Relutrigine

“Sixty-seven relevant studies were identified” (opens the source at this quote in a new tab)CopyFlag

“Quality-of-life (KIDSCREEN, HADS, BSFC, EQ-5D)” (opens the source at this quote in a new tab)CopyFlag

“Raw scores increased so slowly over time that standardized scores declined.” (opens the source at this quote in a new tab)CopyFlag

“Mean standardized VABS scores (Composite 53.5; Motor, 55.8, Communication, 54.1, Socialization, 59.4, and Daily living skills, 55.1) reflected performance ~3 standard deviations below the normative test average.” (opens the source at this quote in a new tab)CopyFlag

“In longitudinal regression analyses, standardized scores decreased between 1.3 and 2.8 points per year, suggesting regression of abilities.” (opens the source at this quote in a new tab)CopyFlag

“Participants with epilepsy scored 0.6 to 1 SD lower than those without epilepsy (all P’s < .05).” (opens the source at this quote in a new tab)CopyFlag

“The VABS, as standardly administered, has shortcomings for addressing growth or regression in individuals with SCN2A-DEEs.” (opens the source at this quote in a new tab)CopyFlag

“Alternative measures sensitive to incremental meaningful change are required if outcomes such as adaptive behavior are to be primary outcomes in short-term clinical trials.” (opens the source at this quote in a new tab)CopyFlag

“No motor score changed significantly over time in the longitudinal analyses.” (opens the source at this quote in a new tab)CopyFlag

“Floor effects were relatively infrequent on the GSV metric” (opens the source at this quote in a new tab)CopyFlag

“All 10 caregivers completed the goal-setting interviews” (opens the source at this quote in a new tab)CopyFlag

“Meaningful change thresholds have not been evaluated in the DEE literature.” (opens the source at this quote in a new tab)CopyFlag

“Nineteen patients with SCN8A pathogenic variants were included.” (opens the source at this quote in a new tab)CopyFlag

“Four participants were classified as SeLFIE (21.1%), 8 as mild-to-moderate DEE (42.1%), 6 as DEE (31.6%), and 1 as NDDwGE (5.2%).” (opens the source at this quote in a new tab)CopyFlag

“The SeLFIE group had the highest mean QI-Disability total score (94.2 ± 2.1), followed by mild-to-moderate DEE (80.5 ± 11.6), and then DEE (50.5 ± 14.2); F(2, 15) = 20.13, P < .001” (opens the source at this quote in a new tab)CopyFlag

“Similarly, the SeLFIE group had the highest mean VABS-3 ABC score (103.5 ± 8.6), followed by mild-to-moderate DEE (71.6 ± 4.5), and then DEE (25.5 ± 3.5); F(2, 15) = 49.12, P < .001” (opens the source at this quote in a new tab)CopyFlag

“Greater seizure frequency and number of antiseizure medications were both associated with lower VABS and QI-Disability total scores” (opens the source at this quote in a new tab)CopyFlag

“QoL scores were strongly associated with the number of days minimally disrupted by seizures, medication side effects, genetic diagnosis, and community type.” (opens the source at this quote in a new tab)CopyFlag

“Mean total QI-Disability score was 60.2 ± 14.1 out of a total possible score of 100.” (opens the source at this quote in a new tab)CopyFlag

“Parents identified expressive communication as a top (N = 211, 79 %) priority for improvement.” (opens the source at this quote in a new tab)CopyFlag

“Across all participants, the most convenient medication formulation was liquid” (opens the source at this quote in a new tab)CopyFlag

“23 (66%) respondents, regardless of feeding pattern” (opens the source at this quote in a new tab)CopyFlag

“caregivers placed higher importance on cognitive impairment, communication difficulties, and behavioral problems” (opens the source at this quote in a new tab)CopyFlag

“caregivers tended to prioritize immediate, practical interventions to improve daily life” (opens the source at this quote in a new tab)CopyFlag