Feeding Problems

The babies with feeding problems typically had a history of gagging, vomiting, or irritability with feeds, and slow or difficult advancement of feeding volume.

Although most babies had a good suck on a pacifier and were initially interested in the nipple, many stopped sucking after several sucks or they gagged and regurgitated. After taking several ounces either by mouth or by a tube many infants became irritable, or congested.

X-ray studies (modified barium swallow) performed on many babies suggested the presence of abnormal movements of the back of the throat which increased the tendency for formula to go up into the nose.

In addition, there was inco-ordination of the opening and closing of the entrance to the oesophagus which may make it harder for the baby to clear formula from his/her throat. Some of the babies also had abnormal movement in the oesophagus which resulted in formula going up the oesophagus into the mouth rather than down to the stomach.

Additional studies (upper GI, pH probe, milk scan) in infants with recurrent vomiting often documented gastro-oesophageal reflux (food going back up in to the oesophagus from the stomach) and /or delayed emptying of the stomach.

This suggests that abnormal movement (dysmotility) may affect the entire gastrointestinal tract.

Difficulty in feeding is common with children with a 22q11.2 deletion. This is otherwise known as dysphagia or difficult swallowing and can result from problems with: moving food in the mouth; transferring food from the mouth, past the airway (trachea), and to the tube that leads to the stomach (oesophagus); or moving food down the oesophagus and into the stomach or intestines.

For babies, feeding problems can also result from interrupted or inadequate feeding practice during periods of medical instability.

Children with a 22q11.2 deletion frequently have heart or palatal problems and their feeding difficulties have previously been attributed to these conditions.

However, the severity and persistence of the feeding problems often noted are far greater than for other children with heart or palatal problems alone, suggesting that there is another factor.

Many children preferred to be spoon fed instead of bottle feeding.

This made sense in the light of the swallow studies in that the children concentrated on swallowing a single spoonful of food before they accepted the next bit of food.

Congestion sometimes continued to be a problem, although it tended to be less with spoon feeding than with a bottle.

Most of the children had little to no problem advancing with spoon feedings until they graduated up to the junior or early table foods.

Cup drinking was often more difficult for the child because of the inconsistent volume delivered by the cup and the rapidity with which the liquids flow. Therefore many children preferred to sip or gulp (consecutive swallows without taking a breath) their drinks.

This information is taken from a recent study at the Children's Hospital of Philadelphia:

Approximately 30% of children in the sample have a history of feeding difficulties.

Patients with feeding problems are not more likely to have other medical problems. For example, the frequency of heart disease, palatal problems, and calcium problems is no different in those children with feeding difficulties versus those children without feeding problems.

For the majority of the children affected parents report difficulty with feeding beginning in the new-born period. Almost half the parents describe their children as a slow feeder with 30% reporting a poor suck.

Likewise half the children have frequent vomiting with feeds. One-third had evidence of fluid from feeds coming back up into the nose. Almost one-fifth has chronic nasal congestion with liquids.

Half of children who advanced to solids has significant difficulty with chewing, refused crunchier textures, or only eating small meals.

The types of problems encountered differed depending upon the age of the child. Aspiration of feeds, where food passes down the trachea and on to the lungs, is also noted.

All but one of the older children in this study had difficulty with advancing food textures whether by avoiding lumps, crunchy foods, or accepting only a selected few foods.

Several have resorted to only accepting foods with condiments on them, others have spillage from the mouth when eating more solid foods.

Many children tended to use an immature chewing and swallowing pattern with solids that made chewing and transporting thicker foods more difficult. As a result many washed these foods down with liquids which splashed out as they transported the solid food in their mouth, while others just refused these foods.

Interestingly, this was not so much a result of abnormal oral motor skills as it was a result of limited practice related to postural problems, such as slouching.

It was found that postural problems were not specific to children with the 22q11.2 deletion, but rather for children with GI dysmotility and/or cardiac defects necessitating open heart surgery.

Treatment Strategies
Based on the interpretation of the above findings, the treatment plan recommended by the Children's Hospital of Philadelphia for patients with a 22q11.2 deletion most recently includes:

1. Evaluating and treating gastro-oesophageal; reflux, delayed gastric emptying or constipation.
2. Minimising problems with posture.
3. Minimising nasopharyngeal reflux.
4. Facilitating more mature oral motor skills with simple therapeutic techniques.

Using these approaches all of the children in the sample who have been actively treated have improved in their feeding function, whether regaining safe swallow, increasing oral intake to improve weight gain and growth or improving chewing skills

The optimum aim would be to prevent feeding problems from occurring in the first place. But first we need to have a better understanding of what is responsible for the dysmotility. Because the 22q11.2 deletion has been associated with abnormal migration of some early cells that can become muscle or nerve cells, it is not yet clear whether feeding difficulties are neurological, muscular, or related in some way to calcium abnormalities affecting these children. The good news is that function improves with good practice so that almost all children with a 22q11.2 deletion can look forward to eating and growing normally.