Research & Publications

Validating the communication and symbolic behaviour scale developmental profile infant toddler check

Saldaris J, Leonard H, Wong K, Jacoby P, Spence M, Marsh ED, Benke TA, Demarest ST, Downs J. J Autism Dev Disord. 2023 May 15. doi: 10.1007/s10803-023-06002-w. Online ahead of print. PMID: 37184758

Epileptic Spasms in CDKL5 Deficiency Disorder: Delayed Treatment and Poor Response to First-line The

Olson HE, Demarest S, Pestana-Knight E, Moosa AN, Zhang X, Pérez-Pérez JR, Weisenberg J, O'Connor Prange E, Marsh ED, Rajaraman RR, Suter B, Katyayan A, Haviland I, Daniels C, Zhang B, Greene C, DeLeo M, Swanson L, Love-Nichols J, Benke T, Harini C, Poduri A. Epilepsia. 2023 Apr 28. doi: 10.1111/epi.17630. Online ahead of print. PMID: 37114835

Comparison of evoked potentials across four related developmental encephalopathies.

Saby JN, Peters SU, Benke TA, Standridge SM, Swanson LC, Lieberman DN, Olson HE, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED. J Neurodev Disord. 2023 Mar 4;15(1):10. doi: 10.1186/s11689-023-09479-9. PMID: 36870948; PMCID: PMC9985257.

Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for cl

Saldaris JM, Jacoby P, Leonard H, Benke TA, Demarest S, Marsh ED, Downs J. Epilepsy Behav. 2023 Feb;139:109069. doi: 10.1016/j.yebeh.2022.109069. Epub 2023 Jan 10. PMID: 36634535; PMCID: PMC9899310.

Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder.

Stansauk J, Fidell A, Benke T, Schaffer M, Demarest ST. Am J Med Genet A. 2023 Jan;191(1):108-111. doi: 10.1002/ajmg.a.62995. Epub 2022 Nov 13. PMID: 36372969; PMCID: PMC9886132.

Quality of life beyond diagnosis in intellectual disability - Latent profiling.

Leonard H, Whitehouse A, Jacoby P, Benke T, Demarest S, Saldaris J, Wong K, Reddihough D, Williams K, Downs J. Res Dev Disabil. 2022 Oct;129:104322. doi: 10.1016/j.ridd.2022.104322. Epub 2022 Aug 5. PMID: 35939908; PMCID: PMC9792277.

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder.

Wong K, Junaid M, Demarest S, Saldaris J, Benke TA, Marsh ED, Downs J, Leonard H. Eur J Hum Genet. 2023 Feb;31(2):169-178. doi: 10.1038/s41431-022-01163-1. Epub 2022 Aug 18.PMID: 35978140

Electrophysiological biomarkers of brain function in CDKL5 deficiency disorder.

Saby JN, Mulcahey PJ, Zavez AE, Peters SU, Standridge SM, Swanson LC, Lieberman DN, Olson HE, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Benke TA, Marsh ED. Brain Commun. 2022;4(4):fcac197. PubMed PMID: 35974796

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5

Amin S, Monaghan M, Aledo-Serrano A, Bahi-Buisson N, Chin RF, Clarke AJ, Cross JH, Demarest S, Devinsky O, Downs J, Pestana Knight EM, Olson H, Partridge CA, Stuart G, Trivisano M, Zuberi S, Benke TA. Front Neurol. 2022;13:874695. PubMed PMID: 35795799

The Lived Experience of Parents' Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Chil

Demarest S, Marsh R, Treat L, Fisher MP, Dempsey A, Junaid M, Downs J, Leonard H, Benke T, Morris MA. J Child Neurol. 2022 May;37(6):451-460. doi: 10.1177/08830738221076285. Epub 2022 Feb 23. PMID: 35196159; PMCID: PMC10231496.

Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome.

Leonard H, Gold W, Samaco R, Sahin M, Benke T, Downs J. Orphanet J Rare Dis. 2022 Mar 4;17(1):108. doi: 10.1186/s13023-022-02240-w. PMID: 35246185; PMCID: PMC8894842.

Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin

Downs J, Jacoby P, Saldaris J, Leonard H, Benke T, Marsh E, Demarest S. J Sleep Res. 2022 Oct;31(5):e13600. doi: 10.1111/jsr.13600. Epub 2022 Apr 12. PMID: 35415902; PMCID: PMC9489598.

Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand).

Saldaris J, Leonard H, Jacoby P, Marsh ED, Benke TA, Demarest S, Downs J. J Child Neurol. 2022 May;37(6):541-547. doi: 10.1177/08830738221091044. Epub 2022 Apr 14. PMID: 35422141; PMCID: PMC9149062.

CDKL5 deficiency disorder: clinical features, diagnosis, and management.

Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S. Lancet Neurol. 2022 Jun;21(6):563-576. doi: 10.1016/S1474-4422(22)00035-7. Epub 2022 Apr 25. PMID: 35483386; PMCID: PMC9788833.

Devising a Missing Data Rule for a Quality of Life Questionnaire-A Simulation Study.

Jacoby P, Whitehouse A, Leonard H, Saldaris J, Demarest S, Benke T, Downs J. J Dev Behav Pediatr. 2022 Aug 1;43(6):e414-e418. doi: 10.1097/DBP.0000000000001061. Epub 2022 Jan 24. PMID: 35075044; PMCID: PMC9308825.

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.

Olson HE, Daniels CI, Haviland I, Swanson LC, Greene CA, Denny AMM, Demarest ST, Pestana-Knight E, Zhang X, Moosa AN, Fidell A, Weisenberg JL, Suter B, Fu C, Neul JL, Percy AK, Marsh ED, Benke TA, Poduri A.J Neurodev Disord. 2021 Sep 16;13(1):40. doi: 10.1186/s11689-021-09384-z.PMID: 34530725

Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement.

Brock D, Fidell A, Thomas J, Juarez-Colunga E, Benke TA, Demarest S.J Child Neurol. 2021 Oct;36(11):974-980. doi: 10.1177/08830738211019284.PMID: 34547934

Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder.

Saldaris J, Weisenberg J, Pestana-Knight E, Marsh ED, Suter B, Rajaraman R, Heidary G, Olson HE, Devinsky O, Price D, Jacoby P, Leonard H, Benke TA, Demarest S, Downs J.J Child Neurol. 2021 Oct;36(11):998-1006. doi: 10.1177/08830738211019576. Epub 2021 Aug 11.PMID: 34378447

Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.

Olson HE, Costantini JG, Swanson LC, Kaufmann WE, Benke TA, Fulton AB, Hansen R, Poduri A, Heidary G.Dev Med Child Neurol. 2021 Nov;63(11):1308-1315. doi: 10.1111/dmcn.14908. Epub 2021 May 24.PMID: 34028805

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international d

MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H.Clin Genet. 2021 Jan;99(1):157-165. doi: 10.1111/cge.13862. Epub 2020 Oct 20.PMID: 33047306

Severity Assessment in CDKL5 Deficiency Disorder.

Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA.Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27.PMID: 31147226

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and

Demarest ST, Olson HE, Moss A, Pestana-Knight E, Zhang X, Parikh S, Swanson LC, Riley KD, Bazin GA, Angione K, Niestroj LM, Lal D, Juarez-Colunga E, Benke TA.Epilepsia. 2019 Aug;60(8):1733-1742. doi: 10.1111/epi.16285. Epub 2019 Jul 16.PMID: 31313283

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA.Pediatr Neurol. 2019 Aug;97:18-25. doi: 10.1016/j.pediatrneurol.2019.02.015. Epub 2019 Feb 23.PMID: 30928302

CDKL5 variants: Improving our understanding of a rare neurologic disorder.

Hector RD, Kalscheuer VM, Hennig F, Leonard H, Downs J, Clarke A, Benke TA, Armstrong J, Pineda M, Bailey MES, Cobb SR.Neurol Genet. 2017 Dec 15;3(6):e200. doi: 10.1212/NXG.0000000000000200. eCollection 2017 Dec.PMID: 29264392