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Diagnosing CDKL5 Deficiency Disorder (CDD)

5

Accredited (Credits: 0.5)
Free
26min
Audio: English

Synopsis

This activity will cover the defining clinical indicators of CDKL5 Deficiency Disorder — including early-onset seizures and developmental delays — and the strategies needed to accurately differentiate CDD from disorders with overlapping presentations. Learners will explore the critical importance of timely diagnosis, the role of genetic testing including epilepsy gene panels and exome sequencing in confirming diagnosis and guiding individualized care, and the emerging treatment options now available to reduce seizure frequency and meaningfully improve quality of life for patients and their families. This activity is supported by UCB. UCB has had no input or editorial control over the content of this activity. This activity is provided by Wiley Medical Education. Disclaimer: Parts of this programme's content were developed using Claude Opus 4.7 (May 2026). All materials were reviewed and approved by the Wiley content strategist team and an external peer reviewer. No clinical material was created with the use of Claude or any other artificial intelligence.

Objectives

After completing this activity, participants should be better prepared to:

  • Discuss the key clinical indicators of CDD, such as early-onset seizures and developmental delays.
  • Examine the complexities in differentiating CDD from other disorders with overlapping symptoms and share strategies for accurate identification.
  • Emphasize the critical impact of early diagnosis in managing seizures and improving developmental outcomes.
  • Explore the complexity and importance of genetic testing for confirming CDD diagnosis, providing prognostic insights and guiding individualized strategies.
  • Discuss the utilization of epilepsy gene panels and exome sequencing including high-yield genes like CDKL5.

Accreditation

This course is accredited with 0.5 ECMEC credits valid in 26 countries. To claim your credits take the evaluation (satisfaction survey and evaluation questionnaire). You have 3 attempts for the evaluation. You need to pass the evaluation with a sufficient score to validate the course. Your diploma is issued instantaneously and sent to your email.

See more information on the accreditation at: Accreditation

Duration

26min

Target audience

General practice, Neurology, Pediatrics

Authors

Prof J. Helen Cross

Prof. J. Helen Cross is The Prince of Wales’s Chair of Childhood Epilepsy and Director of the UCL Great Ormond Street Institute of Child Health. She is also an Honorary Consultant in Paediatric Neurology at Great Ormond Street Hospital and Young Epilepsy, UK. An internationally recognised expert in childhood epilepsy, her research focuses on improving outcomes in early-onset epilepsy, particularly through assessing the role of surgery and ketogenic diet. She has held numerous international leadership roles, including President of the International League Against Epilepsy (2021–2025), and currently serves as Clinical Advisor to the UK National Children’s Epilepsy Surgery Service.

Conflicts of interests statement:

The author has received honoraria and research support from companies involved in the development of therapies for epilepsy, including Biocodex, Nutricia, Jazz Pharmaceuticals, UCB, Stoke Therapeutics, and Encoded Therapeutics.

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FAQs

What you will learn

Before you begin

  • Pre-course assessment: please complete to help us personalize your learning experience

Module1. Introduction

  • Setting the clinical context

Module 2. Recognition and diagnosis

  • Early recognition and clinical presentation
  • Diagnostic pathway and genetic confirmation

Module 3. Current therapeutic strategies

  • Pharmacological management

Module 4. Comprehensive care

  • Multidisciplinary management and supportive therapies

Module 5. Key take-home messages

  • Clinical Practice Pearls

Accreditation - Evaluation

  • Satisfaction survey
  • Multiple-choice test

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Over 100,000 doctors have already joined Xpeer — register now to find out why, and get instant access to this course and many more.

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