Autism Spectrum Disorders
Update
Dr. Fatima Janjua MD MSc FRCPCH PhD
Consultant Paediatrician
Community Child Health
fatima.janjua@ccs.nhs.uk
Autism
• Brief definition of Autism/Asperger’s/Autism
Spectrum Disorders
• Epidemiology: Is there an Autism epidemic?
• Aetiology: What do we know about causes
of Autism?
• Identification, assessment and diagnosis
• Intervention
• Medical treatment
Definitions of Autism
(From the Greek “autos”, meaning “self”)
“Mental condition, especially in children,
preventing proper response to environment”
(The Oxford dictionary, 1983)
• “Autistic disturbance of affective contact”
(Kanner, 1943)
Diagnostic Criteria
Kanner’s diagnostic triad:
• Abnormal
communication
• Abnormal social
development
Presently agreed diagnostic
criteria for autism:
• Abnormality of reciprocal social
relatedness
• Abnormality of communication
development (including language)
• Restricted, repetitive behaviour (or
patterns of behaviour), interest,
activities and imagination
• Ritualistic and
stereotyped behaviour
and resistance to change • Early onset (before 3 years of age)
I - Language and
Communication
• Delayed and/or disordered language (expression and
comprehension)
• Echolalia and repetitions
• Absence of two way conversation (reciprocity)
• Semantic pragmatic impairment:
–
–
–
–
Literal/concrete understanding(difficulty with jokes, teasing)
Comments: rude, irrelevant or out of context
Talking at people rather than with people
Perseverance; ceaseless questioning
• Disorders of pitch and intonation
I - Language and
Communication
• Delayed and/or disordered language (expression
and comprehension)
• Echolalia and repetitions
• Absence of two way conversation (reciprocity)
• Semantic pragmatic impairment
• Disorders of pitch and intonation
II - Reciprocal Social Interaction
• Lack of awareness and/or interest in others
– Dislikes and avoids social contact or approaches it in
unusual and unsuccessful ways
• Absent, poor or flitting eye contact
• Unresponsive to verbal requests or being called by name
• Difficulty being directed (prefers to do his own thing)
• Difficulty participating in group games, turn-taking, sharing.
• Poor mind-reading ability (mind-blindness):
– “Inconsiderate, selfish” because unaware of other people’s
emotional needs and feelings
• May be affectionate but on own terms
IIa - Reciprocal Social Interaction
• Aloof group:
– “ in a world of their own”; avoid eye gaze;no interest in
people, including their peers or treat them as objects; do not
seek comfort if hurt, little reaction to pain.
• Passive group:
– Allow others near them or play alongside but never initiate
contact. When they want something, they may just stand
close to it waiting for someone to guess
• Active but odd group:
– No sense of social barriers; may approach anyone including
total strangers; may stare long rather than avoid eye contact;
Very forceful in their attempts to attract other’s attention to
the point of being aggressive and unpleasant.
III – Imagination (Lack of)
• Limited, repetitive play (lining or grouping objects and
toys; spinning wheels; flicking switches)
• No or reduced symbolic, pretend or make believe play
• Preference for routine, “sameness”
• Dislike of change and new situations
• Repetitive or stereotyped behaviours
• Preoccupations, unusual interests and obsessions
Theory of mind
• Theory of mind is the ability to attribute mental
states—beliefs, intents, desires, pretending,
knowledge, etc.—to oneself and others and to
understand that others have beliefs, desires and
intentions that are different from one's own. This
develops gradually and possibly results from
predictable interactions with adults.
• In Autism Disorders there is possibly a
congenital absence of this ability.
Mind-blindness
• Mind-blindness can be described as an inability to
develop an awareness of what is in the mind of another
human. It is not necessarily caused by an inability to
imagine an answer, but is often due to not being able to
gather enough information to work out which of the many
possible answers is correct. Mind-blindness is the
opposite of empathy.
• Generally speaking, the "Mind-blindness" Theory asserts
that children with these conditions are delayed in
developing a theory of mind, which normally allows
developing children to put themselves “into someone
else's shoes”, to imagine their thoughts and feelings.“
Thus, autistic children often cannot conceptualize,
understand, or predict emotional states in other people.
Mirror neurons
• A mirror neuron is a neuron that fires both when
an animal acts and when the animal observes the
same action performed by another. Thus, the
neuron "mirrors" the behaviour of the other, as
though the observer were itself acting.
• Such neurons have been directly observed in
primate and other species including birds. In
humans, brain activity consistent with that of mirror
neurons has been found in the premotor cortex, the
supplementary motor area, the primary
somatosensory cortex and the inferior parietal
cortex.
Early signs - 12-24 months
• Language:
– Delay/disordered
– Lack of protodeclarative pointing
– Does not attend to speech (“auditory inattention”) Deafness?
