Leon († 6) suffered from syngap syndrome – what is behind the genetic defect

A tragic turn is taking place in the death of little Leon. His own father may have killed him – and drowned the six-year-old in Sankt Johann in Tirol. It is unclear what role his son’s serious illness played in this. In an interview with FOCUS online, top profiler Axel Petermann considers it to be “quite possible”.

Nursing situations at home are also extreme burdens for the parents. Petermann adds: “In extreme cases, something like this can eventually lead to a fatal knee-jerk reaction.”

It is all the more important to seek professional help when in doubt. Due to the current case, little Leon’s illness has become the focus of public attention. We clarify the medical background.

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Syngap Syndrome: This is the cause

Syngap syndrome (“SYNGAP1 syndrome”) is a rare disease caused by a genetic defect. That is, a letter in the gene code is changed. It’s practically “a small typo somewhere in the DNA,” explains Verena Schmeder from Syngap Elternhilfe in an interview with FOCUS online. In this case, it hits the SYNGAP1 gene on chromosome 6, which is responsible for the production of the Syngap1 protein.

The 41-year-old is the mother of a son with the genetic defect. With her association, she launched the “Rare Diseases Run” last year to make rare diseases better known. Because many parents only find out late what exactly their children are suffering from.

Leon was diagnosed with Syngap Syndrome at the age of 17 months. He is one of a few hundred affected worldwide. The exact numbers vary. There are no official statistics for Germany. “We currently have approximately 985 diagnosed Syngap patients worldwide,” writes the parent organization ”
Syngap Global Network
“. “But we know there are thousands of undiagnosed patients out there.”

For the first time, Dr. Michaud at St. Justine Hospital in Montreal, Canada, diagnosed the rare genetic defect that leads to various neurological problems.

This is how the rare syngap gene defect manifests itself

“In simplified terms, Syngap means that the brain produces less of the substance that calms down the synapses in healthy people after use. They remain overexcited,” explains Schmeder. “There is a kind of constant fire in my head. That disturbs perception and slows down development.”

As a result, those affected have difficulty speaking, impaired fine motor skills, suffer from epileptic seizures and often extreme sleep disorders. According to the parents, Leon woke up up to 20 times during the night and kept screaming continuously.

Basically, syngap is a spectrum disease. That means it brings with it a bouquet of symptoms. The extent to which they are pronounced in individuals varies greatly.

Syngap Global Network lists the following common symptoms:

• intellectual disability (mild to severe)
• Hypotonia (low muscle tone)
• Global developmental delay
• Epilepsy (mild fluttering of the eyelids, short twitches, absence seizures and atonic/astatic seizures with brief loss of muscle tone)
• Perceptual disorder or perceptual processing disorder
• Delay in gross and fine motor skills
• Dyspraxia (coordination disorder)
• Speech delay (moderate to severe – many are non-verbal)
• autism
• sleep and behavioral disorders

Therapy and prognosis of Syngap

There is currently no cure for Syngap Syndrome. Early support for those affected therefore plays an important role in mitigating adverse developments. Speech therapy, occupational therapy, and physical therapy can help with syngap syndrome.

“Behaviour therapy, speech therapy, physiotherapy, occupational therapy and behavioral interventions can make life easier for those affected,” explains medical expert Christoph Specht in an interview with ”
RTL
“. Some studies have reportedly shown that ketamine, lithium and mGluR modulators such as riluzole and pomaglumetad methionil can improve behavior and cognitive function in patients with syngap syndrome – but these are more experimental, says Specht. Gene therapies could help. However, for this to happen, the disease would have to be detected at a very, very early stage. The damage caused cannot be reversed afterwards.

But experts are researching new drugs and ways to test them. For example, a new project has just started at the Charité in Berlin in the “Replacement” area. “The research team wants to develop mini-brain organoids from human stem cells and use them to investigate the effects of the mutation-disrupted signal transmission between nerve cells,” writes the Charité on its
Website
. The aim is to provide a system for testing possible drugs for Syngap syndrome.

Where parents can find help

In Germany targeted at some experts:

• Gerhard Kluger – Schoen Clinic Vogtareuth
• Celina von Stülpnagel – Schoen Clinic Vogtareuth
• André Reis – Human Genetics Institute FAU Erlangen-Nuremberg
• Christiane Zweier – Human Genetics Institute FAU Erlangen-Nuremberg

The associations mentioned can also offer parents support in their challenging situations – with tips, other contact points and simply by exchanging ideas with others who are experiencing something similar.

The current story throws the motivation, which can still be read on the “Leon & Friends” page, in a particularly tragic light: “In order to alleviate the symptoms of syngap, Leon is encouraged in all possible directions and receives therapies every day. Every development step is a challenge. Our greatest wish is to give Leon a life worth living.”