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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., (© 2023 Mac Keith Press.)

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., (© 2021 Mac Keith Press.)

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., (© 2019 Mac Keith Press.)

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., (© 2020 Mac Keith Press.)

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., (© 2019 Mac Keith Press.)

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., (© 2019 Mac Keith Press.)

Aims: The aims of this study were to (1) search the literature in order to identify the challenges facing adolescents and emerging adults with epilepsy; and (2) categorize these issues within both the framework of the International Classification of Functioning, Disability and Health (ICF) and an empirical model of quality of life (QOL) in childhood epilepsy., Method: We systematically searched PsycINFO, Ovid MEDLINE and Web of Science for studies reporting on QOL and health identified in people with epilepsy aged 12 to 29 years. Studies were limited to those that were published in the last 20 years in English, presenting the patient perspective. Data were extracted and charted using a descriptive analytical method. Identified issues were classified according to the ICF and QOL frameworks., Results: Fifty four studies were identified. Another 62 studies with potentially useful information were included as an addendum. The studies highlight a range of psychosocial issues emphasizing peer acceptance, social isolation, and feelings of anxiety, fear, and sadness., Interpretation: The ICF and QOL constructs represent useful starting points in the analytical classification of the potential challenges faced by adolescents with epilepsy. Progress is needed on fully classifying issues not included under these frameworks. We propose to expand these frameworks to include comorbidities, impending medical interventions, and concerns for future education, employment, marriage, dignity, and autonomy., (© 2013 Mac Keith Press.)

This paper discusses how to evaluate whether, and in what ways, treatments affect the lives of children with neurological conditions and their families. We argue that professionals should incorporate perspectives from patients and families to help them make decisions about what 'outcomes' are important, and we discuss how those outcomes might be assessed. A case vignette illustrates the differences and complementarity between the perspectives of clinicians and those of children and their parents. We recommend methods for expanding the range of relevant health outcomes in child neurology to include those that reflect the ways patients and families view their conditions and our interventions. We explore the added value of a 'non-categorical' approach to the choice of outcomes. The International Classification of Functioning, Disability and Health is a useful biopsychosocial framework to 'rule in' relevant aspects of child and family issues to create a dynamic system of possible influences on outcomes. We examine the meaning of 'health', 'health-related quality of life', and 'quality of life' as related but conceptually distinct outcomes. Specific issues are discussed about the construction, validation, and appraisal of outcome measures, as well as practical recommendations on how to select outcome measures in the clinical setting and research., (© The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.)

Aim: rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these females., Method: we compared the survival of all Austrian female participants from Rett's historical cohort (1966) with that of affected females registered in the Australian Rett Syndrome Database. The analysis included both Kaplan-Meier analysis and a log-rank test for equality of survivor functions., Results: of females in the original Austrian group, three are still alive. The median age at death was 13 years 4.8 months. The probability of survival up to the age of 25 years was 21%, compared with 71% in the Australian cohort (p<0.001). We found no practical or statistically significant differences in survival between the various birth year groups within the Australian cohort., Interpretation: our data indicate that survival of females with Rett syndrome has improved since the late 1960s but that there has been shown no change in survival over the last 30 years, possibly because the follow-up time has been too short.

Aim: There are many misconceptions about what constitutes 'quality of life' (QoL). It is often difficult for researchers and clinicians to determine which instruments will be most appropriate to their purpose. The aim of the current paper is to describe QoL instruments for children and adolescents with neurodisabilities against criteria that we think are important when choosing or developing a QoL instrument., Method: QoL instruments for children and adolescents with neurodisabilities were reviewed and described based on their purpose, conceptual focus, origin of domains and items, opportunity for self report, clarity (lack of ambiguity), potential threat to self-esteem, cognitive or emotional burden, number of items and time to complete, and psychometric properties., Results: Several generic and condition-specific instruments were identified for administration to children and adolescents with neurodisabilities - cerebral palsy, epilepsy and spina bifida, and hydrocephalus. Many have parent-proxy and self-report versions and adequate reliability and validity. However, they were often developed with minimal involvement from families, focus on functioning rather than well-being, and have items that may produce emotional upset., Interpretation: As well as ensuring that a QoL instrument has sound psychometric properties, researchers and clinicians should understand how an instrument's theoretical focus will have influenced domains, items, and scoring.