Diagnosis and Treatment
How is SCAR12 or WOREE syndrome diagnosed?
To date, WWOX related syndromes have been diagnosed using Whole Exome Sequencing [WES]. Exome sequencing, is a genomic technique for sequencing all of the protein-coding region of genes in a genome (known as the exome). These regions are known as exons and humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. This technique is much faster (and affordable) than sequencing the entire genome, known as Whole Genome Sequencing [WGS], which could take a very long time to complete and still remains very expensive. More recently, WWOX is starting to be included in Targeted Gene Panels tests. Targeted Gene Panel Testing is a technique in which a number of specific genes that are linked to a particular genetic condition are examined at the same time. This further reduces the cost and time involved in reaching a diagnosis. Most Early Infantile Epileptic Encephalopathy Panels in the USA now include WWOX and it is expected that other regions around the world may include WWOX on their preferred panels soon.
What treatment exists?
At present, there is no medical intervention or cure for WWOX-related syndromes. The WWOX Foundation in association with our research and medical partners are working hard to change this reality. Currently, conventional medical treatment is focussed on suppressing seizures with the use of anticonvulsant medications. However, physical therapy and occupational therapy is crucial to maintain our children’s muscle tone, posture and to keep them cognitively engaged.
Palliative care is also provided to patients and their families with the aim of reducing the severity of disease symptoms. The primary goal of palliative care is to optimise the quality of life. Palliative care is a family-centred model of care, meaning that family and carers can receive practical and emotional support.
A number of therapies and approaches are used to manage the symptoms of SCAR12 or WOREE and include:
A variety of anticonvulsant medications are typically trialled in an effort to find one that works most effectively. WOREE syndrome is largely refractory to most anticonvulsant medications and most parents report that their children’s medications require frequent adjustment.
The ketogenic diet has also been deployed to varying degrees of success. In some cases the implantation of a Vagus Nerve Stimulator (VNS) has led to some improvement.
The WWOX Foundation in conjunction with our research and medical partners are working hard to identify the most appropriate conventional medications for our children, but parents are advised to follow the guidance of their child’s neurologists as each child is different.
WOREE syndrome impacts our children’s ability to safely swallow liquid and food and as they age this becomes increasingly difficult for them. Unsafe swallowing increases the risk of our children aspirating fluid and particles in to their lungs which may result in aspiration pneumonia. Unfortunately, this could prove lethal to our children due to their profound level of impairment.
As a precautionary measure, doctors would recommend the initial use of a nasogastric feeding tube and then followed by a gastrostomy as a long-term solution.
A gastrostomy is an opening placed directly into the stomach. The opening comes out onto the skin of the abdominal wall somewhere between the belly-button and the lower ribs, and is usually slightly to the left side. It allows food and medications to be placed directly into the stomach.