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s.o. ryabykh et al., 2020
spinal muscular atrophy: clinical features and treatment of spinal and limb deformities
Interstate Consensus Protocol
S.O. Ryabykh, D.M. Savin, E.Yu. Filatov, S.N. Medvedeva, A.N. Tretjakova, D.A. Popkov, T.V. Ryabykh,
E.N. Shchurova, M.S. Saifutdinov
Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, Kurgan, Russia
Objective. To substantiate the protocol for the diagnosis and treatment of deformities of the spine and limbs in patients with spinal muscular atrophy basing on an assessment of the level of evidence of published data.
Material and Methods. Data on foreign protocols and their adaptation for use in Russia and CIS countries were analyzed and summarized. The main platform was the evidence-based systematization of studies reflecting modern approaches to the diagnosis and treatment (including surgery) of spinal and limb deformities in patients with spinal muscular atrophy. The formulated recommendations are based on literature data and the authors' own experience. Literature was searched in online databases of Medline, Embase, Web of Science, and Cochrane Library information platforms. Preference was given to studies that could be classified as evidence level 2+ and higher according to the ASMOK system. References are given in the order of their mention in the text. Search depth was 5 years. Methods used to assess the quality and strength of evidence were expert consensus and significance assessment in accordance with the rating scheme. Methods used to analyze evidence were reviews of published meta-analyzes and systematic reviews with evidence tables.
Results. Various aspects of clinical examination, respiratory support and postural control, conservative and surgical treatment of spinal and limb deformities, preoperative, intraoperative and postoperative management, and anesthetic risk assessment in patients with spinal muscular atrophy are highlighted.
Conclusion. Secondary orthopedic pathology in patients with spinal muscular atrophy causes not only severe violation of the musculoskeletal system functions (support, movement, and verticalization), but also pathological changes in the vital functions of internal organs and systems (respiratory, digestive, cardiovascular). A thorough analysis of the patient's condition (assessment of general somatic, neurological, and orthopedic statuses) based on the data of preoperative multidisciplinary examination allows assessing the risks of complications and developing individual program of surgical rehabilitation of the patient. Surgical correction of orthopedic pathology in spinal muscular atrophy improves the functional status of the patient, improves the quality of life and the level of self-care, and optimizes the function of external respiration.
Key Words: spinal muscular atrophy, spinal deformities, limb deformities, orthopedic syndrome, spine surgery, conservative treatment, surgical treatment.
Please cite this paper as: Ryabykh SO, Savin DM, Filatov EYu, Medvedeva SN, Tretjakova AN, Popkov DA, Ryabykh TV, Shchurova EN, Saifutdinov MS. Spinal muscular atrophy: clinical features and treatment of spinal and limb deformities. Interstate Consensus Protocol. Hir. Pozvonoc. 2020;17(2):79—94. In Russian.
DOI: http://dx.doi.org/10.14531/ss2020.2J9-94
Spinal and limb deformities in patients with spinal muscular atrophy (SMA) should be analyzed on the basis of interdisciplinary assessment of the prognosis, management, and treatment of patients. SMA is a group of disorders requiring various approaches to patient care and involvement of a wide range of specialists (Fig. 1). The literature focuses on the fact that coordination of the interdisciplinary approach is usually performed by a neurologist or pediatric
neurologist who is aware of the disease course and potential problems. This enables control of various aspects of the patient's condition, which lead to progression of the disease, and preventive care when possible [1-4].
The purpose of this study was to substantiate the protocol for diagnosis and treatment of spinal and limb deformities in SMA patients based on assessment of the evidence level of published data.
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Design
Methods used for collection/selection of evidence included search in electronic databases. Preference was given to publications that might be classified as evidence level 2+ and higher according to the ASMOK system. References are given in the order of their mention in the text.
Description of the methods used to assess the quality and strength of evi-
dence: the evidence base for recommendations was publications included in the Medline, Embase, Web of Science, and Cochrane Library. The search depth was 5 years.
Methods used to assess the quality and strength of evidence:
- consensus of experts;
- assessment of significance in accordance with the rating scheme (the scheme is supplied).
Methods used to analyze evidence:
- reviews of published meta-analyzes;
- systematic reviews with tables of evidence.
Description of the methods used to analyze evidence: upon selection of publications as potential sources of evidence, the technique used in each study was analyzed separately to assess its validity. The result of this analysis affected the evidence level assigned to the publication, which in turn influenced the strength of the recommendations. To minimize potential errors, each study was evaluated independently. Any differences in assessments were discussed by all members of the working group. If consensus was not reached, an independent expert was involved.
Tables of evidence were filled in by the authors of the consensus (Tables 1, 2); all information was graded by the level of reliability/evidence (Table 1) depending on the quantity and quality of studies on a particular issue.
Methods used to assess the quality and strength of evidence:
- consensus of experts;
- assessment of the evidence level in accordance with the rating scheme.
Good Practice Points (GPPs): the recommended good practice is based on clinical experience of the authors of the developed recommendations.
Economic analysis: no cost analysis was performed, and no publications on pharmacoeconomics were analyzed.
Guidelines validation method: external expert evaluation; internal expert evaluation.
Description of the guidelines validation method. A draft of these guidelines was reviewed by independent experts who were first of all asked to comment
on how understandable is the interpretation of the evidence underlying the guidelines. All comments of experts were carefully systematized and discussed by working group members (guidelines' authors). Each item was discussed separately.
Consultation and expert assessment. The draft guidelines were reviewed by independent experts who were first asked to comment on the intelligibility and accuracy of the interpretation of the evidence base underlying the recommendations.
