home / GP rooms /
child care
– Assessment to diagnosis in majority of these cases is
simpler and quicker
If information is in the referral about key ASD symptoms
Our ASD coordinator can prioritise an earlier initial
appointment for those with probable ASD
AMDAC - Process
Team: Paediatrician, Psychologist, Speech Therapist,
Occupational Therapist (+/- Social Worker)
Initial Assessment
– Parent Concerns / Informal observations of child
Formal Assessments as required
Diagnostic Formulation
Feedback with family
Referral to appropriate agencies
Post-diagnostic follow up (3 months)
Ongoing follow up in Paediatric Clinic if required.
Aim From initial Appointment to Diagnosis 2-6 weeks
Information gathered from…..
Parental interview
Informal Observations in play
ASD Specific Assessments: ADEC, ADOS, ADIR
Speech and Language Assessment
Cognitive Assessment
Adaptive Skills Assessment
General Developmental Assessment
Child-care / School visit
Family Assessment
Questionnaires: Sensory Profile, Conners, CBCL, SCQ
Even after the ideal assessment…
Some children are incredibly challenging to diagnose
– Severe and obvious dysfunction will be easier to diagnose
than mild dysfunction
– Are there enough repetitive behaviours to meet criteria of
autism or is it Social Communication Disorder.
– Executive Functioning and Social deficits are common in
ADHD
– Adverse Early Childhood Experiences / Attachment
Disorder can mimic ASD
– Anxiety – cause of symptoms or co-morbid feature of ASD
– Severe global developmental delay with impairments in
social interaction / repetitive movements: GDD, ASD or both
Whether we like it or not…
There is subjectivity in some case
Funding and support through school is determined by a diagnostic label not functional disability
The spectrum factor – when are symptoms enough to meet criteria?
Labelling – does it become a concern when children’s symptoms are mild? If a child can cope with limited assistance, should we rest with ‘quirky’ or will the child’s future improve with diagnosis and treatment?
If diagnosis could go ‘either way’, it is the diagnosing clinician / team who will make the judgement call – often in discussion with parents
Investigations
FBC / Iron Studies
UEC / LFT / CK
B12 / Folate
Microarray CGH / fragile X
+/- urine organic / amino acid / metabolic screen
+/- EEG / MRI only clinically indicated
ASD – genetic panels – not currently recommended – expensive &
do not change clinical management
AUTISM SERVICES
FUNDING AVAILABLE
Funding
Helping Children with Autism (HCWA) – (FaHCSIA)
– Australian Citizen
– Diagnosis prior to 6th birthday – use funding by 7 years
– Maximum $12000 (Max $6000 per year)
– Co-ordinated through Autism Advisor Program
Autism Queensland ph. 1800 428 847
– Service providers must be registered through HCWA
– Fee structure varies if HCWA
– Concerns / complaints
[email protected] or 1800 778581
Other Funding options
Better Access to Mental Health plan referred by GP,
paediatrician or psychiatrist – 10 visits per year, every year
requires comorbid mental health/autism diagnoses including
ADHD, sleep, anxiety etc
Enhanced Primary Care Plan– 5 Allied Health per year
Medicare (20 visits to allied health once in lifetime
– Must have treatment plan by paediatrician or psychiatrist and be referred
by same
– Plan completed prior to 13 years: used before 15 years
Carers Allowance $121.70 / fortnight + health care card
HCWA Diagram
Other Services / Supports
Queensland Education
– ECDP Play groups < 3 ½ years
– ECDP 3 ½ years to prior to school eligible
– EAP Verification within school
Autism Queensland
http://www.autismqld.com.au
Autism Gold Coast
http://autismgoldcoast.com.au
Raising Children Network
– www.raisingchildren.net.au
GP role in engaging some families
Number of families struggle to engage with
eligible services
– Family history of mental health / cognitive delays
– Stigmatism of label
– Ashamed of child’s behaviours.
GP’s assistance in understanding wider
context of parental health issues.
AUTISM TREATMENT
Treatment overview
Evidence-base for decision-making about appropriate
interventions for individual children with ASD is not robust
Current studies conclude that early and intensive behavioural
(based on learning) models of intervention are effective but
research remains limited and inconclusive
– How early / how intense the intervention is not clear
– Not all children will respond to the same treatment
http://raisingchildren.net.au
provides summary of majority of treatments
Treatment
Treatment plans should be individualised to meet child’s and
families concerns and priorities
Goal-orientated
Multi-disciplinary
– Speech – Communication skills
– Psychology – Understanding of ASD, Behavioural
– OT – Play, attention, sensory
– Paediatrician–Medication options, monitoring development
– Physiotherapist – motor co-ordination
Treatment - Alternative
To date no complementary or alternative
treatment shown to improve cores symptoms
or common co-morbidities
– Auditory intervention therapy
– Omega 3 fatty acids
– IV secretin
– Gluten / casein free diet
– Vit B6- Magnesium
Medications
Role of Medication in ASD limited
– No medication currently available to treat core
symptoms of ASD
Medications used to address co-morbidities
– Sleep – Melatonin / Clonidine
– ADHD – Stimulants / Clonidine
– Anxiety – SSRI
– Aggression / Agitation - Risperidol
Treatment
Ideal to have a structured approach to intervention
commencement
All interventions should be trialed
As part of this process potential risk and benefits of an
intervention should be made clear along with the need to try
one thing at a time
Goals of any planned intervention should be agreed in such a
way that it will be clear if goals are not being met
GP Role in assisting families to question / challenge therapy if
feel child is not making progress - $12000 funding easily
spent with minimal outcomes.
QUESTIONS ?
ASD Management in GP Office
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