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Connection

Scott Demarest to Child

This is a "connection" page, showing publications Scott Demarest has written about Child.

 
Connection Strength
 
 
 
0.997
 
  1. Abbott M, Angione K, Stringfellow M, Malik K, Saenz M, Miele A, Syverson K, Maniar B, Borello J, Chaby L, Demarest S. Evaluation of epilepsy in 8p-related disorders. Epilepsy Res. 2026 Feb; 220:107720.
    View in: PubMed
    Score: 0.057
  2. Downs J, Keeley J, Jacoby P, Benson-Goldberg S, Pillar S, Miele A, Leonard H, Saldaris J, Marsh ED, Benke TA, Demarest ST. Development and initial validation of the Communication Inventory Disability - Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder. J Patient Rep Outcomes. 2025 Dec 09; 10(1):6.
    View in: PubMed
    Score: 0.057
  3. Abbott M, Angione K, Stringfellow M, Malik K, Saenz M, McCourt E, Silveira L, Miele A, Benke TA, Demarest S. Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes. J Child Neurol. 2026 Apr; 41(4):470-477.
    View in: PubMed
    Score: 0.056
  4. Saldaris JM, Jacoby P, Downs J, Marsh ED, Leonard H, Pestana-Knight E, Rajaraman R, Weisenberg J, Suter B, Olson HE, Price D, Hong W, Prange E, Benke TA, Demarest S. Psychometric evaluation of clinician- and caregiver-reported clinical severity assessments for individuals with CDKL5 deficiency disorder. Epilepsia. 2024 Oct; 65(10):3064-3075.
    View in: PubMed
    Score: 0.052
  5. Ziniel SI, Mackie A, Saldaris J, Leonard H, Jacoby P, Marsh ED, Suter B, Pestana-Knight E, Olson HE, Price D, Weisenberg J, Rajaraman R, VanderVeen G, Benke TA, Downs J, Demarest S. The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder. Epilepsy Res. 2023 11; 197:107231.
    View in: PubMed
    Score: 0.049
  6. Brock DC, Abbott M, Reed L, Kammeyer R, Gibbons M, Angione K, Bernard TJ, Gaskell A, Demarest S. Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications. Epilepsy Res. 2023 07; 193:107167.
    View in: PubMed
    Score: 0.048
  7. Demarest S, Jeste S, Agarwal N, Arkilo D, Asgharnejad M, Hsiao S, Thibert R. Efficacy, safety, and tolerability of soticlestat as adjunctive therapy for the treatment of seizures in patients with Dup15q syndrome or CDKL5 deficiency disorder in an open-label signal-finding phase II study (ARCADE). Epilepsy Behav. 2023 05; 142:109173.
    View in: PubMed
    Score: 0.047
  8. Stansauk J, Fidell A, Benke T, Schaffer M, Demarest ST. Analysis of electrocardiograms in individuals with CDKL5 deficiency disorder. Am J Med Genet A. 2023 Jan; 191(1):108-111.
    View in: PubMed
    Score: 0.046
  9. Downs J, Jacoby P, Saldaris J, Leonard H, Benke T, Marsh E, Demarest S. Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder. J Sleep Res. 2022 10; 31(5):e13600.
    View in: PubMed
    Score: 0.044
  10. Demarest S, Marsh R, Treat L, Fisher MP, Dempsey A, Junaid M, Downs J, Leonard H, Benke T, Morris MA. The Lived Experience of Parents' Receiving the Diagnosis of CDKL5 Deficiency Disorder for Their Child. J Child Neurol. 2022 05; 37(6):451-460.
    View in: PubMed
    Score: 0.044
  11. Brock D, Fidell A, Thomas J, Juarez-Colunga E, Benke TA, Demarest S. Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement. J Child Neurol. 2021 10; 36(11):974-980.
    View in: PubMed
    Score: 0.043
  12. 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. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development. Epilepsia. 2019 08; 60(8):1733-1742.
    View in: PubMed
    Score: 0.037
  13. 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. Severity Assessment in CDKL5 Deficiency Disorder. Pediatr Neurol. 2019 08; 97:38-42.
    View in: PubMed
    Score: 0.036
  14. Eschbach K, Moss A, Joshi C, Angione K, Smith G, Dempsey A, Juarez-Colunga E, Demarest ST. Diagnosis switching and outcomes in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. Epilepsy Res. 2018 11; 147:95-101.
