17 research outputs found
Symptoms of anxiety and depression in school-aged children with active epilepsy: A population-based study
Children (5-15 years) with active epilepsy were screened using the parent-report (n=69) and self-report (n=48) versions of the Spence Children's Anxiety Scale (SCAS) and the self-report version of the Children's Depression Inventory (CDI) (n=48) in a population-based sample. A total of 32.2% of children (self-report) and 15.2% of children (parent-report) scored ≥1 SD above the mean on the SCAS total score. The subscales where most difficulty were reported on parent-report were Physical Injury and Separation Anxiety. There was less variation on self-report. On the CDI, 20.9% of young people scored ≥1 SD above the mean. Children reported significantly more symptoms of anxiety on the SCAS total score and three of the subscales (p<.05). There was a significant effect on the SCAS total score of respondents by seizure type interaction, suggesting higher scores on SCAS for children with generalized seizures on self- but not parent-report. Higher CDI scores were significantly associated with generalized seizures (p>.05).Symptoms of anxiety were more common based on self-report compared with parent-report. Children with generalized seizures reported more symptoms of depression and anxiety
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes. As affected individuals may survive into adulthood, we use the term 'alternating hemiplegia'. The disorder is characterized by early-onset, recurrent, often alternating, hemiplegic episodes; seizures and non-paroxysmal neurological features also occur. Dysautonomia may occur during hemiplegia or in isolation. Premature mortality can occur in this patient group and is not fully explained. Preventable cardiorespiratory arrest from underlying cardiac dysrhythmia may be a cause. We analysed ECG recordings of 52 patients with alternating hemiplegia from nine countries: all had whole-exome, whole-genome, or direct Sanger sequencing of ATP1A3. Data on autonomic dysfunction, cardiac symptoms, medication, and family history of cardiac disease or sudden death were collected. All had 12-lead electrocardiogram recordings available for cardiac axis, cardiac interval, repolarization pattern, and J-point analysis. Where available, historical and prolonged single-lead electrocardiogram recordings during electrocardiogram-videotelemetry were analysed. Half the cohort (26/52) had resting 12-lead electrocardiogram abnormalities: 25/26 had repolarization (T wave) abnormalities. These abnormalities were significantly more common in people with alternating hemiplegia than in an age-matched disease control group of 52 people with epilepsy. The average corrected QT interval was significantly shorter in people with alternating hemiplegia than in the disease control group. J wave or J-point changes were seen in six people with alternating hemiplegia. Over half the affected cohort (28/52) had intraventricular conduction delay, or incomplete right bundle branch block, a much higher proportion than in the normal population or disease control cohort (P = 0.0164). Abnormalities in alternating hemiplegia were more common in those ≥16 years old, compared with those <16 (P = 0.0095), even with a specific mutation (p.D801N; P = 0.045). Dynamic, beat-to-beat or electrocardiogram-to-electrocardiogram, changes were noted, suggesting the prevalence of abnormalities was underestimated. Electrocardiogram changes occurred independently of seizures or plegic episodes. Electrocardiogram abnormalities are common in alternating hemiplegia, have characteristics reflecting those of inherited cardiac channelopathies and most likely amount to impaired repolarization reserve. The dynamic electrocardiogram and neurological features point to periodic systemic decompensation in ATP1A3-expressing organs. Cardiac dysfunction may account for some of the unexplained premature mortality of alternating hemiplegia. Systematic cardiac investigation is warranted in alternating hemiplegia of childhood, as cardiac arrhythmic morbidity and mortality are potentially preventable
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification
Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI
Cinema-going trajectories in the digital age
The activity of cinema-going constantly evolves and gradually integrates the use of digital data and platforms to become more engaging for the audiences. Combining methods from the fields of Human Computer Interaction and Film Studies, we conducted two workshops seeking to understand cinema audiences’ digital practices and explore how the contemporary cinema-going experience is shaped in the digital age. Our findings suggest that going to the movies constitutes a trajectory during which cinemagoers interact with multiple digital platforms. At the same time, depending on their choices, they construct unique digital identities that represent a set of online behaviours and rituals that cinemagoers adopt before, while and after cinema-going. To inform the design of new, engaging cinemagoing experiences, this research establishes a preliminary map of contemporary cinema-going including digital data and platforms. We then discuss how audiences perceive the potential improvement of the experience and how that would lead to the construction of digital identities
Arterial spin labeling characterization of cerebral perfusion during normal maturation from late childhood into adulthood: normal 'reference range' values and their use in clinical studies
The human brain changes structurally and functionally during adolescence, with associated alterations in cerebral perfusion. We performed dynamic arterial spin labeling (ASL) magnetic resonance imaging in healthy subjects between 8 and 32 years of age, to investigate changes in cerebral hemodynamics during normal development. In addition, an inversion recovery sequence allowed quantification of changes in longitudinal relaxation time (T₁) and equilibrium longitudinal magnetization (M₀). We present mean and reference ranges for normal values of T₁, M₀, cerebral blood flow (CBF), bolus arrival time, and bolus duration in cortical gray matter, to provide a tool for identifying age-matched perfusion abnormalities in this age range in clinical studies. Cerebral blood flow and T₁ relaxation times were negatively correlated with age, without gender or hemisphere differences. The same was true for M₀ anteriorly, but posteriorly, males but not females showed a significant decline in M₀ with increasing age. Two examples of the clinical utility of these data in identifying age-matched perfusion abnormalities, in Sturge-Weber syndrome and sickle cell anemia, are illustrated.</p
Development and validation of a measure
Objective
The goal of the work described here was to develop and validate a measure of the impact of epilepsy on an adolescent’s quality of life that is based on direct exploration of the adolescent’s views.
Methods
Initial scale development was based on data generated through qualitative methods (focus groups) in a previous study [McEwan MJ, Espie CA, Metcalfe J, Brodie MJ, Wilson MT. Seizure 2004;13:15–31]. A draft measure was piloted (n = 30) and refined using correlational methods. Psychometric properties were established by means of a preliminary field trial (n = 78).
Results
An initial item pool of 76 was refined to 50. The structure of the measure mirrored the conceptual model derived from focus group study; Part 1 covered issues relating to adolescent development (identity formation) with five subscales, and Part 2 covered epilepsy-related issues with four subscales. The final GEOS-YP had good internal consistency (α = 0.91) and test–retest reliability (ρ = 0.75). Concurrent and construct validity was acceptable, and the GEOS-YP discriminated on dimensions of clinical importance. Participant feedback suggested the measure has excellent face validity and potential clinical utility.
Conclusions
The GEOS-YP is a direct measure of how adolescents perceive epilepsy impacts their quality of life. The GEOS-YP has sound psychometric properties and provides a relatively brief and potentially useful clinical outcome tool
Features of developmental coordination disorder in active childhood epilepsy: a population-based study
Aims
To provide data on parent‐reported features of developmental coordination disorder (DCD) and describe neurobehavioural comorbidity in children with epilepsy and DCD.
Method
Eighty‐five (74% of those eligible) children (44 males, 41 females; age range 5–15y) with active childhood epilepsy (an epileptic seizure in the last year and/or currently taking antiepileptic drugs) in a population‐based cohort underwent comprehensive multidisciplinary assessment. The DCD Questionnaire (DCD‐Q) was completed by parents (n=69) of children with an IQ>34, of whom 56 did not have cerebral palsy (CP), and were considered for a diagnosis of DCD.
Results
Of those considered for a DCD diagnosis, 16 (29%) met DSM‐IV‐TR criteria whereas 34 (61%) scored in the at‐risk range on the DCD‐Q. The sensitivity of the DCD‐Q was 100% (95% CI 76–100) and specificity was 55% (95% CI 39–70). Significant predictors of higher scores on the DCD‐Q included the presence of autism spectrum disorder, CP, and early seizure onset. Increasing age and IQ were independently associated with higher DCD‐Q scores. Intellectual disability, attention‐deficit–hyperactivity disorder, academic underachievement, and specific memory problems were the most common neurobehavioural difficulties in those with both DCD and epilepsy.
Interpretation
Parent‐reported symptoms of DCD are very common in childhood epilepsy. The DCD‐Q has good sensitivity but lower specificity in this population
Screening for mental health disorders in active childhood epilepsy: population-based data
Background
Children with epilepsy are at increased risk for behavioral and psychiatric disorders and it has been recommended that all children with epilepsy be screened for such conditions. There is thus a need to identify appropriate screening measures in this population.
Methods
Children with active epilepsy (on AEDs and/or had a seizure in the last year) with an IQ > 34 (n = 69) were screened for behavioral/psychiatric disorders using the parent and teacher versions of the Strengths and Difficulties Questionnaire (SDQ) in a population-based sample. Consensus clinical diagnoses were made with respect to DSM-IV-TR data. Parent and teacher responses on the SDQ total and subscales were compared using paired samples t-tests and Pearson's correlation. The screening properties of the SDQ were explored. Regression using generalized estimating equations was used to identify predictors of responses on the SDQ.
Results
62% of children received a DSM-IV-TR diagnosis. On the total SDQ score the number of children identified at risk by parents (61%) was higher than the number identified by teachers (43%). Mean parent scores were significantly higher than teacher scores on the SDQ Conduct and Hyperactive subscales and total score after Bonferroni correction (adjusted alpha p < .007). Sensitivity and specificity of the SDQ total score were maximized by combining parent and teacher responses. The positive predictive values (PPVs) were much higher for the total score than the specific subscales suggesting that while the SDQ total score has good predictive ability the specific scales are less useful. Respondent (i.e., parent and teacher) was a significant predictor of scores for some but not all subscales.
Conclusion
The SDQ can be considered a promising tool for screening children with active epilepsy provided the total score is used as a screener for the presence of any DSM-IV-TR disorder and multi-informant data are used