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Recognition and management of autism throughout the lifespan

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Christopher Gillberg, MD, PhD Gillberg Neuropsychiatry Centre at the Sahlgrenska Academy, University of Gothenburg, and Queen Silvia s Children s Hospital, Sweden – PowerPoint PPT presentation

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Title: 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

4
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

10
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

11
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

12
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)

13
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

14
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)
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