• Social:
– Poor eye contact; no gaze monitoring
– Lack of joint attention
– No turn taking; Poor imitation
– No interest in other children
• Play:
– Repetitive; Isolated
– No pretend/ imaginative play
– Stereotopies: finger mannerisms; hand flapping
Summary: the problem areas
Language/
Communication
(Failure to use
communication
for social purposes)
Social Interaction
(Lack of reciprocity;
impaired empathy;
lack of joint attention)
Associated problems:
Variable degree of mental ability - 75%
Clumsiness
Toe walking
Abnormal responses to sensory stimuli
Food fads/restrictive diet
Sleep disorder
Imagination/
Restricted interests
and behaviours
Autism Spectrum Disorders
Profoundly
abnormal
Normal
L/C
L/C
S/I
S/I
I
I
Autism Spectrum Disorders
Profoundly
abnormal
Normal
Language/
Communication
Social Interaction
Imagination
Autism Spectrum Disorders
Profoundly
abnormal
Normal
Language/
Communication
Social Interaction
Imagination
Autism Spectrum Disorders
Profoundly
abnormal
Normal
Language/
Communication
Social Interaction
Imagination
Autism Spectrum Disorder
Normal
Mild disorders of
L/C
S/I
I
Normal human
male behaviour
Autism Spectrum Disorders
?
?
?
Profoundly
abnormal
Normal
Cut-off point
L/C
L/C
S/I
S/I
I
I
Some prevalence studies
• Cambridgeshire prevalence study (1999)
(5-11 year olds; ASD & Asperger’s S.)
– Cambridge
– Peterborough
– Huntingdon
54/10,000
27/10,000
84/10,000
Overall prevalence in C’shire: 57/10,000
More recent prevalence studies
Barwon study, Australia (Icasiano et al),
Dec/04
Children 2-17 years
N = 54 000




39/10 000
M/F
8.3:1.0
IQ<70
46.6%
9 sibling pairs
More recent prevalence studies
•
Lingam et al (2003)
Prevalence in North East London – 567 cases
of ASD born between 1979-1998:
• Prevalence increased by year of birth until
92, then plateaued at a rate of 2.6/1000
• Gradual reduction in the age of diagnosis
More recent prevalence studies
Chakrabarti & Fombonne (Staffordshire)
2001
Children born
Autism
Total ASD
1992-1995
16.8
62.6
2005
1996-1998
22
58.7
More prevalence studies
Prevalence of ASDs in a population cohort of
children in South Thames – Baird et al,2006
Co-hort – 56.946
Prevalence of Autism - 39 per 10,000
Prevalence of ASD
- 77 per 10,000
Total prevalence
116 per 10,000
(1 in 100)
Estimated prevalence rates of autistic spectrum
disorders in the UK
People with LDs (IQ<70)
Kanner S
Other Spectrum Disorders
Aproximate
rates /10,000
Estimated
numbers in the
population
5
15
29,400
88,200
36
35
211,700
205,700
91 per 10,000
535,000
People with average or high
ability( IQ>70)
Asperger’ S
Other Spectrum Disorders
Total
Is Autism Increasing in
Prevalence?
• Large number of studies, but outcomes vary with:
– Size and type of population studied (age, degree
of learning difficulty, % of migrants mothers)
– Prevalence rises with year of study
– Diagnostic tools and Criteria used
– One or more researchers/assessors
• Likelihood of massive under diagnosis in the past:
– The right questions need to be asked
– School aged children continue to be diagnosed
now
– Increased diagnosis in adults (studies of
Psychiatric outpatients and normal population)
Is Autism Increasing in
Prevalence?
Aetiology
• Annomalies of brain structure and
function
• Bioquemical annomalies
• Allergies and immunological deficits
• Genetic (Hereditary)
Aetiology
Structural brain abnormalities
•
Acceleration of brain growth around 3/4y but final head size in
adults possibly normal (some controversy)
•
There seems to be abnormality of cell migration in the initial stages
of brain development, resulting in:
–
–
–
Disrupted layers
Neurons clustered inside white matter
Increase in white matter and decrease in grey matter
•
Evidence of altered connexions between the cerebellum and the
cortex
•
Reduced number of Purkinge cells in cerebellum but
–
Confusion due to associated epilepsy (often cause of death)
Functional Magnetic Resonance Imaging
The limbic system
Underdevelopment of Limbic System (affects emotions,
aggression, sensory input and learning)
Foetal testosterone Longitudinal Study
Cambridge autism research centre
Simon Baron-Cohen
We have been testing if foetal testosterone, measured in amniotic
fluid obtained via amniocentesis, is associated with later
psychological and neural development postnatally.
