16p11.2 Microdeletion – My Sons Condition 2016-09-17

You will know that my son has autism, he is also non verbal, has GDD and Hypermobility, Low Muscle Tone… but you may not know where this comes from. Although autism has not been proved to be genetic and there isn’t a Autism gene as such my son has a small deletion in one of his chromosomes.

Number 16p11.2

There is a guide on the Unique website which gives you much more detail about this then I would go into on here, if you are interested please read it here

Although physically he looks pretty normal, most people don’t notice that his head is flatter on one side and that his ears are different or that he has webbed feet, mentally he is affected and this has meant that his learning is slow and that he acts much younger than his age.

People don’t always understand a disability that they cannot see, but these sorts of disabilities can be worse for the person affected to live with day to day than someone with a physical disability, more work needs to be done to help more people understand this.

Also people need to stop talking about things like Autism as if they are diseases, or illnesses, someone with Autism will always have Autism, this will never go away, they may learn to live with it, they may develop coping mechanisms to be able to cope with day to day life but they will always have it.

The highlights from the report of my sons condition are

The most common features are:

  • Delay in starting to speak and in language development
  • Some developmental delay or learning difficulty. Developmental delay is more likely to affect thinking and language skills than mobility skills
  • An increased susceptibility to autism or an autism spectrum disorder  very minor unusual facial or physical features
  • Low muscle tone in babies
  • Tendency to overweight
  • In a few, a seizure disorder

The features vary, even between members of the same family. They do not affect everyone, and in any individual they can be more or less obvious. People with a 16p11.2 microdeletion do not usually have any major birth defects.  Some people are apparently unaffected by their 16p11.2 microdeletion. They have no learning, speech or developmental difficulties.  Women and men who carry a 16p11.2 microdeletion can pass it on to their children. The microdeletion can affect the child differently to the parent.


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