Meaningful outcomes for children and their caregivers attending a paediatric brain centre.

AIM: To identify meaningful outcomes of children and their caregivers attending a paediatric brain centre. METHOD: We compiled a long list of outcomes of health and functioning of children with brain-related disorders such as cerebral palsy, spina bifida, (genetic) neurodevelopmental disorders, and acquired brain injury. We incorporated three perspectives: patients, health care professionals, and published outcome sets. An aggregated list was categorized using the International Classification of Functioning, Disability, and Health: Children and Youth version in a patient validation survey for children and parent-caregivers to prioritize outcomes. Outcomes were considered meaningful when ranked 'very important' by 70% or more of the participants. RESULTS: We identified 104 outcomes from the three perspectives. After categorizing, 59 outcomes were included in the survey. Thirty-three surveys were completed by children (n = 4), caregivers (n = 24), and parent-caregivers together with their child (n = 5). Respondents prioritized 27 meaningful outcomes covering various aspects of health and functioning: emotional well-being, quality of life, mental and sensory functions, pain, physical health, and activities (communication, mobility, self-care, interpersonal relationships). Parent-caregiver concerns and environmental factors were newly identified outcomes. INTERPRETATION: Children and parent-caregivers identified meaningful outcomes covering various aspects of health and functioning, including caregiver concerns and environmental factors. We propose including those in future outcome sets for children with neurodisability. WHAT THIS PAPER ADDS: Outcomes that children with brain-related disorders and their parent-caregivers consider to be the most meaningful cover a wide range of aspects of functioning. Involving these children and their parent-caregivers resulted in the identification of important outcomes that were not covered by professionals and the literature. Parent-caregiver-related factors (coping, burden of care) and environmental factors (support, attitudes, and [health care] services) were identified as meaningful.

Quantification of the development of trunk control in healthy infants using inertial measurement units.

Trunk motor control is essential for the proper functioning of the upper extremities and is an important predictor of gait capacity in children with delayed development. Early diagnosis and intervention could increase the trunk motor capabilities in later life, but current tools used to assess the level of trunk motor control are largely subjective and many lack the sensitivity to accurately monitor development and the effects of therapy. Inertial measurement units could yield an objective quantitative assessment that is inexpensive and easy-to-implement. We hypothesized that root mean square of jerk, a proxy for movement smoothness, could be used to distinguish age and thereby presumed motor development. We attached a sensor to the trunks of six young children with no known developmental deficits. Root mean square of jerk decreases with age, up to 24 months, and is correlated to a more established method, i.e., center-of-pressure velocity, as well as other standard inertial measurement unit outputs. This metric therefore shows potential as a method to differentiate trunk motor control levels.

Factors for changes in self-care and mobility capabilities in young children with cerebral palsy involved in regular outpatient rehabilitation care.

BACKGROUND: Assessing prognosis of self-care and mobility capabilities in children with cerebral palsy (CP) is important for goal setting, treatment guidance and meaningful professional-caregiver conversations. AIMS: Identifying factors associated with changes in self-care and mobility capabilities in regular outpatient multidisciplinary paediatric CP rehabilitation care. METHODS AND PROCEDURES: Routinely monitored longitudinal data, assessed with the Paediatric Evaluation of Disability Inventory (PEDI-Functional-Skills-Scale, FSS 0-100) was retrospectively analysed. We determined contributions of age, gross-motor function, bimanual-arm function, intellectual function, education type, epilepsy, visual function, and psychiatric comorbidity to self-care and mobility capability changes (linear-mixed-models). OUTCOMES AND RESULTS: For 90 children (53 boys), in all Gross-Motor-Function-Classification-System (GMFCS) levels, 272 PEDI's were completed. Mean PEDI-FSS-scores at first measurement (median age: 3,2 years) for self-care and mobility were 46.3 and 42.4, and mean final FSS-scores respectively were 55.1 and 53.1 (median age: 6,5 years). Self-care capability change was significantly associated with age (2.81, p < 0.001), GMFCS levels III-V (-9.12 to -46.66, p < 0.01), and intellectual impairment (-6.39, p < 0.01). Mobility capability change was significantly associated with age (3.25, p < 0.001) and GMFCS levels II-V (-6.58 to -47.12, p < 0.01). CONCLUSIONS AND IMPLICATIONS: Most important prognostic factor for self-care and mobility capabilities is GMFCS level, plus intellectual impairment for self-care. Maximum capability levels are reached at different ages, which is important for individual goal setting and managing expectations.

