Chromosome 6p Deletion and High Arch Cleft Palate

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Answer

Your daughter is probably being followed by a craniofacial team, where the variety of her needs can be addressed and responded to in a coordinated manner. As you well know, the variety of physical and mental abnormalities involved with deletion of the short arm of chromosome 6 include ear and eye anomalies, congenital heart defects, and a high arched palate, to name just a few of the many features that characterize this syndrome. You asked specifically about surgical closure of the high arched palate, and that will be addressed here.

The treatment decisions made so far by the craniofacial team are appropriate. I sympathize with the difficulty in keeping ear tubes in place. This verifies to me that there are variations in the anatomy of the ears and auditory canals, but as you know, some level of deafness is a characteristic of this syndrome.

Even though the two years of speech therapy have not resulted in any speech, the therapy has probably been very useful as "diagnostic therapy". My guess is that therapy has not only been geared to stimulating for speech, but also to reveal more about your daughter's cortical and physical capabilities and deficits; thus the "diagnostic" aspect of the speech stimulation.

It may be confusing to you that the surgeon wants to defer closing the cleft palate until speech is developed, since palatal closure is usually done to encourage speech development. From a surgical perspective, however, the surgeon wants to select the very best opportunity and right reasons to perform a successful surgical closure of the palate. This decision involves not only the amount of tissue available and the geometry of the palatal shelves but also, the physical ability of the patient to tolerate the procedure. Also, the expectations for what will be accomplished by surgery should be weighed. While feeding may be aided to some extent, speech development would not be expected to occur simply because the palatal cleft has been repaired. With the myriad of problems associated with the chromosome 6p deletion syndrome, the risks and expectations from performing palatal surgery require careful consideration, which is obviously being done by your team.

Overall, there may be several reasons for deferring closure of the palate, and the height of the palatal vault or lack of sufficient tissue may loom as key factors to the surgeon. I share the surgeon's reluctance about closing the palate. To specifically answer your question about obtaining a second opinion, I see no need for this. It seems to me that your daughter's team is functioning effectively and appropriately. Hopefully, continued speech and language development will help to sort out the risks and benefits of any eventual palatal surgery. In the meantime, I understand and sympathize with your desire for your daughter to blossom in speech development and other areas. Being patient is difficult, especially when the path is long. I share your hope for some improvments in the near future.

Robert M. Mason, DMD, Ph.D., is a speech language pathologist (CCC-ASHA Fellow), a dentist, and orthodontist. He is a Past President of the American Cleft Palate-Craniofacial Association, a professional, interdisciplinary organization specializing in problems associated with facial and oral deformities. Dr. Mason has studied and written extensively about orofacial examination, developmental problems related to the tongue, and the anatomy and physiology of the speech and hearing mechanisms. His reports have appeared in speech, dental, medical, and plastic surgical journals and texts. He is considered to be an expert in tongue thrusting, tongue tie, and other problems related to tongue functions and speech.