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The short answer is NO, Lamb-Shaffer Syndrome is not considered to be an Autism Spectrum Disorder. 

Autism is diagnosed using a list of symptoms, a checklist. This diagnosis is SUBJECTIVE.

Genetic conditions like Lamb-Shaffer Syndrome are diagnosed using special blood tests, Whole Exome Sequencing being the most informative. This diagnosis is DEFINITIVE.

Here you see a diagram of symptoms of Autism vs symptoms of Lamb-Shaffer Syndrome. As you can see, many of the symptoms are the same.

Does this mean that someone who has Lamb-Shaffer Syndrome also has Autism? NO!

This means that some of the symptoms of Lamb-Shaffer Syndrome and Autism are the same, BUT in someone who is diagnosed with Lamb-Shaffer Syndrome (or another genetic condition) the “Autistic” symptoms are caused by the genetic condition and do not need another explanation or diagnosis and most importantly, there are key symptoms that are DIFFERENT with the two diagnoses!

Additionally, when someone receives a diagnosis of Lamb-Shaffer Syndrome, it supersedes a diagnosis of Autism that they may have had before.

To put it bluntly, Autism is over-diagnosed. It is used as a catchall when another diagnosis isn’t clear or for patients to get services covered by their insurance. This causes people in the medical community to dump money into Autism awareness and research, leaving all of the “rare” genetic conditions to fend for themselves.

We would like to say that we mean no disrespect to anyone with an Autism diagnosis. We also do not fault anyone for wanting an Autism diagnosis to get services that would otherwise not be covered. HOWEVER, we feel strongly that that shouldn't have to happen in the first place and it is one thing we are working to fix! It is going to be a LONG, uphill battle but we feel passionately about it and will continue to do what we can to rectify this problem.


Please let us know if you have any questions!!



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