Longitudinal two years evaluation of neuropsychological outcome in children after out of hospital cardiac arrest.

AIM: To investigate longitudinal functional and neuropsychological outcomes 3-6 and 24 months after paediatric out-of-hospital cardiac arrest (OHCA). Further, to explore the association between paediatric cerebral performance category (PCPC) and intelligence. METHODS: Prospective longitudinal single center study including children (0-17 years) with OHCA, admitted to the PICU of a tertiary care hospital between 2012 and 2017. Survivors were assessed during an outpatient multidisciplinary follow-up program 3-6 and 24 months post-OHCA. Functional and neuropsychological outcomes were assessed through interviews, neurological exam, and validated neuropsychological testing. RESULTS: The total eligible cohort consisted of 49 paediatric OHCA survivors. The most common cause of OHCA was arrhythmia (33%). Median age at time of OHCA was 48 months, 67% were males. At 3-6 and 24 months post-OHCA, respectively 74 and 73% had a good PCPC score, defined as 1-2. Compared with normative data, OHCA children obtained worse sustained attention and processing speed scores 3-6 (n = 26) and 24 (n = 27) months post-OHCA. At 24 months, they also obtained worse intelligence, selective attention and cognitive flexibility scores. In children tested at both time-points (n = 19), no significant changes in neuropsychological outcomes were found over time. Intelligence scores did not correlate with PCPC. CONCLUSION: Although paediatric OHCA survivors had a good PCPC score 3-6 and 24 months post-OHCA, they obtained worse scores on important neuropsychological domains such as intelligence and executive functioning (attention and cognitive flexibility). Follow-up should continue over a longer life span in order to fully understand the long-term impact of OHCA in childhood.

Cognitive linguistic Treatment in Landau Kleffner Syndrome: Improvement in Daily Life Communication.

We report a case study of cognitive linguistic treatment in a teenager with chronic severe Landau Kleffner Syndrome. The effect of speech and language therapy in LKS is rarely examined and our case is unique in that we use an effective approach in adult aphasia to treat language deficits in aphasia in LKS. The results show successful acquisition of a considerable amount of new words as well as improved communication in daily life. However, auditory verbal agnosia, the most prominent feature in LKS, persisted. Cognitive linguistic treatment seems a promising treatment to improve spoken language production in LKS, but more research is needed to optimize speech and language therapy of auditory verbal agnosia and auditory language comprehension in children with LKS.

The role of botulinum toxin in multimodal treatment of spasticity in ambulatory children with spastic Cerebral Palsy: extensive evaluation of a cost-effectiveness trial.

BACKGROUND: A cost-effectiveness trial (the Space Bop study) on the added value of botulinum toxin injections (BoNT-A) in the leg muscles, as part of a multimodal intervention for ambulatory children with spastic cerebral palsy in the context of a single distinct cycle of care was performed recently by our group. For a broad set of effect outcomes, we found that BoNT-A had no added value if children received comprehensive rehabilitation. However, this counterintuitive finding was met with scepticism. OBJECTIVE: Since several noteworthy facts and experiences were recorded during the course of the trial and the dissemination phase, the aim of this paper was to describe and discuss some crucial aspects of, and barriers to, the Space Bop study, related to context and perspective, design and results, as well as publication and implementation. METHODS: This paper discusses 5 issues: (i) the design, interpretation and presentation of previous research; (ii) the role of one's own clinical experience and interpretation; (iii) the aims of (BoNT-A) treatment; (iv) conflict of interest, role of industry, and the role of history; (v) optimal treatment modalities and dose-response relationships. CONCLUSION: Despite the unambiguous findings from the Space Bop study, several factors hindered acceptance of the results. Awareness of these factors is important when performing rehabilitation research and disseminating and implementing research findings.

