Early symptoms and early diagnosis of ASD

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Early symptoms and early diagnosis of ASD

• Christopher Gillberg, MD, PhD
• Professor of Child and Adolescent Psychiatry
• Universities of Gothenburg, London, and
  Strathclyde
• Queen Silvias Hospital, NCYPE, and Yorkhill
  Hospital
• Glasgow March 2006

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Early symptoms and early diagnosis of ASD

• Poor social initiative, withdrawal, hypoactivity
  and poor emotional modulation characterize
  children with autism (according to blindly rated
  home-videos of children later diagnosed as
  suffering from autism) in the first year of life
• 87 have some of these symptoms before age 1
  years
• Maestro et al 2005

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Early symptoms and early diagnosis of ASD

• Children with ASD have elevated problem levels in
  the social and regulatory domains by 3-6 months
• by 12-15 months, they have higher levels of
  social symptoms than children with developmental
  delay
• at 3-4 years of age, children with ASD with early
  vs. late onset of symptoms, and with vs. without
  a history of regression do not differ on IQ or
  observational measures of autism symptom severity
• Werner et al 2005

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Early symptoms and early diagnosis of ASD

• If autism is to be recognized around 18 months of
  age the following areas should be explored
• dyadic interaction and imitation
• emotion discrimination, and
• attachment
• motor
• regression
• Teitelbaum 2003, Sigman et al 2004, Werner
  Dawson 2005

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Early symptoms and early diagnosis of ASD

• Brief summary of several Göteborg studies of
  children under 3 years of age who were suspected
  of having autism and later diagnosed as having
  autism (or not being in the autism spectrum)
• 3/4 of all suspected of having autism before age
  3 years (most before age 2 years) have autism at
  age 6 years
• The remainder have another neurodevelopmental
  diagnosis, including learning disability or ADHD
• Dahlgren Gillberg 1989, Gillberg 1989, Gillberg
  et al 1990

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Early symptoms and early diagnosis of ASD

• The Göteborg studies further support the
  importance of early sensory abnormality in the
  prediction of autism
• Strange reaction to sound or touch
• Lack of interest in the environment
• Extremely stereotyped behaviours
• Extremes of hyperactivity

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Early motor abnormalities - 1st year

• The Teitelbaums early home-video studies showed
  some rather consistent motor abnormalities to be
  characteristic of infants who later received the
  diagnosis of autism
• Moebius-like facial appearance
• Strange coordination when moving from back to
  front and from front to back, infant reflexes
  gone astray
• Teitelbaum et al 1998

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Early motor abnormalities - 1st year

• They have later shown that similar early motor
  peculiarities are typical also of those who later
  receive a diagnosis of Asperger syndrome
• Teitelbaum et al 2004

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Early perceptual abnormalities - 1st year

• Strong reaction to minimal noise, no reaction
  to loud noise
• Strong (negative) reaction to being touched
• No reaction to heat, cold, pain in some
  individuals
• Staring into strong light

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Early physical abnormalities - 1st and 2nd year

• Some stigmata including hypertelorism, and
  low-set ears
• Hypotonia
• Moebius-like face
• Peripheral coldness (hands and feet)?
• Macrocephalus at birth? Macrocephalus 2nd year?
• Gillberg and Coleman 2000, Coleman 2005

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Early gaze abnormalities - 1st and 2nd year

• Fixating lower portion of face
• Staring gaze
• Gaze avoidance? (fragile X)
• Gillberg and Coleman 2000, Coleman 2005

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Early imitation abnormalities - 1st year

• Fails to imitate
• However, some are extremely good at imitation
  from a relatively early age (perhaps not first
  year)
• No pointing for shared attention

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Early social abnormalities - 1st and 2nd year

• No or little interest in what goes on socially
• Passive acceptance
• Active but odd
• Active withdrawal in minority
• No interest in social play
• Low social arousal

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Early communication problems - 2nd year

• No or little facial expression
• Stereotyped - if any - gesturing
• Motor gesturing out of sync with what goes on
  socially
• Repetitive echolalic use of many single words,
  first words often unusual
• Language delay
• Does not appear to understand the need for or
  meaning of communication

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Early language delay - 2.5 years

• 25 will have an ASC at age 7 years
• Another 45 will have ADHD, learning disability
  and/or borderline intelligence
• Majority of language delayed children at 2.5
  years will have narrative problems at 7 years
• Miniscalco et al 2006 a, b

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What to do in practice?

• General developmental and behavioural screens at
  12, 18, 24, 36, and 48 months
• Any child raising suspicion (including language
  delay, general delay, suspected hearing
  impairment, and extreme hyperactivity) should be
  screened for ASC - but no consensus on best
  instrument
• Any child with regression should be screened for
  ASC
• Diagnosis of autistic disorder can usually be
  made around 24 months
• Diagnosis of Asperger syndrome/other ASC usually
  not until at/after 48 months
• However, a number of children with early
  neurodevelopmental problems (ASC? ADHD? LD? SLI?
  DCD?) need to be followed up even when no
  distinct diagnosis can be made at first visit