Rest-Activity Rhythm Phenotypes in Adults with Epilepsy and Intellectual Disability DOI Creative Commons

Nandani Adhyapak,

Grace E Cardenas,

Mark A Abboud

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 10, 2024

Sleep and rest-activity rhythms (RARs) are perturbed in many forms of neuropsychiatric illness. In this study, we applied wrist actigraphy to describe the extent RAR perturbations adults with epilepsy intellectual disability ("E+ID"), using a cross-sectional case-control design. We examined whether phenotypes correlated severity, deficits adaptive function and/or comorbid psychopathology.

Language: Английский

Cognitive and behavioral impact of antiseizure medications, neuromodulation, ketogenic diet, and surgery in lennox-gastaut syndrome: A comprehensive review DOI
Debopam Samanta

Epilepsy & Behavior, Journal Year: 2025, Volume and Issue: 164, P. 110272 - 110272

Published: Jan. 23, 2025

Language: Английский

Citations

2
Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials DOI Creative Commons
JayEtta Hecker, Gabrielle Conecker, Chere A. T. Chapman

et al.

Therapeutic Advances in Rare Disease, Journal Year: 2024, Volume and Issue: 5

Published: Jan. 1, 2024

Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental epileptic encephalopathy (DEE)-affected individuals who also fall severe profound of intellectual disability. This effectively excludes those with impairments from trials, impeding ability sponsors evaluate disease-modifying therapies (DMTs). The Inchstone Project, an international, patient advocate-led collaboration, brings together leading researchers, clinicians, pharmaceutical companies, advocates develop adapted, validated assessment battery within 5 years. goal is support trials DMTs for DEEs by providing sufficiently sensitive measurement demonstrate therapeutic efficacy. An initial pilot study administered 7 established assessments 10 affected SCN2A-DEE, identifying specific limitations existing measures areas improvement. It was clear most do not account challenges throughout DEE population, including vision impairments, significant motor disability, which need be accounted creating a 'fit-for-purpose' population. Several novel assessments, two responsivity developed use monitoring recovery after acquired brain injury as well individualized Goal Attainment Scaling, showed promise this group. team completed DEE-wide survey over 270 caregivers documenting their children's abilities priorities improvement new treatments. using information how might updated better what important families child's small but improvements time. These efforts are building coherent picture across multiple domains, or concepts interest, have greatest impact on patients families. course adapt outcome (1) increments meaningful change ('Inchstones') (2) applicable conditions.

Language: Английский

Citations

5
Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome DOI Creative Commons
Hannah M. Rea, Sara Jane Webb, Evangeline C. Kurtz‐Nelson

et al.

Frontiers in Neuroscience, Journal Year: 2025, Volume and Issue: 18

Published: Jan. 7, 2025

DYRK1A, a protein kinase located on human chromosome 21, plays role in postembryonic neuronal development and degeneration. Alterations to DYRK1A have been consistently associated with cognitive functioning neurodevelopmental disorders (e.g., autism, intellectual disability). However, the broader behavioral phenotype of syndrome requires further characterization. Specifically, executive functioning, or processes that are necessary for goal-directed behavior, has not yet characterized this population. Individuals variants (n = 29; ages 4 21 years) were assessed standardized protocol multiple measures functioning: Delis-Kaplan Executive Function Schedule, chronologically age-appropriate caregiver-report forms Behavior Rating Inventory (BRIEF) Achenbach System Empirically Based Assessment (ASEBA). We first examined feasibility appropriateness established among participants inform selection tools future research. then group, including associations other phenotypic features. Neurocognitive assessments deemed infeasible due verbal functioning. Caregiver-report revealed elevated concerns related self-monitoring, working memory, planning/organization BRIEF, attention ADHD CBCL. Only two had existing diagnoses; however, 5 (out 10 data) exceeded cutoff 13 individuals 27 ASEBA subscale, 18 subscale. There was concordance between diagnosis ASEBA, but BRIEF. correlated nonverbal IQ autism traits. Objective needed disability who and/or motor limitations. Diagnostic overshadowing, tendency attribute all problems leave co-existing conditions, such as challenges ADHD, undiagnosed, is common. Phenotypic characterization therefore important our understanding ensuring caregivers' addressed, receive clinical services best meet their needs.

Language: Английский

Citations

0
Vineland-3 Growth Scale Values: Psychometric Properties for Clinical Trial Readiness in SCN2A DOI
Aaron J. Kaat, Lindsey Evans, Amanda N. Nili

et al.

