Twice weekly outpatient rehabilitation intervention for young children with Spinal Muscular Atrophy treated with genetic based therapies: A feasibility study (Preprint)
UNSTRUCTURED Background: Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder th... more UNSTRUCTURED Background: Spinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder that causes muscle weakness and is a leading genetic cause for infant mortality worldwide. While no definitive cure exists, the approval of three genetic based therapies since 2018 in Canada has lead to significant improvements in muscle function for children with SMA. With that, there are no evidence-based rehabilitation interventions and minimal evidence on the combined effects of genetic based therapies and rehabilitation. The objective of the study is to assess the feasibility of a twice-weekly outpatient rehabilitation intervention focusing on gross and fine motor function to inform the methodology and sample size of a definitive clinical trial. Methods: The study is a single centre, non-randomized pilot and feasibility trial to explore an outpatient rehabilitation intervention for children 6 months to 3 years old with SMA treated with genetic based therapies. Participation in the stu...
Understanding the experiences of lung volume recruitment among boys with Duchenne muscular dystrophy: A multicenter qualitative study
Pediatric Pulmonology
‘Our time is precious’: An exploration of parental feeding behaviours for boys with Duchenne muscular dystrophy
Supplemental Material, Lindsay_Appendix_A_FINAL_to_production for Meaningful occupations of young... more Supplemental Material, Lindsay_Appendix_A_FINAL_to_production for Meaningful occupations of young adults with muscular dystrophy and other neuromuscular disorders by Sally Lindsay, Elaine Cagliostro and Laura McAdam in Canadian Journal of Occupational Therapy
International Journal of Qualitative Methods, 2020
Storytelling is perennial to the human condition. We all tell stories and we all bear witness to ... more Storytelling is perennial to the human condition. We all tell stories and we all bear witness to the stories of others. According to narrative scholars, only certain stories are valorized in contemporary culture, while others go unrecognized. The inability to recognize ourselves and identities in contemporary cultural narratives can contribute to the silencing and muting of certain lives and voices. Young people with life-shortening conditions, such as cystic fibrosis (CF) and muscular dystrophy (MD), are rarely afforded the opportunity to have their stories heard and affirmed in contemporary cultural spaces. In this article, we reflect on the methodological process of engaging in a study known as “Telling My Tale,” that is, a storybook study featuring narratives and artwork by young people with CF and MD. Funded by the Social Sciences and Humanities Research Council of Canada, we critically reflect upon the methodological lessons, advances, and innovations we have learned, includin...
Vertebral fractures are more prevalent than long bone fractures in boys with glucocorticoid-treated Duchenne Muscular Dystrophy: Results of a prospective observational study
Vitamin D supplementation is important for many chronic pediatric conditions to help maintain bon... more Vitamin D supplementation is important for many chronic pediatric conditions to help maintain bone health; however, there is little evidence about how disease-related factors affect vitamin D status. The objective was to compare 25-hydroxyvitamin D (25(OH)D) concentrations in 3 pediatric cohorts (Duchenne muscular dystrophy [DMD], systemic lupus erythematosus [SLE], and osteogenesis imperfecta [OI]). In a retrospective study of 367 subjects, children with DMD had increased prevalence of vitamin D insufficiency (25% vs 14% [SLE] and 10% [OI], P = .002), despite higher vitamin D3 supplementation doses. Boys with DMD also had higher weight, fat mass, and lower lean mass percentage Z scores. DMD was associated with having higher rates of vitamin D insufficiency than other comparable pediatric chronic disease cohorts, the effect of which may be modulated by clinical factors such as increased adiposity. While corroboration of these results is needed given baseline differences between the ...
Developmental medicine and child neurology, Jan 29, 2018
To develop a patient-reported outcome measure that comprehensively captures the health-related pr... more To develop a patient-reported outcome measure that comprehensively captures the health-related priorities of children with Duchenne muscular dystrophy (DMD). Children with DMD and their parents completed the iteratively revised versions of the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD), followed by a cognitive interview to develop a pilot version of a new measure. Multidisciplinary health care professionals completed an item-by-item analysis of the measure and a 14-item sensibility questionnaire. Minimum content validity ratio for each item of the new measure and the mean score (0-7) for the items of the sensibility questionnaire were calculated. The CPCHILD underwent changes over 19 interviews with children and their parents, resulting in the pilot Muscular Dystrophy Child Health Index of Life with Disabilities (MDCHILD). The content validity ratio of each MDCHILD item ranged from 0.85 to 1 based on health care professionals' ratings. The me...
Glucocorticoid treatment is recommended as a standard of care in Duchenne muscular dystrophy; how... more Glucocorticoid treatment is recommended as a standard of care in Duchenne muscular dystrophy; however, few studies have assessed the long-term benefits of this treatment. We examined the long-term effects of glucocorticoids on milestone-related disease progression across the lifespan and survival in patients with Duchenne muscular dystrophy. For this prospective cohort study, we enrolled male patients aged 2-28 years with Duchenne muscular dystrophy at 20 centres in nine countries. Patients were followed up for 10 years. We compared no glucocorticoid treatment or cumulative treatment duration of less than 1 month versus treatment of 1 year or longer with regard to progression of nine disease-related and clinically meaningful mobility and upper limb milestones. We used Kaplan-Meier analyses to compare glucocorticoid treatment groups for time to stand from supine of 5 s or longer and 10 s or longer, and loss of stand from supine, four-stair climb, ambulation, full overhead reach, hand...
