Autism Spectrum Differences:Diagnosis and Management

Neurodiversity day 2019Andrew Marshall

Clinical Leader – Child Health

Developmental Paediatrician / General and Community Paediatrician

Puketiro Child Development Team / Wellington Hospital

Overview• NZ context• Diagnostic Categories • Epidemiology• Conceptual Framework for

Neuromaturational Differences

• Early Identification and diagnosis of ASD

• Assessment process• Behavioural, Educational and

Pharmacological Management

NZ ASD Guideline

•Full Guideline •Summary Guideline •Māori Summary

ASD Living Guideline ReportsSupplementary Papers on: • Applied Behaviour Analysis 2010• Three Pharmacological Interventions aripiprazole, citalopram, and

melatonin) 2011• Supported Employment Services 2012• Gastrointestinal Problems 2013• Changes to the Diagnosis of ASD in the DSM-5 2014• Social Skills Groups for Children and Young People with ASD 2015• Cognitive Behaviour Therapy for Adults with ASD 2016• The impact of ethnicity on recognition, diagnosis, education, treatment and

support for people on the autism spectrum 2018• The effectiveness of sexuality education for young people on the autism

spectrum 2018• The effectiveness of strategies for supporting school transitions for young

people on the autism spectrum. 2019

ASD Guideline DefinitionAll display impairment in ability to:

– understand and use verbal and non-verbal communication

– understand social behaviour, which affects their ability to interact with other people

– think and behave flexibly which may be shown in restricted, obsessional or repetitive activities

• All-encompassing features, intensity may vary depending on context and emotional state (adapted from NZASD Guideline, 2008, p17)

Diagnostic Categories

Diagnostic Categories

ASD

Epidemiology

• Previously quoted: Autism = 5 per 10 000• Recent studies 1 per 1000*• Autistic Spectrum Disorders 3-4 per 1000 (some

estimates go up to 1:100 for ASD traits)• Male:female 4:1• Prevalence stable ? (apparent or real increase?)

* 21800 Japanese children prospective to 3 years 1.3 Autism + 0.7 Autistic Traits Questionnaire all children 6-14 Nova Scotia (20800) 1 per 1000Sweden 3-17yr olds 1-2 per1000 Autism, 3 per 1000 Aspergers

Why the increase ?• Changes in diagnostic criteria over time• Differences in methods used in studies• Increasing awareness amongst professionals

and the wider community• Recognition that ASD:

– occurs in association with other conditions (eg. ID, physical disability, syndromes, psychiatric conditions)

– could occur in people with high IQ– presentation can be subtle.

• The question as to whether there has been a genuine increase remains open

• Evidence for higher rates in older fathers

DSM 5 Autism Spectrum Disorder

• “The proposal asserts that symptoms of these four disorders represent a continuum from mild to severe, rather than a simple yes or no diagnosis to a specific disorder.

• The proposed diagnostic criteria for Autism Spectrum Disorder specify:1) a range of severity2) a description of the individual’s overall developmental

status (in social communication and other relevant cognitive and motor behaviors). News release, January 20 2012, APA

DSM 5 Autism Spectrum DisorderMust meet criteria 1, 2, and 3:1. Clinically significant, persistent deficits in social communication and

interactions, as manifest by the following:a. Marked deficits in nonverbal and verbal communication and

interactionb. Marked deficits in social-emotional reciprocityc. Failure to develop and maintain peer relationships appropriate to

developmental level

2. Restricted, repetitive patterns of behavior, interests, and activities, as manifested by at least TWO of the following: a. Stereotyped or repetitive speech, motor movements, or use of

objects;b. Excessive adherence to routines, ritualized patterns of verbal or

nonverbal behaviour, or excessive resistance to change;c. Highly restricted, fixated interests that are abnormal in intensity or

focus;d. Hyper-or hypo-reactivity to sensory input or unusual interest in

sensory aspects of environment

DSM 5 Autism Spectrum Disorder

3. Symptoms must be present in early childhood (but may not become fully manifest until social demands exceed limited capacities)

4. Symptoms together limit and impair everyday functioning

• Further distinctions will be made according to severity levels.

• The severity levels are based on the amount of support needed, due to challenges with social communication and restricted interests and repetitive behaviours. For example, a person might be diagnosed with ASD, Level 1, 2, or 3.

ASD 1 Mild 2 Moderate 3 Severe

Social Com

munication D

omain

Without supports in place, deficits in social communication cause noticeable impairments. Has difficulty initiating social interactions and demonstrates clear examples of atypical / unsuccessful responses to social overtures of others. May appear to have decreased interest in socialinteraction

Marked deficits in verbal and nonverbal social communication skills; social impairments apparent even with supports in place; limited initiation of social interactions and reduced or abnormal response to social overtures from others

Severe deficits in verbal and nonverbal social communication skills cause severe impairments in functioning; very limited initiation of social interactions and minimal response to social overtures from others.

ASD 1 Mild 2 Moderate 3 Severe

ASD

Behaviour dom

ain

Rituals and repetitive behaviours (RRB’s) cause significant interference with functioning in one or more contexts. Resists attempts by others to interrupt RRB’s or to be redirected from fixated interest.

RRBs and/or preoccupations or fixated interests appear frequently enough to be obvious to the casual observer and interfere with functioning in a variety of contexts. Distress or frustration is apparent when RRB’s are interrupted; difficult to redirect from fixated interest.

Preoccupations, fixated rituals and/or repetitive behaviours markedly interfere with functioning in all spheres. Marked distress when rituals or routines are interrupted; very difficult to redirect from fixated interest or returns to it quickly.

Social Communication Disorder• For those with a current diagnosis of PDD-NOS,

or who no longer fit the criteria for an Autism Spectrum Disorder (e.g., they do not have the RRBs), it is envisaged that their diagnosis should move to that of the new diagnosis of SCD.

• Some research indicates that of those currently diagnosed with Asperger’s; under the new criteria... – between 16 -75% will no longer fit this diagnosis, but

SCD instead.

Common Features of Autism (not part of DSM 5 diagnostic criteria)

• Motor Clumsiness • Anxiety • Behaviour difficulties

including aggression • Sleeping and Eating

issues • Auditory Processing

Disorder • Attentional problems

Conceptual Framework for Neuro-Maturational Differences

Behaviour

Cognition

Concept 1:Deficits are in a continuum with the normal rangeMedical model diagnoses “disorder” for those outside

typical range (2 SD) – better viewed as differences

Conceptual Framework for Neuro-Maturational DifferencesConcept 2:

Neuromaturational Difficulties OverlapClumsiness, attention deficits, hyperactivity, social difficulties, anxiety and learning disabilities often cluster togetherAlways consider the Environment (Abuse / Neglect / Parental Mental Health) as potent contributors or causes of all these symptoms

Conceptual Framework for Neuro-Maturational Differences

Genes

ADHD DAMP DCD ASPERGER SPEC LEARN DISABILITY

ANXIETY

ODD/CD

Concept 3: Cause is largely polygenic

Conceptual Framework for Neuro-Maturational Differences

• All these conditions share genetic predisposition

• Autism twin studies 70-80% genetic

• 50% monozygotic concordance, 5% dyzygotic concordance

• Siblings 50-fold risk compared to population risk

• Multiple interacting genes• Family history invariably present

• In 2001, 4.7 % of the workforce and 3.65 % of the male NZ European workforce was employed in the IT industry

• In children with Autism, 8/26 = 31% Dads worked in IT and telecommunications (in 2 yr local cohort in 2003-04 of 68)

• Evidence that engineering, science and accountancy are over-represented in fathers of children with Autism

• Evidence of a ‘peak and trough” cognitive profile in Autism relatives (better rote-learned and spatial abilities and difficulties with executive function)

Concept 3: Cause is largely polygenic

*

Brain Formation

• Different parts of the brain are activated differently in people with autism– Social “nodes”– Reward activation– Language processing– Connectivity

• Long-distance underconnectivity e.g. between lobes of the brain

• Local hyperconnectivity

Environment/Gene Interaction

NO PROBLEM

PROBLEM

Concept 4: Environment plays a significant part in the manifestations of the disorders

Social Model of Disability:

An impairment is only disabling if the environment is not adapted to it (WHO)

Predictors of Outcome

– Not MMR– Leaky gut → dietary

peptides acting as neurotransmitters?

– Viral infections– In utero infections– Maternal distress in

pregnancy– Congenital

Measles/Rubella– Metabolic conditions:

untreated PKU

Environmental Triggers?

• Non-verbal Cognitive Level

• Level of social interaction• Level of communication• Early Intervention

provision

Overlap ASD and Transgender –goes both ways

• Start with ASD: CBCL self-report item “wishes to be opposite sex”:

–4-5% of ASD adolescents will answer yes vs controls* 0.7% (compare with NZ/Netherlands rates of 1-1.5% gender diversity and 1 in 3000 transgender) *referred to clinic with non- ASD neurodevelopmental issues

• or start with Gender diverse population and screen for ASD:

–40-60% in clinical range in social responsiveness scale–Amsterdam clinic diagnostic interviews 8% vs population 1%–Birth assigned males higher rates–RCH Melbourne transgender service 15% clients dx ASD prior, 8.3% suspected ASD

Early Diagnosis –Why is it important?• A child’s developmental

course is determined genetically, in combination with their environment

• Children are “wired” to learn, and will do so unless in a deprived environment

• Evidence that Early Educational Intervention improves long-term outcome

Early Diagnosis - Why is it important?• Parental concerns about their child’s development need

recognition/validation• Early intervention does not require a diagnosis• However, a diagnosis serves as a “short-hand” to direct

the most appropriate action at the best time• A correct diagnosis empowers by enabling understanding

of needs and what the future may hold. It defines both strengths and difficulties

• Beware the dangers of a diagnosis – restricting future possibilities, reinforcing society perception of normal versus abnormal, discrimination of those with differences

• Accurate diagnosis must be timely, high quality and collaborative

Referral indicationsWhat are the major problems at home and at preschool/school?

