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Scientific literature and patient education texts
62 resources available:
Safety and Efficacy of Risdiplam in Patients With Type 1 Spinal Muscular Atrophy (FIREFISH Part 2): Secondary Analyses From an Open-Label Trial
The Lancet Neurology Year: 2022
Background:
Risdiplam is an orally administered therapy that modifies pre-mRNA splicing of the survival of motor neuron 2 (SMN2) gene and is approved for the treatment of spinal muscular atrophy. The FIREFISH study is investigating the safety and efficacy of risdiplam in treated infants with type 1 spinal muscular atrophy versus historical controls. The primary endpoint of part 2 of the FIREFISH study showed that infants with ty...
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BookmarkBehavioral Problems in Infants and Young Children With Spinal Muscular Atrophy and Their Siblings: A Cross-Sectional Study
European Journal of Paediatric Neurology: EJPN Year: 2022
Introduction:
Older children and adults with spinal muscular atrophy (SMA) have been shown to have more anxiety, depression, and other behavioral problems in a few studies. But no similar studies have been performed in infants and young children with SMA.
Method:
Behavioral co-morbidities of young children with SMA were compared with healthy and children with chronic non-neurological illness control group. I...
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BookmarkMuscle Impairment in MRI Affect Variability in Treatment Response to Nusinersen in Patients With Spinal Muscular Atrophy Type 2 and 3: A Retrospective Cohort Study
Brain & Development Year: 2022
Background:
Real-world data have shown variability in treatment responses to nusinersen in spinal muscular atrophy (SMA). We investigated whether the magnitude of muscle impairment assessed by magnetic resonance imaging (MRI) at baseline can predict the treatment response.
Methods:
We retrospectively assessed the clinical data in relevance to the thigh and pelvic MRI taken before the nusinersen treatment. A...
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BookmarkNutritional, Gastrointestinal and Endo-Metabolic Challenges in The Management of Children with Spinal Muscular Atrophy Type 1
Nutrients Year: 2021
The management of patients with spinal muscular atrophy type 1 (SMA1) is constantly evolving. In just a few decades, the medical approach has switched from an exclusively palliative therapy to targeted therapy, transforming the natural history of the disease, improving survival time and quality of life, and creating new challenges and goals. Many nutritional problems, gastrointestinal disorders, and metabolic and endocrine alterations are comm...
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BookmarkWalking and Weakness in Children: A Narrative Review of Gait and Functional Ambulation in Paediatric Neuromuscular Disease
Journal of Foot and Ankle Research Year: 2020
Background: Weakness is the primary impairment in paediatric neuromuscular diseases, impacting gait and gait-related functional activities in ambulant children affected by these rare and often degenerative diseases. Gait speed is an indicator of health and disability, yet gait is a complex, multi-faceted activity. Using the International Classification of Function, Health and Disability (ICF) model, assessment of gait and func...
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BookmarkAssessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents
Journal of clinical medicine Year: 2021
Central nervous system (CNS) involvement has been variously studied in pediatric neuromuscular disorders (NMDs). The primary goal of this study was to assess cognitive functioning in NMDs, and secondary aims were to investigate possible associations of cognitive impairment with motor impairment, neurodevelopmental delay, and genotype. This was a cross-sectional study of 43 pediatric patients, affected by six NMDs. Myotonic dystrophy type 1 (DM...
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3 resources available:
Guidance on Gene Replacement Therapy in Spinal Muscular Atrophy: A Canadian Perspective
Canadian Journal of Neurological Sciences Year: 2021
Spinal muscular atrophy (SMA) is the second most common autosomal recessive disorder in childhood. It is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and characterized by degeneration of motor neurons leading to progressive muscle weakness and atrophy. A similar backup gene called survival motor neuron 2 gene (SMN2) acts as a disease modifier, with increasing number of SMN2 copies associated wit...
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BookmarkExpert Recommendations and Clinical Considerations in the Use of Onasemnogene Abeparvovec Gene Therapy for Spinal Muscular Atrophy
Muscle and Nerves Year: 2021
Spinal muscular atrophy (SMA) is an autosomal recessive, neurodegenerative disease caused by biallelic mutations in the survival motor neuron 1 (SMN1) gene. SMA is characterized by motor neuron degeneration, resulting in progressive muscle atrophy and weakness. Before the emergence of disease-modifying therapies, children with the most severe form of SMA would never achieve the ability to sit independently. Only 8% survived b...
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BookmarkCarrier Screening for Genetic Conditions
American College of Obstetricians and Gynecologists Year: 2017
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to lear...
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Winter Weather Wheelchair Tips
United Spinal Association
Winter weather wheelchair tips are not for everyone. They’re for those wheelchair users whose destiny didn’t include a nice warm corner of the world.
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Looking for a gift for a child with special needs? From adaptive art tools to parachutes, check out 35 fun & functional gifts for children with disabilities!
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BookmarkEvery kid deserves to flaunt their best ensemble on Halloween. Get inspired by these adaptive Halloween costumes to buy or DIY, which cater to children with mental and physical disabilities.
Bookmark28 Hacks That Can Make Going to College with a Chronic Illness Easier
Mighty Proud Media, Inc. Year: N/A
Heading off to college can be a stressful and chaotic time on its own – but throw a chronic illness (or a few) into the mix and it becomes even trickier to manage all the demands of your day-to-day life. High stress levels or a lack of sleep can easily exacerbate your condition and lead to flare-ups, so it’s important to balance your schedule, plan ahead and make sure you have any accommodations you need to be successful.
To help you...
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The start of a new school year can be stressful for the whole family, especially when juggling healthcare appointments, IEP plan meetings, school supply shopping, and assembling a back-to-school wardrobe.
At the same time, stress can make neuromuscular conditions worse. For example, research published in the journal Developmental Biology found that stress can induce muscle degeneration, making them less adaptive to temperature changes. A...
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BookmarkSection 504 of The Rehabilitation Act of 1973
Center for Parent Information and Resources Year: 2016
Section 504 of the Rehabilitation Act of 1973, as amended, is a civil rights law that prohibits discrimination on the basis of disability. This law applies to public elementary and secondary schools, among other entities.
Section 504 requires that school districts provide a free appropriate public education (FAPE) to qualified students in their jurisdictions who have a physical or mental impairment that substantially limits one or more m...
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2 resources available:
Comparison of Nusinersen and Evrysdi in the Treatment of Spinal Muscular Atrophy
E3S Web of Conferences Year: 2021
Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease that commonly affects children, and usually worsens with age that often leads to permanent disability and death for many of the SMA patients. Recently, two drugs are developed to improving the quality of life of SMA sufferers: Evrysdi and Nusinersen. This study is identified by a systematic literature review to compare two treatments. The comparison attempts to...
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BookmarkFilling the Gaps in Knowledge Translation: Physical Therapy Recommendations for Individuals With Spinal Muscular Atrophy Compared to Standard of Care Guidelines
Neuromuscular Disorders Year: 2021
This study describes the current landscape of physical therapy practice recommendations in the United States for children with spinal muscular atrophy (SMA) and their relationship to current SMA standard of care (SMA-SOC) guidelines. Pediatric physical therapists were surveyed to determine their knowledge of SMA-SOC guidelines, and the type, duration and frequency of intervention they recommend for children with SMA, as well...
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Severity of SMA Muscle Impairment Prior to Treatment May Have Implications for Nusinersen Efficacy
The American Journal of Managed Care - AJMC Year: 2022
A new study has found that the severity of muscle impairment and scoliosis before treatment may help predict response to nusinersen for certain patients with spinal muscular atrophy (SMA).
The retrospective study of patients with SMA type 2 and 3, published in Brain and Development, found that the severity of fatty infiltration and muscle atrophy at the start of treatment had implications for changes in motor function after treatment with nusi...
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BookmarkManaging Pregnancy in a Spinal Muscular Atrophy Type III Patient in Indonesia: A Case Report
Journal of Medical Case Reports Year: 2022
Spinal muscular atrophy (SMA) is a genetic disorder characterized by degeneration of lower motor neurons, leading to progressive muscular atrophy, muscle weakness, and muscle paralysis. SMA is usually associated with defect of the survival motor neuron-1 (SMN-1) gene, localized in 5q11.2–q13.3. Classification of SMA is based on the age of onset and maximum motor function milestone achieved: SMA type I (Werdnig–Hoffmann di...
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BookmarkEvaluation of a Case Management to Support Families With Children Diagnosed With Spinal Muscular Atrophy—Protocol of a Controlled Mixed-Methods Study
Frontiers in Pediatrics Year: 2021
Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells in the spinal cord, resulting in muscle atrophy, and proximal muscle weakness. SMA presents with a wide range of symptoms requiring multiple clinical specialists and therapists. Integrating care between disciplines can be challenging due to the dynamic course of the disease, and great distances between specia...
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BookmarkMissense Mutation in Gene Caused Psychomotor Developmental Delay and Muscle Weakness: A Case Report
World journal of clinical cases Year: 2021
The gene encodes a part of the dynamic protein, and the protein mutations may further affect the growth and development of neurons, resulting in degeneration of anterior horn cells of the spinal cord, and a variety of clinical phenotypes finally resulting in axonal Charcot-Marie-Tooth disease type 20 (CMT20), mental retardation 13 (MRD13) and spinal muscular atrophy with lower extremity predominant 1 (SMA-LED). The incidence of the disease is...
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BookmarkGene Replacement Therapy With Onasemnogene Abeparvovec in Children With Spinal Muscular Atrophy Aged 24 Months or Younger and Bodyweight up to 15 Kg: An Observational Cohort Study
The Lancet. Child & Adolescent Health Year: 2022Given the novelty of gene replacement therapy with onasemnogene abeparvovec in spinal muscular atrophy, efficacy and safety data are limited, especially for children older than 24 months, those weighing more than 8·5 kg, and those who have received nusinersen. We aimed to provide real-world data on motor function and safety after gene replacement therapy in different patient subgroups.
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