Recognition and management of autism throughout the lifespan

1
Recognition and management of autism throughout
the lifespan

• Christopher Gillberg, MD, PhD
• Gillberg Neuropsychiatry Centre at the
  Sahlgrenska Academy, University of Gothenburg,
  and Queen Silvias Childrens 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

2

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

3
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
  Landau-Kleffner Syndrome, CSWS, FS, CP,
  hydrocephalus

5
THE OVERLAP OF ASD WITH ADHD AND IDD
I
IDD
BIF
ASD
ALL
AT
ADHD
AD
6
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

7
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 ( gt
  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

8
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
  Gillbergs 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

9
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,
  Aspergers 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

15
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

16
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

17
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

18
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
  IQgt50 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

19
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

20
Management of autism

• Brief Early Start Denver model (12 weeks, 1
  session per week with parents
• Vismara et al 2009

21
Management of autism

• Medication for certain comorbidities, not
  currently appropriate for ASD in itself
  (whatever that is)
• Stimulants may unmask ASD (true in ADHDASD
  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?

22
Management of autism

• Diagnosis, full information, parent support, and
  autism-friendly environments throughout life,
  dont cure autism now (unless there is known
  etiology that can be cured)