Phenotyping behaviour and development in Dravet Syndrome

Phenotyping behaviour and development in Dravet Syndrome - Phenotyping behaviour in Dravet syndrome

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON53592

Enrollment

150

Registered

2022-04-28

Start date

2024-05-21

Completion date

Unknown

Last updated

2025-08-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

mutation in the SCN1A gene the Dravet syndrome

Interventions

None listed

Eligibility

Age

2 Years to 64 Years

Inclusion criteria

Inclusion criteria: • Subjects are diagnosed with Dravet syndrome (genetically confirmed SCN1A mutation) • Subjects are living in the Netherlands • Subjects speak the Dutch language • Age 2 years and older

Exclusion criteria

Exclusion criteria: • Patients with a variant of unknown significance (class III) in the SCN1A gene

Design outcomes

Primary

Measure	Time frame
1) First, we aim to explore changes in behavioural measures (as measured by the CBCL/ABCL) over time in children with DS. 2) Second, we will study parental empowerment and quality of life (QoL) of parents caring for a child with DS. We will explore correlations between QoL and clinical measures. 3) Third, we aim to explore the psychiatric phenotype of SCN1A-related Dravet syndrome in depth and to explore correlations between behavioural measures and clinical characteristics including epilepsy severity, medication use, cognitive development, speech and language problems, sleep difficulties, nutritional problems, early development, HRQoL and effects of SCN1A gene mutation. We aim to identify clinical characteristics that are associated with more severe behavioural disturbances (risk factors) and protective factors, to facilitate early recognition and intervention. Ultimately, this will support parents in the management of their child*s health and behaviour. Main study parameters are the average scores on behavioural and cognitive measures, including Child and adult behaviour checklist (CBCL/ABCL), Adaptive Behavior Assessment System (ABAS), Intelligence and Development Scales (IDS), Autism Diagnostic Observation Schedule (ADOS), and Family empowerment scale (FES); and main endpoints are correlations between behavioural difficulties and clinical characteristics such as seizure severity, medication use and level of cognitive functioning.	—

Measure

Time frame

1) First, we aim to explore changes in behavioural measures (as measured by the CBCL/ABCL) over time in children with DS. 2) Second, we will study parental empowerment and quality of life (QoL) of parents caring for a child with DS. We will explore correlations between QoL and clinical measures. 3) Third, we aim to explore the psychiatric phenotype of SCN1A-related Dravet syndrome in depth and to explore correlations between behavioural measures and clinical characteristics including epilepsy severity, medication use, cognitive development, speech and language problems, sleep difficulties, nutritional problems, early development, HRQoL and effects of SCN1A gene mutation. We aim to identify clinical characteristics that are associated with more severe behavioural disturbances (risk factors) and protective factors, to facilitate early recognition and intervention. Ultimately, this will support parents in the management of their child*s health and behaviour. Main study parameters are the average scores on behavioural and cognitive measures, including Child and adult behaviour checklist (CBCL/ABCL), Adaptive Behavior Assessment System (ABAS), Intelligence and Development Scales (IDS), Autism Diagnostic Observation Schedule (ADOS), and Family empowerment scale (FES); and main endpoints are correlations between behavioural difficulties and clinical characteristics such as seizure severity, medication use and level of cognitive functioning.

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Countries

Netherlands

Outcome results