STXBP1 Syndrome

STXBP1 is an important gene for normal brain function which plays a vital role in the process of nerve cells communication. STXBP1 is a very rare disorder caused by random changes in the gene (located in chromosome 9) leading to seizures, global developmental delay, motion impairments and most of the patients are nonverbal.

There are about 400 cases worldwide and according to a Danish study conducted in 2016 the disorder incidence in the population is about 1:92,000 (Stamberger et al., 2016). However as with other rare diseases there are probably additional cases that are yet to be diagnosed.

Symptoms

In most cases seizures appears from the first year and even from the first days of the patients' lives and according to several studies STXBP1 is one of the main genes leading to early onset epileptic encephalopathy (Allen et al., 2016, Helbig et al., 2016). In some cases patients may suffer from uncontrolled very frequent and severe seizures called Ohtahara syndrome, or from West syndrome which include stiffening seizures (spasms). Additional symptoms of STXBP1 disorder are global developmental delay, motion impairments including ataxia, dystonia and hypotonia. In large number of cases patients are not able to walk or sit unsupported. Some of the children are diagnose with autistic features and the majority of the patients are nonverbal.

Treatment

Current treatments only targets the disorders' symptoms. Several dozen anti-epileptic drugs are used by different patients worldwide starting from the first days of their lives, some of these drugs may help control patients seizures while others won't.

Children also receive allied health therapies including Physiotherapy (PT), Occupational therapy (OT), and Speech therapy (SLP) which may use communication boards or eye gazing system. Additional therapies includes Music therapy, Therapeutic horseback riding, Hydrotherapy and more. However, patients need supervision at all times and dependent on others for all day to day activities