ABSTRACT
PURPOSE: Differentiating between Dravet syndrome and non-Dravet SCN1A-related phenotypes is important for prognosis regarding epilepsy severity, cognitive development, and comorbidities. When a child is diagnosed with genetic epilepsy with febrile seizures plus (GEFS+) or febrile seizures (FS), accurate prognostic information is essential as well, but detailed information on seizure course, seizure freedom, medication use, and comorbidities is lacking for this milder patient group. In this cross-sectional study, we explore disease characteristics in milder SCN1A-related phenotypes and the nature, occurrence, and relationships of SCN1A-related comorbidities in both patients with Dravet and non-Dravet syndromes. METHODS: A cohort of 164 Dutch participants with SCN1A-related seizures was evaluated, consisting of 116 patients with Dravet syndrome and 48 patients with either GEFS+, febrile seizures plus (FS+), or FS. Clinical data were collected from medical records, semi-structured telephone interviews, and three questionnaires: the Functional Mobility Scale (FMS), the Pediatric Quality of Life Inventory (PedsQL) Measurement Model, and the Child or Adult Behavior Checklists (CBCL/ABCL). RESULTS: Walking disabilities and severe behavioral problems affect 71% and 43% of patients with Dravet syndrome respectively and are almost never present in patients with non-Dravet syndromes. These comorbidities are strongly correlated to lower quality-of-life (QoL) scores. Less severe comorbidities occur in patients with non-Dravet syndromes: learning problems and psychological/behavioral problems are reported for 27% and 38% respectively. The average QoL score of the non-Dravet group was comparable with that of the general population. The majority of patients with non-Dravet syndromes becomes seizure-free after 10â¯years of age (85%). CONCLUSIONS: Severe behavioral problems and walking disabilities are common in patients with Dravet syndrome and should receive specific attention during clinical management. Although the epilepsy course of patients with non-Dravet syndromes is much more favorable, milder comorbidities frequently occur in this group as well. Our results may be of great value for clinical care and informing newly diagnosed patients and their parents about prognosis.
Subject(s)
Epilepsies, Myoclonic/epidemiology , Epilepsies, Myoclonic/genetics , Epilepsy/epidemiology , Epilepsy/genetics , NAV1.1 Voltage-Gated Sodium Channel/genetics , Adolescent , Adult , Aged , Child , Child, Preschool , Cohort Studies , Comorbidity , Cross-Sectional Studies , Epilepsies, Myoclonic/diagnosis , Epilepsy/diagnosis , Epileptic Syndromes/diagnosis , Epileptic Syndromes/epidemiology , Epileptic Syndromes/genetics , Female , Humans , Male , Middle Aged , Quality of Life , Retrospective Studies , Seizures, Febrile/diagnosis , Seizures, Febrile/epidemiology , Seizures, Febrile/genetics , Spasms, Infantile/diagnosis , Spasms, Infantile/epidemiology , Spasms, Infantile/genetics , Surveys and Questionnaires , Treatment Outcome , Young AdultABSTRACT
OBJECTIVE: Behavior problems in Dravet syndrome (DS) are common and can impact the lives of patients tremendously. The current study aimed to give more insight into (1) the prevalence of a wide range of specific behavior difficulties and aspects of health-related quality of life (HRQoL) in patients with DS compared with the general population (gp) and patients with epilepsy without DS, (2) the relations between these behavior problems and different aspects of HRQoL, and (3) the associations between seizure frequency, cognitive impairment (CI), behavior problems, and HRQoL, based on a conceptual model. METHODS: One hundred and sixteen patients (aged between 2 and 67â¯years), affected by SCN1A-related seizures, were included in the study. Eighty-five were patients with DS, 31 were patients with epilepsy without DS. Behavior problems were measured using the Child/Adult Behavior Checklist (C/ABCL), HRQoL was measured using the Pediatric Quality of Life Inventory (PedsQL) Measurement Model. Other characteristics were obtained by clinical assessments, medical records, and semi-structured telephone interviews with parents. Comparisons between patients with DS, patients without DS, and the gp were calculated by the exact goodness of fit χ2 analyses, relations between subscales were analyzed using Pearson's correlations, and the conceptual model was tested in a path analysis. RESULTS: (1) Patients with DS show significantly more behavior problems compared with the gp and patients with epilepsy without DS. A total of 56.5% of patients with DS scored in the borderline and clinical ranges for total behavior problems. Problems with attention were most prevalent; 62.3% of patients with DS scored in the borderline and clinical ranges. Health-related quality of life was significantly lower for patients with DS compared with the gp and patients without DS. Physical and social functioning scores were especially low and decreased even more in the older age categories. (2) Problems with attention, aggression, and withdrawn behavior were most related to social functioning. Somatic problems and anxiety/depression were most related to emotional functioning. (3) Cognitive impairment and behavior problems were both independent predictors of poorer HRQoL in patients with DS, with behavior problems being the strongest predictor. Seizure frequency was only indirectly related to HRQoL, mediated by cognitive impairment. IMPLICATIONS: The high prevalence of behavior problems in DS and the significant impact on quality of life (QoL), independent of epilepsy-related factors, emphasize the need for active management and treatment of these problems and should be considered as part of the management plan.
Subject(s)
Epilepsies, Myoclonic/genetics , Epilepsies, Myoclonic/psychology , Problem Behavior/psychology , Quality of Life/psychology , Adolescent , Adult , Aged , Child , Child, Preschool , Cohort Studies , Depression/diagnosis , Depression/genetics , Depression/psychology , Epilepsies, Myoclonic/diagnosis , Epilepsy/diagnosis , Epilepsy/genetics , Epilepsy/psychology , Epileptic Syndromes/diagnosis , Epileptic Syndromes/genetics , Epileptic Syndromes/psychology , Female , Humans , Male , Middle Aged , NAV1.1 Voltage-Gated Sodium Channel/genetics , Rett Syndrome/diagnosis , Rett Syndrome/genetics , Rett Syndrome/psychology , Seizures/diagnosis , Seizures/genetics , Seizures/psychology , Social Adjustment , Spasms, Infantile/diagnosis , Spasms, Infantile/genetics , Spasms, Infantile/psychology , Surveys and Questionnaires , Young AdultABSTRACT
OBJECTIVE: The PAL project develops a conversational agent with a physical (robot) and virtual (avatar) embodiment to support diabetes self-management of children ubiquitously. This paper assesses 1) the effect of perceived similarity between robot and avatar on children's' friendship towards the avatar, and 2) the effect of this friendship on usability of a self-management application containing the avatar (a) and children's motivation to play with it (b). METHODS: During a four-day diabetes camp in the Netherlands, 21 children participated in interactions with both agent embodiments. Questionnaires measured perceived similarity, friendship, motivation to play with the app and its usability. RESULTS: Children felt stronger friendship towards the physical robot than towards the avatar. The more children perceived the robot and its avatar as the same agency, the stronger their friendship with the avatar was. The stronger their friendship with the avatar, the more they were motivated to play with the app and the higher the app scored on usability. CONCLUSION: The combination of physical and virtual embodiments seems to provide a unique opportunity for building ubiquitous long-term child-agent friendships. PRACTICE IMPLICATIONS: an avatar complementing a physical robot in health care could increase children's motivation and adherence to use self-management support systems.