Relationship between changes in motor capacity and objectively measured motor performance in ambulatory children with spastic cerebral palsy.

BACKGROUND: Different interventions are offered to children with cerebral palsy (CP) to improve the activity domain of the international classification of functioning (ICF). In therapy settings, the focus is mostly on motor capacity, but the ultimate goal is to improve motor performance. We therefore examined if changes in motor capacity outcomes are accompanied by changes in objectively measured motor performance after a 3-month intensive treatment period in ambulatory children with CP. METHODS: A secondary analysis on prospective clinical trial data was performed using multivariate linear regression. Sixty-five children (37 boys and 28 girls) with spastic CP, mean age 7 years and 3 months, Gross Motor Function Classification System (GMFCS) levels I-III were involved in a distinct 3-month intensive treatment period. Motor capacity (Gross Motor Function Measure [GMFM], functional muscle strength [FMS], and walking speed [WS]) and motor performance (using three Actigraph-GT3X+-derived outcome measures) were measured at baseline, 12 and 24 weeks. RESULTS: No significant associations were found for any of the change scores (∆12 ) between motor capacity and motor performance after a 12-week intensive treatment period. After 24 weeks, ∆24 FMS (p = .042) and ∆24 WS (p = .036) were significantly associated with changes in motor performance outcome measure percentage of time spent sedentary (∆24 %sedentary). In this model, 16% of variance of ∆24 %sedentary was explained by changes in motor capacity (p = .030). CONCLUSIONS: Changes in motor capacity are mostly not accompanied by changes in objectively measured motor performance after an intensive treatment period for ambulatory children with CP. These findings should be taken into account during goal setting and are important to manage expectations of both short- and longer term effects of treatment programmes.

Care for children with severe chronic skin diseases.

In this study, the care for children with a severe chronic skin disease in our national expert center of pediatric dermatology was evaluated. Patients and their parents were questioned by using existing questionnaires: 50 pediatric patients completed the modified "my positive health" questionnaire of Huber and 51 parents completed Pelentsov parental needs scale. Nineteen involved professionals answered a questionnaire with open boxes. Parents of children with a variety of chronic skin diseases and young adult patients were interviewed to find out what an optimal approach would look like according to them. Children with a severe chronic and/or congenital skin disorder score high on the "my positive health" questionnaire, indicating they are able to adapt and self-manage. Their highest median score was measured for the dimension "quality of life." Their parents expect improvement of "working with health care professionals," more specifically they want them to adopt a more holistic approach throughout the patient's life. Structured interviews showed they expect that a multidisciplinary team of care providers determine together with the patient and its family-in advance-which care is needed, at what time and by whom. The interviewed professionals indicated adoption of a holistic multidisciplinary approach as the single largest improvement to achieve better care.Conclusion: Although these children with a severe chronic and/or congenital skin disease were able to adapt and self-manage, they need a more personalized integrative multidisciplinary and systematic transmural approach covering all aspects of life during their lifetime. What is Known: • Severe skin disorders affect the child and its family in several ways. In our expert center, we try to optimize the care for these children through a multidisciplinary approach. What is New: • To our knowledge, no English publication describes the requirements for good care for pediatric patients with severe chronic skin disorders and how to optimize this care. We evaluated the health status of children with severe chronic skin disorders and the strengths and weaknesses of past and current care by questioning these children, their parents, adult patients, and involved professionals.

Intramuscular botulinum toxin prior to comprehensive rehabilitation has no added value for improving motor impairments, gait kinematics and goal attainment in walking children with spastic cerebral palsy.

