Doctor checklist aims to facilitate earlier LGS diagnosis
Experts develop 7-question form based on international diagnostic criteria
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Specialists in Europe developed a checklist designed to help doctors diagnose LGS. (Image by iStock)
A checklist based on international diagnostic criteria, developed by specialists in Europe, may help doctors identify Lennox-Gastaut syndrome (LGS) earlier and support further evaluation when a diagnosis is unclear, a study showed.
Because some characteristic features of LGS may emerge only as the disease progresses, the checklist could also help doctors recognize patients who need continued monitoring and reassessment.
Researchers said the checklist is intended to support, rather than replace, a full clinical evaluation. It can help physicians “in organizing clinical information and guiding diagnostic decision-making” and support the “longitudinal monitoring of patients showing some of the characteristic features of LGS, but in whom the syndrome is still evolving,” they said.
The study, “Facilitating the timely diagnosis of Lennox–Gastaut syndrome: A checklist to support clinical practice,” was published in Epileptic disorders.
LGS is a rare, severe form of epilepsy marked by developmental delays and seizures, or sudden abnormal bursts of electrical activity in the brain that may affect the whole body. LGS can be difficult to diagnose because its symptoms and progression vary from person to person.
7 questions
An LGS diagnosis is based on three key features defined by the International League Against Epilepsy (ILAE): multiple types of seizures that are difficult to control with medication, particularly tonic seizures marked by muscle stiffness; abnormal electrical activity in the brain; and mild to severe cognitive and behavioral impairments that may develop after seizures begin.
LGS can be difficult to diagnose because its symptoms and progression vary from person to person.
A panel of 10 specialists from seven European countries developed and evaluated a structured checklist to help doctors identify LGS based on the ILAE criteria.
The checklist consisted of seven questions covering key features of LGS: age at seizure onset, cognitive and behavioral impairments, tonic and other seizure types, response to antiseizure medications, and abnormal brain activity. Each answer was assigned a color: green when it clearly met an LGS criterion, red when it did not, and amber when there was not enough information to determine the answer.
The number of green, red, and amber answers was then used to classify the diagnosis as likely, possible, unlikely, or unclear because of insufficient information.
The researchers used the checklist to evaluate 120 patients, 64 with LGS and 56 without. Among all 120 cases, 66.7% received a checklist result that had a perfect level of agreement with the original diagnosis (matching both LGS and non-LGS diagnoses), while another 28.3% were classified as having a possible LGS diagnosis that matched an original LGS diagnosis.
The researchers described several cases that highlighted the challenges of diagnosing LGS.
In three cases where the checklist did not align with the original LGS diagnosis, the checklist showed LGS as unlikely because some brain activity abnormalities were not documented, yet the patients had other features consistent with LGS. One also had no cognitive impairment, although the researchers noted that the patient’s young age may have made such problems difficult to detect.
The researchers said these cases indicate a potential limitation of the checklist: a lack of documented evidence for one key diagnostic feature may lead to an unlikely classification even when other clinical features suggest LGS.
In a 3-year-old child, seizures and developmental features overlapped with other epilepsy syndromes. He had several typical LGS features, including early-onset seizures, abnormal brain activity, and delayed development. However, a characteristic brain activity pattern during sleep associated with LGS had not been documented, so the checklist classified LGS as possible. The child ultimately did not develop the full range of LGS features.
The researchers said the case highlights that “re-evaluation of the patient is critical” in young children, as key features of LGS may not be present when seizures begin but can emerge over time.
Two cases revealed a perfect match between the initial diagnosis and a checklist outcome of likely LGS: A 22-year-old man who met the criteria of seizures beginning before age 8, several types of seizures, characteristic patterns of brain activity, and cognitive and mood issues, and an 11-year-old boy with a mutation in the SCN2A gene, a known genetic risk factor for LGS.
The researchers said future studies should validate the checklist in real-world settings and among non-specialist clinicians. Ultimately, they said, the tool could “facilitate earlier referral to a specialist and accelerate the diagnostic pathway” for people suspected of having LGS.