What is "macroglossia"?
      "Macroglossia" means large tongue. Judging tongue size is subjective; there are no measurements or scale for assessing tongue size. A tongue that protrudes from the mouth, seems too big for the mouth, requires voluntary action to keep it in the mouth and/or causes deformity of the jaws and teeth is called macroglossia.

What causes macroglossia?
      The tongue may be enlarged as part of a systemic disorder or due to localized abnormal tissue.  Systemic disorders that commonly include macroglossia are BWS, Down syndrome, and glycogen storage diseases. Abnormal tissues that may cause macroglossia include blood vessel malformations (hemangioma, arteriovenous malformation), lymphatic malformations (cystic hygroma), and benign and malignant tumors.

Do all BWS individuals have macroglossia?
      No but the majority (about 80%) do.

What can happen to BWS individuals with macroglossia?
      Most BWS individuals will become orally continent of their tongue (they can keep their tongue in their mouth) by first grade. This requires voluntary effort, however. The tongue often will protrude, as with non-BWS children, when a task is concentrated on. This may cause social problems for the BWS child because his/her tongue is so much bigger than the other children's.
     Most BWS individuals with untreated macroglossia will have progressive overgrowth of their lower, and sometimes upper, jaw and excessive separation between their teeth ("splaying").

What is the purpose of tongue reduction surgery?
      Tongue reduction surgery is performed to destigmatize the affected individual and to minimize the negative affect of the large tongue on tooth and jaw development.

Does tongue reduction surgery help or hurt speech?
      Tongue reduction does not seem to affect speech either positively or negatively. About half of the BWS individuals we have treated or evaluated have normal speech and about half need speech therapy. This is true whether or not they had tongue reduction. Of the children needing speech therapy, none of them have had trouble with tongue tip sounds and all of them have other risk factors  associated with the need for speech therapy (chronic ear disease, hearing loss, family history of speech/language disorders, prematurity, delayed development). 

Does tongue reduction surgery help or hurt breathing?
     Tongue reduction does not seem to improve the ability to breathe. A minority of BWS individuals do have breathing problems. These are usually related to their lungs but may be due to blockage (obstruction) of the throat (upper airway) known as "obstructive apnea". This problem is usually more severe during sleep and is seen a breath holding episodes. This can be a life threatening problem and, if observed, should be discussed with your child's primary healthcare provider. 
     Certain types of tongue reduction (mid and back of tongue) may be associated with postoperative breathing problems. Operations on the front and side of the tongue usually do not interfere with breathing.

What happens to individuals with BWS who do not have tongue reduction?
      Older BWS individuals without tongue reduction usually can keep their tongue in their mouth but may have it protrude when they concentrate on another task.  They usually have continued overgrowth of their lower jaw with spreading of the teeth. This can be corrected in the teen years with a combination of orthodontics and jaw ("orthognathic") surgery.

Will early tongue surgery guarantee that jaw surgery will not be needed later?
      No. It is impossible to know the long-term growth outcome for any infant whether they are normal, have BWS or any other birth defect. Healthcare providers can make an educated guess, based upon experience with other older individuals with the same condition, about the benefit of tongue surgery. From this experience, we can expect that the jaw overgrowth and tooth spreading will be minimized with early tongue reduction surgery.

When should tongue reduction surgery be performed?
      I prefer to do tongue reduction before eruption of many of the baby teeth to minimize the deformity of the teeth and jaws that the large tongue can cause. The younger the child, the easier the postoperative course. When I am consulted by parents of a newborn with BWS, I recommend tongue reduction surgery between 3 and 6 months of age if the infant is a candidate. If the infant is having other health problems, such as breathing or feeding difficulties or abdominal tumors, these should be resolved prior to tongue reduction. As long as the infant is healthy, the choice of timing is up to the parents or legal guardians.

What if my child is older than an infant and has not had tongue surgery?
      Tongue reduction can be done in older children if there is a persistent problem with protrusion of the tongue from the mouth or progressive deformity of the teeth and jaws (your local children's dentist should be able to advise you on this). While the psychological benefit is the same regardless of age, the benefit for the teeth and jaws is less predictable in older individuals.
   
Is tongue reduction ever done in teenagers or adults?
      Occasionally tongue reduction is performed in an adolescent or adult prior to jaw surgery because of concerns about relapse after the surgery and removal of the orthodontic appliances.

What is done during tongue reduction surgery?
      Some portion of the tongue is physically removed by cutting. After bleeding is controlled, the cut edges are sewn ("sutured") together.
     Two basic kinds of tongue reduction operations are performed: front/side reduction and back ("keyhole") reduction. I only perform front reduction since it more effectively allows tailoring of the reduction, shaping the anterior tongue, and minimizing the risk of airway (breathing) problems in my experience.

