Is There Any Relation Between Christianson Syndrome and Autism?

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We always talk about autism and its symptoms. Many write ups are also done to aware people about autistic disorders (ASD) and its diagnosis.

The result is, we all know the common and bench marked autistic disorders to diagnose a child with autism as early as possible. Another important point which makes autism unique from other brain diseases, is autism or ASD (Autism Spectrum Disorders) which is strongly based on gene manipulation through mutations.

CDC data report is another parameter to understand how many children and adults are found with autistic disorders in the U.S. According to 2010 data report, 1 out of 68 children is found or diagnosed with autism in the U.S.

Now we will talk about Christianson Syndrome (C.S), an extremely severe condition like autism. The report about C.S (Christianson Syndrome) was first registered in 1999. A new study was done with finding a doublet number of C.S case, which was documented in the scientific literature. So, as we know some of the basic standard autistic symptoms to identify a patient or child with autistic disabilities like,

Non-verbal communication
Lack of eye contact
Learning disabilities
Repetitive behavior
Stereotyped behavior
Cognitive disabilities
etc.

We should also be aware about the symptoms of Christianson Syndrome (CS).

“We’re hoping that clinicians will use these criteria and that there will be more awareness among clinicians and the community about Christianson Syndrome,” said by Dr. Eric Morrow, psychiatry Assistant Professor and senior author of the study in the Annals of Neurology.

A study was conducted taking 14 boys with CS (Christianson Syndrome) from 12 families. They were under the observation of scientists and physicians from the Christianson Syndrome Association.

Morrow’s team was the first one who succeeded to identify some symptoms, which are specific to CS (Christianson Syndrome).

The symptoms are classified in two sections and are listed below to diagnose CS.

Primary and Core CS Symptoms

Non-verbal
Ataxia
Epilepsy
Intellectual disabilities
Attenuation of growth in head circumference
Hyperkinesis

Secondary CS Symptoms

Autistic symptoms
Eye movement problems
Low height and/or weight with age
GERD (gastroesophageal reflux disease)
Regressions (after 1st decade of life)

Most of the primary and secondary symptoms are similar to autistic disorders. And boys with autistic disorders may also have the possibility of CS. That’s the reason why we need to focus on CS symptoms. So, there is a relation between autism and the CS (Christianson Syndrome).

Now we are going to talk about the next discovery of CS. This discovery reveals a secret which is very similar with the uniqueness of autism. Because like autism CS is also determined by abnormal genomic expression.

We all know that all human beings have 23 pair of chromosomes. In between 23 pair, there are 22 pair of autosomes and 1 pair of sex chromosomes. The sex chromosomes for boys and girls are different. As in case of boys, the pair of sex chromosomes consists of one X chromosome and one Y chromosome. But in case of females or girls the pair of sex chromosomes consists of two Y chromosomes.

The mutation of SLC9A6 gene on the X chromosome in boys is responsible for the CS or Christianson Syndrome. A protein, NHE6 is an important one for the neurological development but mutation of SLC9A6 gene inhibits the production of NHE6, which results in CS (Christianson Syndrome).

Most of the boys with mutant SLC9A6 gene are found with CS but a question may arise that why are females not found with CS (Christianson Syndrome)? Because instead of having two X chromosomes, females can be the carriers of CS and thus they are found very rare with Christianson Syndrom, less severely though, it needs more study.

So, autism or ASD (Autism Spectrum Disorders) is not only a subject to study, but also there are many other syndromes caused by abnormal genomic expression have a relation with autism. We need to pay more attention on every aspects, which may lead us to find out the hidden key of ultimate cure of autism.

by Chloe Paltrow

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