Macroglossia in BWS

A large number of children who have macroglossia associated with Beckwith Wiedemann Syndrome (BWS macroglossia) have been seen at Great Ormond Street Children’s Hospital since 1994. Great Ormond Street Hospital was designated in April 2012 by the NHS Advisory Group for National Specialised Services (AGNSS) as the national service for children with this condition. For more information about this service please see the page entitled “Multidisciplinary Beckwith-Wiedemann Syndrome with Macroglossia Service”

The information provided in this section on macroglossiais based on our experience of seeing children with this condition at Great Ormond Street Hospital and the research we have carried out.

What is macroglossia?

Macroglossia means large tongue. Judging the size of the tongue is subjective as there are no existing measures for assessing tongue size. Evaluation of the enlarged tongue is based on both clinical and functional assessments of the tongue.

How often does macroglossia occur in BWS?

Macroglossia is reported to occur in approximately 82%- 97% of cases and is one of the most common features of BWS.

What does the tongue look like?

The enlarged tongue can be altered in three dimensions; height, width and depth. There can be enormous variation in the size and shape of the enlarged tongue from individual to individual. Here are some examples:

It may be long and protrude out of the mouth to varying degrees.
The thickness of the tongue may vary greatly.
It may be thickened at the base of the tongue which can make breathing difficult.
It may be asymmetrical and bigger on one side compared to the other.
It can be wide and may not be accommodatedinside the teeth which may result in the tongue being bitten on the lateral margins
Some of the children that we have seen also have a tongue tie in addition to having a big tongue. When a tongue tie occurs it can mask how big the tongue is.

In BWS, the large tongue is usually noticeable at birth. It often becomes less prominent in the first year of life as the infant grows. Usually the muscle tone of the tongue is normal unless the child has other difficulties that can cause muscle weakness.

What are the secondary effects of the macroglossia?

What effect the large tongue has, is dependent to some extent on the size and shape of the tongue. The following is a list of all the effects that we have observed:

Changes to appearance

The tongue may protrude out of the mouth for some of the time, most of the time and in some children all of the time.
The degree of tongue protrusion may vary in different situations. For example, it may protrude more when the child is tired or concentrating. There is also a tendency for tongue protrusion to increase while the child is babbling/talking.
The tongue may rest inside the lower lip causing the lip to protrude and appear “floppy”.
It may cause increased spacing between the teeth (“splaying of the teeth”).
It may cause an anterior open bite which is a gap between the upper front teeth and the lower teeth.
It may cause the lower jaw to protrude further than the top jaw.

Respiratory/upper airway difficulties

The child may have to sleep with his/her mouth open which can cause the tongue to become dry or cracked.
Your child may be more susceptible to upper respiratory tract infections.
A few children have difficulties with breathing caused by thickening at the base of the tongue as this can block the upper airway. If you have any concerns about breathing you should discuss this with your doctor.

Feeding difficulties

In infants, breast or bottle feeding may be difficult if the child has breathing difficulties.
The baby may be unable to make a good seal around the teat of a bottle or nipple because of the tongue size.
Movement of the tongue during eating may be restricted making it difficult to chew and control the food within the mouth during eating.
As the child develops teeth, the child may sometimes bite the tongue during eating if the tongue rests over the margins of the teeth. If you have any concerns about feeding you should discuss this with your doctor. You may need a referral to a speech and language therapist who specialises in feeding difficulties.

Speech difficulties

Surprisingly, macroglossia has little impact on the development of speech unless it is extremely large. However, it does effect the way the child looks when he/she talks. Here are some examples:

In the normal speaker, tongue tip sounds /t, d, n, l, s, z/ are produced with the tip of the tongue behind the upper teeth. When the tongue is large, it can be difficult to place the tongue tip behind the upper teeth and the child produces these sounds with the body of the tongue against the bottom of the top teeth instead.

Normal production of the sounds f and v may be difficult.

Some children with an enlarged tongue are unable to produce the sounds p, b, and m with both lips together which is the normal way to produce these sounds and they make these sounds with the tongue against the top lip.

All the changes to speech production mentioned above will not affect the clarity of speech but will change the way that the child looks when talking.

Your child may have speech difficulties for other reasons unrelated to macroglossia. Common causes of speech difficulties are hearing impairment, developmental delay and a family history of speech and language difficulties.

Others effects

Increased dribbling/drooling may occur. This can also be caused by other reasons unrelated to macroglossia, for example, teething or developmental difficulties.

What are the management options for macroglossia?

Tongue Reduction Surgery

Tongue reduction surgery aims to reduce the length, width and bulk of the tongue. After surgery, the tongue should be able to rest inside the mouth behind the front teeth but be able to protrude and moisten the lips. A successful operation should leave no visible scarring on the tongue and good mobility of the tongue for feeding and speech. From our experience, tongue reduction surgery can provide several benefits which are as follows:

Reduction in tongue protrusion and therefore cosmetic improvement.
Improvement in the visual appearance of speech as the child no longer talks with the tongue protruded.
Feeding difficulties and drooling may be reduced or resolved as long as the problems were only caused by the large tongue.

There is no concensus as the best age to carry out the surgery but generally under the age of two years is thought to be favourable to prevent the lower jaw from being pushed forward..

Not operating

Surgery is not always recommended in all cases of macroglossia. In some cases the macroglossia may be too mild to warrant surgery. If your child has other medical problems surgery may not be advocated. Additionally, some parents feel that they do not wish their child to undergo an operation of this nature.

Speech Therapy

If a child has a true macroglossia, speech therapy aimed to encourage the child to keep his/her tongue within the mouth is not a management option. However, your child may have poor oral motor control, speech and feeding difficulties for other reasons. If you have any concerns at all about your child’s speech, oral motor skills or feeding skills your child should be referred to a speech and language therapist

Management recommendations for BWS children with macroglossia

A child with BWS macroglossia should be assessed by a specialistteam with experience of seeing a large number of children with this condition and evidence of successful surgical outcomes. This is in addition to other medical professionals that your child may need to see for other aspects of their care.

The service at Great Ormond Street Hospital consists of aspeech and language therapist, a plastic surgeon and an orthodontist. The speech and language therapist will assess your child’s speech and language development, oro-motor skills, and feeding skills. The orthodontist will assess your child’s dentition and facial growth. The plastic surgeon will discuss the surgical options and the timing of the surgery. A specialist team will take into account your child’s medical and developmental history when making management recommendations.

Whether or not your child undergoes tongue reduction surgery, it is recommended that he/she regular orthodontic checks and speech therapy assessments to monitor the development of their dentition, speech, feeding, oro-motor skills and facial growth until facial growth is completed in late to mid teens.

Caroleen Shipster, MSc, MRCSLT, CCC Lead Clinican for the Beckwith-Wiedemann with Macroglossia Service
Speech and Language Therapy Department
Great Ormond Street Hospital for Children NHS Foundation Trust London WC1N 3JH