Learnings in developmental and epileptic encephalopathies: what do we know?

Perinelli, Martina Giorgia; Riva, Antonella; Amadori, Elisabetta; Follo, Roberta; Striano, Pasquale

doi:10.1080/14737175.2023.2176221

Cited by 5 publications

(4 citation statements)

References 94 publications

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“…Further evidence emphasizing the necessity of accurate behavioral assessment in DS is the observed underutilization of psychological services by parents, despite reported behavioral problems (Brown et al, 2020 ; Perinelli et al, 2023 ). This underutilization of available resources may result in an increased burden on patient care and a failure to apply appropriate therapies to address associated comorbidities.…”

Section: Toward a Comprehensive Behavioral Assessment In Dravet Syndromementioning

confidence: 99%

Assessment of aggressive behavior in Dravet syndrome: a critical look

Torres-Fortuny,

Aras,

Duñabeitia

2024

Front. Integr. Neurosci.

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Section: Toward a Comprehensive Behavioral Assessment In Dravet Syndromementioning

confidence: 99%

Assessment of aggressive behavior in Dravet syndrome: a critical look

Torres-Fortuny,

Aras,

Duñabeitia

2024

Front. Integr. Neurosci.

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“…5,13 There is also evidence to suggest that early use of neuro-visual rehabilitation through stimulation of eye movements can enhance development based on neuronal plasticity. 33 The International League Against Epilepsy (ILAE) developed a modified classification and framework for seizures in the neonatal period, 34 in line with 2017 ILAE classifications, 35 as neonatal seizures may not fit easily into classification schemes for seizures and epilepsies primarily developed for older children and adults. It further proposed classification and definition of epilepsy syndromes with onset in neonates and infants, including CDD.…”

Section: • Diagnosis By Key Clinical Features and Genetic Test-mentioning

confidence: 99%

“… 5 , 13 There is also evidence to suggest that early use of neuro‐visual rehabilitation through stimulation of eye movements can enhance development based on neuronal plasticity. 33 …”

Section: Introductionmentioning

confidence: 99%

“…Non‐pharmacological treatments that are part of the multidisciplinary care surrounding the non‐seizure symptoms of CDD include speech therapy, physiotherapy, psychosocial support, and occupational therapy 5,13 . There is also evidence to suggest that early use of neuro‐visual rehabilitation through stimulation of eye movements can enhance development based on neuronal plasticity 33 …”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey

Amin,

Møller,

Aledo‐Serrano

et al. 2024

Epilepsia Open

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Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The disorder is characterized by intractable early‐onset seizures, severe neurodevelopmental delay, hypotonia, motor disabilities, cerebral (cortical) visual impairment and microcephaly. With no disease‐modifying therapies available for CDD, treatment is symptomatic with an initial focus on seizure control. Another unmet need in the management of people with CDD is the lack of evidence to aid standardized care and guideline development. To address this gap, experts in CDD and representatives from patient advocacy groups from Denmark, Finland, France, Germany, Italy, Poland, Spain, and the United Kingdom convened to form an Expert Working Group. The aim was to provide an expert opinion consensus on how to ensure quality care in routine clinical practice within the European setting, including in settings with limited experience or resources for multidisciplinary care of CDD and other developmental and epileptic encephalopathies. By means of one‐to‐one interviews around the current treatment landscape in CDD, insights from the Expert Working Group were collated and developed into a Europe‐specific patient journey for individuals with CDD, which was later validated by the group. Further discussions followed to gain consensus of opinions on challenges and potential solutions for achieving quality care in this setting. The panel recognized the benefit of early genetic testing, a holistic personalized approach to seizure control (taking into consideration various factors such as concomitant medications and comorbidities), and age‐ and comorbidity‐dependent multidisciplinary care for optimizing patient outcomes and quality of life. However, their insights and experiences also highlighted much disparity in management approaches and resources across different European countries. Development of standardized European recommendations is required to align realistic diagnostic criteria, treatment goals, and management approaches that can be adapted for different settings.Plain language summaryCyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a rare condition caused by a genetic mutation with a broad range of symptoms apparent from early childhood, including epileptic seizures that do not respond to medication and severe delays in development. Due to the lack of guidance on managing CDD, international experts and patient advocates discussed best practices in the care of people with CDD in Europe. The panel agreed that early testing, a personalized approach to managing seizures, and access to care from different disciplines are beneficial. Development of guidelines to ensure that care is standardized would also be valuable.

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