Title: Recognition and management of autism throughout the lifespan
1Recognition 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
2Autism 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
3ASD
- 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
4ESSENCE - 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
5THE OVERLAP OF ASD WITH ADHD AND IDD
I
IDD
BIF
ASD
ALL
AT
ADHD
AD
6ASD 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
7Early 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
-
8ASD 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
9The 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
10ASD 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
11ASD 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
12Autisms 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)
13ASD 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
14ASD 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
15ASD 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
16Management 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
17Management 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
18Management 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
19Management 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
20Management of autism
- Brief Early Start Denver model (12 weeks, 1
session per week with parents - Vismara et al 2009
21Management 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?
22Management 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)