Study of Dravet patients shows cognitive outcomes worsening by more than 10…

A recent analysis shows that seizure severity has decreased but developmental outcomes have worsened in British patients with Dravet syndrome over the past 10 years.

Children younger than 6 years of age generally have a poorer developmental trajectory during this period than older patients, with a higher burden of comorbid conditions including autistic traits, movement problems, and behavioral disorders.

Predictors of worse developmental outcomes include more severe epilepsy and poorer language skills, as well as genetic mutations SCN1A Genes predict deeper effects.

Study reaffirms poor long-term cognitive outcomes [Dravet syndrome] The researchers wrote in the book: Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome,Published on brain communication.

In most cases, Dravet syndrome is caused by a genetic mutation SCN1A Gene. This can lead to recurrent unprovoked seizures or epilepsy (the main symptom of the disease), as well as a range of comorbidities such as developmental delays, behavioral problems, movement difficulties, sleep disturbances and autistic features.

Long-term studies have sought to understand how Dravet’s clinical manifestations change as patients move from childhood into adulthood, and recent analyzes have shown that patients continue to lag behind their neurotypical peers in developmental outcomes.

Between 2005 and 2010, a group of SCN1ADravet-positive patients participated in an observational study in the UK, and their caregivers completed questionnaires related to clinical characteristics, disease burden, quality of life, behavior and sleep between 2009 and 2010. Some caregivers completed follow-up questionnaires approximately 10 years later.

Dravet syndrome outcomes after 10 years

Here, researchers studied how patients’ clinical presentation changed during this period to identify predictors of worse developmental trajectories. Their analysis involved 68 patients, with a median age of 7 years at initial assessment or baseline and a median age of 17 years at follow-up 10 years later.

Caregivers reported that mean epilepsy severity in Dravet patients was generally less severe after 10 years than at baseline.

However, cognitive development deteriorates during this period due to adaptive skills across multiple domains. Specifically, the average degree of disability changed from “moderate” to “severe.” More than half (51%) of the patients were classified as having severe cognitive impairment.

Predictors of poorer developmental outcomes include poorer language skills and greater epilepsy severity at baseline, as well as poorer developmental outcomes SCN1A Genetic scoring, a way to predict how severe the consequences of a patient’s mutation might be.

The prevalence of multiple comorbidities also increased during follow-up, including autistic traits, which affected 30% at baseline and 77% at follow-up. Similar patterns were seen for behavioral problems (38% vs. 81%) and motor problems (41% vs. 80%).

Patients younger than 6 years old at baseline assessment generally had more severe outcomes than patients 6 years or older.

While epilepsy severity was significantly reduced in the older group, there was no significant change in younger patients. Younger cohorts also experience greater developmental decline and accumulate a higher comorbidity burden.

The findings reflect “rapid disease progression during the first five years of life, in contrast to the relative stability of function in older age groups,” the researchers wrote.

By age 10, other common problems include sleep abnormalities (71%), eating problems (55%), dental problems (49%) and fractures (40%).

Seven children who signed up at the outset died. Four deaths were attributed to Unexpected Death in Epilepsy (SUDEP). More than one-third (35%) of caregivers at follow-up said they had not discussed SUDEP with a health care professional.

About two-thirds of patients (66%) were completely dependent on caregivers for daily living, and 34% were partially dependent. Nearly all caregivers (99%) say their own health has been negatively impacted, and 91% say their career has been negatively impacted.

Overall, our study confirms poor long-term developmental outcomes in individuals with [Dravet], the researchers wrote. The negative impact of baseline epilepsy severity on long-term developmental outcomes demonstrates the importance of implementing early and targeted treatment strategies.

The researchers say more research should be done on the effects of newer anti-epileptic drugs that were not available to patients at the start of the analysis.