……found that foetal testosterone is inversely associated with
social development, language development, and empathy; and that
foetal testosterone is positively associated with systemizing and
number of autistic traits.
……………………………….
The rationale for testing foetal testosterone comes from animal
studies which suggest this hormone, prenatally, masculinizes the
brain.
The Foetal Androgen Theory
Simon Baron-Cohen
Levels of Foetal Testosterone (FT) and post-natal typical
behavioural sex differences
•
Eye contact at 12M – Girls more eye contact then boys. Increased FT
correlates with less eye contact
•
Vocabulary at 24M - Girls have better vocabulary than boys. Increased FT
correlates with reduced vocabulary.
•
Reading eye test at 8 Y - Girls better than boys. Increased FT correlates with
reduced scores
Other clues:
•
Autism boys, earlier puberty
•
Autism girls, late menarch (Mothers too)
•
Finger length
•
Girls with Congenital Adreno-Hyperplasia have more ASD traits than
control females
Aetiology
Genetic - Why?
• Increased frequency of Autism amongst siblings of
probands – up to 2 –5%
• Very high concordance of Autism diagnosis in pairs of
monozygotic twins but little or no concordance in pairs of
dizygotic twins
• High incidence of milder but qualitatively similar symptoms
in first degree relatives of individuals with Autism, in
multiplex families.
• Anomalies of virtually all human chromosomes have been
found in certain individuals with ASD.
Recent Genetic studies:
Up to 10 genes may be involved
• International Molecular Genetic Study of Autism
Consortium – UK – susceptibility genes in
chromosomes 2q, 7q, 16p and 19p
• Collaborative Linkage Study – USA (John
Hopkins group) - genes in chromosome 7 and
in 2 regions of chromosome 13. Also ? 15
(15q11-13)
• Paris group - Genes in chromosomes 2, 7, 16,
19 but also 4,6,10,18 and X
Aetiology
“ Although the precise aetiology remains
unknown, autism is recognized as a
neurobiological condition involving central
nervous system dysfunction, most likely
with a genetic basis involving multiple,
interacting genes”
(Gray and Tonge, 2001)
The Multi-agency approach
Education
Educational
Psychologists
Early Years
Support
Specialists
SENCOS
ALSTTeam
Health
Paediatricians
Paediatric Neurologists
Psychologist
Speech Therapists
Physiotherapists
Occupational
Therapists
Music Therapists
Specialists nurses
Social
Social
Workers from
the Special
Needs Team
Autism Pathway
4 main stages (Pre-school)
Detection and
referral
Referral and
assessment planning
meeting
Parents
Health Visitors
Family Doctors
Nursery Teachers
Representatives
from each
discipline in all
three agencies
Assessment and
diagnosis
By a team of
clinicians and
professionals
identified in the
referral meeting
according to
child’s needs
Treatment and
Management
plan
Agreed between all
professionals
involved and
parents
Autism Pathway
(School age)
Detection and
referral
Referral and
assessment planning
meeting
Parents
Health Visitors
Family Doctors
Schools (SENCO)
Representatives
from each
discipline
(Health only)
Assessment and
diagnosis
By Community
Paediatrician with
help from
Educational
colleagues (Scools,
Specialist Services)
> Improve coordination
Treatment and
Management
plan
Advice and
support from
Health and
Educational
professionals
> Improve coordination
Autism Pathway
Pre-school
I -Referral arrives at Child Health Dpt.
II - Referral and assessment planning meeting
(with representatives of all three agencies)
SALT assessment
Observation and assessment by
Specialist pre-school teacher
III - Joint assessment by
Paediatrician and Clinical
Psychologist
Diagnosis of Autism
or ASD
Different diagnosis
No clear diagnosis; further
assessments needed
IV - Multidisciplinary review meeting and decision
on treatment/management plan (3 months later)
Autism Pathway
School age
I -Referral arrives at Child Health Dpt.
(Referral letter +Autism descriptors+ any other school
reports and information)
II - Referral and assessment planning meeting
(with health representatives only)
III - Assessment by
Paediatrician and SALT (if
Diagnosis of Autism
or ASD
Different diagnosis
concerns)
No clear diagnosis; further
assessments needed
IV - Multidisciplinary review meeting in school
and decision on treatment/management plan
Formal Assessment Tools
• Parents/Teachers Questionnaires
– GARS –Gillian Autism Rating Scales
– GADS – Gillian Asperger Disorder Scales
– Social/Communication Descriptors – school only
• Formal assessments
– ADI – Autism Diagnostic Interview
– ADOS – Autism Diagnostic Observation Schedule
After Diagnosis
Multidisciplinary
review and
planning meeting
Initial assessment:
Communication of
diagnosis
Explanation about Autism
Pack of written
information; practical
advice; addresses of
helpful organizations
2/3 weeks later
With Parents and all
3 months later professionals involved
Session/s with Clinical Psychologist for further advice (pre-school)
Further assessment and advice from other professionals (SALT; Pre-school
teacher, Music therapist, etc.
