CDKL5 Recommendations : simplebooklet.com

Message International ConsensusRecommendations for theAssessment and Managementof Individuals With CDKL5Deficiency Disorder© 2025 CDKL5 in ColorWritten & designed by Marissa Bishopa breakdown of this important publicationwritten for CDKL5 caregiversAmin S, Monaghan M, Aledo-Serrano Al, Bahi-Buisson N, Chin RF, Clarke AJ, et al.

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In 2022, CDKL5 expert clinicians from around the world united in an effortto achieve consensus in their recommendations for the assessment andmanagement of CDKL5 Deficiency Disorder.It’s an exciting publication for us as caregivers because it is filled withconcrete actions we can advocate for at baseline, annually, and asclinically indicated by doctors.We encourage you to take these recommendations to your child’s doctorsand start a dialogue towards getting your child the best care they canhave! Each area’s recommendations are outlined below for yourconvenience.Click to read the publication in its entirety: Amin S, Monaghan M, Aledo-Serrano Al, Bahi-Buisson N, Chin RF, Clarke AJ, et al. InternationalConsensus Recommendations for the Assessment and Management ofIndividuals With CDKL5 Deficiency Disorder Frontiers in Neurology(2022) 13: 1-16 doi: 10.3389/fneur.2022.874695© 2025 CDKL5 in ColorFrom the ExpertsGenetic TestingGenetic testing should be offered to all individuals with Developmental &Epileptic Encephalopathy (DEE) to confirm diagnosis.Neurological: Clinical managementAt Baseline - Review by a pediatric neurologist and (if not the sameprofessional) an epilepsy specialist. Families should be informed aboutSudden Unexpected Death in Epilepsy (SUDEP).

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© 2025 CDKL5 in ColorAnnually - Review by a pediatric neurologist and (if not the sameprofessional) an epilepsy specialist. Neurological: NeuroimagingAt Baseline - Individuals should be investigated with a brain MRI scan.Neurological: EEGAt Baseline - EEG (regardless of clinical seizure status).As Clinically Indicated - An EEG should be repeated to capture andclassify spells of unclear clinical significance. Neurological: Anti-seizure drugsAs Clinically Indicated - Individuals with seizures should be offeredZtalmy (Ganaxolone), if available. Equally, CBD (Epidiolex) should beoffered for epilepsy with CDD, provided this met legal and regulatoryrequirements.Neurological: Epilepsy surgeryAt Baseline - Individuals should be considered for a VNS insertion ifseizures are refractory to medications. Individuals should be consideredfor corpus callosotomy if seizures are refractory to medication.Neurological: Stereotypes and movement disordersAt Baseline - Individuals should be screened for movement disorders andhave these treated if causing problems.Annually - Individuals should be screened for movement disorders andhave these treated if causing problems.

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© 2025 CDKL5 in ColorNeurological: SomnologyAt Baseline - Individuals should have their sleep assessed by theirclinician.Annually - Individuals should have their sleep assessed by their clinician. Systemic: AuxologyAt Baseline - Assessment of head circumference, weight and height.Annually - Assessment of head circumference, weight and height.As Clinically Indicated - Assessment of head circumference, weight andheight.Systemic: RespiratoryAt Baseline - A non-specialist respiratory assessment to screen forbreathing disorders, including hyperventilation, breath-holding or otherconditions. Annually - A non-specialist respiratory assessment to screen forbreathing disorders, including hyperventilation, breath-holding or otherSystemic: Gastrointestinal management including assessmentand management of feedingAt Baseline - Assessment of gastrointestinal complications such asconstipation, air swallowing and acid reflux. Individuals should bereferred to a Gastrointestinal specialist as well as a Nutrition specialist.Non-specialist feeding and swallowing should be assessed during clinicreviews.Annually - Assessment of gastrointestinal complications such asconstipation, air swallowing and acid reflux. Non-specialist feeding andswallowing should be assessed during clinic reviews.As Clinically Indicated - A gastrostomy should be considered either whenweight plateaus or BMI tails inappropriately or when swallowing isconsidered unsafe.

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© 2025 CDKL5 in Colorconditions.As Clinically Indicated - Referral to a Pulmonologist/respiratory clinician. Systemic: CardiologyAt Baseline - Screening for cardiac issues and this should include an ECG.Systemic: AudiologyAt Baseline - Individuals should have an audiological assessment in theform of auditory brainstem response (AABR) screening.Systemic: DermatologyAt Baseline - Individuals should have a routine skin check for pressureulcers and skin breakdown. Annually - Individuals should have a routine skin check for pressureulcers and skin breakdown. Systemic: UrologyAt Baseline - Bladder related issues should be checked regularly (e.g., toassess for urinary retention and urinary tract infections). Annually - Bladder related issues should be checked regularly (e.g., toassess for urinary retention and urinary tract infections). Systemic: Dental careAt Baseline - Individuals should have a dental check.Annually - Individuals should have a dental check.Systemic: FinancialAt Baseline - Financial support options should be explored.Annually - Financial support options should be explored.

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© 2025 CDKL5 in ColorTherapy assessments and interventions: NeurorehabilitationAt Baseline - Referral to a neuro-rehabilitation service to assessequipment needs and diagnose problems causing impairment of mobilityor hand function and to prevent contractures. Annually - Referral to a neuro-rehabilitation service to assess equipmentneeds and diagnose problems causing impairment of mobility or handfunction and to prevent contractures. Therapy assessments and interventions: DevelopmentAs Clinically Indicated - Development should be assessed during infancy(0–3 years), preschool age (3–6 years), pre-middle school age (6–9 years),adolescence age (12–16 years, early adulthood (18–25 years) and asneeded thereafter.Therapy assessments and interventions: OphthalmologyAt Baseline - Individuals should have a detailed vision assessment.Individuals should be referred for assessment and management ofCortical Visual Impairment (CVI) by an ophthalmologist familiar with thiscondition. Therapy assessments and interventions: CommunicationAt Baseline - Individuals should be offered a speech therapy assessmentand assessed for augmentative and assistive communication aids such asswitches, touch pads or eye gaze aids.Therapy assessments and interventions: OrthopedicsAs Clinically Indicated - Hip and spine X-ray if there is a clinical concern.Screening test for osteopenia (such as wrist X-ray or DEXA scan) if there isa clinical concern.

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© 2025 CDKL5 in ColorTherapy assessments and interventions: Physiotherapy (PT)At Baseline - Individuals should be offered PT assessment.As Clinically Indicated - Access to PT regularly for any ongoing issues.Therapy assessments and interventions: Occupational therapy(OT)At Baseline - Individuals should be offered an OT assessment.As Clinically Indicated - Access to OT for any ongoing issues.Therapy assessments and interventions: EducationalAt Baseline - Formal educational plans should be reviewed.Annually - Formal educational plans should be reviewed.As Clinically Indicated - Educational accommodations should be made ifvisual impairment is present.International registryAt Baseline - All individuals with CDD should be offered to be enrolled inan international registry or other research studies.Be Part of the Change for CDKL5!We need everyone diagnosed with CDD to be known! Please join each ofthe three registry opportunities:Connect CDKL5 - You’ll be counted for CDKL5 and get on the mailinglist for information critical to know!International CDKL5 Disorder Database - Enter into the longestrunning collection of CDKL5 patient data!CDKL5 Registry - Help advance CDKL5 research and gain betterinsights on your child or loved one with CDD! *no longer recruiting

CDKL5 Recommendations