Refrigerator mothers and beyond….

The aetiology of autism

SEND Conference University of Derby

20.06.2014

Trevor Cotterill

University of Derby

Outline of seminar

Definition, History and Epidemiology

Cognition and neuroscience

Intervention

Conclusion

Part 1

Neurobiology, including gender

Part 2

Part 3

Part 4

Part 5

Part 6

Genetics

Refrigerator mothers and beyond…..

The aetiology of autism

Definition, History and Epidemiology

Definition• Autism is a set of heterogeneous neurodevelopmental conditions, characterised by early-onset difficulties in

social communication and unusually restricted, repetitive behaviour and interests

• Onset apparent before 3 years of age and persists throughout life

• Population prevalence of autism is ~17-61 per 10,000. (1% world)

• Male to female ratio of ~4:1 can rise to around 15:1 for Asperger

• Individuals with autism have atypical cognitive profiles, such as impaired social cognition and social

perception, executive dysfunction, and atypical perceptual and information processing. These profiles are

underpinned by atypical neural development at the systems level.

• Genetics has a key role in the aetiology of autism, in conjunction with developmentally early environmental

factors.

Major subgroups DSMIV(as of 2013)

– Asperger syndrome IQ above 85 no language delay– High-Functioning autism IQ above 85 and language delay– Low-Functioning autism IQ 74-84 with or without language delay– Atypical Autism either late onset or one rather than two of the core

features– Pervasive development disorder-not otherwise specified not enough

features to warrant a clear cut diagnosis

• Autism is now thought of as a set of neurodevelopmental conditions, some of which can be attributed to distinct aetiological factors, such as Mendelian single-gene mutations. However, most are probably the result of complex interactions between genetic and non-genetic risk factors. The many types are collectively defined by specific behaviours, centring on atypical development in social communication and unusually restricted or repetitive behaviour and interests.

Symptoms ...

Symptoms ...

• Difficulty in mixing with other children.• Prefers to be alone; aloof manner.• Inappropriate laughing and giggling.• Inappropriate attachment to objects.• Little or no eye contact.• May not want cuddling or act cuddly.• Apparent insensitivity to pain.• Spins objects; sustained odd play.• Insistence on sameness; resists changes in routine.• Noticeable physical overactivity or extreme underactivity.• Unresponsive to normal teaching methods.• No real fear of dangers.• Echolalia (repeating words or phrases in place of normal language).• Not responsive to verbal cues; acts as deaf.• Difficulty in expressing needs; uses gestures or pointing instead of words.• Tantrums - displays extreme distress for no apparent reason.• Uneven gross/fine motor skills (no kicking of balls but can stack blocks).

Social interaction Issues

A child who has ASD may find it hard to get on with otherpeople. They may:

• seem distant or detached, • have little or no interest in other people, and find it difficult make friends, • not seek affection in the usual way, or resist physical contact such as

kissing and cuddling, • find it difficult to make eye contact with other people, • not understand other peoples’ emotions, and • prefer to spend time alone.

Communication Issues

A child who has ASD may develop speech later than other children, or neverlearn to speak. When their speech does develop, the language and choice ofwords they use may be wrong. A child with ASD may also:

• not be able to express themselves well, • not be able to understand gestures, facial expressions, or tones of voice, • use odd phrases and use odd choices of words, • use more words than is necessary to explain simple things, • make up their own words or phrases, • not use their hands to make gestures when they speak, and • find it difficult to understand difficult commands.

Routine and repetitive behaviourChildren with ASD may:

• play the same games over and over, or play with games designed for children younger than themselves,

• get upset if their daily routines are interrupted in any way, and repeat actions, such as rocking back and forth or head banging,

• these symptoms may lead to hyperactivity in younger children,• older children and adults may develop obsessions. For example, with

specific objects, lists, timetables or routines.

Sensory difficulties

Some children with ASD also have sensory difficulties. This means that theymay get upset if they are over or under stimulated. For example, they mayprefer being indoors if they are over sensitive to light, or they may bump intopeople if they are under sensitive to touch.

Sensory difficulties can also lead to problems with movement. A person withASD may appear clumsy or have an unusual way of walking.

The past

Since most professionals now accept that autism is a neurodevelopmentaldisorder, there is every reason to assume that it has always existed.

Feral children Victor of Aveyron (also The Wild Boy of Aveyron)

Childhood insanity (Maudsley 1867)

Kanner (1943) Early Infantile Autism

Reported 11 childrenTwo things essential:• Autism• Resistance to change

Congenital in natureDevelopmental issues

Asperger 1944• Series of cases – all male• Problems with social skills couldn’t

join groups but had good cognitive/language skills

• Motor problems• Unusual interests train times for

Vienna –take parents• Family history esp. fathers• Autistic variant – have good language

not communication

Unaware of Kanner

Refrigerator mothers (1949)

Kanner: although autism was innate, thecoldness of the mothers added to the problem.