• Concentration / focus• Hyperactivity• Slow development• Tearful / no friends• Aggressive / no friends• Clumsy

• ADHD• Specific Learning

Difficulty (SLD)• Generalised Learning

Difficulty (ID)• Autism Spectrum • Anxiety• DCD/Dyspraxia

Flowchart of identification and assessment process for children (aged <16) who may have ASD (page 50 NZ ASD Guideline)

CDT Wellington MDT Assessment

Aims of AssessmentComprehensive diagnostic assessment should:

– Identify health needs (includes differential diagnosis, aetiology and provision of genetic advice)

– Promote understanding and agreement about potential developmental implications, so that effective strategies can be put in place

– Address needs of individual and family, give confidence to provide for needs and look after own needs.

Components of Assessment

• Developmental and family history• Observations across more than one setting• Cognitive / formal developmental assessment • Communication assessment• Mental health• Behaviour. • Needs and strengths of all family members• Physical examination

Investigation and Management• Formal Audiology• CGH microarray, Fragile X,

TFTs, urine metabolic screen– FBC and iron studies if restricted

diet, lead if Pica, full metabolic workup if regression (except for isolated language regression)

• Child Development Team – VNDT and/or SLT and/or

Psychologist and/or OT • Special Education Early

Intervention Team – Speech Language Therapist,

Early intervention teacher, Psychologist

• NASC– Home Help and Respite Care

• Behaviour Management Service (Explore)– Behaviour management

assessment, support and advice for children and adults with intellectual disability or autism

– Parent training / education (ASD+, TIPS, Teenlife etc)

• WINZ– Child Disability Allowance– Disability Allowance (means tested)

• Paediatric Follow-up– Advocacy, anticipatory

Guidance, medications where required

• Service organisations (Autism NZ, Altogether Autism etc)– Parent support– Information sources

Treatment and Management of ASD

• What is “Good” treatment of ASD?– Encourages functional development and skills

for independent living– Minimises stress on person with ASD and

family– But first step is comprehensive assessment

Treatments - The Advice• Treatment programmes should be individually designed• Structured educational/daily living programmes should be

considered; e.g. visual cues, adapting environment increases understanding, reduces distress

• Interventions should take account of the core difficulties of autism (eg, communication, social skills and stereotyped and ritualistic behaviour)

• Co-morbid conditions should be treated• Effective communication strategies are often the most

successful means of reducing difficult or disruptive behaviours • Family-centred treatment approaches result in greater

generalisation and maintenance of skills.

Behavioural management

• Consistent routine• Visual prompts to aid understanding of

expectations, transitions and sequences• Modification of environment to compensate

for sensory overload / overstimulation

Difficult behaviour in Autism:

• Anxiety – often social anxiety

• Communication• Sensory

(seeking/avoiding/overload)

• “Hard-wired” / intrinsic

• Obsessive repetitive behaviour

• Aggression and self harm

• Irritability• Hyperactivity• Social withdrawal or

phobiasMedication trials can only be planned and managed effectively if the cause of the target behaviour is known

Causes: Consequences:

Principles and Practice of Pharmacotherapy in ASD

• There is no medication to treat autism, only medications to manage some symptoms/associated behaviours

• Environmental manipulation and behavioural / educational management always the first step and always used in partnership with medications

• Start low, go slow, one change at a time, monitor response• Medication trials with behavioural targets have high placebo

response• Plan to withdraw medication in future to assess continued

benefits and side effects.• Everything with benefits has risk• These medications are evidence-based, but used ‘off label”• Use the internet cautiously

Medications• Stimulants

– Methylphenidate • (Ritalin/Rubifen)

– Dexamphetamine• Clonidine/Atomoxetine• Atypical Antipsychotics

– Risperidone• SSRI antidepressants

– Fluoxetine (Prozac)– Citalopram (Cipramil)

• Hyperactive, impulsive behaviour and short attention span

• Mixed profile• Aggressive, disturbed,

anxious behaviour

• Obsessive compulsive, anxious behaviour

Medications• Melatonin

• Omega 3• Anticonvulsants• Nutritional support

– Vitamins– Minerals– Restrictions

• Sleep

• General brain enhancement?• Epilepsy (occasionally

behaviour)

Summary• ASD often presents as a social communication

and behavioural difficulty in young children, but can be recognised throughout life

• Awareness of the genetic and environmental contributors allows earlier recognition of risk factors

• The earlier the diagnosis is made and appropriate interventions are put in place the better the outcome

Questions?