Anna McCormick

Feasibility, motivation, and selective motor control: virtual reality compared to conventional home exercise in children with cerebral palsy.

Children with cerebral palsy (CP) have difficulty controlling and coordinating voluntary muscle, which results in poor selective control of muscle activity. Children with spastic CP completed ankle selective motor control exercises using a virtual reality (VR) exercise system and conventional (Conv) exercises. Ankle movements were recorded with an electrogoniometer. Children and their parents were asked to comment on their interest in the exercise programs. Greater fun and enjoyment were expressed during the VR exercises. Children completed more repetitions of the Conv exercises, but the range of motion and hold time in the stretched position were greater during VR exercises. These data suggest that using VR to elicit or guide exercise may improve exercise compliance and enhance exercise effectiveness.

Stability of the Gross Motor Function Classification System in adults with cerebral palsy

To determine the stability of Gross Motor Function Classification System (GMFCS) levels between approximately 12 years of age and adulthood (i.e. > 16y) using a matched chart review. Adult health records from the Ottawa Rehabilitation Centre were matched with childhood health records from the Ottawa Childrens Treatment Centre (OCTC). Health records were available for 103 adults (52 males, 51 females) with cerebral palsy (CP; age range 17–38y; mean age 22y [SD 4y]) who had also been seen at the OCTC at a mean age of 12 years (SD 1y). GMFCS levels as adults were: Level I, n= 10; Level II, n= 24; Level III, n= 21; Level IV, n= 30; and Level V, n= 18. Adult participants were classified using the GMFCS at the time they were last seen by a rehabilitation specialist, sometime between June 2002 and June 2005. Corresponding paediatric charts were reviewed and classified by two independent raters blinded to the adult GMFCS levels. GMFCS levels around age 12 were: Level I, n= 20; Level II, n= 13; Level III, n= 22; Level IV, n= 35; and Level V, n= 13. Interrater reliability for childhood health records was determined with a quadratic weighted kappa and was 0.978. Stability of GMFCS levels was also assessed using the quadratic weighted kappa and was 0.895. The positive predictive value of the GMFCS at 12 years of age to predict walking without mobility aids by adulthood is 0.88. If the child is a wheelchair user at around age 12 years, the positive predictive value is 0.96 that the individual will still be a wheelchair user as an adult. This study supports previous findings that interrater reliability when using the GMFCS is very high. It also shows that the GMFCS level observed around the age of 12 years is highly predictive of adult motor function. This provides important information for individuals with CP, their families, and care providers as they plan for future care needs and rehabilitation intervention.

The Internet is valid and reliable for child-report: an example using the Activities Scale for Kids (ASK) and the Pediatric Quality of Life Inventory (PedsQL).

OBJECTIVE This study tested the impact of web administration on well-established measures of childrens physical function and quality of life. STUDY DESIGN AND SETTING Participants were recruited from clinics at six hospitals. They completed the Activities Scale for Kids (ASK) and the Pediatric Quality of Life Inventory (PedsQL) questionnaires twice, in a crossover design that used paper and web-based modes of administration. Intraclass correlation coefficients were used to assess the validity of the new web formats relative to the original paper formats and their test-retest reliability. RESULTS Sixty-nine children ranging in age from 8.0 to 13.4 years (mean=11.0 years) completed the study. The sample included children with cerebral palsy (19), spina bifida (23), and cystic fibrosis (27). The mean ASK score was 77.5 and the mean PedsQL score was 69.1. The intermethod intraclass correlation coefficients were 0.98 (lower limit 0.94) for the ASK and 0.64 (lower limit 0.35) for the PedsQL. These compare to intraclass correlation coefficients of 0.99 and 0.94, respectively, for traditional paper formats. CONCLUSION The web ASK was valid in comparison to the original paper format. Consistency in mode of administration may be more important when using the PedsQL. Both measures were highly reliable on paper and on the web.

Reasons for hospital admissions among youth and young adults with cerebral palsy.

OBJECTIVE To identify the most common reasons for acute care hospital admissions among youth (age range, 13-17.9y) and young adults (age range, 23-32.9y) with cerebral palsy (CP). DESIGN We completed a secondary analysis of data from the Canadian Institute for Health Information (CIHI) to determine the most frequently observed reasons for admissions and the associated lengths of stay (LOS). SETTING Participants were identified from 6 childrens treatment centers in Ontario, Canada. PARTICIPANTS Health records data from youth with CP (n=587) and young adults with CP (n=477) contributed to this study. INTERVENTIONS Not applicable. MAIN OUTCOME MEASURES The most common reasons for hospital admission, relative frequencies of admissions for each reason, and mean LOS were reported. RESULTS The analysis of CIHI records identified epilepsy and pneumonia as the top 2 reasons for admissions in both age groups. Both age groups were commonly admitted because of infections other than pneumonia and urinary tract infections (UTIs), gastrointestinal (GI) problems such as malabsorption, and mental illness. The reasons that were unique to youth included orthopedic and joint-related issues, other respiratory problems, and scoliosis. In young adults, mental illness was the third most common reason for admission, followed by lower GI or constipation problems, malnutrition or dehydration, upper GI problems, fractures, and UTIs. CONCLUSIONS This article provides important clinical information that can be used in the training of physicians and health care providers, and to guide future planning of ambulatory care services to support the clinical management of persons with CP over their lifespan.

