DEE-SWAS (Night Terrors, Sleep EEG Abnormalities etc.) masquerading as Regressive Autism

  

 

One of the key points in understanding "autism" is that it is not a single biological condition. It is just a behavioral diagnosis based on observed developmental patterns involving language, social communication, repetitive behaviors and sensory differences.

That means very different biological conditions can produce children/adults who all outwardly appear some version of “autistic.”

A striking example of this was recently shared with me by one of our readers.

 

A Child Diagnosed with "autism"

The parents noted severe developmental regression accompanied by unusual sleep disturbances and night terrors. Over time they also observed something very interesting, that changes in valproic acid (VPA) dosing appeared to significantly affect symptoms.

Their neurologist had performed EEGs which reportedly showed abnormalities and yet despite this, no further major investigations were ordered:

• no epilepsy-protocol MRI
• no prolonged 24-hour EEG
• and no comprehensive workup for epileptic encephalopathy.

Meanwhile, the family pursued extensive genetic testing searching for answers.

This is unfortunately an increasingly familiar story in developmental medicine, a child receives a behavioral autism diagnosis, and the diagnostic process effectively stops there.

 

Seeking a second opinion

The family eventually attended a specialized pediatric neurology clinic at a major children’s hospital.

The difference was immediate.

After reviewing EEGs, videos before regression, videos after regression and recordings of the child’s sleep terrors, the specialists concluded that the child fit the modern framework of:

DEE-SWAS
(Developmental and Epileptic Encephalopathy with Spike-and-Wave Activation in Sleep)

The older terms for overlapping conditions include:

• ESES (Electrical Status Epilepticus in Sleep)
• CSWS (Continuous Spike-Wave During Sleep)
• Landau-Kleffner syndrome

The clinic immediately ordered:

• epilepsy-protocol MRI
• prolonged 24-hour EEG
• metabolic investigations
• ophthalmologic evaluation
• orthopedic assessment

Most strikingly, they reportedly stated that this looked like:

“DEE-SWAS masquerading as autism.”

 

What Is DEE-SWAS?

DEE-SWAS is increasingly understood as a disorder of abnormal brain network synchronization during sleep.

The key issue is not simply seizures. Some children have obvious seizures, others do not.

In many children, pathological spike-wave activity during deep non-REM sleep may interfere with:

• language development
• memory consolidation
• emotional regulation
• cognition
• attention
• and developmental plasticity itself.

Some primarily present with:

• regression
• loss of speech
• autistic behaviors
• sensory abnormalities
• emotional dysregulation
• fluctuating cognition
• sleep disturbance
• night terrors.

In many cases, the child outwardly appears to have classic regressive autism.

 

Why night terrors matter

Night terrors are usually benign in ordinary children.

However, in the context of

• developmental regression
• abnormal EEGs
• fluctuating cognition
• or epileptiform activity

they become much more significant.

DEE-SWAS specifically affects deep slow-wave sleep — the same sleep stage associated with night terrors and abnormal arousal phenomena.

This does not mean every child with night terrors has epileptic encephalopathy.

But regression plus unusual sleep phenomena should raise suspicion that a prolonged sleep EEG may be warranted.

 

Treating the EEG to treat the child

One of the most interesting concepts in modern DEE-SWAS research is:

“Treating the EEG to treat the patient.”

The concern is that the abnormal sleep spike-wave activity itself may drive the developmental deterioration.

Treatments used include:

• valproic acid
• clobazam
• clonazepam
• steroids
• ketogenic diet
• acetazolamide (Diamox)
• ethosuximide
• and in some cases surgery.

Ethosuximide is particularly interesting because it is a T-type calcium channel blocker that affects thalamocortical spike-wave synchronization.

The thalamus appears to play a major role in generating these pathological sleep oscillations.

Ketogenic therapies and ketone esters are also fascinating because they may:

• stabilize neuronal metabolism
• reduce hyperexcitability
• alter glutamate/GABA balance
• and improve network stability during sleep.

 

For more information on treatment:

Treatment of Developmental/Epileptic Encephalopathy With Spike-Wave Activation in Sleep

Is DEE-SWAS Rare?

Officially, yes. But many experts suspect it is significantly under-recognized.

Why? Because many children with:

• regression
• autism
• language loss
• or sleep problems

never receive a prolonged sleep EEG monitoring.

A short daytime EEG may miss much of the pathology.

This is especially important because some children may improve substantially when the abnormal sleep-related epileptiform activity is treated.

DEE-SWAS is likely a spectrum from mild to severe. The underlying cause varies, but often is thought to be an anomaly in an ion channel (calcium, sodium, potassium).  

Autism is just a behavioral phenotype

Cases like this reinforce an increasingly important idea.

“Autism” represents a common behavioral phenotype arising from many different biological mechanisms.

For one child:

• synaptic dysfunction may dominate.

For another:

• mitochondrial dysfunction.

For another:

• immune dysregulation.

And for another:

• sleep-activated epileptiform encephalopathy.

The behavioral presentation may look similar, while the biology underneath is profoundly different. The treatment will also be different, although there are surprising overlaps.

 

Conclusion

DEE-SWAS is not just a case of a bad night’s sleep.

The concern is months or years of abnormal electrical activity repeatedly disrupting the brain during one of its most critical developmental states.

In DEE-SWAS the brain spends large portions of deep sleep in a pathological synchronized firing mode instead of normal developmental processing.

Over time this may interfere with language acquisition, cognition, emotional regulation and developmental plasticity itself, potentially leading to developmental regression and a child who outwardly appears to have regressive autism.

This post is not suggesting that most regressive autism is actually DEE-SWAS, but some clearly is.

However, children with:

• clear regression
• fluctuating abilities
• sleep deterioration
• night terrors
• language loss
• episodic worsening
• or unusual EEG findings

deserve more extensive neurological investigation than they often receive.

The father who contacted me persisted despite initial dismissal and eventually reached a centre experienced in developmental epileptic encephalopathies.

That persistence may prove extremely important for their child’s future outcome.