Other interventions
• Play Circle – Group Therapy (language and socialcommunication skills)
• Early Bird Course for Parents
• Evening Lectures at the CDC (for Parents)
• Behavioural management (CAMH Children with
Learning Disabilities Team)
Medical problems most commonly
associated with ASD
• Co-ordination difficulties (DCD)
• Toe walking
• Abnormal responses to sensory stimuli
• Food fads/restrictive diet
• Bowel problems
• Sleep disorder
• Epilepsy
Syndromes in which several cases of
Autism have been reported ( Double
Syndromes
•
Tuberous Sclerosis – Frequency of autism is about 25%
•
Down S. – Frequency of autism may be around 10%
•
Fragile X – Frequency of autism may be around 5%
Other syndromes sometimes associated with Autism
Congenital rubella . Cornelia de Lange . Fetal Alcohol S.
. Neurofibromatosis
Hypomelanosis of Ito . Joubert S. . Moebius S. . Phenilketonutia . Sotos S.
Gils de la Tourette . Rett Complex . Mucopolysaccharidosis (San Filippo)
Angelman S. . Noonan S.
Investigations
• Autism associated with learning difficulties
and/or family history of learning difficulties
– Chromosomal Analysis
– Fragile X Syndrome
• Others
– MRI – only if clinical signs of Tuberous Sclerosis
(skin lesions, fits)
– EEG (if epilepsy suspected)
– Full blood count and haemoglobin – if severe
dietary concern
Investigations
• NOT Recommended (unless strong
clinical signs)
– Studies of bowel function
– Blood levels of vitamins, trace elements, gut
antibodies,etc
– Food or other allergy tests
MEDICAL THERAPIES:
Pharmacological drugs ( used rarely and
usually to treat associated conditions)
• Methylphenidate/Clonidine
symptoms
–
to
treat
associated
ADHD
• Serotonin re-uptake inhibitors (SRIs) and Selective Serotonin
re-uptake inhibitors (SSRIs), fluoxetine and fluvoxamine –
have been used to treat agression and other core symptoms but
may be associated with serious side effects (movement disorders,
seizures and manic disorders)
• Propanolol and Risperidone – to treat agression
•
Melatonin – To treat sleep disorders
MEDICAL THERAPIES:
Dietary treatments (dairy or wheat free
diets) and vitamin supplements - not
proven and not advisable
Exception: wheat free diet seems to improve bowel
function in children with frequent/loose bowel
movements
Treatment Options for Autism
• The NAS EarlyBird
program
• Facilitated
Communication
• Picture Exchange
Communication
System (PECS)
• Holding Therapy
• Teacch
• Lovaas Therapy
• Option Institute (The
Son-Rise Program)
• AIT (Auditory
Integration Training)
• The Squeeze Machine
• Diets (ie: gluten & dairy free
diet)
• Mega Vitamin Therapy
• AIA (Allergy Induced
Autism)
Only options in red have are recognised and adopted by Autism
services in Cambridgeshire
• The EarlyBird approach is built on:
– Understand the autism: appreciate how your child
experiences the world and what underlies his / her
behaviour and development.
– Get yourself into your child's world: make contact; find
ways to develop interaction and communication.
– Learn how to analyse and understand your child's
behaviours; and how to use structure, so you can preempt and cope with problem behaviours.
The Lovaas method
or
ABA (Applied Behavioural Analysis)
• The Lovaas method is an early intensive behaviour
therapy approach for children with autism and other
related disorders
• The home-based program consists of 40 hours a week of
intensive therapy. The therapy is on a one-to-one basis
for 6-8 hours per day, 5-7 days a week, for 2 or more
years. Teaching sessions usually last 2-3 hours with
breaks. The intensity of the therapy means that there is
usually a need to establish a program team which
normally consists of at least three persons. These people
The “Son-Rise” or Options Program
• Developed by the Kaufmans (Parents of an
Autistic child)
• Five principles:
 The importance of a loving and accepting attitude
 The gift of a special child
 The parents are the child's best resource
 The question of hope and false hope
 The child as teacher
The TEACCH concept
(Treatment of Autistic and Communication Handicapped Children)
• The principles and concepts guiding the
TEACCH system have been summarised as:
 Improved adaptation:
 Parent collaboration:
 Assessment for individualised treatment:
 Structured teaching:
 Skill enhancement:
 Cognitive and behaviour therapy: Generalist
training: