Keywords Activities of Daily Living - Social Participation - Rehabilitation - International
Classification of Functioning, Disability and Health - Neuromuscular Diseases
Palavras-chave Atividades Cotidianas - Participação Social - Reabilitação - Classificação Internacional
de Funcionalidade, Incapacidade e Saúde - Doenças Neuromusculares
INTRODUCTION
Neuromuscular diseases (NMD) encompass acquired or inherited health conditions directly
or indirectly affecting muscle function. These disorders result from deficiencies
in various structures of the body, including muscles (e.g., Duchenne and Becker muscular
dystrophy and myopathies), motoneurons (e.g., spinal amyotrophy and amyotrophic lateral
sclerosis), peripheral nerves (e.g., Charcot-Marie-Tooth disease), or the neuromuscular
junction (e.g., myasthenia gravis). Characterized by a progressive natural history,
these conditions commonly manifest with weakness and fatigue and may also lead to
spasms, muscle pain, dysphagia, dysarthria, and impairment of heart and respiratory
functions.[1 ]
The progressive condition and severity of NMD lead to limitations and restrictions
in the performance of activities and participation, mainly in communication, mobility,
self-care, household activities, interpersonal relationships, and community life.[2 ] From the perspective of individuals with NMD and their families, their priorities
with respect to rehabilitation include mobility and transference, followed by self-care.[3 ] Nevertheless, the guidelines and research for the rehabilitation of patients with
NMD mostly aim to assess the outcomes related to body structure and function.[4 ]
[5 ]
[6 ]
[7 ] Recent systematic reviews with conditions specific to the NMD group have been observed
to report inconclusive or low evidence results for the role of rehabilitation directly
on muscle function.[5 ]
[8 ]
[9 ]
[10 ] One study identified that strength training alone seems to have little or no effect
in preventing disuse.[5 ] In this same vein, they reinforce that exercises in slowly progressive adult muscular
dystrophies, such as facioscapulohumeral and myotonic dystrophy, should not be prescribed
with the goal of restoring muscle strength. Their results indicate that physical therapists
should focus on resistance training for the maintenance of mobility for slowly progressive
muscular dystrophies and Charcot-Marie-Tooth disease (CMTD).[8 ]
International Classification of Functioning (ICF) is a model for understanding the
relationship that impairments in body structure and function, activity limitation,
participation restrictions, and contextual factors (personal and environmental) have
on the functioning of an individual from a biopsychosocial approach.[11 ] Individuals with Duchenne muscular dystrophy (DMD) have lower levels of social interactions,
recreational activities, and skill development when older compared to younger patients.
Besides this restriction impacting muscle disuse and physical deconditioning, this
finding reinforces the importance of inclusion and the search for strategies that
favour the performance of activities and social participation of these individuals.[12 ] The quality of life of individuals with myasthenia gravis (MG) or muscular dystrophy
is not directly related to their muscle strength.[13 ]
[14 ] Individuals with myasthenia gravis perceive their quality of life to be negatively
affected by difficulty in performing activities of daily living despite the use of
medication to alleviate symptoms. For adults with muscular dystrophies, the quality
of life is directly related to their perceived mental health, independence in performing
activities, and management of fatigue and pain. The social participation of ambulant
patients with amyotrophic lateral sclerosis is restricted mainly by physical limitations,
followed by psychological factors.[15 ] Other factors that restrict the participation of these patient are lung capacity,
functional mobility, fatigue, and feelings of helplessness.
Although the complaints of individuals with NMD are related to limitations of activity
and participation restrictions, rehabilitation professionals experience difficulty
in clinical decision-making since research directs the results to body structure and
function. Knowing that the goals should be drawn together, centered on relevant complaints
for the patient and whether they are achievable,[16 ] directing rehabilitation to body functions that will certainly be lost by the natural
history of NMD makes it impossible to achieve the goals. To be objective and achievable,
the rehabilitation goals must be focused on the functional expectations of these individuals,
i.e., to improve the activities and participation through exercises, adaptations,
and modifications of the environmental context by a multi-professional team. Thus,
this study sought to identify the rehabilitation interventions that modify the activity
and participation of patients with NMD.
METHODS
This systematic review followed the Preferred Reporting Items for Systematic Reviews
and Meta-Analyses (PRISMA 2020) and the AMSTAR 2 checklist for critically appraising
systematic reviews of randomised controlled clinical trials.[17 ]
[18 ] This protocol was previously registered with PROSPERO (CRD42020209359).
Study search and eligibility criteria
The search was conducted on EMBASE, BVS/Lilacs, Physiotherapy Evidence Database (PEDro),
CINAHL/EBSCO, and MEDLINE databases in June 2021, updated in March 2023, without language
or date restrictions. The reference lists of the retrieved studies were also searched
to identify potential studies not otherwise identified in our searches. Randomized
clinical trials (RCT), patient involving individuals with health conditions within
the NMD category, were included. Any rehabilitation modality, exercise program, or
therapy for patient with NMD of any age was considered for intervention, and interventions
were from any area, such as physiotherapy, occupational therapy, physical education,
speech therapy, or complementary therapy. The exclusion criteria comprised preclinical
experimental studies, pharmacologic therapies, expert opinions, case reports, and
abstract-only studies.
Studies with any domain related to the activity and participation in the ICF context
as an outcome were considered. As comparators, any study, irrespective of the type
of exercise or rehabilitation used, was eligible. Studies with no restriction on the
date or language of publication were included.
To ensure saturation in the literature, the searches consisted of index terms (MeSh),
free-text terms, and synonyms. The descriptors were organized into three groups:
Study selection
The steps of study selection, data extraction, methodological quality analysis, and
certainty of the evidence of this review were developed by two reviewers independently
(HLM and SFS), and a third reviewer was consulted in cases of disagreement (TPG).
The studies obtained were exported to the Rayyan® program, and duplicate references
were identified and removed. The reviewers screened the titles and abstracts. Duplicates
were removed prior to selection. Subsequently, the full texts of potentially eligible
papers were evaluated. All reviewers were physical therapists with expertise in NMD.
The details of the excluded studies after the full-text review are listed in [Supplementary Material 2 ] (https://www.arquivosdeneuropsiquiatria.org/wp-content/uploads/2023/11/ANP-2023.0131-Supplementary-Material-2.docx ).
Studies with primary and/or secondary outcomes that addressed the activity and participation
components of the ICF were selected. The reviewers analyzed each of the outcomes and
the measurement instruments used for evaluation, adhering to the ICF core sets for
NMD and following the division proposed by Whiteneck and Dijkers.[19 ] The NMD core sets list chapters 3 to 9 (d3: Communication, d4: Mobility, d5: Self-care,
d6: Domestic life, d7: Interpersonal interactions and relationships, d8: Social, community,
and civic life, and d9: Main areas of life) as significant items. The items in chapters
3 to 6 were considered activities and items in chapters 7 to 9 were considered participations.
The definition of the outcome also adhered to the ICF manual categorizing part of
the activity component if it aimed to intervene in a task or action performed by an
individual. It was classified as part of the participation component when the intervention
aimed to address issues of an individual's involvement in a real-life situation.[2 ]
[19 ]
Data extraction
The reviewers extracted the data using a standardized form:
population (NMD type, sample size of NMD type, and age),
intervention,
comparator,
activity/participation domains assessed, and
outcome measure instruments.
Methodological quality
The methodological quality of the studies meeting the inclusion criteria was evaluated
using the PEDro criteria, yielding a score from 0 to 10. This scale comprises a total
of 11 points, encompassing 10 items related to internal validity and 1 item related
to external validity. It is important to note that, according to the scale's guidelines,
the external validity item is not counted. The total score of 10 items is categorized
into three groups: good methodological quality (7-10), regular (4-6), and poor (0-3)
quality.
Synthesis
The results were categorized according to the domains of activity and participation,
aligning with the core sets for NMD ([Table 1 ]). The determination of activity and participation domains was established through
an examination of the outcomes and assessment instruments outlined in each study.
Table 1
Core Sets of Activity/Participation for patients with NMD
Domains
Definition according to ICF2
d3–Communication
Communication through language, signs and symbols, including receiving and producing
messages, maintaining conversation and using communication devices and techniques.
d4–Mobility
Movement when changing the position or location of the body, transporting, moving
or handling objects from one place to another, walking, running or going up/down and
using different forms of transport.
d5–Self care
Self-care such as washing and drying, taking care of the body and body parts, dressing,
eating and drinking, and taking care of one's own health.
d6 - Domestic life
Shopping, storage, positioning of materials, food, clothing, planning and preparing
meals, doing household chores, cleaning utensils and equipment, removing trash, helping
family members.
d7–Interpersonal interactions and relationships
Respect, tolerate, express opinions, criticize appropriately, establish physical contact,
interact according to social rules, and maintain social space. Establishing relationships
when necessary with strangers, relating formally in certain environments, creating
and developing friendly relationships with acquaintances, colleagues and family, relating
intimately with others on an emotional, physical and sexual basis.
d8 - Social, community and civic life
Participate in community social life, participate in organizations, ceremonies, clubs.
Participate in group recreational activities, go to the cinema, theater, play instruments,
participate in religious or spiritual activities, enjoy nationally and internationally
recognized human rights.
d9 - Main areas of life
Learning informal education with family members, such as crafts, leisure/fun, acquiring
preschool and school education skills, performing lessons, fulfilling obligations
and responsibilities, participating in professional tasks, acquiring and maintaining
work.
Overall certainty of evidence
Two authors independently assessed the certainty of the evidence for the primary outcomes
using the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE)
framework methodology. Five GRADE domains, namely study limitations, consistency of
effect, imprecision, indirectness, and publication bias, were analytically assessed.
The final judgment on certainty was revised and downgraded by one or two levels as
appropriate, reflecting the extent of bias in important quality domains. We used GRADEpro
software® to present the study findings.
RESULTS
The search strategy identified 1943 publications. After the title and abstract screening,
a total of 45 publications were potentially eligible; after the full-text review,
12 publications were included. The details of the selection process are presented
in the flowchart in [Figure 1 ]. [Table 2 ] describes the characteristics of the 12 included RCTs. The sample size of the studies
ranged from 13 to 309 participants; the NMD was amyotrophic lateral sclerosis (ALS)
in 5/12 studies, followed by facioscapulohumeral dystrophy (FSHD) in 4/12 studies,
and hereditary motor and sensory neuropathy (HMSN) in 3/12 studies. The participants
were of both sexes, and the studies were published between the years 1995 to 2021.
Figure 1 PRISMA 2020 flow diagram for updates systematic reviews which included searches of
databases, registers and other sources.
Table 2
Characteristics of the included studies (n = 12)
NMD type
Sample size
Age
(mean ± sd)
Severity
Intervention details
time and frequency of intervention
Outcomes
Mobility
(d4)
Self care
(d5)
Communication (d3)
Participation (d7, d8, d9)
Andersen et al. (2017)[20 ]
FSHD1
(13)
EG: N = 6
CG: N = 7
EG: 53 ± 15 (26–67)
CG: 46 ± 9
(32–59)
FSHD score = 1–11
EG: HIT (cycle-ergometer)
CG: Usual care
8 weeks
(3 × 10-min)
6MWT
5STS
IPAQ
Dal Bello-Haas et al. ( 2007)[21 ]
ALS
(ALSFRS early stage)
(27)
EG = 13
CG = 14
not informed
not informed
EG: stretching exercise program (as CG) and an individualized UE and LE moderate-load
intensity resistance exercise program
CG: Usual care UE and LE stretching exercises
6 months
ALSFRS-R
Lindeman et al. ( 1995)[22 ]
MD
HMSN (types I or II)
(62)
MyD = 33 HMSN = 29
MyD
EG: 40 ± 11
CG: 37 ± 10
NHMS
EG:35 ± 10
CG: 38 ± 11
not informed
EG: Strength training with weights of the proximal lower extremity muscles
CG: nonexercising (CG were encouraged to refrain from training
3x week for 24 weeks
Time scored activities performed as fast as possible: ascending and descending stairs,
rising from a chair, rising from supine on a physical exercise table and walking 50m
6MWT
WOMAC functional part of the Western Ontario and McMaster Universit
SIP-68
SIP-68: Social participation
Nakajima et al. (2021)[23 ]
NMD
(24)
EG = 11
CG = 13
CG= 55,5 ± 7.2
EG = 56 ± 13.2
no rapid changes in
gait symptoms for three months prior to the start of
the trial
GE: Walking program with partial body support and exoeskeletal device for LE
GC: Walking program with partial body support (30min)
13 weeks
(9 sessions)
2MWT (gait distance)
10MWT (speed)
Barthel index
Barthel index
Okkersen et al. (2018)[24 ]
MD1
(255)
EG = 128
CG = 127
EG: 44,8 ± 11,7
CG: 46,4 ± 11,3
EG: Cognitive behavioural therapy intervention and usual care or aerobic exercise
CG: Usual care
10 months (10–14 sessions)
DM1-Activ-C
6MWT
MDHI
DM1-Activ-C
MDHI
DM1-Activ-C
MDHI
Öksüz et al. (2011)[25 ]
NMD
(60)
EG = 30
CG = 30
EG: 37.5 ± 15.1
CG:38.7 ± 15.4
can stand in long leg
braces but unable to walk even with assistance and
who uses a wheelchair full time
EG: Client centred occupational therapy program and conventional therapeutic home exercise
program by a physiotherapist
CG: Conventional physiotherapeutic home exercise program by a physiotherapist
6 months
FIM
DASH
FIM
COPM
Raglio et al . (2016)[26 ]
ALS
(30)
EG = 15
CG = 15
EG: 62.9 ± 9.83
CG: 65.1 ± 12.10
mild–moderate disability (ALS Functional Rating Scale-
Revised ≤40)
EG: Active Music Therapy and usual care
CG: Usual care
12 sessions, 3x/weeks
(4 weeks)
ALSFRS-R
ALSFRS-R
MTRS
Sherief et al . (2021)[27 ]
DMD
(30)
EG = 15
CG = 15
EG: 8.49 ± 0.83
CG: 8.34 ± 0.88
Able to walk alone
level I and II of Ambulation function classification system for
DMD (AFCSD)
EG: physical therapy program and aerobic exercise training by treadmill
CG: physical therapy program and aerobic exercise training by bicycle ergometer
20 min, 3x/week, 3 months
20 min, 3x/week, 3 months
6MWT
Van Groenestijn et al. (2019)[28 ]
ALS
(57)
EG = 27
CG = 30
EG: 60.9 ± 10.0
CG: 59.9 ± 10.7
life expectancy longer
than 1 year; ability to walk with or without walking aid
(≥10 min); and ability to cycle on a cycle ergometer
(≥15 min)
EG: Aerobic cycling exercise program (50-75% HRR) and usual care
CG: Usual care
16 weeks
ALSFRS-R
TUG
SIP-68
IPAQ
Veenhuizen et al. (2019)[29 ]
NMD
(53)
EG = 29
CG = 24
EG: 52 (37-63)
CG: 50 (41-60)
not informed
EG: Aerobic exercise training (50-70% HRR) and self-management strategies
CG: Usual care
16 weeks
3x week of 30 min
6MWT
COPM
Voet et al . (2014)[30 ]
FSHD1
(57)
EG1 = 20
EG2 = 13
CG = 24
EG1: 59 (21–68)
EG2:49 (24–69)
CG: 52 (20–79)
Able to walk independently (ankle-foot orthoses and canes
are accepted)
EG1: Aerobic cycling exercise training (50-65% HRR)
EG2: Cognitive-behavioral therapy
CG: Usual care
30 min, 3x/week, 16 weeks
(GE1)
minimum of 3 session (GE2)
6MWT
CIS-activity
SIP-68
SIP-68
Zivi et al. (2018)[31 ]
Peripheral neuropathies
(40)
EG = 21
CG = 19
EG: 66.3 ± 13.0
CG: 71.8 ± 7.7
ability to
maintain the upright position and to walk even if
with assistance
EG: Gait and balance of aquatic physiotherapy
CG: Gait and balance of on-land training
4 weeks of daily sessions of usual physiotherapy
3x week of specific treatment (aquatic vs. on-land)
DGI
BBS
FIM
Functional Ambulation Classification
Abbreviations: 10MWT (speed), 10 min walk test; 2MWT (gait distance), 2 min walk test;
5STS, 5-time sit-to-stand time; 6MWT, 6-min walk distance; ALS, amyotrophic lateral
sclerosis; ALSFRS, Functional Rating Scale; BBS, Berg Balance Scale; CG, Control group;
CIS-activity, Checklist Individual Strength; COPM, Canadian Occupational Performance
Measure; DASH, Disabilities of the Arm Shoulder and Hand Questionnaire; DGI, Dynamic
gait index; DM1-Activ-C, DM1-Activ-c scale; EG, Exercise group; FIM, Functional Independence
Measure; FSHD1, facioscapulo-humeral muscular dystrophy type 1; HIT, high-intensity
training; HMSN, hereditary motor and sensory neuropathy; HRR, heart rate reserve;
IPAQ, International Physical Activity Questionnaire; LE, lower extremity; MD, myotonic
dystrophy; MD1, myotonic dystrophy type 1; MDHI, Myotonic Dystrophy Health Index;
MTRS, Music Therapy Rating Scale; NMD, neuromuscular diseases; sd, standart deviation;
SIP-68, Sickness Impact Profile; SS, Sample size; TUG, Timed Up and Go; UE, upper
extremity; WOMAC, functional subscale of the Western Ontario and McMaster University.
The interventions were aerobic exercise (7/12) and resistance exercise program (4/12),
followed by cognitive behavioral therapy (2/12), active music therapy (1/12), aquatic
exercise (1/12), and high-intensity training (1/12). The tested patients were compared
either with control groups consisting of healthy individuals in four studies (referências ) or with matched groups having the same NMD undergoing standard treatment in eight
other studies (referências ). The articles defined conventional/usual treatment as maintenance of rehabilitation
with a multi-professional team or permission to perform exercises they had been performing
before the beginning of the study. The period of interventions ranged from 4 to 24
weeks ([Table 2 ]). The included studies had PEDro scale scores between 4 and 8, with each item detailed
in [Table 3 ]. Of these 12 studies, 6 studies had good methodological quality,[24 ]
[26 ]
[27 ]
[29 ]
[30 ]
[31 ] and 6 studies had regular quality.[20 ]
[21 ]
[22 ]
[23 ]
[25 ]
[28 ]
Table 3
Methological quality of the included studies using the Physiotherapy Evidence Database
(PEDro) scale (n = 12)
Study
1
2
3
4
5
6
7
8
9
10
Total
Andersen et al. (2017)[20 ]
Y
N
Y
N
N
N
N
N
Y
Y
4/10
Dal Bello-Haas et al.( 2007)[21 ]
Y
Y
N
N
N
Y
Y
Y
Y
N
6/10
Lindeman et al. ( 1995)[22 ]
Y
N
Y
N
N
Y
Y
N
Y
Y
6/10
Nakajima et al. (2021)[23 ]
Y
N
Y
N
N
N
Y
N
Y
Y
5/10
Okkersen et al. (2018)[24 ]
Y
N
Y
N
N
Y
Y
Y
Y
Y
7/10
Öksüz et al. (2011)[25 ]
Y
Y
Y
N
N
N
N
N
Y
Y
5/10
Raglio et al. (2016)[26 ]
Y
Y
Y
Y
N
N
Y
Y
Y
Y
8/10
Sherief et al. (2021))[27 ]
Y
Y
Y
N
N
Y
Y
N
Y
Y
7/10
Van Groenestijn et al. (2019)[28 ]
Y
N
Y
N
N
Y
N
Y
Y
Y
6/10
Veenhuizen et al. (2019)[29 ]
Y
Y
Y
N
N
Y
Y
Y
Y
Y
8/10
Voet et al. (2014)[30 ]
Y
N
Y
N
N
Y
Y
Y
Y
Y
7/10
Zivi et al. (2018)[31 ]
Y
Y
N
N
N
Y
Y
Y
Y
Y
7/10
Notes: 1. subjects were randomly allocated to groups (in a crossover study, subjects
were randomly allocated an order in which treatments were received); 2. allocation
was concealed; 3. the groups were similar at baseline regarding the most important
prognostic indicators; 4. there was blinding of all subjects; 5. there was blinding
of all therapists who administered the therapy; 6. there was blinding of all assessors
who measured at least one key outcome; 7. measures of at least one key outcome were
obtained from more than 85% of the subjects initially allocated to groups; 8. all
subjects for whom outcome measures were available received the treatment or control
condition as allocated or, where this was not the case, data for at least one key
outcome was analysed by “intention to treat”; 9. the results of between-group statistical
comparisons are reported for at least one key outcome; 10. the study provides both
point measures and measures of variability for at least one key outcome.
Domains of the activity and participation component and instruments
Four domains of activity and participation were identified in the included studies:
mobility (d4), communication (d3), self-care (d5), and social participation (d7/d8).
No RCTs were found with domestic life outcomes (d6) or for domains d7, d8, or d9 individually.
The studies employed the term “social participation” to characterize situations investigating
an individual's involvement in life situations. This was analyzed using instruments
that assess the impact of the condition on various areas of life and the expectations
regarding participation ([Table 1 ]).
The functional tests or measurement instruments used to investigate mobility were
generic: 6-minute walk test - 6MWT (6/12) and its variation to TC2M (1/12), Timed
up and go - TUG (1/12), Dynamic Gait Index - DGI (1/12), Berg Balance Scale - BBS
(1/12), Functional Independence Measure - FIM (2/12), Sit and Stand test (5 times)
(1/12), 10-m walking speed - VM10M (1/12), Barthel index (1/12), and timed tests (1/12).
The other instruments were specific for the condition studied, such as the ALSFRS-R
for ALS or DM1-Activ-C for myotonic dystrophy type 1(MD-1).
To assess social participation, the generic Canadian Occupational Performance Measure
(COPM) and the Sickness Impact Profile (SIP-68) were used for FSHD. The assessment
of communication outcomes employed the Music Therapy Rating Scale (MTRS), a tool specifically
designed to evaluate verbal and non-verbal communication. Regarding self-care assessment,
the SIP-68 was the main instrument for the FSHD, myotonic dystrophy, and HMSN type
I and II. For ALS, ALSFRS-R was used, and for MD1, the DM1-Activ-C Scale was applied.
Mobility
Mobility was investigated in the 12 included articles.[20 ]
[21 ]
[22 ]
[23 ]
[24 ]
[25 ]
[26 ]
[27 ]
[28 ]
[29 ]
[31 ] Zivi et al.[29 ] investigated the effect of aquatic therapy based on gait/balance training in 40
individuals with peripheral neuropathies, comparing it with ground training. The aquatic
therapy was subdivided into stages: relaxation exercises and breathing control, balance
and postural control exercises, and gait exercises. Aquatic therapy for patients with
peripheral neuropathies was as effective for mobility as gait training on land; however,
the dynamic gait index (DGI) score was significantly higher in the aquatic therapy
group.
Another study with 255 individuals with myotonic dystrophy type 1 used 10 to 14 sessions
of cognitive behavioural therapy associated with aerobic exercises, such as running,
cycling, or dancing, as intervention for 30 minutes 3 times a week. The control group
underwent conventional multidisciplinary treatment in secondary care. The intervention
was able to increase social participation and mobility in individuals, improving scores
on the DM1-ActivC Scale and the 6MWT in 10 months.[24 ]
Lindeman et al.[22 ] investigated lower limb strengthening for 24 weeks with 66 participants, being MD
(n = 33) and NHMS type I and II (n = 29). Mobility was assessed using the timed test;
6MWT and WOMAC (Western Ontario and McMaster Universities Osteoarthritis Index) functional
subscale. The intervention did not improve the mobility of patients with MD. However,
it was observed to be effective in increasing the natural walking speed of participants
with NHMS.
The mobility outcome was investigated in 30 individuals hospitalized with ALS, using
active music therapy for 4 weeks. The evaluation was done through the ALSFRS-R, which
is a specific scale for the evaluation of the clinical and functional evolution of
ALS, which includes the motor function of the upper and lower extremities during the
activities of daily living. The scale was applied at the beginning and end of the
treatment and after 2 months, where the scale value was maintained.[26 ] Van Groenestijn et al.[28 ] investigated 57 ALS outpatients, comparing aerobic exercise using a cycle ergometer
with usual care over a 16-week intervention. Mobility was assessed by ALSFRS-R (for
global functioning) and TUG (for functional mobility), and the values were maintained
between the intervention and control groups.
Bello-Haas et al.[21 ] investigated the effects of resistance exercises on function, fatigue, and quality
of life through the ALSFRS in 27 ALS patients. The intervention group performed an
individualized home exercise program consisting of daily stretching and resistance
exercises of moderate load and intensity, 3 times a week for 6 months. There was a
significant improvement in the ALSFRS scores compared to individuals receiving usual
care[21 ]
.
A sample of 57 individuals with FSHD received home-based aerobic exercise training
on a bicycle ergometer 3 times per week (n = 20), or individual cognitive behavioural
therapy (n = 13) with an emphasis on fatigue performing intervention 3 times per week.
Control participants (n = 24) underwent usual care. Aerobic exercise and cognitive
behavioural therapy were shown to be effective in increasing the physical activity
level and distance travelled on the 6MWT.[30 ]
In another study with patients with FSHD,[20 ] high-intensity exercise (HIT) on a cycle ergometer for 8 weeks was investigated.
The subjects (n = 13) were evaluated with the 5x sit and stand test, IPAQ, and the
6MWT. The intervention group showed significant improvement in physical conditioning.
The effects of the energetic program on 53 patients with different types of NMD were
investigated for 16 weeks. The program consists of different aerobic exercise modalities,
such as rowing with an ergometer, walking on a treadmill, pedalling on a bicycle ergometer,
associated with physical activity education sessions. The type of exercise was determined
based on each participant's preference and motor skills. The training was divided
into two parts; in the first nine weeks, the participants performed the training 2
times a week, and in the last 7 weeks, the participants performed the training 1 time
a week under the supervision of the physiotherapist, with the intensity adjusted from
50 to 70% of maximum heart rate. During the first three weeks, the individuals received
education about the principles of physical and aerobic training in NMD for 60 minutes.
The mobility of the participants was assessed using the 6MWT. The energetic program
improved the 6MWT distance walked and the social participation of patients with NMD
when compared to the control group, which performed the usual care.[29 ]
A sample of 60 adult individuals diagnosed with NMD investigated individual and client-centred
occupational therapy over a 6-month period. The participating individuals who were
treated with client-centred occupational therapy showed improvements in fatigue and
functional independence as assessed by the FIM and upper limb mobility by the disabilities
arm, shoulder, and hand (DASH).[25 ]
A study with patients diagnosed with NMD who were unable to walk independently for
10 meters without the use of an assistive device assessed the gait function. Thirteen
40-minute sessions of partial weight-bearing walking associated with a lower limb
exoskeleton were compared with a control group that performed only partial weight-bearing
walking. The proposed exoskeleton involved connecting the human nervous system with
a wearable cyborg hybrid assistive limb (HAL) robot. The intervention showed significant
improvement in the distance walked (6MWT) compared to the control group.[23 ]
A total of 30 boys with DMD who were already undergoing conventional physical therapy
underwent cycle ergometer training vs. horizontal treadmill training in order to assess
the functional capacity through the 6MWT. Both groups performed the intervention 3
times a week for 3 months, each session lasting 20 minutes. Patients who received
treadmill training had their aerobic capacity and balance increased to a great extent
compared to those who received cycle ergometer training.[27 ]
Social participation
Social participation was assessed using the COPM, SIP-68, Participation and Autonomy
Impact Questionnaire (IPAC), DM1-Activ-C, and Myotonic Dystrophy Health Index (MDH)
instruments in five studies. It was observed that lower limb strengthening of patients
with MD and NHMS type I and II,[22 ] cognitive behavioral therapy[24 ] for patients with MD1, occupational therapy,[25 ] and aerobic exercise[28 ]
[29 ] for patients with NMD increased the participation of patients with MD, NHMS, ALS,
FSHD, BMD, LGMD, myopathies, and neuropathies.
Communication
Only two of the 12 included studies analyzed communication outcomes. Raglio et al.[26 ] investigated active music therapy (AMT) performed by a music therapist (12 sessions,
30 minutes, 3 times a week) during the hospitalization period of 30 individuals with
ALS. The control group underwent the usual rehabilitation sessions of the service:
physical therapy, speech therapy, occupational therapy, and psychological support.
The communication was evaluated by MTRS for verbal and non-verbal communication. AMT
did not show superior results than conventional treatment for the outcome communication
and reported improvement in aspects of quality of life in the experimental group.[26 ] Okkersen et al.[24 ] investigated 255 individuals with myotonic dystrophy type I submitted to cognitive
behavioral therapy and aerobic exercises. Positive results were evaluated using the
MDHI instrument, indicating improvement in the communication outcome in the intervention
group.
Self-care
The outcome of self-care was evaluated through the SIP-68 in 57 individuals with FSHD1,
submitted to aerobic exercises and cognitive behavioral therapy that was based on
six modules directed to coping with the disease, dysfunctions related to fatigue,
sleep, social support, and social interactions. The intervention was tailored to the
specific needs of each participant, total number of sessions was based on the number
of modules to be addressed, which were identified by the therapist through interviews
and specific tests. All domains (except pain) were positively modified.[30 ]
Evidence overview
The quality of evidence of the RCTs included in this review was assessed using GRADE.
Each of the endpoints was evaluated, and the synthesis of evidence was rated as very
low due to inconsistency and indirect evidence (different types of interventions,
low sample size, and heterogeneous population). All reasons for rating down are reported
in [Table 4 ].
Table 4
Evidence quality for each outcome (GRADE)
Sample size
(Studies)
Evidence quality (GRADE)
Mobility
847
(12 RCT's)
very low2,3
Participation
487
(05 RCT's)
very low1–3
Communication
285
(02 RCT's)
very low1,2,3
Self care
526
(05 RCT's)
very low2,3
Grade of evidence (GRADE)
[34 ]
High: The authors have a lot of confidence that the true effect is similar to the estimated
effect
Moderate: The authors believe that the true effect is probably close to the estimated effect
Low: The true effect might be markedly different from the estimated effect
Very low: The true effect is probably markedly different from the estimated effect
Notes:
1
Study limitations (risk of bias, such as lack of allocation concealment or blinding);
2
Imprecision (wide confidence intervals crossing a decision threshold);
3
Indirectness of evidence (differences in populations, interventions, comparators or
outcomes);
4
Publication bias (missing evidence, typically from studies that show no effect).
DISCUSSION
Our findings indicate that rehabilitation has an impact on activity/participation
outcomes in individuals with NMD. However, these results should be interpreted with
caution due to the limited evidence. While there are studies exploring outcomes aligned
with the ICF Core Sets of Activity/Participation with moderate to good methodological
quality, it is challenging to assert the effectiveness of the interventions in modifying
these outcomes due to the small sample size and heterogeneity of NMD types.
Various interventions were investigated, the most frequent being aerobic exercise
associated or not with cognitive behavioural therapy/health education for patients
with Udd distal myopathy – tibial muscular dystrophy (UDM-TDM), MD1, and ALS. Some
therapies, such as high-intensity exercise, are still controversial in patients with
muscular dystrophy. However, Andersen et al.[20 ] concluded that HIT is safe, applicable, and tolerated by moderately affected patients
with FSHD, a slowly progressing muscular dystrophy.
