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The aim of this review is to revisit the meaning of common concepts and frameworks promoted to capture subjective outcomes of patients, the content of their corresponding measurements, and the preferred sources of the information of interest. This is important because conceptualizations of 'health' and the subject evaluations thereof continue to evolve. Related but distinct concepts like quality of life (QoL), health‐related QoL (HRQoL), functional status, health status, and well‐being are often used indiscriminately to assess clinical impacts of interventions and to influence decisions about patient care and policymaking. The discussion addresses and illustrates the following issues: (1) the required features of effective and valid health‐related concepts; (2) understanding underlying factors that often create confusion about QoL and HRQoL; and (3) how these concepts provide insight into, and promote, health in the context of populations with neurodisability. The hope is to illustrate how a combination of a clear research question, a hypothesis, conceptualization of the required outcomes, and operational definitions of the domains and items of interest, including item mapping, can help to achieve robust methodology and valid findings beyond the required psychometric properties. What this paper adds: The language, content, and the source of perceived health and life issues are clarified.Using the same terms for different constructs, or different terms for the same constructs, creates confusion and hinders outcome research.The challenges of using patient‐reported outcomes in neurodisability are addressed. What this paper adds: The language, content, and the source of perceived health and life issues are clarified.Using the same terms for different constructs, or different terms for the same constructs, creates confusion and hinders outcome research.The challenges of using patient‐reported outcomes in neurodisability are addressed. [ABSTRACT FROM AUTHOR]

Patient and public involvement in health care is considered indispensable in the way we conduct daily pediatric neurology practice, and in the development and utilization of health outcome measurements. This essay examines what meaningful quality evaluations and measurements are, describes the development of approaches to measuring health and outcomes, explores the potential applications of patient-reported outcome measures in pediatric neurology, and identifies opportunities and challenges in using patient-reported outcome measurements in our daily clinical practice. Recent developments have transformed our attitude on how to help children with neurological and developmental conditions and their families: specifically, (1) the recognition of the fundamental rights of children with disabilities; (2) the application of the framework of the International Classification of Functioning, Disability and Health by the World Health Organization that views health from the perspective of both biopsychosocial strengths and functional abilities; (3) the application of qualitative research methodologies to children with neurological conditions and their caregivers to elucidate what they consider essential for their own good health and well-being; and (4) the development of core outcome measurements sets for children and adults with various neurological and developmental conditions. In summary, supporting patients in their role as full partners in clinical care and research enables them to contribute their experiential knowledge and helps ensure that results are relevant and address patient needs, preferences, and priorities. Recognizing the importance of involving young people in their health management decisions has become central in contemporary medicine and needs to be part of the curriculum of all health care professionals. [ABSTRACT FROM AUTHOR]

This review explores children's self‐reported outcome measurements in pediatric neurology. We examine the following questions: (1) What is meant by patient‐reported health, functioning, and quality of life outcomes? (2) How can patients express whether the interventions they receive do more good than harm? (3) Why and how should pediatric neurology patients help determine the outcomes of interest? (4) What tools and recommendations are available to evaluate the outcomes of interest? Applying patients' perspectives across the processes of evaluation of medical interventions has become an important expectation. These developments, consistent with current healthcare goals, coincide with the evolution of pediatric neurology into a sophisticated diagnostic–interventional field that aims to prolong survival, decrease impairments and symptoms, and improve patients' well‐being – the recognized essential endpoints of interest in all medicine. This invited review is commented by Basu on page 143 of this issue. [ABSTRACT FROM AUTHOR]

Summary: Objective: To evaluate the extent to which self‐esteem mediates the impacts of epilepsy‐specific and environmental factors on mental health outcomes in young people with epilepsy. Methods: A prospective cohort of 480 young people with epilepsy and their families participated in five visits over 28 months. We collected data on clinical seizure burden, cognitive comorbidity, peer and parental support, self‐esteem, and self‐reported mental health symptoms. We used structural equation modeling to specify and test relationships among these constructs simultaneously. Direct, indirect, and total effects were estimated with confidence intervals constructed through bias‐corrected bootstrapping. Results: Self‐esteem mediated the effects of clinical seizure burden (β = 0.23, 95% confidence interval [0.05, 0.42]) and peer support (β = −0.15, 95% CI [−0.28, −0.03]) on mental health. There were no mediating effects of parental support (β = −0.07, 95% CI [−0.14, 0.00]) or cognitive comorbidity (β = −0.01, 95% CI [−0.02, 0.01]) on mental health. Significance: We found evidence that self‐esteem mediates the impact that both clinical seizure burden and peer support have on mental health outcomes, indicating that assessment of and interventions targeting self‐esteem may be appropriate for young people with epilepsy. Supporting self‐esteem could mitigate negative influences on mental health, whether from resistant epilepsy or low peer support. [ABSTRACT FROM AUTHOR]

