What supports and services post COVID-19 do children with disabilities and their parents need and want, now and into the future?

Introduction: Children and youth with disabilities and special healthcare needs, and their families, have been uniquely affected by the COVID-19 pandemic. However, the voices of children themselves are still not well represented in the existing literature. Methods: This qualitative descriptive study used a combination of visual methods and interviews to learn about the experiences of Canadian children with disabilities (n=18) and their parents (n=14) during the COVID pandemic and into the post-pandemic period. Data collection was carried out between January and July 2023. The aim was to identify the supports and services children and families need at present and moving forward. Results: Families' pandemic experiences were complex and nuanced. For many, the pandemic complicated and disrupted everyday activities and supports. These disruptions were largely buffered by parents. However, some families also identified unexpected benefits. Key themes pertaining to present and future needs included the need for services that are flexible; consistent; conducive to relationship-building; comprehensive; coordinated across sectors; and designed to support the needs of the whole family. Discussion: Implications for policy and practice are outlined.

Development and validation of a generic scale for use in transition programmes to measure self-management skills in adolescents with chronic health conditions: the TRANSITION-Q.

AIM: To develop a generic self-management skills scale for use with adolescents diagnosed with a chronic health condition who are aged 12 to 18 years. BACKGROUND: There is a lack of methodologically sound scales for healthcare teams to use to measure self-management skills in adolescents with chronic conditions transitioning to adult care. METHODS: Adolescents aged 12 to 18 years with a broad range of chronic health conditions, including neurodevelopmental conditions, were recruited from May to August 2013 from nine outpatient clinics at McMaster Children's Hospital (Canada). Thirty-two participated in a cognitive interview, and 337 completed a questionnaire booklet. Interviews were used to develop the TRANSITION-Q. Rasch measurement theory (RMT) analysis was used to identify items that represent the best indicators of self-management skills. Traditional psychometric tests of measurement performance were also conducted. RESULTS: The response rate was 92% (32/32 cognitive; 337/371 field test). RMT analysis resulted in a 14-item scale with three response options. The overall fit of the observed data to that expected by the Rasch model was non-significant, providing support that this new scale measured a unidimensional construct. Other tests supported the scale as scientifically sound, e.g. Person Separation Index = 0.82; good item fit statistics; no differential item function by age or gender; low residual correlations between items; Cronbach's alpha = 0.85; test-retest reliability = 0.90; and tests of construct validity that showed, as hypothesized, fewer skills in younger participants and in participants who required assistance to complete the scale. Finally, participants who agreed they are ready to transfer to adult healthcare reported higher TRANSITION-Q scores than did participants who disagreed. CONCLUSIONS: The TRANSITION-Q is a short, clinically meaningful and psychometrically sound scale. This generic scale can be used in research and in paediatric and adolescent clinics to help evaluate readiness for transition.

Systems of care: transition from the bio-psycho-social perspective of the International Classification of Functioning, Disability and Health.

BACKGROUND: The transition process of vulnerable adolescents, including those with complex health conditions, occurs in all domains of their life. Systems of care are usually designed but also restricted within certain aspects of life, as addressed by health, education and social welfare. The need for a co-ordinated approach to support the transition process has been voiced before, but usually publications focus on one system of care, usually the healthcare system or the education system. Recent moves, especially in the UK, are trying to integrate these different systems allowing for a more integrated transition process. This article illustrates how these developments are represented within the framework of the International Classification of Functioning, Disability and Health (ICF) and provides arguments that favour a greater integration of systems of care. METHODS: Examples of systems of care from North America and the EU (Germany and the UK) are described. They were selected from a literature search using the terms 'systems of care', 'transition' and 'transitional care' in different combinations. Further supportive information derives from personal experience working in some of these systems in different countries. The systems were analysed according to the components of health they address within the ICF. RESULTS: In order to assist adolescents in transition of services, there is a consensus that the approach should be individualized. The overall goal of any intervention or service should be to achieve optimal functioning of the patients. In the framework of the ICF, this means that biomedical and contextual (psychosocial) issues need to be taken into consideration. This requires an exchange of information between the different systems or the integration of those systems involved with the patient. CONCLUSION: To facilitate transition, it has been shown that close collaboration between agencies, a transdisciplinary approach of the professionals involved and the use of key workers are helpful.

Generalized epilepsy with febrile seizures plus: further heterogeneity in a large family.

BACKGROUND: Generalized epilepsy with febrile seizures plus (GEFS(+)) is a recently described benign childhood-onset epileptic syndrome with autosomal dominant inheritance. The most common phenotypes are febrile seizures (FS) often with accessory afebrile generalized tonic-clonic seizures (GTCS, FS(+)). In about one third, additional seizure types occur, such as absences, myoclonic, or atonic seizures. So far, three mutations within genes encoding subunits of neuronal voltage-gated Na(+) channels have been found in GEFS(+) families, one in SCN1B (beta(1)-subunit) and two in SCN1A (alpha-subunit). METHODS: The authors examined the phenotypic variability of GEFS(+) in a five-generation German family with 18 affected individuals. Genetic linkage analysis was performed to exclude candidate loci. RESULTS: Inheritance was autosomal dominant with a penetrance of about 80%. A variety of epilepsy phenotypes occurred predominantly during childhood. Only four individuals showed the FS or FS(+) phenotype. The others presented with different combinations of GTCS, tonic seizures, atonic seizures, and absences, only in part associated with fever. The age at onset was 2.8 +/- 1.3 years. Interictal EEG recordings showed rare, 1- to 2-second-long generalized, irregular spike-and-wave discharges of 2.5 to 5 Hz in eight cases and additional focal parietal discharges in one case. Linkage analysis excluded the previously described loci on chromosomes 2q21-33 and 19q13. All other chromosomal regions containing known genes encoding neuronal Na(+) channel subunits on chromosomes 3p21-24, 11q23, and 12q13 and described loci for febrile convulsions on chromosomes 5q14-15, 8q13-21, and 19p13.3 were also excluded. CONCLUSION: These results indicate further clinical and genetic heterogeneity in GEFS(+).

Video-based documentation and rating system of the motor behaviour of handicapped children treated with physiotherapy--a new outcome measure.

PURPOSE: Development of an instrument to measure modifications of motor quality in handicapped children receiving physiotherapy. METHODS: A video-based documentation method of motor behaviour in children from 0 to 3 years receiving physiotherapy was elaborated, consisting of a standardized set of scenes (script) and a rating procedure concerning different categories of motor behaviour such as coordination, stability and effort. RESULTS: The construction of the script and the rating system proved to be sensitive in documenting and evaluating the motor behaviour of handicapped children receiving physiotherapy. A good inter-rater reliability of 0.85 was obtained. The chosen rating categories represent two independent factors: One relating more to the motor functions (motor component) and the other relating to the psycho-social aspects of movement (interactive component). CONCLUSION: The instrument allows to evaluate the quality aspects of movement. They can be observed in motor behaviour regardless of which function is being executed and may develop in a different pace and at different stages of therapy than specific motor functions such as turning, sitting or walking. The instrument is intended to complement a standard neurological examination and the application of motor function tests, especially, to evaluate therapeutic outcomes.