    View in: PubMed
    Score: 0.035
  15. Demarest ST, Whitehead MT, Turnacioglu S, Pearl PL, Gropman AL. Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. J Child Neurol. 2014 Sep; 29(9):1249-56.
    View in: PubMed
    Score: 0.026
  16. SanInocencio C, Demarest S, Weitzman S, Thomas H, Chandran I, DeWoody Y. Development of a patient-centered conceptual disease model in Ring 14 syndrome: a patient-centered model of lived experience. Qual Life Res. 2026 Jan 14; 35(2):47.
    View in: PubMed
    Score: 0.014
  17. Murthy H, Hoang N, Stark JC, Cui S, Pannia E, Tsoi CT, Harris S, Ceolin C, Verhaeghe L, Scholten S, Baribeau D, Summers J, Costain G, Selvanayagam T, Howe JL, Lewis MES, Brunet T, Rieger S, Rosenfeld JA, Craigen WJ, Burrage LC, Christie MR, Baldwin D, Wentzensen IM, Keren B, Cogne B, Isidor B, Afenjar A, Elshafie RM, Bastaki L, Alkanderi S, Myers KA, Demarest S, Angione K, Abbott M, Campeau PM, Dowling JJ, Mendoza-Londono R, Scherer SW, Deshwar AR, Vorstman J. Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia. Brain. 2026 Jan 08; 149(1):252-261.
    View in: PubMed
    Score: 0.014
  18. Nguyen-Martinez AL, Jolliffe M, Scimeca LM, Park KL, Demarest S, Knupp KG, Angione K, Miele AS. Single-gene childhood developmental epileptic encephalopathies: a primer for pediatric neuropsychologists. Child Neuropsychol. 2026 May; 32(4):551-579.
    View in: PubMed
    Score: 0.014
  19. Jacoby P, Marsh ED, Demarest S, Saldaris JM, Leonard H, Olson HE, Saby JN, Pestana-Knight E, Rajaraman R, Price D, Weisenberg J, Suter B, Downs J, Benke TA. Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder. Brain Behav. 2025 Nov; 15(11):e71061.
    View in: PubMed
    Score: 0.014
  20. Keeley J, Skoda Z, Utley K, Marsh ED, Conecker GA, Hecker J, Ludwig NN, Leonard H, Saldaris J, Jacoby P, Pincus S, Benke TA, Demarest ST, Downs J. Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study. Qual Life Res. 2025 Dec; 34(12):3609-3620.
    View in: PubMed
    Score: 0.014
  21. Keeley J, Saldaris J, Benson-Goldberg S, Lariviere J, Leonard H, Marsh ED, Demarest ST, Benke TA, Jacoby P, Downs J. Content Validation of the Communication Inventory Disability-Observer Reported (CID-OR). J Child Neurol. 2026 Apr; 41(4):520-528.
    View in: PubMed
    Score: 0.014
  22. Saldaris JM, Demarest S, Jacoby P, Olson HE, Maski K, Pestana-Knight E, Price D, Rajaraman R, Suter B, Weisenberg J, Leonard H, Marsh ED, Benke TA, Downs J. Modification of a parent-report sleep scale for individuals with CDKL5 deficiency disorder: a psychometric study. J Clin Sleep Med. 2024 12 01; 20(12):1887-1893.
    View in: PubMed
    Score: 0.013
  23. Santucci K, Malik KE, Angione K, Bennink D, Gerk A, Mancini D, Stringfellow M, Dinkel T, Demarest S, Miele AS, Saenz M. Chromosome 8p Syndromes Clinical Presentation and Management Guidelines. Clin Genet. 2025 02; 107(2):169-178.
    View in: PubMed
    Score: 0.013
  24. Haviland I, Hector RD, Swanson LC, Verran AS, Sherrill E, Frazier Z, Denny AM, Lucash J, Zhang B, Dubbs HA, Marsh ED, Weisenberg JL, Leonard H, Crippa M, Cogliati F, Russo S, Suter B, Rajaraman R, Percy AK, Schreiber JM, Demarest S, Benke TA, Chopra M, Yu TW, Olson HE. Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet A. 2025 01; 197(1):e63843.
    View in: PubMed
    Score: 0.013
  25. Saldaris JM, Ayalde J, Kankanange S, Keeley J, Leonard H, Jacoby P, Marsh ED, Benke TA, Demarest ST, Downs J. Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review. Int J Lang Commun Disord. 2024 Nov-Dec; 59(6):2528-2553.
    View in: PubMed
    Score: 0.013
  26. Downs J, Jacoby P, Specchio N, Cross H, Amin S, Bahi-Buisson N, Rajaraman R, Suter B, Devinsky O, Aimetti A, Busse G, Olson HE, Demarest S, Benke TA, Pestana-Knight E. Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial. Eur J Paediatr Neurol. 2024 Jul; 51:140-146.
