Early symptoms and early Diagnos

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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 Silvia´s Hospital, NCYPE, and Yorkhill
      • Glasgow March 2006
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
   – Maestro et al 2005
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
Early symptoms and early diagnosis of ASD

 If autism is to be recognized around 18
  months of age the following areas should be
 dyadic interaction and imitation
 emotion discrimination, and
 attachment
 motor
 regression
  – Teitelbaum 2003, Sigman et al 2004, Werner & Dawson 2005
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
Early symptoms and early diagnosis of ASD

 The Göteborg studies further support the importance
    of early sensory abnormality in the prediction of
   Strange reaction to sound or touch
   Lack of interest in the environment
   Extremely stereotyped behaviours
   Extremes of hyperactivity
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
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
        – Teitelbaum et al 2004
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
 Staring into strong light
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
        – Gillberg and Coleman 2000, Coleman 2005
Early gaze abnormalities
- 1st and 2nd year
 Fixating lower portion of face
 Staring gaze
 Gaze avoidance? (fragile X)
        – Gillberg and Coleman 2000, Coleman 2005
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
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
Early communication problems
- 2nd year
 No or little facial expression
 Stereotyped - if any - gesturing
 Motor gesturing out of sync with what goes on
 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
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
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
   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