Beckwith-Wiedemann syndrome clinical outcomes

Clinical outcomes are broadly agreed, measurable changes in health or quality of life that result from our care. Constant review of our clinical outcomes establishes standards against which to continuously improve all aspects of our practice.

About the Beckwith-Wiedemann syndrome service

Beckwith-Wiedemann syndrome (BWS) is a congenital (present at birth) overgrowth syndrome that occurs in approximately one in 15,000 births. A syndrome is a collection of features often seen together. BWS is variable – some children have a number of features of the condition, others have only a few. The condition is named after the two doctors who recognised and described it in the 1960s.

One of the most common features of the condition is macroglossia (large tongue size). Macroglossia may cause difficulties with feeding, speech, the development of the teeth and jaws, and increased drooling.

GOSH provides a national specialised service for children who have macroglossia associated with BWS. The aim of our service is to prevent or resolve the problems associated with macroglossia and to enable the best functional outcome. Some children may require tongue reduction surgery.

Below are our clinical outcomes for the care we provide to treat macroglossia associated with BWS.

Macroglossia clinical outcome measures

The aim of tongue reduction surgery is to reduce the length and width of the tongue so it sits comfortably within the mouth and related symptoms are resolved. We measure the success of surgery by:

  • Resting tongue position
  • Frequency of tongue protrusion
  • Severity of drooling
  • Severity of feeding difficulties
  • Speech

The data below was collected by the Specialist Speech and Language Therapists during assessments approximately three months before and three to six months after tongue reduction surgery between April 2012 and March 2017. 70% of all the children referred to the service during this period were appropriate for tongue reduction surgery. 

1. Resting tongue position before and after tongue reduction surgery

Fig 1.1 Resting tongue position before and after tongue reduction surgery, 2012/13 to 2016/17

Fig 1.1 Resting tongue position before and after tongue reduction surgery, 2012/13 to 2016/17

The above chart shows that prior to surgery the majority of children (94% total for the five years) had a resting tongue position that was on or over lip, causing a range of difficulties. After surgery, all had significant improvement and 89% had the expected resting tongue position within the dental arch.

2. Frequency of tongue protrusion before and after tongue reduction surgery

Fig 2.1 Frequency of tongue protrusion before and after tongue reduction surgery, 2012/13 to 2016/17

Fig 2.1 Frequency of tongue protrusion before and after tongue reduction surgery, 2012/13 to 2016/17

While 14% total of children occasionally protruded their tongue prior to surgery, 86% total protruded their tongue most of the time or constantly. After surgery, 100% had improvement every year, with 84% total never protruding their tongue in relation to their macroglossia condition.

3. Severity of drooling before and after tongue reduction surgery

Fig 3.1 Severity of drooling before and after tongue reduction surgery, 2012/13 to 2016/17

Fig 3.1 Severity of drooling before and after tongue reduction surgery, 2012/13 to 2016/17

Prior to surgery, 61-80% of children had severe or moderate drooling. After surgery, 83-100% had mild or absent drooling, with 93% across all years.

4. Severity of feeding difficulties before and after tongue reduction surgery

Fig 4.1 Severity of feeding difficulties before and after tongue reduction surgery, 2012/13 to 2016/17

Fig 4.1 Severity of feeding difficulties before and after tongue reduction surgery, 2012/13 to 2016/17

Prior to surgery, 89-100% of children had oral stage feeding difficulties related to macroglossia. These included spilling of food or drink from the mouth, eating or drinking with the tongue protruded, difficulties with taking a mouthful of food or drink, difficulties preparing and manipulating food to swallow and increased feeding times. After surgery, more than 80% every year had no feeding difficulties related to macroglossia, with 87% averaged across all five years.

5. Speech before and after tongue reduction surgery

Fig 5.1 Speech before and after tongue reduction surgery, 2012/13 to 2016/17

Fig 5.1 Speech before and after tongue reduction surgery, 2012/13 to 2016/17

The above chart shows that prior to surgery, in children who had started to develop speech, the large protruding tongue affected the production of the anterior sounds made with the lips and tongue (blade/lingolabial speech production). After surgery, these speech patterns related to the macroglossia were eliminated and overall the anterior speech sounds were produced in the expected way for the children’s age.  

The outcomes data for the Beckwith-Wiedemann syndrome service demonstrates significant improvement in resting tongue position, frequency of tongue protrusion, drooling and feeding difficulties, and speech development.

This information was published in October 2017.