Abstract Childhood epilepsy is one of the most important and prevalent neurological conditions in the developing years. Persons with childhood onset epilepsy are at a high risk for poor psychosocial outcomes, even without experiencing co-morbidities. The goal of management of children with epilepsy should be to enable the child and the family to lead a life as free as possible from the medical and psychosocial complications of epilepsy. This comprehensive care needs to go beyond simply trying to control seizures with minimal adverse drug reactions. Seizure frequency and severity is only one important outcome variable. Other factors such as social, psychological, behavioural, educational, and cultural dimensions of their lives affect children with epilepsy, their families and their close social networks. A number of epilepsy-specific health-related quality of life (HRQL) scales for children have been developed with the aim to include and measure accurately the impact and burden of epilepsy. Their target populations, details of the origin of the items, and psychometric properties vary significantly. Their strengths and weaknesses will be identified more clearly through their continued use in the clinical setting and in research studies. Only a few studies to date have utilized these or generic HRQL measures to assess the HRQL of specific populations with epilepsy. Future research needs to develop theory driven models of HRQL and identify measurable factors that have important correlations with outcomes. Since biomedical variables like seizure frequency and severity have only moderate correlations with HRQL, other independent factors including the child's resilience, co-morbid conditions, parental well-being, family factors and societal/cultural variables may play a major role. We also need to learn what encompasses comprehensive patient care, define the goals of management and evaluate the impact of different interventions. Future studies need to include the children's own perspectives of their HRQL in addition to parental reports. Finally, clinicians need to familiarize themselves with outcome measures, be able to evaluate them, and use them routinely in their day-to-day practice.

Epilepsy of infancy with migrating focal seizures (EIMFS), one of the most severe developmental and epileptic encephalopathy syndromes, is characterized by seizures that migrate from one hemisphere to the other. EIMFS is genetically heterogeneous with 33 genes. We report five patients with EIMFS caused by recessive BRAT1 variants, identified via next generation sequencing. Recessive pathogenic variants in BRAT1 cause the rigidity and multifocal seizure syndrome, lethal neonatal with hypertonia, microcephaly, and intractable multifocal seizures. The epileptology of BRAT1 encephalopathy has not been well described. All five patients were profoundly impaired with seizure onset in the first week of life and focal seizure migration between hemispheres. We show that BRAT1 is an important recessive cause of EIMFS with onset in the first week of life, profound impairment, and early death. Early recognition of this genetic aetiology will inform management and reproductive counselling. [ABSTRACT FROM AUTHOR]

Aim: To compare: (1) self- and proxy-reported quality of life (QoL) in adolescents with epilepsy, cerebral palsy (CP), both epilepsy and CP, and a representative general population sample; and (2) parental stress between parents of adolescents with epilepsy, CP, or both epilepsy and CP.Method: This was a cross-sectional observational study with 496 adolescents with epilepsy, 699 with CP, 192 with both CP and epilepsy, and 15 396 from the general population, assessed with the KIDSCREEN-52 and Parenting Stress Index (PSI).Results: All KIDSCREEN-52 domains showed statistically significant differences across groups. The epilepsy population showed clinically better scores for 'school environment' than the general population (Cohen's d=0.62). Parents scored adolescents with CP lower than adolescents with epilepsy or general populations on 'physical health' (d=0.57, d=0.55) and 'social-support and peers' (d=0.82, d=0.91). Parents of adolescents with CP scored them lower than parents of the epilepsy group on 'autonomy' (d=0.62). Parents of adolescents with epilepsy scored them lower on 'mood and emotions' (d=0.52) and 'social acceptance' (d=0.66) than the general population. PSI scores were better for parents of adolescents with CP than for parents of adolescents with epilepsy (d=2.12, d=2.70, d=3.35, d=1.67).Interpretation: Adolescents with epilepsy or CP self-report equal or better QoL than the general adolescent population, which should comfort families and allow clinicians to address parental concerns.What This Paper Adds: Adolescents with epilepsy, with or without cerebral palsy (CP), self-reported better school environment than adolescents in the general population. Proxy quality of life (QoL) results showed clinically important differences across groups in 6 out of 10 domains of the KIDSCREEN-52. Proxy-reported results showed poorer QoL scores for adolescents with epilepsy or CP than the general population. Parental stress level was lower in parents of children with CP or both CP and epilepsy, than in those with only epilepsy. [ABSTRACT FROM AUTHOR]

