Recognition and management of autism
throughout the lifespan
• Christopher Gillberg, MD, PhD
• Gillberg Neuropsychiatry Centre at the Sahlgrenska
Academy, University of Gothenburg, and Queen Silvia´s
Children´s Hospital, Sweden
• Glasgow University and Strathclyde University, and
Yorkhill Hospital, Scotland
• Institute of Child Health, University College London, and
Neville Centre at Young Epilepsy, England
• University of Bergen, Norway
– Gothenburg, March 2012
www.gnc.gu.se
Autism: the best validated social
communication disorder/empathy disorder
• Autism, Asperger syndrome, autistic disorder, infantile autism,
childhood autism, disintegrative disorder, regressive autism,
autism spectrum disorders (ASD), autism spectrum conditions
(ASC), PDD, PDDNOS, atypical autism, autisticlike conditions,
autistic features, autistic traits, shadow autism, broader
phenotype, lesser variant, autisms or what?
• The autisms may be part of a much broader group of
neurodevelopmental social communication disorders that would perhaps - be better referred to as disorders of empathy - empathy
is probably a normally distributed trait in the population and EQ
(Gillberg 1992) comparable to IQ
• The common denominator is a deficit in intuitive empathy, intuitive
and active shared attention, and in spontaneous intersubjectivity
• This social communication problem could also be referred to as a
“lack of or diminished social instinct”, but where in the brain is it?
– Wing, Gould, and Gillberg 2011
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ASD
• One per cent (0.7-1.6) or a bit more of the general population
of children (plus several per cent more with marked but not
hugely impairing autism features)
– Gillberg 1983, Gillberg et al 1991, Gillberg and Wing 1999, Wing and
Potter 2002,Constantino et al 2003, Baird et al 2006, Posserud et al 2006,
Gillberg et al 2007 a and b, Baron-Cohen et al 2009, Coleman and
Gillberg 2011, Kocovska et al 2012, Lundström et al 2012
• 50-80% now often recognized (and diagnosed) in children
under 4 years of age
– Fernell et al 2010, Nygren et al 2012
• Main presenting symptoms: motor-perceptual-sensory,
attention, no initiation of joint attention, activity, learning, sleep,
social, and language (maybe even in that developmental
order)
– Coleman and Gillberg 2011
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ESSENCE - Early Symptomatic Syndromes Eliciting
Neuropsychiatric/Neurodevelopmental Clinical Examinations
• Syndromes
– ASC (Autism Spectrum Conditions, including Disorders)
– ADHD (Attention-Deficit/Hyperactivity Disorder Spectrum)
with or without ODD/CD (Oppositional Defiant
Disorder/Conduct Disorder)
– TS (Tic Spectrum including Tourette Syndrome)
– BD (Bipolar Spectrum including Disorder)
– SLI/LI (“Specific” Language Impairment), never specific?
– IDD/LD/MR (Intellectual Developmental Disorder/Learning
Disability/Mental Retardation) and NVLD (Non-Verbal
Learning Disability)
– DCD (Developmental Coordination Disorder)
– BPS (Behavioural Phenotype Syndromes)
– Epilepsy and other neurological syndromes: LandauKleffner Syndrome, CSWS, FS+, CP, hydrocephalus
www.gnc.gu.se
THE OVERLAP OF ASD WITH ADHD AND IDD
BIF
IDD
I
ASD
ALL
AT
ADHD
AD
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ASD in preschool children
• Example: suspected ASD under age 3 years
– 28 children followed for several years from under age 3
years with suspected ASD: 75% met criteria for autistic
disorder at age 6 years, and remainder had other
neuropsychiatric diagnosis (other ASD, ADHD, LD)
– Gillberg et al 1990
– 208 children with ASD diagnosis made by clinicians at age
0-4 years: 52% met criteria for autistic disorder at follow-up,
39% met criteria for other ASD, 9% had other
neuropsychiatric diagnosis (ADHD, LD) - prevalence of ASD
in this age group 0.6%
– Fernell et al 2009
– ASD diagnosis around age 2-4 years highly stable in
90% of cases, virtually no “over-diagnosis”, many
Asperger cases missed
– 10% have epilepsy by age 3 years, social outcome in
this ASD subgroup very poor
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Early symptoms (age 0-4 years) in ASD
• Motor control problems first year of life (Moebius-like,
“serious” face, “scanning eye-behaviour”, strange
movements from back to front, compartmentalised motor
development) 50-100%
• Perceptual abnormalities in 90-100%
• Language problems/pragmatic problems in 90-100%
• Behaviour problems in 90-100%
• No or limited initiation of joint attention ( => major social
interaction problems) 80-100%
• Hyperactivity and impulsivity (often extreme) in 40-50%
• Hypoactivity in 10-25%
• Sleep problems in 40%
• Delayed general development in 20%
• Mood swings in 10%
• One or several of the above could be presenting
complaint
– Coleman and Gillberg 2011
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ASD in the DSM-V
• ASD is a dyad, not a triad (the dyad of impairment in social
communication and social imagination/repetitive behaviours/)
• DSM-V will probably have seven symptoms (three social, four
behaviour, incl perception) that correspond to eight of the
DSM-IV symptoms and four vague criteria have been
removed, no specified subgroups
• In the new manual, only autistic disorder and Gillberg´s
Asperger syndrome will meet the criteria, many PDDNOS will
probably “disappear”
• There will be a “severity scale” according to level of help and
intervention required
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The autisms: summary biological background factors
• The autisms are a group of multifactorially determined conditions
(that are not on one spectrum), and there are possibly only slightly
fewer causes than there are cases. Synapse and clock genes
probably play a major role (and often affect synapse formation
and function, e.g. neuroligin, neurexin, SHANK 2 and 3,
melatonin genes), but environmental factors (prematurity, alcohol,
valproate, vitamin D?) contribute to clinical presentation in many
cases and can themselves cause ASD in some instances. There is
decreased and abnormal intra- and internetwork connectivity. The
medial prefrontal, medial temporal, brainstem and cerebellar
regions of the central nervous system are almost always affected,
singly or in various combinations. These areas constitute a
functional network, “the default network”, which appears to be
critically differently functioning in ASD
– Iacoboni 2006, Buckner and Vincent 2007, Bourgeron 2007, Monk et al 2009,
Gillberg 2010, Dinnstein et al 2010, Coleman and Gillberg 2011, Lundström et al
2012, Leblond et al 2012
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ASD: risk for extreme behaviour
• Autism predicts autism
• ASD usually means that there will be an “unusual”
life, not necessarily “poor outcome”
• A few have such extreme behaviours as to present
to other people as “extreme”, “eccentrics”, and
“maniacs”, often with evidence of “dangerous
tantrums”, occasionally related to epilepsy
• Small number commit heinous crimes (shoot-outs,
Molotov cocktails, religious) (However, Asperger´s
own cases had no increase in criminal convictions)
– Hippler et al 2010, Coleman and Gillberg 2011
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ASD: outcome
• Autism predicts autism
• Poor social outcome driven by low IQ, SLI, NVLD,
ADHD, epilepsy and other medical disorders
• “Autistic disorder” has “poor outcome”
• Asperger syndrome has “variable outcome”
• Autistic features are common and have relatively
good outcome?
• So what is it that we need to recognize and “treat”?
• ESSENCE
– Billstedt et al 2005, Gillberg 2010, Lundström et al 2011,
Helles et al 2012
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Autisms: when and where to find and why
• Severe cases (usually with some degree of global
cognitive impairment and other ESSENCE coexistence)
should all be recognized in preschool (majority under 3
years of age) - screening at child health centres and by
health visitors required, screening all children with
epilepsy very important
• Intervention, particularly educational (not least for
parents), should be started at once, no time to wait and
see
• Asperger syndrome will not usually be diagnosed until
school age, teachers need to be much better informed
• Autistic traits in the context of “other presenting
problems, incl depression, anxiety, psychosis, PD
• Severe hyperactivity/”ADHD” often major presenting
symptom
• Autism predicts autism, autism comorbidity predicts
“other outcomes”, autism signals the need to screen for
all types of ESSENCE-comorbidities (ESSENCE-Q)
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ASD in DSM-V: how to find in infants and
toddlers
• M-CHAT from age 1.5 years
• JA-OBS
• ESSENCE-Q
• Vineland
• CARS, DISCO in some cases, ADOS in some;
current widespread overuse of the ADI-R
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ASD in DSM-V: how to find in school age?
• ASSQ
• ASDI
• DSM-V-checklist for autism, ADHD, tics, depression,
selective mutism, and anxiety and GAF-level (or CGI-I)
for all of these (or FTF or ATAC)
• Vineland
• CARS, DISCO in some cases, ADOS in some; current
widespread overuse of the ADI-R
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ASD in DSM-V: how to find in adult age?
• Think about ASD in
– Psychosis
– Personality disorder
– Social phobia
– Unclear anxiety disorders
– Selective mutism
– Mood disorders
– “Dummies”
– Stress reactions
• RAADS-R
• CARS, DISCO and ADOS in some
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Management of autism
• Diagnosis
• Psychoeducation – parent training (what autism is and what it
is not and how to tackle communication and behaviour
problems in real-life-settings)
• Autism-friendly environment
• Identify any co-existing or underlying disorder, treat these, e.g.
ADHD, OCD, depression
• Individual tailoring necessary in all cases, do not foster ”belief”
in one system
• A much underrated part of intervention and treatment
– Nydén et al 2009
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Management of autism
• ABA
• Several well-designed RCTs on relatively small samples all
support some positive effects on VABS, DQ and behaviour,
some of these have not reported IQ-level
– Eikeseth et al 2009, Howlin 2009, Eikeseth et al 2011
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Management of autism
• Multimodal intensive training/learning (focus on adaptive skills
first, maybe also reading, ”can they use it in adult life?”)
• Includes structured education, visually enhanced
communication aids (e.g. PECS) and elements of ABA
• Positive effects particularly in individuals with IQ>50 and in
those without epilepsy, but intensive therapies may be ”too
much” (and possibly not better than less intensive ones)
• Child factors rather than intensity of intervention predict
outcome (low IQ, poor language, epilepsy, medical disorders,
ADHD)
– Fernell et al 2011, Eriksson et al 2012
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Management of autism
• Social communication training
• Parent ”education” programme for supporting social
communication skills development in the child
• Large RCT (multisite)
• Some remaining effects on social communication but not on
overall autism symptoms or IQ
– Green et al 2010
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Management of autism
• Brief Early Start Denver model (12 weeks, 1 session per week
with parents
– Vismara et al 2009
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Management of autism
• Medication for certain comorbidities, not currently appropriate for ASD
”in itself” (whatever that is)
• Stimulants may ”unmask” ASD (true in ADHD+ASD with or without
epilepsy)
• Melatonin or alimemazine for sleep problems
• Lamotrigine or valproic acid for seizures (and mood swings in some
cases),
• Risperidone (and haloperidol?) for severely violent behaviour or SIB
• SRIs for depression and, albeit rarely, for OCS
• Omega-3 supplementation?
• Vitamin D?
• Oxytocin?
www.gnc.gu.se
Management of autism
• Diagnosis, full information, parent support, and autism-friendly
environments throughout life, don´t cure autism now (unless
there is known etiology that can be ”cured”)
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