OBJECTIVE: Botulinum toxin (BoNT-A) is widely used in combined treatment for spastic cerebral palsy, but its added value preceding comprehensive rehabilitation for motor impairments, gait, and goal attainment has not been studied. DESIGN: A comparative multi-centre trial, in which two groups underwent comprehensive rehabilitation (i.e. high-intensive functional physiotherapy, and indicated casting/orthoses). One group received intramuscular BoNT-A prior to rehabilitation, and the other group did not receive BoNT-A. SUBJECTS/PATIENTS: Children with spastic cerebral palsy, Gross Motor Function Classification System (GMFCS) levels I-III, age range 4-12 years, indicated for BoNT-A treatment regarding mobility problems. METHODS: Sixty-five children participated (37 boys), mean age 7.3 years (standard deviation (SD) 2.3, range 4-12 years), equally distributed across GMFCS levels. Forty-one children received BoNT-A+ comprehensive rehabilitation and 24 received comprehensive rehabilitation only. Functional leg muscle strength, passive range of motion, angle of catch, cerebral palsy-related pain, walking speed, kinematic gait parameters, goal attainment, and proxy-reported general functioning were assessed at baseline, primary end-point (12 weeks) and 24-week follow-up. Statistical analyses were performed with linear mixed models. RESULTS: At the primary end-point there were no statistically significant differences in treatment effects between the groups, except for the angle-of-catch of the rectus femoris, which was in favour of comprehensive rehabilitation without BoNT-A (12° difference, 95% confidence interval (95% CI) 2:23, p = 0.025). Results at follow-up were similar. CONCLUSION: At the group level, treating with BoNT-A prior to comprehensive rehabilitation did not add to the clinical effectiveness of rehabilitation. Thus, BoNT-A prescription and use should be critically reconsidered in this cerebral palsy age- and GMFCS-subgroup.

Value of botulinum toxin injections preceding a comprehensive rehabilitation period for children with spastic cerebral palsy: A cost-effectiveness study.

OBJECTIVE: Despite the widespread use of botulinum toxin in ambulatory children with spastic cerebral palsy, its value prior to intensive physiotherapy with adjunctive casting/orthoses remains unclear. DESIGN: A pragmatically designed, multi-centre trial, comparing the effectiveness of botulinum toxin + intensive physiotherapy with intensive physiotherapy alone, including economic evaluation. SUBJECTS/PATIENTS: Children with spastic cerebral palsy, age range 4-12 years, cerebral palsy-severity Gross Motor Function Classification System levels I-III, received either botulinum toxin type A + intensive physiotherapy or intensive physiotherapy alone and, if necessary, ankle-foot orthoses and/or casting. METHODS: Primary outcomes were gross motor func-tion, physical activity levels, and health-related quality-of-life, assessed at baseline, 12 (primary end-point) and 24 weeks (follow-up). Economic outcomes included healthcare and patient costs. Intention-to-treat analyses were performed with linear mixed models. RESULTS: There were 65 participants (37 males), with a mean age of 7.3 years (standard deviation 2.3 years), equally distributed across Gross Motor Function Classification System levels. Forty-one children received botulinum toxin type A plus intensive physio-therapy and 24 received intensive physiotherapy treatment only. At primary end-point, one statistically significant difference was found in favour of intensive physiotherapy alone: objectively measured percentage of sedentary behaviour (-3.42, 95% confidence interval 0.20-6.64, p=0.038). Treatment costs were significantly higher for botulinum toxin type A plus intensive physiotherapy (8,963 vs 6,182 euro, p=0.001). No statistically significant differences were found between groups at follow-up. CONCLUSION: The addition of botulinum toxin type A to intensive physiotherapy did not improve the effectiveness of rehabilitation for ambulatory children with spastic cerebral palsy and was also not cost-effective. Thus botulinum toxin is not recommended for use in improving gross motor function, activity levels or health-related quality-of-life in this cerebral palsy age- and severity-subgroup.

Prevalence of fatigue, pain, and affective disorders in adults with duchenne muscular dystrophy and their associations with quality of life.

OBJECTIVES: To assess the prevalence of fatigue, pain, anxiety, and depression in adults with Duchenne muscular dystrophy (DMD), and to analyze their relationship with health-related quality of life. DESIGN: Cross-sectional study. SETTING: Home of participants. PARTICIPANTS: Adults (N=80) with DMD. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Fatigue was assessed with the Fatigue Severity Scale; pain with 1 item of the Medical Outcomes Study 36-Item Short-Form Health Survey and by interview; and anxiety and depression by using the Hospital Anxiety and Depression Scale. Health-related quality of life was assessed using the World Health Organization Quality of Life Scale-Brief Version. Associations between these conditions and quality of life were assessed by means of univariate and multivariate logistic regression analyses. RESULTS: Symptoms of fatigue (40.5%), pain (73.4%), anxiety (24%), and depression (19%) were frequently found. Individuals often had multiple conditions. Fatigue was related to overall quality of life and to the quality-of-life domains of physical health and environment; anxiety was related to the psychological domain. CONCLUSIONS: Fatigue, pain, anxiety, and depression, potentially treatable symptoms, occur frequently in adults with DMD and significantly influence health-related quality of life.

