The impact of developmental and epileptic encephalopathies on families: a qualitative study
JF Velarde-García, J Güeita-Rodríguez… - European Journal of …, 2024 - Springer
Developmental and epileptic encephalopathies (DEEs) cause disability and dependence
affecting both children and the family. The aim of the study was to describe the perspective …
affecting both children and the family. The aim of the study was to describe the perspective …
[HTML][HTML] Patient listening on social media for patient-focused drug development: a synthesis of considerations from patients, industry and regulators
P Cimiano, B Collins, MC De Vuono, T Escudier… - Frontiers in …, 2024 - frontiersin.org
Patients, life science industry and regulatory authorities are united in their goal to reduce the
disease burden of patients by closing remaining unmet needs. Patients have, however, not …
disease burden of patients by closing remaining unmet needs. Patients have, however, not …
Beyond the Diagnosis: Evaluation of Quality-of-Life Measures and Family Functioning in SLC6A1-Related Neurodevelopmental Disorder
H Dahshi, S Kalvakuntla, MJ Lee, K Goodspeed - Pediatric Neurology, 2024 - Elsevier
Background SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is a rare genetic
disorder linked to autism spectrum disorder, epilepsy, and developmental delay. In …
disorder linked to autism spectrum disorder, epilepsy, and developmental delay. In …
Caregiver Perspectives on the Daily Function of People Living With HNRNPH2-Related Neurodevelopmental Disorder: Developing a Conceptual Model
R Salazar - 2023 - search.proquest.com
Introduction: Neurodevelopmental disorders are a group of conditions that start in childhood
and lead to impairments in functioning. HNRNPH2-related neurodevelopmental disorder is …
and lead to impairments in functioning. HNRNPH2-related neurodevelopmental disorder is …
Assessing the impact of the de novo SLC6A1 mutation in schizophrenia through a comprehensive case study
NV Kondratyev, MV Alfimova, VG Kaleda… - Psychiatry …, 2023 - pubmed.ncbi.nlm.nih.gov
Assessing the impact of the de novo SLC6A1 mutation in schizophrenia through a comprehensive
case study Assessing the impact of the de novo SLC6A1 mutation in schizophrenia through a …
case study Assessing the impact of the de novo SLC6A1 mutation in schizophrenia through a …
[PDF][PDF] Identifying Mental Health Challenges Experienced by Caregivers in Rare Disease Communities: A Social Media Analysis
C DeFelice, M Picone, TV D'Amato, M Converse… - Group - trend.community
To understand the unique challenges associated with caregivers for individuals living with
rare diseases, it is imperative to actively listen to and interpret their experiences. It has been …
rare diseases, it is imperative to actively listen to and interpret their experiences. It has been …