How long is the operation?
      The operation I perform takes about one hour.

Is blood transfusion necessary?
      I have never had to perform a blood transfusion for a tongue reduction patient.

What about the aftercare?
      I keep my patients in the intensive care unit the night of surgery to observe their breathing. The next day they move to a regular room. They may resume oral feeding as soon after surgery as they are willing. Usually this is 3-5 days later but has been as fast as the next day in a few cases. There is no special care for the tongue. The child is given pain medicine by intravenous or by mouth. The stitches are dissolving and may take as long as 3-4 weeks to completely come out.

What about taste after tongue reduction?
      With the front/side reduction, the major taste buds are not removed, Because most tongue reductions are done in babies, we cannot test their taste before surgery. Parents tell us that their BWS child following tongue reduction seems to develop the same variety of food likes and dislikes as his/her unaffected siblings.

What are the risks of tongue reduction surgery?
     All operations have the usual risks of reaction to anesthesia, bleeding, wound healing problems, tissue loss and permanent deformity.
     The specific risks from tongue reduction surgery are reduced tongue motion, reduced tongue feeling (sensation), and physical deformity of the tongue. The major complication is problems with breathing after the operation. In the worst case, this would mean that a tracheotomy (hole in the windpipe in the front of the throat) would be necessary after the surgery for a period of time. I have not had this complication since adopting the front and side of the tongue operation I have performed for the past 16 years for BWS individuals. I have examined individuals who have had this complication following other kinds of tongue reductions.

How do I know if my BWS child should have a tongue reduction?
      No medical decision, especially one about surgery, should be made without an in-person examination. A few surgeons have become familiar with BWS by providing care for many such children. Sending such surgeons a letter or e-mail communication containing a brief summary of the child's medical history and photos (face front and side with maximum and minimum tongue protrusion, if possible) can be a useful way to begin the discussion of whether to come for a consultation. This consultation should consist of a full medical history and physical examination and a discussion of the benefits and risks of the operation, the timing issues, and the expected outcome. We provide parents the opportunity of speaking to other parents with BWS children who have undergone tongue reduction surgery. It is appropriate to ask for this service as well.
     In my medical practice, I treat many patients from far away. While I still prefer to meet the parents and examine the child some time before the surgery, not all families can afford the expense or time of several long distance trips. In such cases, we communicate by e-mail and/or phone, and then do the pre-operative visit a few days before surgery. If the child has other medical problems, such as persistent low blood sugar, abdominal tumors, breathing difficulties, heart problems, etc, full medical records are sent to my office for review before the pre-visit. The family is informed that if our anesthesiologists and pediatric medicine specialists do not feel it is safe to perform elective surgery, the operation will be canceled.

What kind of long-term care should my BWS child have regarding facial growth and development?
      Because tooth and jaw maturation does not occur until mid to late teens, the individual with BWS should be followed until then. The best way to have your child followed is through a "craniofacial team". A craniofacial team is a group of health care professionals who specialize in evaluation and treatment of birth defects of the head. Our team consists of health care professionals from the following disciplines: audiology, dentistry [children's dentistry for those under 8 years plus orthodontics and oral-maxillofacial surgery for children 8 years and older], ENT, nursing, plastic surgery, psychology, and speech/language therapy. In some areas, the craniofacial team is referred to as the cleft lip/palate team. Most children's hospitals and many major medical centers have craniofacial teams. A list of craniofacial teams in your region can be obtained from the Cleft Palate Foundation [1-800-24-CLEFT][CPF National Office / 104 South Estes Drive, Suite 204 / Chapel Hill, NC 27514 / Phone: (919) 933-9044 / Fax: (919) 933-9604].
     In our craniofacial center, we perform a full team evaluation once a year at ages 1-4 years and then every two years from 6-18 years. If additional evaluations or interventions are necessary, they are scheduled. We send the parents a written report about the findings and recommendations and send a full medical report to the child's local healthcare professionals.
     If craniofacial team care is not available, the child should have, at the minimum, speech/language and dental evaluations on the same schedule with the addition of orthodontics in late childhood. If the child has any speech/language concerns, a hearing test and examination by an Ear, Nose and Throat specialist should be included.
     Please note: abdominal ultrasound screenings and AFP blood tests for tumors are not part of a craniofacial team and should be obtained, as recommended, through your local pediatrician, geneticist or oncologist.

Dr. Marsh

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