    View in: PubMed
    Score: 0.013
  27. Keeley J, Benson-Goldberg S, Saldaris J, Lariviere J, Leonard H, Marsh ED, Demarest ST, Benke TA, Jacoby P, Downs J. Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study. Am J Med Genet A. 2024 07; 194(7):e63570.
    View in: PubMed
    Score: 0.013
  28. Saldaris JM, Jacoby P, Marsh ED, Suter B, Leonard H, Olson HE, Rajaraman R, Pestana-Knight E, Weisenberg J, Price D, Drummond C, Benke TA, Demarest S, Downs J. Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study. Epilepsy Res. 2024 02; 200:107287.
    View in: PubMed
    Score: 0.012
  29. Saldaris J, Leonard H, Wong K, Jacoby P, Spence M, Marsh ED, Benke TA, Demarest S, Downs J. Validating the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC) Beyond Infancy in the CDKL5 Deficiency Disorder. J Autism Dev Disord. 2024 Jul; 54(7):2526-2535.
    View in: PubMed
    Score: 0.012
  30. Saldaris JM, Jacoby P, Leonard H, Benke TA, Demarest S, Marsh ED, Downs J. Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials. Epilepsy Behav. 2023 02; 139:109069.
    View in: PubMed
    Score: 0.012
  31. Wong K, Junaid M, Demarest S, Saldaris J, Benke TA, Marsh ED, Downs J, Leonard H. Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder. Eur J Hum Genet. 2023 02; 31(2):169-178.
    View in: PubMed
    Score: 0.011
  32. Leonard H, Whitehouse A, Jacoby P, Benke T, Demarest S, Saldaris J, Wong K, Reddihough D, Williams K, Downs J. Quality of life beyond diagnosis in intellectual disability - Latent profiling. Res Dev Disabil. 2022 Oct; 129:104322.
    View in: PubMed
    Score: 0.011
  33. Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, Olson HE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial. Lancet Neurol. 2022 05; 21(5):417-427.
    View in: PubMed
    Score: 0.011
  34. Saldaris J, Leonard H, Jacoby P, Marsh ED, Benke TA, Demarest S, Downs J. Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand). J Child Neurol. 2022 05; 37(6):541-547.
    View in: PubMed
    Score: 0.011
  35. Jacoby P, Whitehouse A, Leonard H, Saldaris J, Demarest S, Benke T, Downs J. Devising a Missing Data Rule for a Quality of Life Questionnaire-A Simulation Study. J Dev Behav Pediatr. 2022 08 01; 43(6):e414-e418.
    View in: PubMed
    Score: 0.011
  36. 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. Content Validation of Clinician-Reported Items for a Severity Measure for CDKL5 Deficiency Disorder. J Child Neurol. 2021 10; 36(11):998-1006.
    View in: PubMed
    Score: 0.011
  37. Leonard H, Junaid M, Wong K, Demarest S, Downs J. Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder. Epilepsy Res. 2021 01; 169:106521.
    View in: PubMed
    Score: 0.010
  38. MacKay CI, Wong K, Demarest ST, Benke TA, Downs J, Leonard H. Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset. Clin Genet. 2021 01; 99(1):157-165.
    View in: PubMed
    Score: 0.010
  39. Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 08; 88(2):264-273.
    View in: PubMed
    Score: 0.010
  40. de Los Reyes E, Lehwald L, Augustine EF, Berry-Kravis E, Butler K, Cormier N, Demarest S, Lu S, Madden J, Olaya J, See S, Vierhile A, Wheless JW, Yang A, Cohen-Pfeffer J, Chu D, Leal-Pardinas F, Wang RY. Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics. Pediatr Neurol. 2020 09; 110:64-70.
    View in: PubMed
    Score: 0.010
  41. Lim Z, Wong K, Downs J, Bebbington K, Demarest S, Leonard H. Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder. Epilepsy Res. 2018 10; 146:36-40.
    View in: PubMed
    Score: 0.009
  42. Nickels K, Thibert R, Rau S, Demarest S, Wirrell E, Kossoff EH, Joshi C, Nangia S, Shellhaas R. How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey. Epilepsy Res. 2018 08; 144:14-19.
    View in: PubMed
    Score: 0.008
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