Spinal Muscular Atrophy
Definition
Spinal Muscular Atrophy (SMA) is a genetic disease that affects the part of the nervous system that controls voluntary muscle movement. SMA involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease.
SMA can affect a child's ability to crawl, walk, sit up, and control head movements. Severe SMA can damage the muscles used for breathing and swallowing.
Chromosome 5 SMA is caused by a deficiency of a motor neuron protein called SMN, for “survival of motor neuron.” This protein seems to be necessary for normal motor neuron function. Its deficiency is caused by genetic flaws on chromosome 5 in a gene called SMN1. Neighboring SMN2 genes can in part compensate for nonfunctional SMN1 genes.
The age at which SMA symptoms begin has to do with the degree to which motor function is affected: The earlier the age, the greater the impact on motor function. Children who display symptoms at birth or in infancy typically have the lowest level of functioning, type 1. SMA in children is usually types 2 and 3. While teens or adults are usually type 4 which generally correlates with increasingly higher levels of motor function.
Instructional Strategies
SMA doesn't affect the brain or development, meaning that it shouldn't affect a child's ability to learn in school. Parents should fight for their children to be placed in appropriate academic classrooms to ensure his/her intellectual growth. The child's physical limitations should not limit him/her from receiving academic stimulation in a developmentally-appropriate environment.
Children or teens with SMA may be assigned a paraprofessional (individual teaching aide) or a one-to-one classroom aide to assist them in getting around, lifting or moving objects in the classroom, and using the bathroom. Classroom accommodations may be necessary, but the student can achieve academically on his/her own. The changes that may need to be made in classrooms are the layout of furniture, where the student is sitting in concerns of ability to get to other necessary places, and things similar to those.
Some ways the school could help the student is by offering physical therapy, time for stretching in class, safety training in the hallways, classrooms, playground, etc. Students with SMA may also be placed in adapted/modified physical education.
Useful Websites
1. https://www.healthline.com/health/spinal-muscular-atrophy/navigating-sma/life-with-sma#2
2. https://www.mda.org/disease/spinal-muscular-atrophy
3. https://www.mda.org/sites/default/files/Guide_SchoolAccommodations-SMA2.pdf
4. http://www.learnaboutsma.org/
6. https://kidshealth.org/en/parents/sma.html
7. https://smanewstoday.com/sma-life-expectancy/
Research
Lawton, S., Hickerton, C., Archibald, A. D., McClaren, B. J., & Metcalfe, S. A. (2015). A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy. European Journal of Human Genetics : EJHG, 23(5), 575-580. doi:10.1038/ejhg.2014.147
This is about multiple families’ journeys having a family member who lives with SMA. It follows along the families journeys from when symptoms are first noticed to finally receiving the diagnosis of SMA. This journey can be very emotional and frustrating. On the journey of being diagnosed with SMA, each family had visited countless doctors to consult about the symptoms and once the diagnosis was made the families became upset with the results they had been searching for. The families all felt like they weren't given the information is proper and timely ways. Most of the families in this article felt that their child could have been diagnosed sooner and while that wouldn't have affected the outcome, they felt the emotional distress could have been less. The families are all in favor of screenings to see if parents are carriers of SMA .
Rai, S., Bhalke, S., & Hajela, R. (2015). spinal muscular atrophy. Journal of Evolution of Medical and Dental Sciences, 4(71), 12468-12469. doi:10.14260/jemds/2015/1795
This journal is a case study of a 25 month old male who has SMA type 2. In this article it explains in full what SMA is and how it effects people. This specific 25 year old male was born with a few other developmental delays. It wasn't until a few months after birth that it was discovered he had SMA type 2.
Whittaker, H. T., & Michell-Robinson, M. A. (2018). Therapy for spinal muscular atrophy. The New England Journal of Medicine, 378(5), 487.
This article discusses the different types of therapy for someone with type 1 SMA. The two types mentioned are antisense oligonucleotides and gene therapy. However, this study can't be used to help persuade for one therapy or another because it was disclosed that the ages in the infants and therapies being used could have different results. The goal of this article is just to inform on the difference between the two.
Other
For a video explaining everything on this webpage, watch this ---->
*all sources are listed in useful websites or from the research