Quality of life of adult men with Duchenne muscular dystrophy in the Netherlands: implications for care.

OBJECTIVE: To assess quality of life of adults with Duchenne muscular dystrophy in the Netherlands and to identify domains and major problems influencing quality of life. DESIGN: Cross-sectional. SUBJECTS: Seventy-nine men aged ≥ 20 years with Duchenne muscular dystrophy. METHODS: The Medical Outcome Study Short Form-36 (SF-36), World Health Organization Quality of Life - BREF (WHOQOL-BREF) and an interview were used to assess quality of life and problems. RESULTS: Compared with Dutch general population reference values, the SF-36 domains scores were lower on all domains except mental health and role limitations due to emotional problems. On the WHOQOL-BREF the social relationships domain score was lower. Main problems were intimate relationships, work, leisure, transport and meaningfulness of life. Seventy-three percent stated overall quality of life as "(very) good". The SF-36 domains mental health (rs 0.53, p < 0.001) and vitality (rs 0.49, p < 0.001) had the strongest associations with overall quality of life. CONCLUSION: Adult men with Duchenne muscular dystrophy assess their health status as low in the physical, but not in the mental, domains. Experienced problems are mainly in the area of participation. They are generally satisfied with their overall quality of life.

Subjective caregiver burden of parents of adults with Duchenne muscular dystrophy.

PURPOSE: To describe subjective caregiver burden of parents of adults with Duchenne muscular dystrophy (DMD) and to identify factors associated with the level of subjective burden. METHODS: In a cross-sectional study in 80 parents of 57 adult, severely disabled DMD patients' level of subjective caregiver burden was measured with the Caregiver Strain Index (CSI) and the Self Rated Burden Scale. A visual analogue scale was used to measure happiness. The expanded CSI version, the CarerQoL and open questions were used to analyse caregiving in more depth. In uni and multivariate analyses, associations of objective care characteristics, patient characteristics and caregiver characteristics with burden were explored. RESULTS: Parents indicated substantial burden, but valued giving care as being important and rewarding. Subjective burden was associated with received support, tracheotomy, active coping by the patient and anxiety in patient and parents, together explaining 34%-36% of variance. Living situation was not associated with experienced burden. CONCLUSIONS: Caring for an adult son with DMD is burdensome, but rewarding. Subjective caregiver burden of parents may be alleviated by adequate support and respite care, by avoiding tracheotomy and by intervention programs targeting anxiety and promoting active coping by the patient from childhood.

Upper limb function in adults with Duchenne muscular dystrophy.

OBJECTIVE: To determine upper limb function and associated factors in adults with Duchenne muscular dystrophy. DESIGN: Cross-sectional study. SUBJECTS: A sample of 70 men with Duchenne muscular dystrophy (age range 20-43 years). METHODS: General motor function and, in particular, upper limb distal motor function, were assessed with the Motor Function Measure. Muscle strength and range of motion of the upper limb were evaluated using hand-held dynamo-metry, manual muscle-testing and goniometry. Associations were studied using Spearman's correlation coefficients and multiple linear regression analysis. RESULTS: General motor function was severely impaired. Wide variability was found in distal motor function, muscle strength and range of motion of the upper limb, especially in early adulthood. Muscle strength and range of motion explained 76% of the variance in upper limb distal motor function. CONCLUSION: This study illustrates a large variability in upper limb function in adult patients with Duchenne muscular dystrophy, and identifies muscle strength and range of motion as factors strongly associated with upper limb function. These results suggest that preserving muscle strength and range of motion in Duchenne patients might be relevant for a better outcome of distal motor function of the upper limb when adult.