Lamb-Shaffer Syndrome

Lamb-Shaffer Syndrome is a genetic condition classified as a mutation, deletion or partial deletion of the SOX5 gene located in the 12th chromosome. The most common symptoms of Lamb-Shaffer Syndrome are, but not limited to, significant speech delay, hypotonia, gross motor delay, fine motor delay, global developmental delay, vision issues, mild facial abnormalities, a love of water, and a smile and laugh that could light up a room!

There are currently only approximately 500 people in the world diagnosed with this syndrome, but we KNOW there are more. Diagnosis of LSS can only be definitively made using genetic testing, primarily Whole Exome Sequencing or a Chromosomal Microarray.

Lamb-Shaffer Syndrome vs. Autism

Is Lamb-Shaffer Syndrome considered Autism? NO, Lamb-Shaffer Syndrome is NOT considered to be an Autism Spectrum Disorder. The primary differences lie in the diagnosis process:

Autism is diagnosed using a list of symptoms, a checklist. Autism diagnosing is SUBJECTIVE, or the opinion of the Doctor/Medical Professional making the diagnosis, based off of the patients list of symptoms.

Genetic conditions, such as Lamb-Shaffer Syndrome, are diagnosed using special blood tests, Whole Genome Sequencing, Chromosomal Microarray or other specialized tests. Unlike Autism, a diagnosis of a genetic condition is DEFINITIVE, or conclusive, absolute, factual information determined by the results of the blood test(s).

Here is a diagram depicting the various symptoms of both Autism and Lamb-Shaffer Syndrome. As you can see, there are many symptoms that both share or have in common. However, there are distinct differences between the two!

Does this mean that anyone who has Lamb-Shaffer also has Autism? Simply put, NO those with Lamb-Shaffer Syndrome do not also have Autism.

Although some of the symptoms of Lamb-Shaffer Syndrome and Autism are the same, 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. Most importantly, there are key symptoms that are DIFFERENT with the two diagnoses! When someone receives a diagnosis of Lamb-Shaffer Syndrome, it supersedes a diagnosis of Autism.

Unfortunately, Autism disorders are currently over-diagnosed. The diagnosis is used as a catchall when other diagnoses are not clear or for patients to get services covered by their insurance. With the overuse of the Autism diagnosis, the medical community tends to funnel 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, nor do we fault anyone for wanting an Autism diagnosis to get services that would otherwise not be covered by insurance. HOWEVER, we feel strongly that no one should have to be misdiagnosed in order to receive the proper medical care covered by their insurance! Misdiagnosis should NOT have to happen in order for the proper medical service, this is something we are working HARD 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!