Bettleheim The Empty Fortress (1967)

Blamed the parents fortheir child’s autism. Hewrote: ‘The precipitatingfactor in infantile autismis the parent’s wish thathis child should not exist.’Bettleheim likened theseparents to guards in a Naziconcentration camp

Lorna Wing and Judith Gould (1979) Triad of Impairment

• DSM-I (1952) & DSM-II (1968) No term Autism or Pervasive Developmental Disorder Closest term: Schizophrenic Reaction (Childhood Type)

• 1980 DSM-III Pervasive Developmental Disorders (PDD): Childhood Onset PDD, Infantile Autism, Atypical Autism

• 1994 DSM-IV and the 10th revision of the International Classification of Diseases (ICD-10), autism is a pervasive developmental disorder, emphasised the early onset of a triad of features: impairments in social interaction; impairments in communication; and restricted, repetitive, and stereotyped behaviour, interests, and activities.

The future

Autism seen by some as a difference, not a disability – Wendy Lawson (2008) calls it a ‘diffability’

Professor Simon Baron-Cohen told The Times: ‘It has never been a bettertime to have autism. Why? Because there is a remarkably good fit betweenthe autistic mind and the digital age. For this new generation of childrenwith autism, I anticipate that many of them will find ways to blossom, usingtheir skills with digital technology to find employment, to find friends and insome cases to innovate.’

DSM-5

• The latest revision of DSM—DSM-5, published in May, 2013—adopted the umbrella term autism spectrum disorder without a definition of subtypes, and reorganised the triad into a dyad: difficulties in social communication and social interaction; and restricted and repetitive behaviour, interests, or activities. Atypical language development (historically linked to an autism diagnosis) was removed from the criteria, and is now classified as a co-occurring condition, even though large variation in language is characteristic of autism.

Core features in DSM-5 criteria

Persistent deficits in socialcommunication and socialinteraction across multiplecontexts

Deficits in social–emotional reciprocityDeficits in non-verbal communicative behaviours used for socialinteractionDeficits in developing, maintaining, and understanding relationships

Restricted, repetitive patterns ofbehaviour, interests, or activities

Stereotyped or repetitive motor movements, use of objects, or speechInsistence on sameness, inflexible adherence to routines, or ritualised patterns of verbal or non-verbal behaviourHighly restricted, fixated interests that are abnormal in intensity or focusHyper-reactivity or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment

Associated features not in DSM-5 criteria

Atypical language developmentand abilities

Age <6 years: frequently deviant and delayed in comprehension; two-thirds have difficulty with expressive phonology and grammarAge ≥6 years: deviant pragmatics, semantics, and morphology, with relatively intact articulation and syntax (ie, early difficulties are resolved)

Motor abnormalities Motor delay; hypotonia; catatonia; deficits in coordination, movement preparation and planning, praxis, gait, and balance

Excellent attention to detail

Epidemiology: Prevalence

• First epidemiological study (1966) showed that 4·1 of every 10,000 individuals in the UK had autism. Median worldwide prevalence is 0.70%

• However, the prevalence has continued to rise in the past two decades, particularly in individuals without intellectual disability, despite consistent use of DSM-IV criteria. An increase in risk factors cannot be ruled out. However, the rise is probably also due to improved awareness and recognition, changes in diagnosis, and younger age of diagnosis.

• Around 45% of people diagnosed have intellectual disability and 32% have regression (loss of previously acquired skills)

Risk and protective factors

• Advanced paternal or maternal reproductive age, or both, related to germline mutation, particularly when paternal in origin. Alternatively, individuals who have children late in life might do so because they have the broader autism phenotype—ie, mild traits characteristic of autism—which is known to be associated with having a child with autism, Additionally, prevalence of autism has been reported to be two times higher in cities where many jobs are in the information-technology sector than elsewhere; parents of children with autism might be more likely to be technically talented than are other parents.

Epidemiological studies have identified various risk factors, but none has proven to be necessary or sufficient alone

Risk and protective factors

• Gestational factors that could affect neurodevelopment, such as complications during pregnancy and exposure to chemicals, have been suggested to increase risk of autism. A broad, non-specific class of conditions reflecting general compromises to perinatal and neonatal health is also associated with increased risk. Conversely, folic acid supplements before conception and during early pregnancy seem to be protective.

• There is no evidence that the MMR (measles, mumps, and rubella) vaccine, thiomersal-containing vaccines, or repeated vaccination cause autism.

Epidemiological studies have identified various risk factors, but none has proven to be necessary or sufficient alone

More than 70% of individuals with autism have concurrent medical, developmental, or psychiatric conditions

Issue Proportion of individuals with autism affected

Intellectual disability 45%

ADHD 28%-44%

Motor abnormality 79%

Epilepsy 8-30%

Sleep disorders 50-80%

OCD 7-24%

ODD 16-28%

Avoidant personality disorder 13-25%

Aggressive behaviours 68%

Self-injurious behaviours 50%

Examples