The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder

Sonja I Ziniel; Alexandra Mackie; Jacinta Saldaris; Helen Leonard; Peter Jacoby; Eric D Marsh; Bernhard Suter; Elia Pestana-Knight; Heather E Olson; Dana Price; Judith Weisenberg; Rajsekar Rajaraman; Gina VanderVeen; Tim A Benke; Jenny Downs; Scott Demarest

doi:10.1016/j.eplepsyres.2023.107231

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder

Epilepsy Res. 2023 Nov:197:107231. doi: 10.1016/j.eplepsyres.2023.107231. Epub 2023 Sep 20.

Authors

Sonja I Ziniel¹, Alexandra Mackie², Jacinta Saldaris³, Helen Leonard³, Peter Jacoby³, Eric D Marsh⁴, Bernhard Suter⁵, Elia Pestana-Knight⁶, Heather E Olson⁷, Dana Price⁸, Judith Weisenberg⁹, Rajsekar Rajaraman¹⁰, Gina VanderVeen¹¹, Tim A Benke¹¹, Jenny Downs¹², Scott Demarest¹³

Affiliations

¹ University of Colorado School of Medicine Department of Pediatrics, Section of Pediatric Hospital Medicine, 13123 East 16th Avenue, Box 302, Aurora, CO, United States; Children's Hospital Colorado Precision Medicine Institute, 13123 East 16th Avenue, Box 155, Aurora, CO 80045 United States.
² University of Colorado School of Medicine Department of Pediatrics, Section of Neurology, 13123 East 16th Avenue, Box 155, Aurora, CO 80045, United States.
³ University of Western Australia Centre for Child Health Research, Telethon Kids Institute, PO Box 855, West Perth, Western Australia 6872, Australia.
⁴ Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, United States.
⁵ Baylor College of Medicine and Texas Children's Hospital, 6701 Fannin St MWT, Suite 1250, Houston, TX 77030, United States.
⁶ Cleveland Clinic Neurological Institute, Epilepsy Center, S10-024 9500 Euclid Ave, Cleveland, OH 44195, United States.
⁷ Boston Children's Hospital Department of Neurology Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, 300 Longwood Ave, Boston, MA, United States.
⁸ NYU Langone Comprehensive Epilepsy Center, 223 East 34th Street, New York, NY 10016, United States.
⁹ Washington University School of Medicine Department of Neurology, Division of Pediatric Neurology, 660 South Euclid Ave Campus Box 8111, St. Louis, MO 63110 United States.
¹⁰ David Geffen School of Medicine and UCLA Mattel Children's Hospital Division of Pediatric Neurology, 10833 Le Conte Ave 22-474 MDCC, Los Angeles, CA 90095 United States.
¹¹ Children's Hospital Colorado Precision Medicine Institute, 13123 East 16th Avenue, Box 155, Aurora, CO 80045 United States; University of Colorado School of Medicine Department of Pediatrics, Section of Neurology, 13123 East 16th Avenue, Box 155, Aurora, CO 80045, United States.
¹² University of Western Australia Centre for Child Health Research, Telethon Kids Institute, PO Box 855, West Perth, Western Australia 6872, Australia; Curtin University, Curtin School of Allied Health, GPO Box U1987, Perth, Western Australia 6845, Australia.
¹³ Children's Hospital Colorado Precision Medicine Institute, 13123 East 16th Avenue, Box 155, Aurora, CO 80045 United States; University of Colorado School of Medicine Department of Pediatrics, Section of Neurology, 13123 East 16th Avenue, Box 155, Aurora, CO 80045, United States. Electronic address: scott.demarest@childrenscolorado.org.

Abstract

Background: CDKL5 Deficiency Disorder (CDD) is a severe X-linked developmental and epileptic encephalopathy. Existing developmental outcome measures have floor effects and cannot capture incremental changes in symptoms. We modified the caregiver portion of a CDD clinical severity assessment (CCSA) and assessed content and response-process validity.

Methods: We conducted cognitive interviews with 15 parent caregivers of 1-39-year-old children with CDD. Caregivers discussed their understanding and concerns regarding appropriateness of both questions and answer options. Item wording and questionnaire structure were adjusted iteratively to ensure questions were understood as intended.

Results: The CCSA was refined during three rounds of cognitive interviews into two measures: (1) the CDD Developmental Questionnaire - Caregiver (CDQ-Caregiver) focused on developmental skills, and (2) the CDD Clinical Severity Assessment - Caregiver (CCSA-Caregiver) focused on symptom severity. Branching logic was used to ensure questions were age and skill appropriate. Initial pilot data (n = 11) suggested no floor effects.

Conclusions: This study modified the caregiver portion of the initial CCSA and provided evidence for its content and response process validity.

Keywords: CDKL5 deficiency disorder; Caregiver-report; Developmental attainment; Outcome measure; Severity; Validation.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Caregivers / psychology
Child
Child, Preschool
Epileptic Syndromes* / diagnosis
Epileptic Syndromes* / genetics
Humans
Infant
Protein Serine-Threonine Kinases / genetics
Spasms, Infantile* / diagnosis
Spasms, Infantile* / genetics
Surveys and Questionnaires
Young Adult

The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder

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