Chromosomal 18q abnormality

January 14, 2007 7:01 PM

A friend's 6 month old daughter has been diagnosed with chromosomal 18q deletion syndrome. I am asking for help with resources and personal experiences. What are the available management and treatment options? Contact points?

My friends' daughter has not exhibited any other symptoms but a slightly delayed development, physically (she is not able to sit by herself) and mentally (does not try to use any words). The child was diagnosed a couple of days ago and the parents are desperately looking for any information about it both online and with doctors (they live in Greece). They have family in the US and in Canada and we are trying to collect as much information for them so that they get the best possible assistance and if needed come here for treatment.

This seems to be one of the rarest chromosomal abnormalities which was not detected prenatally through amniocentesis because the mother is in the age bracket when such a procedure is not recommended. There is no history (family or personal) of miscarriages. From the information we have collected till now, there is no "cure" or even certainty of survival beyond the teens. The associated defects are debilitating --mental retardation, slow physical growth, lack of muscle control, facial and cranial deformities. However, there is discussion online that cases are known to improve given better care from the environment such as physical and speech therapy, daily injections of growth hormones etc. But again with little discussion about the effectiveness and the side effects of such procedures. How soon should such procedures start?

So I am wondering if anyone here has experience with such a situation. What is the survival rate, the life span? Where can one go here (in New York City or in Montreal but elsewhere too, anywhere really) for good care and treatment. Names and exact specialties of doctors or specialist physical therapists who we can contact, would be immensely appreciated. What are the effects and the side-effects of growth hormone treatment in this particular case?

posted by carmina to Health & Fitness (10 answers total)

You're right that it's rare. A few cursory pubmed searches lead me to this article, which may be interesting:

Growth hormone benefits children with 18q deletions.

(Email me if you need the full article - I may be able to get it for you)

If you're inclined to try digging a little more yourself, Pubmed is the place to look. Ideas for search terms:

18q chromosomal deletion syndrome treatment study hormone clinical trial outcome prognosis
posted by chrisamiller at 7:16 PM on January 14, 2007

I think you'll get more hits if you use "chromosome" instead of "chromosomal".
posted by Steven C. Den Beste at 7:49 PM on January 14, 2007

This kind of rare disorder is usually managed best at large university hospitals. The clinical genetics and pediatric neurology departments at Columbia in northern Manhattan are decent; I worked with them extensively during my own training.

Your description of developmental delay isn't accurate; the things you describe aren't things a 6-month-old should be doing. I'm nitpicking; I realize you're saying that someone has diagnosed the infant with developmental delay. Developmental delay that's already noticeable at 6 months of age is quite likely to progress to be profound. No parent is ready to hear this, ever; what's important is getting the parents plugged in to a medical network with a lot of resources so that, as they are ready to accept certain facts, they can get the help they need in dealing with them.

I can tell you that when unusual disorders are diagnosed, docs search through PubMed just like you might, looking for anything like the growth hormone study chrisamiller found. Other than that, careful surveillance during childhood and recognition and treatment of problems as they arise are the mainstay of the doc's job in these cases.
posted by ikkyu2 at 9:41 PM on January 14, 2007 [1 favorite]

Response by poster: chrisamiller, thank you. I can get to Pubmed and other online resources like that.

Your description of developmental delay isn't accurate; the things you describe aren't things a 6-month-old should be doing.

ikkyu2, the child does not show any significant sign of retardation. Some delay yes, her own pediatrician did not pick on that. She was diagnosed when she went in for treating cleft palate and the surgeon suggested she got checked (DNA screening).
posted by carmina at 10:10 PM on January 14, 2007

carmina: I think what ikkyu2 is referencing is this:

but a slightly delayed development, physically (she is not able to sit by herself) and mentally (does not try to use any words).

That, in and of itself, is not cause for alarm with a 6 month old.

However, the DNA screening pretty much makes this a moot discussion.

I sincerely wish the best of luck to your friends, as they are going to need it.
posted by Ynoxas at 10:55 PM on January 14, 2007

We've just lost an unborn baby to a different chromosome abnormality.

What I was told was that all chromosome abnormalities come with varying degrees of symptoms, from unnoticeable through to incompatible with life (in our case).

A couple of thoughts that may or may not be helpful:
- The developmental delays you mention seem irrelevant. A 6 mo should not be forming words unless massively advanced
- The cleft palette may in fact be a symptom (and in fact could be the only symptom) of the chromosome abnormality.
posted by pivotal at 10:56 PM on January 14, 2007

I have a niece, born last year who has been diagnosed with a rare chromosome 3 abnormality - there are supposed to be only about 4 others like her. ikkyu2 is probably right in that it is hospitals that provide the best grapevine to any other similar cases for a rare condition like this - large hospitals tend to be very good at this. As I understand it, however, the fact that two children may actually share the same chromosomal condition does not necessarily mean that they both have the same mix of symptoms or symptom severity.

Remember that while the cause of a condition may be very rare the methods for treating the symptoms - such as language learning difficulties - are well established and widely available. I guess I am saying that your friends might be best talking to somebody at their nearest large teaching hospital (in Greece?) and taking advice from there rather than immediately travelling to a centre overseas.
posted by rongorongo at 2:01 AM on January 15, 2007

A friend of mine has a child with 18q minus syndrome. It's been hard on her, as you can imagine, so my sympathies go out to your friend.

I second the idea of going to a large university hospital. Don't be afraid to ask them about their experience dealing with genetic disorders. Try to get hooked up with a good team of therapists (speech therapy, physical therapy, occupational therapy) that work closely with one another.

If you visit www.chromosome18.org you'll find an advocacy organization for parents and individuals with 18q minus syndrome. Perhaps they could help support the parents as they start this journey with their daughter.

Best of luck!
posted by christinetheslp at 6:02 AM on January 15, 2007

I'm a med student, and learned about this website early: OMIM--online Mendelian Inheritance in Man--it describes pretty much every genetical feature we know up to this point including most of what you're asking for.

This is an extension of NCBI--so you can search the other databases and get lots of information--including research articles--however to find the article, click on the "link" next to it on the right and then link out--some of the articles you will find links to, others you may have to pay for, but for the most part you can read the abstracts to give you most of what you're looking for as well.

But be sure to check out OMIM.
posted by uncballzer at 7:35 AM on January 15, 2007

Response by poster: Thank you all so much for the wishes and the advice. I am sorry I did not make it clear from the start (sorry esp to you, ikkyu2, good thing Ynoxas explained it to me) but the child is already diagnosed by specialists for this condition. Each and every sign by itself is not a symptom but all of them together I guess alerted the surgeon to ask for extra screening.

pivotal, I have had similar experience. It was hard for me then but facing my friends' situation I think that nature was merciful to me (and to the child).

christinetheslp: I think that's a place we will contact. It's in Texas and there's another one in Florida. The good thing is that they can provide part of the assessment and treatment from afar.

rongorongo, Greece due to small population has very few cases like that and therefore there is not really any infrastructure to rely on. Parents are kindly advised to go abroad, mindboggling, tell me about it, but true. We are thinking that time is essential (for the child to start any therapy).

uncballzer, thank you this is something we haven't looked at.
posted by carmina at 8:38 AM on January 15, 2007