The Health and Quality of Life Outcomes Among Youth and Young Adults With Cerebral Palsy

UNLABELLED Young NL, Rochon TG, McCormick A, Law M, Wedge JH, Fehlings D. The health and quality of life outcomes among youth and young adults with cerebral palsy. OBJECTIVES To describe the health and quality of life (QoL) of youth and young adults who have cerebral palsy (CP), and to assess the impact of 3 key factors (severity, age, and sex) on these outcomes. DESIGN Cross-sectional survey. SETTING Participants were identified from 6 childrens treatment centers in Ontario. PARTICIPANTS The sample of participants (N=199) included youth (n=129; age, 13-17y) and adults (n=70; age, 23-33y) with a broad range of severity: 35% mild, 19% moderate, and 47% severe. INTERVENTION Not applicable. MAIN OUTCOME MEASURES Health Utilities Index (HUI(3)), Assessment of Quality of Life (AQoL), and Self-Rated Health (SRH). RESULTS SRH was reported to be excellent or very good by 57% of youth and 46% of adults. Mean HUI(3) scores were .30 for youth and .31 for adults. Mean AQoL scores were .28 for youth and adults. Severity of CP in childhood predicted 55% of the variance in HUI(3) scores and 45% of the variance in AQoL scores. Age and sex were not significant predictors of health or QoL. CONCLUSIONS The observed health and QoL scores were much lower than those previously reported in the literature. This is likely a result of the inclusion of those with severe CP. The scores for youth were similar to those for adults and suggest that health and QoL outcomes were relatively stable across the transition to adulthood. Youth and adults with CP have limited health status and will require health care support throughout their lives to help them optimize their well being. Longitudinal follow-up studies are essential to understand better the patterns of health in this population over time.

A population-based study of dystrophin mutations in Canada.

INTRODUCTION We carried out a population-based study of dystrophin mutations in patients followed by members of the Canadian Paediatric Neuromuscular Group (CPNG) over a ten-year period. OBJECTIVES We aimed to describe the changes in diagnostic testing for dystrophinopathy and to determine the frequency of dystrophin mutations from 2000 to 2009. METHODS De-identified data containing the clinical phenotypes, diagnostic methods, and mutational reports from dystrophinopathy patients followed by CPNG centres from January 2000 to December 2009 were analyzed using descriptive statistics. RESULTS 773 patients had a confirmed diagnosis of dystrophinopathy based on genetic testing (97%), muscle biopsy (2%), or family history (1%). 573 (74%) had complete deletion/duplication analysis of all 79 exons or whole gene sequencing, resulting in 366 (64%) deletions, 64 (11%) duplications, and 143 (25%) point mutations. The percentage of patients who were diagnosed using currently accepted genetic testing methods varied across Canada, with a mean of 63% (SD 23). 246 (43%) mutations involved exons 45 to 53. The top ten deletions (n=147, 26%) were exons 45-47, 45-48, 45, 45-50, 45-55, 51, 45-49, 45-52, 49-50, and 46-47. 169 (29%) mutations involved exons 2 to 20. The most common duplications (n=29, 5.1%) were exons 2, 2-7, 2-17, 3-7, 8-11, 10, 10-11, and 12. CONCLUSION This is the most comprehensive report of dystrophin mutations in Canada. Consensus guidelines regarding the diagnostic approach to dystrophinopathy will hopefully reduce the geographical variation in mutation detection rates in the coming decade.

Health Outcomes among Youths and Adults with Spina Bifida

OBJECTIVE To describe the health and health-related quality of life (HR-QoL) outcomes of youths and young adults with spina bifida. STUDY DESIGN One global rating of self-rated health and 2 generic measures of HR-QoL were administered to a group of youths and young adults with spina bifida. HR-QoL was measured using the Health Utilities Index Mark 3 (HUI3) and the Assessment of Quality of Life version 1 (AQoL). RESULTS Data was obtained from 40 youth (mean age 16.0 years) and 13 young adults (mean age 26.6 years). Most youth rated their overall health as either excellent or very good (65%) compared with fewer adults (23%) (P = .007). The mean HR-QoL scores for youths versus adults were 0.57 versus 0.36 (P = .03) for the HUI(3) and 0.37 versus 0.25 for the AQoL (P = .09). HUI(3) and AQoL scores were correlated with level of anatomic lesion (rho = 0.64 and rho = 0.42, respectively). CONCLUSIONS The HR-QoL of youths and young adults with spina bifida was low on measures that are aggregated using societal values (the HUI3 and AQoL). This is in contrast to their single global self-ratings of health, which were more favorable. These findings underscore the distinction between ratings of HR-QoL based on societal values versus the personal lived experiences of adults with childhood-onset disability.

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0.1% frequency) that might be relevant to CP. We also sequenced exomes of “CNV-positive” trios.ResultsWe detected de novo CNVs and/or sex chromosome abnormalities in 7/97 (7.2%) of probands, impacting important developmental genes such as GRIK2, LAMA1, DMD, PTPRM, and DIP2C. In 18/97 individuals (18.6%), rare inherited CNVs were found, affecting loci associated with known genomic disorders (17p12, 22q11.21) or involving genes linked to neurodevelopmental disorders.ConclusionWe found an increased rate of de novo CNVs in the hemiplegic CP subtype (7.2%) compared to controls (1%). This result is similar to that for an unselected CP group. Combined with rare inherited CNVs, the genomic data impacts the understanding of the potential etiology of hemiplegic CP in 23/97 (23.7%) of participants.

Stability of the Gross Motor Function Classification System after single-event multilevel surgery in cerebral palsy.

The paper of Kerstjens et al. reports the exponential relation between decreasing gestational age and developmental delay in a variety of domains. The odds of developmental delay increase by 10% to 14% for each week of gestation, not only in children born very preterm but also in those born moderately preterm. In an era where the number of meta-analyses exceeds the number of original studies, raw data are more than welcome. For a long time, attention was focused on severe impairments in children born very preterm. Those born moderately preterm do relatively well and are largely unattended by longterm follow-up programs. The studies that pay more attention to children born moderately preterm show a multitude of mild problems. Singularly, these problems are subtle, but combined and without compensation in other domains they become a burden for the individual child and his or her parents. Because of the large numbers of these children, they also may become a burden for society. Why does developmental delay increase as gestational age decreases? Adverse outcome after preterm birth may be related to biological and social factors before and during pregnancy, neuronal injury acquired during perinatal intensive care, or an adverse socio-economic environment. The continuous, exponential relation found by Kerstjens et al. does not mean that these factors act only quantitatively differently at various gestational ages. The differences may be also qualitative. Perinatally acquired neuronal injury in children born very preterm is an everyday experience of neonatologists. About 50% of the children born before 29 weeks of gestation are involved in a two-step injury, for which Volpe coined the term ‘encephalopathy of prematurity’. Hypoxic-ischemic injury causes not only neuronal damage, but also oligodendroglial cell death. The last injury results in secondary damage of the developing and migrating neurons. The outcome depends on the stage of brain development at the moment of injury. Comparable mechanisms may be responsible for the lowseverity impairments in children born moderately preterm. An adverse intrauterine or socio-economic environment will have a deleterious effect during the whole pregnancy and far thereafter, but its additive role in the child born very preterm is only partially known. Outcome is a result of injury and repair. Many times we are struck by the resilience of children born preterm, but the mechanisms of repair are hardly understood. Favourable epigenetics and an ameliorative socio-economic environment may play roles that have to be clarified. Many questions remain, but future studies should follow the lines set by Kerstjens et al.: inclusion of the full range of gestational ages, analysis of multiple domains, and separate adjustments for biological and socio-economic covariates.

The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities

Introduction Patient registries serve an important role in rare disease research, particularly for the recruitment and planning of clinical trials. The Canadian Neuromuscular Disease Registry was established with the primary objective of improving the future for neuromuscular (NM) patients through the enablement and support of research into potential treatments. Methods In this report, we discuss design and utilization of the Canadian Neuromuscular Disease Registry with special reference to the paediatric cohort currently enrolled in the registry. Results As of July 25, 2017, there are 658 paediatric participants enrolled in the registry, 249 are dystrophinopathies (229 are Duchenne muscular dystrophy), 57 are myotonic dystrophy participants, 98 spinal muscular atrophy participants and 65 are limb girdle muscular dystrophy. A total of 175 patients have another NM diagnosis. The registry has facilitated 20 clinical trial inquiries, 5 mail-out survey studies and 5 other studies in the paediatric population. Discussion The strengths of the registry are discussed. The registry has proven to be an invaluable tool to NM disease research and has increased Canadas visibility as a competitive location for the conduct of clinical trials for NM therapies.