The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes in Rare Disease: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy.

Objectives: For individuals living with rare neurodevelopmental disorders, especially those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. Personalized endpoints such as Goal Attainment Scaling (GAS) allow the assessment of treatment response across variable baseline states and disease manifestations and thus provide a highly sensitive measure of efficacy. The current study tested the feasibility of using GAS in rare SCN2A-associated developmental and epileptic encephalopathy (SCN2A-DEE).

Factors Affecting Usability and Acceptability of an Online Platform Used by Caregivers in Child and Adolescent Mental Health Services: Mixed Methods Study.

Background: Young people and families endure protracted waits for specialist mental health support in the United Kingdom. Staff shortages and limited resources have led many organizations to develop digital platforms to improve access to support. myHealthE is a digital platform used by families referred to Child and Adolescent Mental Health Services in South London.

Are ADHD trajectories shaped by the social environment? A longitudinal study of maternal influences on the preschool origins of delay aversion.

Background: Attention-deficit/hyperactivity disorder (ADHD) is commonly attributed to neuro-cognitive deficits of genetic and/or prenatal/perinatal environmental origins. Sonuga-Barke proposed an alternative formulation, suggesting that ADHD behaviors are functional expressions of delay aversion-a strong motivational disposition to avoid or escape negative affective states evoked by delay. It is hypothesized that the strength of this disposition, though neuro-biologically rooted, is exacerbated by early negative social interactions during waiting-related encounters.

International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA.

Introduction: The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.

Methods: Clinical outcome assessments for the top 10 priority domains identified in the Voice of the Patient Report for Rett syndrome were compiled and available psychometric data were extracted.

Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency Disorder.

Background: Information on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.

Methods: Outcome variables were lifetime count of family-reported hospitalizations and average length of stay both for seizure- (management and/or investigative) and non-seizure-related causes.