1. COMPLEXITIES OF AUTISM SPECTRUM DISORDER
DR MARIAN PERKINS

2. OVERVIEW Specialist Outpatient Neuropsychiatric Service in Oxon
Diagnostic Challenges
Complex Presentations
Treatments
Pharmacotherapy

3. AUTISM SPECTRUM DISORDER
Neurodevelopmental condition defined by number of behavioural features
DSM-5 (May 2013) impairments in areas of functioning; social communication and social interaction as well as restricted, repetitive patterns of behaviour, interests or activities
Symptoms present in early developmental period BUT may not fully manifest until social demands exceed the child’s limited capacities OR may be masked by learned strategies in later life
Autism constitutes a spectrum, as now depicted in term in DSM-5 of Autism Spectrum Disorder (ASD), with a range of severity levels and support needs
Not explained better by intellectual disability or global developmental delay
Includes what was labelled in pervious classification as Autism and Aspergers Disorder
ICD-11 expected to be approved by WHO in 2015; seems to incorporate similar modifications to those in DSM-5

4. SOCIAL (PRAGMATIC) COMMUNICATION DISORDER
New category, separate from ASD
Controversial
From early childhood, difficulty with each of these features:
Using language for social reasons
Adapting communication to fit the context
Following the conventions (rules) of conversation
Understanding implied communications
Consider work/educational or personal impairment
Usually identified by 4-5 years of age

5. PATHOLOGICAL DEMAND AVOIDANCE
Passive early history in first year
Continues to resist and avoid ordinary demands of life
Surface sociability, but apparent lack of sense of social identity, pride or shame
Lability of mood, impulsive, led by need to control
Comfortable in role play and pretending
Language delay, seems result of passivity
Obsessive behaviour
Neurological involvement

6. DIFFERENTIAL DIAGNOSIS
Other Pervasive Developmental Disorders
Rett’s Syndrome
Childhood Disintegrative Disorder
Receptive-Expressive Language Disorders
Landau – Kleffner Syndrome
Intellectual Disability
Sensory Deficits
Emotional Neglect

7. NEURODEVELOPMENTAL PROBLEMS AND DISORDERS
Global delay or intellectual disability
Motor co-ordination problems or DCD
Academic learning problems, for example, in numeracy or literacy
Speech and Language Disorder

8. ASD AND MEDICAL CONDITIONS
Intellectual disability (8% %)
Fragile X syndrome (24% - 60%)
Tuberous Sclerosis (36% - 79%)
Neonatal encephalopathy/epileptic encephalopathy/infantile spasms (4% - 14%)
Cerebral Palsy (15%)
Down Syndrome (6%-15%)
Muscular Dystrophy (3% - 37%)
Neurofibromatosis (4% - 8%)

9. CO-MORBIDITIES ADHD Mood Disorders Gilles de la Tourette's Syndrome
Sleep Disorders
OCD

10. ASD DIAGNOSIS?
Females with ASD (n=40) 80% Axis 1 diagnoses (mood=65%, anxiety=55%, ADHD=43%, OCD=33%, ED=10% psychotic disorders=5% Hofvander B 2009
Co-morbidity of young adults with Aspergers Syndrome – 70% major depression, 50% recurrent depressive disorder, 50% anxiety disorders Lugnegard 2011
94% of C+A with Asperger Syndrome have at least one psychiatric disorder: Anxiety (54%), Behavioural (48%), Mood (37%) Mukaddes 2010
Pathway to adult ASD – Most common earlier diagnoses are anxiety, mood or psychosis related disorders. More common in females Geurts 2011

11. COMPLEX DIFFERING PRESENTATIONS
In non clinical sample questionnaire measures of Aspergers Syndrome and Schizotypal Personality Disorder positively correlated Hurst 2007
Relationship between ASD and schizophrenia – Over 15 year period 26 pts newly diagnosed with ASD. 22 had co-morbid psychotic symptoms (16 schizophrenia, 6 mood disorder) Raja 2010
Adolescents and adults with ASD significantly more likely to show inappropriate courting behaviours – focus attention on celebrities, strangers, colleagues and ex-partners and pursue target longer Stokes 2007
Attachment issues
Eating disorders
Females
Gender identity
Adult presentations

12. ASD IN FEMALES Fewer and qualitatively different repetitive behaviours
Equivalent levels of social communication difficulties
Less obvious difficulties with socialising and behaviour regulations at school – but NOT at home
Higher levels of internalising difficulties

13. SOME CLINICAL HYPOTHESES
More likely to be misunderstood and misdiagnosed at initial presentation to services
More subtle social difficulties and possibility to mask difficulties better than boys
More social motivated, more often aware of “what is lacking”
More skilled in one-to-one interactions than boys, may be protected by a single friendship

14. GENDER DYSPHORIA AND AUTISM SPECTRUM DISORDER
Incongruence between assigned and experienced gender
Growing clinical recognition that a significant proportion of patients with gender dysphoria have concurrent ASD
Very limited data and research (especially in adults)
Dr Vries (2010) sample referred to gender identity clinic in Netherlands; higher prevalence of ASD than in general population

15. IDENTIFYING TARGETS FOR INTERVENTION
Identify most problematic behaviour
Are these realistic to treat?
Elicit antecedents and consequences
Link behaviours to relevant psychiatric symptoms/disorders
Draw on available evidence base to initiate treatment

16. INTERVENTIONS Behaviourally based Educationally based
Improve parent-child interactions
Developing social and communication skills
Educationally based
Accessible community support
Psychological approaches eg; CBT
Pharmacotherapy
On-line

17. PRINCIPLES FOR INTERVENTION
Individualisation
Structure
Intensity and generalization
Family participation

18. PROBLEMS PSYCHOPHARMACOLOGY INTERVENTIONS IN ASD
Challenges of differential diagnosis
Multiple symptoms make target for intervention to difficult to select and monitor for outcome
More prone to adverse effects
Difficult to elicit account of symptoms/target and adverse side effects from child/person
Lack evidence base in this population

19. TARGETS OF TREATMENT Core Symptoms Social Reciprocity Communication
Rigidity, Stereotypies
Other Symptoms
ADHD like symptoms
Aggression
Anxiety
Irritability, affective instability
Negativism
Sleep

20. TYPES OF DRUGS Neuroleptics SSRIs Methylphenidate Melatonin Naltrexone
Others

21. CLINICAL GUIDELINES FOR PHARMACOTHERAPY IN AUTISM (1)
Target Medications
Hyperactivity Methylphenidate or
other stimulants
Atomoxetine
Atypical antipsychotics
Clonidine
Rigidity, rituals Selective Serotonin
Reuptake inhibitors

22. CLINICAL GUIDELINES FOR PHARMACOTHERAPY IN AUTISM (2)
Target Medications Aggression, Atypical Antipsychotics Self-injury Lithium B Blockers Anticonvulsants Clonidine Anxiety, affective Buspirone Symptoms Atypical antipsychotics SSRIs – Fluoxetine Mood stabilisers Sleep Disturbance Melatonin