Downs J - Search Results

1

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.

Sevinc G, Knox K, George M, Evans L, Kaiser A, Paltell KC, Myers LS, Ludwig NN, Wojnaroski M, Conecker G, Hecker J, Downs J, Chapman CA, Berg AT. Sevinc G, et al. Among authors: downs j. Value Health. 2024 Dec 27:S1098-3015(24)06795-0. doi: 10.1016/j.jval.2024.12.004. Online ahead of print. Value Health. 2024. PMID: 39733836

2

What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy.

Downs J, Ludwig NN, Wojnaroski M, Keeley J, Schust Myers L, Chapman CAT, Hecker J, Conecker G, Berg AT. Downs J, et al. Qual Life Res. 2024 Feb;33(2):519-528. doi: 10.1007/s11136-023-03543-6. Epub 2023 Dec 8. Qual Life Res. 2024. PMID: 38064015 Free PMC article.

3

FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies.

Berg AT, Ludwig NN, Wojnaroski M, Chapman CAT, Hommer R, Conecker G, Hecker JZ, Downs J. Berg AT, et al. Among authors: downs j. Neurology. 2024 Jan 9;102(1):e207958. doi: 10.1212/WNL.0000000000207958. Epub 2023 Dec 15. Neurology. 2024. PMID: 38165374 Free PMC article. Review.

4

Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials.

Hecker J, Conecker G, Chapman C, Hommer R, Ludwig NN, Sevinc G, Te S, Wojnaroski M, Downs J, Berg AT. Hecker J, et al. Among authors: downs j. Ther Adv Rare Dis. 2024 Jun 22;18:26330040241249762. doi: 10.1177/26330040241249762. eCollection 2024 Jan-Dec. Ther Adv Rare Dis. 2024. PMID: 38911512 Free PMC article. Review.

5

Novel approaches to measuring cognition in individuals with severe to profound functional impairment: A pilot study in SCN2A-related disorder.

Ludwig NN, Wojnaroski M, Suskauer SJ, Slomine BS, Kaiser A, Paltell K, Evans L, Tucker K, Chapman CAT, Conecker G, Hecker J, Myers LS, Downs J, Berg AT. Ludwig NN, et al. Among authors: downs j. Epilepsy Behav. 2024 Nov;160:109975. doi: 10.1016/j.yebeh.2024.109975. Epub 2024 Sep 20. Epilepsy Behav. 2024. PMID: 39305725

6

Psychometric Properties of the EQ-5D-Y-5L for Children With Intellectual Disability.

Downs J, Norman R, Mulhern B, Jacoby P, Reddihough D, Choong CS, Finlay-Jones A, Blackmore AM. Downs J, et al. Value Health. 2024 Jun;27(6):776-783. doi: 10.1016/j.jval.2024.02.016. Epub 2024 Mar 11. Value Health. 2024. PMID: 38467188

7

How Well Does the EQ-5D-Y-5L Describe Children With Intellectual Disability?: "There's a Lot More to My Child Than That She Can't Wash or Dress Herself.".

Blackmore AM, Mulhern B, Norman R, Reddihough D, Choong CS, Jacoby P, Downs J. Blackmore AM, et al. Among authors: downs j. Value Health. 2024 Feb;27(2):190-198. doi: 10.1016/j.jval.2023.11.005. Epub 2023 Dec 2. Value Health. 2024. PMID: 38043713

8

Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder.

Leonard H, Junaid M, Wong K, Demarest S, Downs J. Leonard H, et al. Among authors: downs j. Epilepsy Res. 2021 Jan;169:106521. doi: 10.1016/j.eplepsyres.2020.106521. Epub 2020 Dec 1. Epilepsy Res. 2021. PMID: 33341033

9

Comparing home polysomnography with transcutaneous CO₂ monitoring to laboratory polysomnography in children with neuromuscular disorders.

Withers A, Pettigrew G, Filmer K, Lam J, Downs J, Wilson A. Withers A, et al. Among authors: downs j. J Clin Sleep Med. 2024 Dec 12. doi: 10.5664/jcsm.11490. Online ahead of print. J Clin Sleep Med. 2024. PMID: 39663926

10

How Families Manage the Complex Medical Needs of Their Children with MECP2 Duplication Syndrome.

John Cherian D, Ta D, Smith J, Downs J, Leonard H. John Cherian D, et al. Among authors: downs j. Children (Basel). 2023 Jul 11;10(7):1202. doi: 10.3390/children10071202. Children (Basel). 2023. PMID: 37508699 Free PMC article.

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