Considering the health conditions within the NMD group, a few diseases were investigated
in the included RCTs: ALS, MD, FSHD, HMSN, DMD, MG, and spinal muscular atrophy (SMA).
Thus, it is not possible to extrapolate the findings to the entire group of NMD. The
studies did not include the nine proposed domains of activity and participation of
the core sets for individuals with NMD.[2 ] Mobility, social participation, communication, and self-care were assessed in the
studies. No studies were found that specifically evaluated the domains of home life
(d6) and the domains of d7, d8, or d9 alone. In our analysis, the domains of personal
interactions and social, community, and civic life were assessed by COPM and SIP-68
and termed as social participation by the authors. Researchers reported in a systematic
review the limitation of studies focused on participation. However, most evidence
with good quality and large samples studies medical intervention, e.g., drug treatment.[32 ] Cross-sectional studies investigating the participation of patients with NMD have
been conducted with patients with Duchenne and Becker muscular dystrophy. The authors
observed that participation is fundamental to favour social interaction; however,
children with DMD prioritize activities that require less physical effort; thus, they
demonstrate having reduced levels of recreational and social skills and activities.
The non-participation of these individuals leads to a lower quality of life, affecting
healthy aging and developing functional limitations.[12 ]
[33 ]
Studies included in this systematic review present samples of varied ages, from children
with DMD to adults with other types of NMD. Of these, only one RCT[27 ] investigated some intervention in the child population, thus showing the need for
RCTs that have the ICF activity/participation component as an outcome for the child-youth
population.
Aerobic exercise was the most studied intervention aiming at the mobility outcome.
Among the modalities proposed are the use of the cycle ergometer, walking with partial
weight support, and horizontal treadmill. The time of the interventions was short
to medium term, from 04 to 24 weeks of intervention, with a single RCT studying the
follow-up, which observed changes up to 11 months after the intervention.[29 ]
The results of two other systematic reviews conducted by Gianola et al.[8 ] and Voet et al.[5 ] showed that besides knowing about the exercises proposed to individuals with NMD,
it is important to know how to plan their execution[5 ] as well as the duration and intensity of the sessions.[8 ] The available evidence is still uncertain, suggesting that strengthening alone may
have little or no effective response in the treatment. In general, the studies have
small numbers of participants, and new studies with a larger population are needed
since studies involving NMD have lower prevalences.[5 ]
[8 ] Although these two studies investigated the role of exercise in muscular diseases
and had the body structure and function as the endpoint, the characteristic of the
included RCTs confirms the reasons for our observation of low evidence.[5 ]
[8 ]
The outcome of self-care was studied by five randomized clinical trials.[22 ]
[24 ]
[25 ]
[26 ]
[30 ] Among the interventions used, music therapy drew attention, which, in addition to
promoting emotional well-being for the patient, reduced the perception of physical
symptoms. In the group that received music therapy, the authors observed that individuals
with ALS maintained the effects generated by the intervention for a longer period
of time compared to the control group, besides presenting an improvement in the relationship
and communication between the patient and the therapist.[26 ] These findings, although with few participants, demonstrate the usefulness of such
a resource as a form of physical-functional treatment for these individuals with NMD,
thus providing resources that favour the performance of physiotherapy, the comfort,
and evolution of the patient, making possible the effectiveness of protocols, adherence
to treatment, and the interest of the individual in achieving goals.[34 ] Moreover, when dealing with patients who have a progressive health condition, complementary
resources that are accessible and easy to apply can compose the arsenal of rehabilitation
strategies.
It was possible to identify that the measurement instruments used for the activity/participation
outcomes were mostly generic. In order to target the assessment to the specificities
of this NMD population, it is important to identify and use specific instruments.
To our knowledge, this was the first study to synthesize the interventions targeting
the activity and participation of individuals with NMD and to analyze the quality
and level of evidence of previous studies. However, some limitations of this study
require consideration. The NMD group was not entirely included in this review, being
restricted to some conditions, such as muscular dystrophies, ALS, and peripheral neuropathies.
As in other studies with NMD, the sample size is small, with heterogeneity in the
included population, two points that make RCTs difficult to perform.
In conclusion, given the heterogeneity of NMD and the small sample size of the included
studies, the only low-evidence finding in this review is that aerobic training may
improve the mobility of individuals with FSHD. Further randomized clinical trials
with the NMD population are necessary to enhance decision-making on rehabilitation
interventions that can modify activity/participation and address the functional priorities
of this population.
Bibliographical Record
