PURA syndrome most commonly causes difficulties with development and learning disability. The degree of how severely your child is affected is variable but most children have moderate-severe learning disabilities. This seems to affect how quickly they learn to move around and communicate. Many children with PURA syndrome are not able to walk independently or speak. Parents of children with PURA syndrome report that children often have a reasonable understanding when they are spoken to (receptive speech).
In most cases, there have been difficulties from the newborn stage. These may include having difficulty with feeding, difficulty with breathing, keeping their body temperature normal, floppiness or low muscle tone (hypotonia) and being very sleepy. Low muscle tone (hypotonia) is often more obvious in the newborn period but can last into adulthood. This can contribute to developmental delay, feeding problems and breathing difficulties.
Feeding difficulties include difficulty taking in feed volume, evidence of discomfort or reflux with feeds or the feed accidentally going into the lungs rather than stomach (aspiration). To help your child get the nutrition they need, they may need a feeding tube inserted through the nose into the stomach (nasogastric tube). If this appears to be required longer term then consideration may be made for a tube to be inserted surgically directly through the abdominal wall into the stomach (gastrostomy).
The breathing difficulties may be that your child’s breathing is slower and shallower than you would expect or there are periods when there are long pauses between breaths (apnoea). They may need supplementary oxygen. Rarely children with PURA syndrome require an operation to create an opening through the neck into the windpipe/trachea (tracheostomy). These difficulties normally show improvement in the first year of life. However at times of illness children may need additional help with their breathing.
We also know that PURA syndrome can cause seizures/fits, epilepsy, abnormal movements and affect the bones, gut, eyes and hormones.
Seizures and epilepsy are commonly seen in PURA syndrome. The types of seizures vary and your child may have multiple seizure types.
Bone problems include; incorrect alignment of the spine (scoliosis), hip joint instability (hip dysplasia) and thin bones with an increase risk of fractures (osteopenia). Vitamin D levels have been reported to be low in a number of patients.
Gut problems include difficulty swallowing and constipation. Other feeding difficulties have been discussed above.
Eyes may be involved with short or long-sightedness, squints or abnormal eye movements.
There have also been reports of problems with puberty and the development of the heart and renal tract (kidney and bladder). However, more research is required to understand whether these cases are significant.
As we identify more children and adults affected by PURA syndrome, we hope to better understand the syndrome and its affects.