Journal of Child and Adolescent Psychopharmacology, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 31, 2025

Purpose: The Vineland Adaptive Behavior Scales-3rd Edition (Vineland-3) is one of the most used measures adaptive behavior among those with sodium channel protein type 2 subunit alpha related disorders (SCN2A-RDs). Several disease-modifying treatments are in early trials for SCN2A-RDs, and as such, clinical outcome assessments (COAs) necessary. Vineland-3 introduced growth scale values (GSVs), which useful measuring within-person change thus may be future trials. purpose this study was to evaluate psychometric properties GSVs SCN2A-RDs preparation Methods: A sample 65 individuals (mean = 108, SD 76.0 months) recruited a trial readiness study. Comprehensive Interview administered by trained raters at regular intervals. Multiple were evaluated, including floor ceiling effects, split-half internal consistency, test-retest reliability, inter-rater reliability (on approximately 20% all completions). Results: Floor effects relatively infrequent on GSV metric but occurred subdomains using norm-referenced v-scale metric. Split-half excellent (rxx >0.95 inter-class correlation coefficient [ICC] >0.90, respectively), except coping, still maintained adequate 0.87, ICC 0.65). Inter-rater also very strong, though it more variable (αkripp range 0.78-1.00). Conclusion: holds great potential COA SCN2A-RDs; exhibited strong sample. This prerequisite level evidence needed demonstrate that measure fit-for-purpose While some high, domains (e.g., domestic) problems suggest they less relevant population. Future studies should expand mixed-methods research prioritizing concepts interest Vineland-3.

Language: Английский

Citations

0
Caregiver‐reported meaningful change in functional domains for individuals with developmental and epileptic encephalopathy: A convergent mixed‐methods design DOI Creative Commons
Jenny Downs, Sophie Haywood, Natasha N. Ludwig

et al.

Developmental Medicine & Child Neurology, Journal Year: 2025, Volume and Issue: unknown

Published: May 15, 2025

Abstract Aim To investigate how caregivers of children with developmental and epileptic encephalopathy severe impairments describe meaningful change for functional domains why it is important. Method This was a convergent mixed‐methods design study. A survey completed by 267 parents aged 12 months or older. For prioritized (communication, gross motor, fine eating), reported the smallest improvement that would be important explained why. Data were analyzed using directed content analysis codes mapped to impairment levels. Results The median age 8 years (interquartile range 4 2 months–14 6 months) 149 (55.8%) female. Content yielded 86 codes. Common described capacity communicate preferences emotions, gain sitting walking skills, grasp objects play, eat foods without choking, utensils. Some each level (e.g. communicating needs/wants/likes expressive communication); others specific an gaining head control if unable walk). Meaningful anticipated affect health, independence safety, care regimens, quality life affected individual families. Interpretation indicate critical components within evaluations in clinical trials.

Language: Английский

Citations

0
Family and Caregiver Perspectives on Gene Therapy for Rett Syndrome DOI Creative Commons

Keri Ramsey,

Madison LaFleur,

Kiana Robinson

et al.

Rare, Journal Year: 2024, Volume and Issue: 2, P. 100045 - 100045

Published: Jan. 1, 2024

Language: Английский

Citations

1
Assessing Communication Impairments in a Rare Neurodevelopmental Disorder DOI
Anne T. Berg, Amanda N. Nili, Lindsey Evans

et al.

Neurology Clinical Practice, Journal Year: 2024, Volume and Issue: 15(1)

Published: Oct. 18, 2024

-related disorders (

Language: Английский

Citations

1
International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA DOI Creative Commons
Jenny Downs, Dominique C. Pichard, Walter E. Kaufmann

et al.

Trials, Journal Year: 2024, Volume and Issue: 25(1)

Published: Dec. 21, 2024

Language: Английский

Citations

1
Rest-Activity Rhythm Phenotypes in Adults with Epilepsy and Intellectual Disability DOI Creative Commons

Nandani Adhyapak,

Grace E Cardenas,

Mark A Abboud

et al.

medRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 10, 2024

Sleep and rest-activity rhythms (RARs) are perturbed in many forms of neuropsychiatric illness. In this study, we applied wrist actigraphy to describe the extent RAR perturbations adults with epilepsy intellectual disability ("E+ID"), using a cross-sectional case-control design. We examined whether phenotypes correlated severity, deficits adaptive function and/or comorbid psychopathology.

Language: Английский

Citations

0