International care guidelines established for Duchenne Muscular Dystrophy aim to ensure comprehen... more International care guidelines established for Duchenne Muscular Dystrophy aim to ensure comprehensive medical, rehabilitation, and psychosocial care. Interdisciplinary neuromuscular clinics are recommended as a coordinated care model to anticipate functional changes and manage associated conditions. The magnitude of education and active recommendations that families receive during interdisciplinary team appointments are not known. In this study a qualitative researcher recorded the appointments of 14 families with 15 children during 17 DMD interdisciplinary clinic visits. The child's average age was 12yrs (range 8-17yrs). There were a total of 107 interactions involving 12 clinicians: 1 pediatrician, 1 respirologist, 1 social worker, 1 recreation therapist, 2 registered nurses, 2 occupational therapists, 2 physiotherapists, and 2 respiratory therapists. Each family saw an average of 6 clinicians/visit (range 3-8). The child's average age was 12yrs (range 8-17yrs). Average appointment duration was just over 3 hrs (range 2.5-4 hrs). The assessments generated 206 clinical discussions (average of 12/visit, range 7-19). Specifically 121 resulted in active management plans (average 8/visit, range 4-12) and 75 educational discussions (average 4/visit, range 1-9). The clinical discussions spanned all areas of interdisciplinary DMD management guidelines, however, emphasized rehabilitation and corticosteroid management. The goal of the DMD care guidelines is to have coordinated, all-encompassing care that results in improved quality of life and facilitates the patients to lead rewarding and satisfying lives. However, the quantity of discussions that arise from this model are numerous with some topics being covered more frequently than others. Families perspectives on the volume of recommendations is not known. It is essential that clinicians develop appropriate communication strategies and ensure the ongoing management plans will result in the families and children incorporating the recomendations into their daily life.
Autocrine Secretion of TGF-~I and TGF-(12 by Pre-Adipocytes and Adipocytes: A Potent Negative Regulator of Adipocyte Differentiation and Proliferation of Mammary Carcinoma Cells
In Vitro Cell Dev Biol Animal, 1998
A pilot study using solution-focused coaching for health promotion in children and young people with Duchenne muscular dystrophy
Tumefactive demyelinating lesions may be misdiagnosed as brain neoplasms or abscesses. In this pa... more Tumefactive demyelinating lesions may be misdiagnosed as brain neoplasms or abscesses. In this paper, we present four cases of pediatric tumefactive demyelination. Twelve cases of pediatric tumefactive demyelination previously reported in the English literature are also summarized. We describe the neuroimaging characteristics and clinical presentation of tumefactive demyelination and how these features may be used in differentiating demyelination from other mass lesions.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases, 2012
Deflazacort is the most commonly prescribed corticosteroid for the treatment of Duchenne muscular... more Deflazacort is the most commonly prescribed corticosteroid for the treatment of Duchenne muscular dystrophy in Canada. We review the long-term experience with deflazacort treatment at two centers in Canada; Montreal and Toronto. Deflazacort has benefitted both cohorts by prolonged ambulation, preserved cardiac and respiratory function, less scoliosis and improved survival. Common side effects in both cohorts include weight gain, decreased height and cataract formation. The Canadian experience supports the use of deflazacort in treating boys with Duchenne muscular dystrophy.
1. Intravenous anaesthetics, including propofol and thiopental have at least three distinct effec... more 1. Intravenous anaesthetics, including propofol and thiopental have at least three distinct effects on GABA A receptor function. 2. Low concentrations of these drugs enhance the amplitude of currents evoked by sub-saturating concentrations of GABA whereas higher concentrations directly activate the receptor in the absence of GABA. 3. Propofol and some barbiturates also decrease the rate and extent of desensitization as indicated by a prolongation in the decay of currents evoked by saturating concentrations of GABA. 4. In contrast, sedative benzodiazepines that lack general anaesthetic properties do not directly activate the GABA A receptor. 5. In addition, benzodiazepines such as midazolam, have no effect on desensitization when examined in the presence of saturating concentrations of GABA. 6. Here, we discuss the effects of intravenous general anaesthetic on desensitization of the GABA A receptor.
We describe five patients with Duchenne muscular dystrophy who presented with acute neurologic an... more We describe five patients with Duchenne muscular dystrophy who presented with acute neurologic and respiratory symptoms following minor trauma. Four of the five deteriorated rapidly and died within 36 h after falling. X-rays for fractures were negative. Four of the five patients were taking corticosteroids daily. All five patients fulfilled the clinical criteria for Fat Embolism Syndrome. Autopsy findings were consistent with fat embolism in two cases. Fat Embolism Syndrome needs to be considered in patients with Duchenne muscular dystrophy following minor trauma even without fractures. Early recognition of Fat Embolism Syndrome and aggressive resuscitation are important to improve survival. This report serves as an important reminder that seatbelts need to be used at all times.
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