Saturday, July 14, 2012

Friday's Facts 062212: Down Syndrome and Autism

Recent years have shown an increase in the number of children who are dually diagnosed: Down Syndrome (DS) AND autism.  In short, these are children who have BOTH.

It is not easy to diagnose autism; There is no blood test, genetic marker, or facial feature to aid in diagnosis.  It is a subjective opinion.  The diagnosis is still harder in children who already have a 'learning disability' such as DS.  There is also not clear agreement on the number of children who are affected by both.

Surveys in the UK and Sweden suggest approximately 5-7% of children with DS have autistic spectrum disorder, or autism.  A recent study in the US suggests 2 in 20 (10%).

Some studies have suggested a family history of autism was present in the families of some of the children dually diagnosed.  Like other children, they are affected by a genetic predisposition in their families.

Some studies suggest that many dually diagnosed children have serious health problems that do not affect all children with DS.  There may be an increased risk for autism for those children with DS who have experienced: infantile spasms, epilepsy, brain injury after complicated heart surgery, severe hearing or visual impairments, and persistent infections.

The diagnosis and treatment of autism is more critical those for DS.  Without early detection and intervention, the lives of children with autism may be much more limited than those with DS. The key area affected developmentally in the DS child is cognitive.  For the autistic child, it is social and emotional. 

Most babies show the least delay in social and emotional development, smiling when talked to at 2 months, smiling spontaneously at 3 months, etc.  Each milestone showing a 1-month delay (on average).  So, the key area to watch for in a child with DS suspected of having a complicated behavior disorder such as autism is in the social/emotional development.

Some key behaviors that may point to the possibility of autism in a child with Down syndrome are:
  1. Extreme Autistic Aloneness - The child does not relate to people normally and seems to prefer to be left alone. The child seems to consider other persons as objects, not people. He will not join in group play with other children. Unlike children with Down syndrome, who are very lovable and huggable, the autistic child does not want to be held.
  2. Anxiously obsessive desire for the preservation of sameness - Any differences in daily routines can cause a large upset.
  3. Lack of eye contact - Autistic persons typically do not make eye contact but will look away or "right through" other people.
  4. Shows repetitive, "Stereotypical" movement, like sitting for long periods of time with an object in his hand and just waving it back and forth looking at it.
Individuals with autism usually exhibit at least half of the traits listed below. These symptoms can range from mild to severe and vary in intensity from symptom to symptom. In addition, the behavior usually occurs across many different situations and is consistently inappropriate for their age.
  • Difficulty in mixing with other children
  • Insistence on sameness; resists changes in routine
  • Inappropriate laughing and giggling
  • No real fear of dangers
  • Little or no eye contact
  • Sustained odd play
  • Apparent insensitivity to pain
  • Echolalia (repeating words or phrases in place of normal language)
  • Prefers to be alone; aloof manner
  • May not want cuddling or act cuddly
  • Spins objects
  • Not responsive to verbal cues; acts as deaf
  • Inappropriate attachment to objects
  • Difficulty in expressing needs; uses gestures or pointing instead of words
  • Noticeable physical overactivity or extreme underactivity
  • Tantrums - displays extreme distress for no apparent reason
  • Unresponsive to normal teaching methods
  • Uneven gross/fine motor skills. (May not want to kick ball but can stack blocks.
Adapted from the original by Professor Rendle-Short, Brisbane Children's Hospital, University of Queensland, Australia.
Diagnosis of Autism in Down Syndrome - DSM-IV Checklist
  1. A total of six (or more) items from (1), (2), and (3), with at least two from (1) and one each from (2) and (3).
    1. Qualitative impairment in social interaction, as manifested by at least two of the following:
      1. Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction.
        • Not normally seen in Down syndrome, more indicative of autism.
      2. Failure to develop peer relationships appropriate to developmental level.
        • Not normally seen in Down syndrome, more indicative of autism.
      3. A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by lack of showing, bringing, or pointing out objects of interest).
        • Somewhat true in Down syndrome but much more pronounced in autism.
      4. Lack of social or emotional reciprocity.
        • Somewhat true in Down syndrome but much more pronounced in autism.
    2. Qualitative impairments in communication as manifested by at least one of the following:
      1. Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime).
        • Not normally seen in Down syndrome.
      2. In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others.
        • Normally seen in Down syndrome, although not to the extent seen in autism.
      3. Stereotyped and repetitive use of language or idiosyncratic language.
        • Seen somewhat in Down syndrome but not to the extent seen in autism.
      4. Lack of varied, spontaneous make-believe play or social initiative play appropriate to developmental level.
        • Not normally seen in Down syndrome.
    3. Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
      1. Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal in either in intensity or focus.
        • Not normally seen in Down syndrome.
      2. Apparently inflexible adherence to specific, nonfunctional routines or rituals.
        • Not normally seen in Down syndrome.
      3. Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting or complex whole body movements).
        • Not normally seen in Down syndrome.
      4. Persistent preoccupation with parts of objects.
        • Not normally seen in Down syndrome.
  2. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) Social interaction, (2) Language as used in social communication, or (3) Symbolic or imaginative play.
    • Children with Down syndrome will normally display some deficits in these traits depending on the severity of mental retardation. Since this is not entirely unexpected, it is usually ignored in the records and not so noted. Therefore when autism is diagnosed at a later age and the records or memory is searched for this evidence it is either not found in the official records of the child or it is forgotten about because it was not deemed all that unusual at the time. The diagnostician may then discard the possible diagnosis of autism because the appearance is given (falsely) that these traits were not present prior to 36 months of age. Because of this quirk in the diagnosis, there probably are many persons with Down syndrome with autism but it is not so diagnosed.
  1. The disturbance is not better counted for by Rett's Disorder or Childhood Disintegrative Disorder.

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