As a neonatologist there is much important pediatric literature that I do not follow. There is much that has relevance to what we do in the NICU, so much that no-one can keep up with it all.
Many of us are involved in antenatal counseling, and we need to try and stay informed about the long term consequences of the antenatal diagnoses, which is rather a challenge, with everything else we should know, but I will try and help!
A recent comment from a parent on this blog referred to the following paper, which I followed up and found extremely interesting: (Braddock B, McDaniel J, Spragge S, Loncke F, Braddock SR, Carey JC: Communication ability in persons with trisomy 18 and trisomy 13. Augmentative and Alternative Communication 2012, 28(4):266-277.) the authors analyzed the communication skills of some adolescent and young adults who had trisomy 18 and 13. They found that they all were able to express some of their needs, although none of this very small group of 10 individuals had recognizable words, they could all vocalize. Their understanding was greater than their ability to express, and they mostly were able to use hand gestures. Some of the commenters on this blog, and a few other publications, report that there are persons with these trisomies who are able to produce some recognizable words.
I think it is important to know the abilities of children such as these, not just their disabilities. To have an idea of what they can do rather than just to focus on what they can not do. Counseling parents with balanced information necessitates that we know some of this information. Even with the help of this blog though, you won’t be able to keep up with everything, so it is a good idea to have some readily available resources, and in today’s wired world, there are some good sites where you can read about, and see, children and families living with these conditions. So if you are asked as a neonatal professional to counsel a family, and haven’t read about the outcomes of such children recently, here are some resources:
A good place to start is a parent support group, SOFT, which has a website with a lot of information for professionals :
There is a link on their home page to information for professionals, which includes a journal club by Dr John Carey, and links to many published articles.
Or you could visit the many other websites set up by groups that help support families (or just search on youtube for some very revealing video records of family experiences):