CHARGE and other syndromes together

[Guest guest]

Ok guys, this is long, so bear with me.

It is certainly possible to have more than one diagnosis.

Even more than one genetic diagnosis in the same child. We

see that on a regular basis in genetics clinics. I've seen

Down syndrome with colobomas, neurofibromatosis with fragile

X, and others. Sometimes we see one thing form one side of

the family and something else from the other. Just because

you have one diagnosis doesn't exempt you from others.

What is difficult with such a complex disorder as CHARGE is

determining whether the " symptoms " are those of another

separate diagnosis (CP, autism, Tourette, etc.) or whether

the symptoms are within the range of CHARGE.

Certainly some " autistic-like behaviors " are within the

range of CHARGE. Autism is common enough that we would

expect a few children with CHARGE to also have autism. Now

that we have been more carefully following more and more

children and young adults, we are beginning to conclude that

some behaviors (especially obsessive-compulsive type things)

may be part of having CHARGE.... the more we know, the more

we don't know.

Cerebral Palsy is a very inexact diagnosis with many

potential causes, including some of the difficult birth

issues that can be a result of CHARGE...

Now the situation with VCF (velocardiofacial syndrome, also

called Sprintzen, also called 22q deletion syndrome) and

VATER (also called VACTERL) is a bit different. These two

diagnoses have a huge overlap with CHARGE. It is most

likely that a child will have only one of these diagnoses -

they all have a wide range of expression and overlap a lot.

There is a test for VCF (the deletion 22 chromosome test

called FISH), which all children with possible CHARGE should

have (they can look very similar). If a child doesn't have

the deletion, the difference between CHARGE and VATER (and

the very small number of kids with VCF with no deletion) is

a clinical diagnosis - can be best clarified by a medical

geneticist, but even then there may not be complete

agreement.

VCF is common enough that it is possible for a child to have

VCF and CHARGE. We won't be able to confirm that for sure

until we have a diagnostic test for CHARGE.

On a related note: at the conferences we do what we call

" diagnostic dilemmas " evaluations - they are not medical

evaluations but looking at kids, asking parents lots of

questions and giving an opinion of what the diagnosis may be

and if any other tests would help clarify. Legally, we

cannot do medical evaluations, make management decisions, or

do any treatment. We can send you back to your local

doctors with things to consider.

Meg Hefner MS

Genetic Counselor

St. Louis MO

meg@...