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Firstly, it's possible it could be both at once. Jacobsen Syndrome (11q deletion) describes an underlying cause of the child's problems, while autism describes the behavioral characteristics present in the child. Autism can have many possible causes, with Jacobsen Syndrome being one of them. It's kind of like saying 'is it a fever or is it measles?'

Diagnosing autism in a child with Jacobsen Syndrome poses the same challenges as diagnosing it in any child with cognitive disabilities. Both autism and cognitive disabilities will cause delays in social and language skills. However, in autism, these delays are more severe than their level of ability in other areas would predict (eg a child may be able to complete puzzles designed for 8 year olds, but have the social skills of a toddler). In addition, autism causes abnormal behavior as well as delays.

Socially, many autistic kids show a lack of interest in social interaction, which is not typical of any age level. Many autistic kids avoid eye contact as well. In addition, autistic kids who are verbal may show echoing of sentences or phrases out of context, known as delayed echolalia.

Furthermore, autistic kids typically show unusually repetitive behavior. This includes odd motor mannerisms such as hand-flapping or rocking, intense interests in specific areas (eg fascination with lampposts), or insistence on certain routines or rituals. These behaviors can sometimes be seen in non-autistic kids with cognitive disabilities, but is more extreme in autistic children.

Since Jacobsen Syndrome is not very well-known, if the child's needs are similar to autistic children a diagnosis of autism could be useful for therapeutic purposes. If you think your child is showing autistic traits, consult a psychologist.

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Q: Is it autism or delays caused by Jacobsen syndrome?
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