Content for Families, Carers and Professionals

Gastrointestinal Problems - What we've learnt

Over the last few years within our social networking groups, several children with CDKL5 have died from complications associated with gastro-intestinal difficulties. CDKL5 UK has been asked to highlight these difficulties by those families affected in the hope that further deaths due to these problems might be prevented in the future.

It is generally recognised that children with neurodevelopmental delay are prone to gastro-intestinal problems. The two commonest difficulties are gastro-oesophageal reflux and constipation, although other problems can occur. It is not completely understood why these problems arise, but they may be related to low tone which is often present the gut, from low gut motility and from other factors such as autonomic dysfunction. We know that many children with CDKL5 suffer from constipation and we also know that if left untreated problems can arise.

These are just two cases we are aware of. 

The first is a young adult who died suddenly from a volvulus, which is a rare condition where the bowel twists on itself. Her mum told us that although she had never obviously suffered from gastro-intestinal problems and particularly constipation before, she felt that this may have been a hidden problem for her daughter. We have found from talking to other families, that some children do have a tendency to "hide" constipation. The child may not want to eat, may have lots of excess gas and ultimately be in severe pain. Part of the problem, as many of you will know, is that it can be very difficult to know not only if a child with a neurodevelopmental disorder like CDKL5 is in pain but also where it is coming from. This can lead to a very inconsolable and distressed child.

Another child developed an intussusception, a condition where part of the intestine invaginates into an adjacent section of intestine. In this case, there was a delay in making the diagnosis, by which time, her bowel had ruptured and it was too late to save her. This again, highlights the need to be mindful of potential gastro-intestinal problems within this population of children who can have difficulties in expressing, who are not verbal and are therefore unable to articulate where their pain is. 

Although, within this post, we have highlighted two children who have died, there are others within our group, both children and adults, who have been diagnosed. Likewise there are a number of children and young people that are living with gut failure and this in itself has led to considerable gastrointestinal surgical procedures for these patients. We therefore strongly urge parents of children with a CDKL5 disorder or any other neurodevelopmental disorder, to remain vigilant of their child’s bowel function and needs, and to seek specialist advice via their family medical practitioner if they have any concerns.  

In 2013 we presented a poster at the European Rett Syndrome Conference in Maastricht, The Netherlands. It can be downloaded here Gastrointestinal Problems in children with a CDKL5 Disorder: A Parent-Led Survey 

For more information on both conditions highlighted here please visit: