Autism Spectrum Disorders Update Dr. Fatima Janjua MD MSc FRCPCH PhD Consultant Paediatrician...

Autism Spectrum DisordersUpdate

Dr. Fatima Janjua MD MSc FRCPCH PhD

Consultant PaediatricianCommunity 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

• Ritualistic and stereotyped behaviour and resistance to change

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

• 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)

Imagination/Restricted interests

and behaviours

Associated problems:Variable degree of mental ability - 75%ClumsinessToe walkingAbnormal responses to sensory stimuliFood fads/restrictive dietSleep disorder

Autism Spectrum Disorders

L/C

S/I

I

NormalProfoundlyabnormal

L/C

S/I

I

Autism Spectrum Disorders

Language/Communication

Social Interaction

Imagination

NormalProfoundlyabnormal

Autism Spectrum Disorders

Language/Communication

Social Interaction

Imagination

NormalProfoundlyabnormal

Autism Spectrum Disorders

Language/Communication

Social Interaction

Imagination

NormalProfoundlyabnormal

Autism Spectrum Disorder

Normal human male behaviour

L/C

S/I

I

Normal Mild disorders of

Autism Spectrum Disorders

L/C

S/I

I

NormalProfoundlyabnormal

L/C

S/I

I

? ? ?

Cut-off point

• Cambridgeshire prevalence study (1999)

(5-11 year olds; ASD & Asperger’s S.)

– Cambridge 54/10,000– Peterborough 27/10,000– Huntingdon 84/10,000

Overall prevalence in C’shire: 57/10,000

Some prevalence studies

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 2005

Children born 1992-1995 1996-1998

Autism 16.8 22

Total ASD 62.6 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) Aproximate

rates /10,000

Estimated numbers in the

populationKanner S 5 29,400Other Spectrum Disorders 15 88,200People with average or high ability( IQ>70)

Asperger’ S 36 211,700Other Spectrum Disorders 35 205,700

Total 91 per 10,000 535,000

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)

AetiologyStructural 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, Underdevelopment of Limbic System (affects emotions, aggression, sensory input and learning)aggression, sensory input and learning)

Foetal testosterone Longitudinal StudyCambridge 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 TheorySimon 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

AetiologyGenetic - 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 Health Social

Paediatricians Paediatric Neurologists Psychologist Speech Therapists Physiotherapists Occupational Therapists Music Therapists Specialists nurses

Educational Psychologists

Early Years Support Specialists

SENCOS

ALSTTeam

Social Workers from the Special Needs Team

Autism Pathway4 main stages (Pre-school)

Detection and referral

Referral and assessment planning meeting

Assessment and diagnosis

Treatment and Management plan

Parents

Health Visitors

Family Doctors

Nursery Teachers

Representatives from each discipline in all three agencies

By a team of clinicians and professionals identified in the referral meeting according to child’s needs

Agreed between all professionals involved and parents

Autism Pathway (School age)

Detection and referral

Referral and assessment planning meeting

Assessment and diagnosis

Treatment and Management plan

Parents

Health Visitors

Family Doctors

Schools (SENCO)

Representatives from each discipline (Health only)

By Community Paediatrician with help from Educational colleagues (Scools, Specialist Services)

> Improve co-ordination

Advice and support from Health and Educational professionals

> Improve co-ordination

Autism PathwayPre-school

I -Referral arrives at Child Health Dpt.

II - Referral and assessment planning meeting

(with representatives of all three agencies)

III - Joint assessment by Paediatrician and Clinical Psychologist

SALT assessment Observation and assessment by Specialist pre-school teacher

Diagnosis of Autism or ASD

IV - Multidisciplinary review meeting and decision on treatment/management plan (3 months later)

No clear diagnosis; further assessments needed

Different diagnosis

Autism PathwaySchool 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 concerns)

Diagnosis of Autism or ASD

IV - Multidisciplinary review meeting in school and decision on treatment/management plan

No clear diagnosis; further assessments needed

Different diagnosis

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

Initial assessment:

Communication of diagnosis

Explanation about Autism

Pack of written information; practical advice; addresses of helpful organizations

Session/s with Clinical Psychologist for further advice (pre-school)

Further assessment and advice from other professionals (SALT; Pre-school teacher, Music therapist, etc.

2/3 weeks later

Multidisciplinary review and planning meeting

With Parents and all professionals involved3 months later

Other interventions

• Play Circle – Group Therapy (language and social-

communication 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 – to treat associated ADHD symptoms

 • 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

• Picture Exchange Communication System (PECS)

• Teacch

• Lovaas Therapy

• Option Institute (The Son-Rise Program)

• AIT (Auditory Integration Training)

• Facilitated Communication

• Holding Therapy

• 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 pre-empt and cope with problem behaviours.

• 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 have all undergone a full training program

The Lovaas method or

ABA (Applied Behavioural Analysis)

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: