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BRIEF RESEARCH ARTICLE
Year : 2019  |  Volume : 63  |  Issue : 3  |  Page : 254-257  

Exploring spinal muscular atrophy and its impact on functional status: Indian scenario


1 Professor and Head, Department of Neuro-Physiotherapy, MGM School of Physiotherapy, Navi Mumbai, Maharashtra, India
2 Assistant Professor, Department of Neuro-Physiotherapy, MGM School of Physiotherapy, Navi Mumbai, Maharashtra, India
3 Intern, Department of Neuro-Physiotherapy, MGM School of Physiotherapy, MGM Institute of Health Sciences, Navi Mumbai, Maharashtra, India

Date of Web Publication20-Sep-2019

Correspondence Address:
Meruna Bose
MGM School of Physiotherapy, Sector-1, Kamothe, Navi Mumbai - 410 209, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijph.IJPH_239_18

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   Abstract 


The present study aimed to find out the effect of disease-related impairments on functional status in individuals with spinal muscular atrophy and identify perceived barriers to undergo physiotherapy. The cross-sectional observational study was conducted on 90 participants from January to March 2018 using validated patient-reported questionnaire via electronic mail, along with Fatigue Severity Scale and ACTIVLIM. Results revealed that difficulty in sitting was due to scoliosis (36%) and muscle weakness (23%), the latter also contributing toward difficulty in standing and walking (59%). Inverse relationship exists between ACTIVLIM measures and fatigue severity scores (r = −0.338, P < 0.05), body mass index (r = −0.225, P < 0.05), age (r = −0.258, P < 0.05), and duration of illness (r = −0.257, P < 0.05). Economic constraints (27%), difficulty in traveling (17%), and lack of family support and mobility (14%) are perceived barriers to undergo physiotherapy. Functional impairments and identified barriers must be addressed as part of rehabilitation.

Keywords: Barriers, functional impairments, physiotherapy, spinal muscular atrophy


How to cite this article:
Bose M, Parab SD, Patil SM, Pandey NA, Pednekar GV, Saini SS. Exploring spinal muscular atrophy and its impact on functional status: Indian scenario. Indian J Public Health 2019;63:254-7

How to cite this URL:
Bose M, Parab SD, Patil SM, Pandey NA, Pednekar GV, Saini SS. Exploring spinal muscular atrophy and its impact on functional status: Indian scenario. Indian J Public Health [serial online] 2019 [cited 2020 Jul 13];63:254-7. Available from: http://www.ijph.in/text.asp?2019/63/3/254/267211



Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness due to degeneration and loss of anterior horn cells in the spinal cord and brainstem nuclei. SMA has a prevalence of 1–2/100,000 persons.[1] This disease is caused by a homozygous mutation or deletion of survival motor neuron gene I (SMN1), which is located in telomeric region of chromosome 5q13. Principle determinant of severity is number of copies of SMN2 gene which is similar to SMN1 producing only 25% of SMN protein. Lack of SMN protein leads to degeneration of alpha (α) motor neurons located in the ventral horn of spinal cord, which leads to progressive and symmetrical muscle weakness and paralysis.[1]

SMA is classified from Type I to Type IV based on age of disease onset and maximal motor function achieved.[1] Individuals with SMA encounter numerous associated health problems and challenges as disease progresses.[2] Considering varied problems in SMA, patients require multidisciplinary comprehensive medical care.[3] In addition to features related to motor unit loss in SMA, the secondary impairments are caused in the musculoskeletal, gastrointestinal, cardiovascular, and respiratory systems. Common concerns for rehabilitation are involvement of the musculoskeletal system which include muscle weakness of varying degree, contractures, increased risk of pain, osteopenia resulting in fractures, and deformities of extremity and spine.[4] Respiratory muscles are affected, resulting in poor airway clearance, hypoventilation, breathlessness, and recurrent infections.

There is limited knowledge, lack of evidence-based literature, and varying opinions among clinicians which creates difficulty in planning treatment and provides care for patients with SMA. Physiotherapy is recommended in management of SMA. Considering SMA to be progressive disease, family or individual prefer not to participate in therapy programs. Scenario in developing country like India is all the more complex in spite of physiotherapy being proved to improve functional status in SMA.[5] Lack of effective medical treatment and assistive technology, cost of treatment which is prohibitively high, accessibility to health-care services, and awareness about condition in society are major challenges. Literature review demonstrates only disease-related impairments encountered in patients with SMA.[4] There is a dearth of literature focusing on effect of physical impairments on functional status.

SMA with a wide clinical spectrum, ranging from early death to normal adult life with only mild weakness, we anticipate that there will be limited mobility and ability to perform activities of daily living (ADLs). Hence, it is important to understand how these disease-specific impairments affect function. To the best of our knowledge, this study is first of its kind in India. The objective of our study was to find out the impact of disease-specific impairments on functional status of SMA in India and to identify perceived barriers to undergo physiotherapy.

The study commenced after ethical approval from MGM School of Physiotherapy, Navi Mumbai. Inclusion criteria were clinically definite or laboratory supported diagnosis of SMA. Questionnaire along with ACTIVLIM and Fatigue Severity Scale was electronically mailed to 120 individuals with SMA January–March 2018, nationwide from database of support group, of which 90 participants filled questionnaire electronically. In case of language barrier or illiteracy, questionnaire was filled by unbiased test operators, with help of verbal communications. Survey was open for participation for 3 months. Participants from maximum states of India participated in this survey.

Informed consent and genetic test report was obtained from all the participants. Questionnaire including both open- and closed-ended questions was designed based on framework provided by activity and participation domains of the International Classification of Functioning, which was face validated by panel of pediatrician, neurologist, and physiotherapists. Questionnaire was divided into three sections: Section 1 included demographic details, Section 2 included questions based on highest functional status achieved and perceived difficulties based on different systems involved, and Section 3 included perceived facilitators and barriers to undergo physiotherapy. Patients/caregivers filled out questionnaire through Google Forms. Each participant also completed ACTIVLIM and Fatigue Severity Scale which are valid measures evaluating activity limitations and fatigue severity, respectively.[6],[7] Demographic data including name, age, sex, height, and weight and clinical data regarding SMA type, duration of illness, and current functional status were documented. Statistical analysis was done using Statistical Package for the Social Sciences version 20 (IBM, India). Data were normally distributed, and level of significance was set at P ≤ 0.05. Descriptive statistics were explored and linear regression model was used between fatigue and body mass index (BMI).

Maximum responses were obtained from the South zone (39%), North zone (29%) and then followed by West (16%), East (14%), and Central zone (3%). 58 males (64%) and 32 females (36%) participated in the study with a median age 10 years (interquartile range 16). Respondents reported difficulties in sitting were due to scoliosis (36%), muscle weakness (23%) followed by pain (17%). Standing and walking were difficult due to muscle weakness (59%), poor balance (11%), and deformities (11%). Distribution, according to type of SMA and current functional status, is described [Table 1].
Table 1: Distribution according to the type of spinal muscular atrophy and current functional status

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Figure 1 represents percentage of responses indicating perceived barriers to undergo regular physiotherapy.

There was significant positive correlation between age (r = 0.231, P < 0.05), BMI (r = 0.265, P < 0.05), and fatigue severity score of patients with SMA. Results indicate inverse relationship between ACTIVLIM measures and fatigue severity scores (r = −0.338, P < 0.05). Similar results were computed for BMI (r = −0.225, P < 0.05), age (r = −0.258, P < 0.05) and duration of illness (r = −0.257, P < 0.05).

The present study aimed to identify impact of physical impairments on functional status and identify perceived areas of difficulty in performing functional activities which is a less explored area of interest, and to the best of our knowledge, this is the first report of its kind. Physiotherapy is recommended for management of SMA, still adherence to therapy is relatively poor. It was identified that sitting, standing, and walking were major challenges faced irrespective of type of SMA.

Difficulty in sitting was a reported by maximum participants due to muscle weakness, lack of balance, and scoliosis followed by pain. Neuromuscular weakness results in scoliosis causing instability and poor sitting posture which further results in biomechanical alteration of spinal structures. Pain in back and chest are related complications due to limited thoracic expansion as a result of deviation in the spine which causes asymmetrical inflation of lungs, thus decreasing compliance and making breathing difficult. Rate of scoliosis progression is faster in patients who loose ambulation at or before puberty. This suggests that preserved ability to stand and/or walk can help delay scoliosis progression.[4]

Along with sitting, difficulties in standing and walking were also reported by majority of participants which is contributing to difficulty in performing ADLs, traveling, and performance in occupation. Maintaining standing and walking is difficult due to muscle weakness, poor balance, weight-related issues, pain, deformities such as scoliosis, dislocation of joints, and contractures at hip, knee, and ankle. Decreased ability to actively move throughout range and agonist–antagonist imbalance contributes to fibrotic changes in muscle resulting in reduced extensibility and disruption of muscle fiber architecture, leading to myogenic contractures. Lack of weight bearing and positioning in sitting, compensatory postural changes used to stabilize joints for upright standing also leads to contractures. Participants reported history of falls leading to dislocations and contractures adding to reduced mobility, fear of fall, and pain. Falls have negatively impacts on functions, thus reducing self-confidence.

Majorly affected activities were toileting, going to school/workplaces, traveling using public transport, mobility within workplace/academic institutions, attending social gatherings, activities requiring indoor mobility, and leisure activities. Sitting, exercising, and ADLs were the common activities which lead to fatigue in SMA patients followed by writing and standing.

Participants reported that they rescheduled/reorganized their daily routine activities, as to reduce the amount of energy expenditure. Fatigue in SMA is a result of increased axonal branching due to collateral sprouting which results in activity-dependent conduction block.[8] Excessive sweating also contributed to increase fatigue in activities such as walking, writing, and holding objects. The findings demonstrate an inverse relationship between measures of activity limitation and fatigue, indicating participation can be improved if fatigue is managed in patients with SMA.

Participants reported that disturbed sleeping was caused due to the inability to change body positions, and this may also contribute to exertion during day time. Furthermore, increasing age and BMI contribute to lower scores on measures of activity limitation highlighting need to keep a vigilant watch on weight gain as growth takes place. It has been inferred that although children with SMA may plot as underweight based on criteria derived for normal children. Literature demonstrates that there is reduction in fat-free mass but increased levels of fat mass in patients with SMA.[9] Increased fat mass may cause additional burden to already weakened muscles due to disease process, further leading to increased functional limitations. Obesity is a modifiable risk factor, managing it in neuromuscular conditions is a challenge owing to reduced activity levels and fatigue.

Participants dependent on wheelchair for mobility reported that it is major restraint in social and vocational development of patient. It was difficult to carry out toileting activities, as they were unable to transfer themselves from wheelchair to toilet seats. Lack of wheelchair accessible environment also creates difficulties in accessibility and accommodation. Perceived barriers were uneven road surfaces, poorly maintained sidewalks, and public transportation.[10] Participants were not able to participate in activities within their community and tend to miss out on schools/colleges/office. Poor infrastructure and unavailability of western toilet and ramps are various areas due to which there is restriction in accessibility. [Figure 1] represents the percentage of responses indicating perceived barriers to undergo regular physiotherapy.
Figure 1: Pie chart represents percentage of responses indicating perceived barriers to undergo regular physical therapy.

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Socioeconomic status was a barrier for participating in overall medical programs. As reported by participant's, financial problems, lack of family support, lack of mobility, traveling long distances, accessing public transport, and lack of experienced therapists are restricting factors for participation in therapy programs. Majority of participants underwent physiotherapy frequently and believe that therapy has a positive impact on functioning. Therefore, physiotherapy should be offered to patients for maintenance of function and to achieve optimal functional state consistent with disease process. Awareness is essential so as to develop a positive attitude among people, and in-depth knowledge will help them to understand effectiveness of physiotherapy and attain a better level of functioning in daily life.

In conclusion, the results of this survey contribute to most important perceived functional limitations and barriers to undergo therapy. Functional impairments important to patients and caregivers include inability to sit, stand, and walk. The present study provides insights into those areas of greatest concern for SMA population in a developing country.

Acknowledgment

We would like to thank MGM School of Physiotherapy and MGM Institute of Health Sciences, Navi Mumbai, Maharashtra, for motivation and support. We also thank families of SMA participants who enthusiastically responded to our study.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

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Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis 2017;12:124.  Back to cited text no. 1
    
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Mercuri E, Finkel R, Montes J, Mazzone ES, Sormani MP, Main M, et al. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials. Neuromuscul Disord 2016;26:126-31.  Back to cited text no. 2
    
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Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 2018;28:197-207.  Back to cited text no. 3
    
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Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22:1027-49.  Back to cited text no. 4
    
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Dunaway S, Montes J, McDermott MP, Martens W, Neisen A, Glanzman AM, et al. Physical therapy services received by individuals with spinal muscular atrophy (SMA). J Pediatr Rehabil Med 2016;9:35-44.  Back to cited text no. 5
    
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Vandervelde L, Van den Bergh PY, Goemans N, Thonnard JL. ACTIVLIM: A Rasch-built measure of activity limitations in children and adults with neuromuscular disorders. Neuromuscul Disord 2007;17:459-69.  Back to cited text no. 6
    
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Werlauff U, Højberg A, Firla-Holme R, Steffensen BF, Vissing J. Fatigue in patients with spinal muscular atrophy type II and congenital myopathies: Evaluation of the fatigue severity scale. Qual Life Res 2014;23:1479-88.  Back to cited text no. 7
    
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Noto Y, Misawa S, Mori M, Kawaguchi N, Kanai K, Shibuya K, et al. Prominent fatigue in spinal muscular atrophy and spinal and bulbar muscular atrophy: Evidence of activity-dependent conduction block. Clin Neurophysiol 2013;124:1893-8.  Back to cited text no. 8
    
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Sproule DM, Montes J, Montgomery M, Battista V, Koenigsberger D, Shen W, et al. Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy. Neuromuscul Disord 2009;19:391-6.  Back to cited text no. 9
    
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Devi S, Goyal S, Ravindra S. Evaluation of environmental barriers faced by wheelchair users in India. Disabil CBR Inclusive Dev 2013;24:61-74.  Back to cited text no. 10
    


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