Aim: To examine self- and proxy-reported symptoms of depression in children with epilepsy.Method: This was a prospective longitudinal cohort study of children with epilepsy. Participants were treated at six Canadian tertiary-care centers and followed over 28 months with repeated assessments of child self-reported symptoms of depression using the Children's Depression Inventory Short-Form (CDI-S). Trajectories of symptoms of depression were estimated using linear mixed effects (LME) modeling.Results: At baseline, 477 children had complete data (mean age [SD] 11y 5mo [2y 1mo], range 7y 7mo-15y 1mo; 234 females, 243 males). Mean CDI-S T score at baseline was 45.7 (SD=7.5) and at 28 months was 44.9 (SD=8.2), both were within the 'average' range. Results from LME modeling revealed mean raw CDI-S score of 1.897, corrected for age 10 years (corresponding to T scores slightly below the normed mean of 50), with no significant change over three measurements (slope=-0.113, p=0.135), indicating that CDI-S scores were stable over 28 months. Children with high initial CDI-S scores had lower subsequent scores, as demonstrated by the correlation of -0.827 between intercept and slope (p<0.001). Parents reported comparable findings.Interpretation: Self- and proxy-reported symptoms of depression were generally low and stable over an extended follow-up period. Normalization of scores was seen upon repeated assessment, even in children with higher scores of symptoms of depression at one point. These findings speak to the value and importance of repeated assessment over time.What This Paper Adds: In children with epilepsy, self- and proxy-reported symptoms of depression were generally low and stable over 28 months. The trajectory of symptoms of depression was not associated with seizure severity, whether considering the frequency or type of seizures. Parents' reports of symptoms of depression were comparable to the children's self-evaluations. [ABSTRACT FROM AUTHOR]

Aim: To: (1) explore how young people with epilepsy spend time on physical activity, screen-time, and sleep in a 24-hour period; (2) compare these findings to young people without epilepsy; and (3) evaluate the findings relative to the Canadian 24-hour movement guidelines for children and youth.Method: The study is based on Canadian data from the 2013 to 2014 'Health Behaviour in School-aged Children study' (HBSC), a cross-sectional sample of young people aged 10 to 17 years. Three groups participated: 163 young people with epilepsy, 3613 young people with non-neurological conditions, and 18 339 population norms. Self-reported activity data were compared across groups.Results: Demographics were similar across groups. Young people with epilepsy spent 5.8 hours per week on moderate-to-vigorous physical activity versus 5.6 hours per week in population norms; 32% met the recommended 1 hour or more per day. Screen-time was 8.7 hours per day versus 7.4 hours per day in population norms; only 5.4% met the 2 hours or less per day recommendation. Sleep duration was 10.2 hours per day versus 9.8 hours per day in population norms, and 50.7% met the recommendation. Overall, 25.7% of young people with epilepsy did not meet any of the guidelines, 60.5% met one, 13.5% met two, and 0.3% met all three recommendations; whereas 2.8% of population norms and 2% of young people with non-neurological conditions met all three recommendations.Interpretation: These data could inform future interventions and alert policy-makers, health care professionals, parents, educators, and advocacy-groups to the low adherence of young people with epilepsy with Canadian guidelines and their risk for poor health.What This Paper Adds: Young people with epilepsy adhere poorly to Canadian guidelines for daily sleep duration, physical activity, and sedentary screen time. Young people with epilepsy accumulate more screen-time than those with non-neurological conditions or population norms. [ABSTRACT FROM AUTHOR]

In the 21st century, clinicians are expected to listen to, and understand their patients' views about, their conditions and the effects that these conditions have on their functioning, values, life goals, and welfare. The goals of this review are as follows: (i) to inform, update, and guide clinicians caring for children with epilepsy about developments in the content and new methods of research on patient-reported outcomes, quality of life, and functioning; and (ii) to discuss the value of using these concepts to explore the impact of diverse interventions that are implemented in daily practice. Drawing on the literature and our program of research over the past two decades, we focus on our current understanding of a variety of health concepts and recently acquired knowledge about their significance for the lives of patients and their families. We discuss the advantages of measuring patient-reported outcomes that tell us what is important to patients. We advise on what characteristics to look for when choosing a patient-reported measure, and the relevance of these considerations. In addition, we address gaps in research knowledge and the causes of confusion that have limited their use in our daily clinical practice. [ABSTRACT FROM AUTHOR]