Working group. For the final revision and quality control, the guidelines were re-analyzed by working group members who came to the conclusion that all expert comments and suggestions were taken into account, and the risk of systematic errors during development of the guidelines was minimized.
Key recommendations. The grades (strength) of recommendations (Table 2) based on the appropriate levels of evidence are given in the References at the end of each citation.
Clinical Examination
Assessment of the SMA patient involves a physical examination with allowance for functional disorders of the musculo-skeletal system. A set of assessment methods is determined by relevant aspects for each severity degree. Examinations of SMA patients should include various methods of assessing muscle strength and amplitude of joint movements, motor functional scales, and time tests to monitor functions and activities in everyday life [5-9] (Table 3).
Scoliosis is a typical orthopedic manifestation of SMA type 1, 2, and 3. The incidence rate is 60-90 % with onset in early childhood [2, 10]. The spinal curvature in children with reduced muscle tone continuously progresses throughout childhood. Also, most patients develop thoracic spine hyperkyphosis of varying severity. The spine should be examined as part of a routine clinical examination. If kyphoscoliosis is suspected, an examination in a standing or sitting position and in the Adams position (for-
ward bending) is required. In the presence of spinal deformity, radiographs of the spine are performed in the frontal (anteroposterior) and lateral projections in the most possible vertical position of the patient achieved independently of assistive devices (i.e., in a sitting position in children who can sit on their own and in a standing position in SMA type 3) to quantify the degree of spinal deformity in both the frontal and sagittal planes.
In patients with SMA type 1 and 2 and scoliosis and with a Cobb angle of more than 20°, examination should be performed every 6 months until the end of growth (Risser IV or more) and then, after full skeleton development, annually.
Commentary. Recommended examinations should be performed by specialists regularly every 6 months or more often in the case of certain indications (new clinical signs of pathology and worsening of the condition). In this case, the frequency of examinations should be determined by a dedicated expert or a multidisciplinary team.
Regular monitoring enables detection of possible changes and timely definition of indications for corset therapy or surgery with allowance for the therapeutic and age corridor, as well as monitoring of their result [11, 12].
Methods of Physical Examination
Physical examination of SMA patients should be performed taking into account functional disorders of the musculoskeletal system:
- muscle strength tests;
- identification of limb contractures;
- analysis of the frontal and sagittal balance of the spine with assessment of C7 deviation from the central sacral vertical line (CSVL) and posterior sacral vertical line (PSVL);
- traction test for assessing spinal mobility;
- X-ray and clinical analysis of the pelvic position in the sagittal and frontal projections;
- control of the pain intensity (if present) using VAS;
- determination of BMI (body mass index).
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Methods of Instrumental Examination
Radiographic examination should include all spinal departments (cervical, thoracic, and lumbar) with involvement of the pelvis and hip joints in the
frontal and lateral projections in a sitting (in patients verticalized in the sitting position) or lying (in non-verticalized patients) position. X-ray telemetry of the spine is optimal. Radiography should be performed each year if the spinal
curvature is less than 15-20°, and every 6 months if the deformity is more than 20°, until skeleton maturation (Risser I—III). An increase in the time interval between radiographies over 1 year may lead to missing progression of scoliosis. After skeleton maturation, the decision on radiography is made on the basis of clinical assessment of the patient's functional state.
Before surgery, CT of the cervical, thoracic, and lumbar spine is performed; MRI is carried out if signs of myelopathy are present.
Echocardiography is performed if indicated as well as when preparing for surgery.
Nocturnal pulse oximetry or cardio-respiratory monitoring is performed if indicated as well as when preparing for surgery.
ECG is performed as part of preop-erative examination and identification of indications for cardiotropic therapy.
A pulmonary function test and osteodensitometry are performed according to similar indications as well as to identify indications for therapy.
Conservative Treatment
Rehabilitation of mobile patients (ambulatory stage)
The main tasks of rehabilitation of patients at the ambulatory stage are to restore, improve, or maintain mobility function, a sufficient range of motion in the limb joints, as well as improving balance and endurance.
Exercise/physical activity programs. Physical activity programs should include dynamic and static exercises for balance. Swimming, walking, cycling, yoga, hippo-therapy, rowing, aerobics exercises, and general developmental workouts are recommended. The exercise program should be developed and supervised by a physical therapy specialist or occupational therapist with competencies in SMA. The optimal duration of aerobics exercises is at least 30 min.
Orthosis/prevention of contractures is aimed at maintaining activity and preventing the formation of contractures. Tactically, this is achieved via combina-
Fig. 1
Diagram of an interdisciplinary approach to assessing the status of patients with spinal muscular atrophy (SMA) [3]
Table 1 Levels of evidence
Level of evidence Data type
Meta-analysis of randomized controlled trials
1b At least one randomized controlled trial
2а At least one well-performed controlled non-randomized trial
2b At least one well-performed quasi-experimental study
3 Well-performed non-experimental studies: comparative, correlation, or case control
4 Expert consensus opinion or clinical experience
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Table 2 Strength of recommendations
Grade Level of evidence Basis of recommendation
А High Large double-blind, placebo-controlled trials as well as data obtained from meta-analysis of several randomized controlled trials (evidence level I)
В Moderate Small randomized and controlled trials where statistics are based on a small number of patients (evidence levels I, II)
C Low Non-randomized clinical trials in a limited number of patients (evidence level IV or extrapolation of data from studies of levels II and III)
D Very low Consensus of an expert group on a particular problem (evidence level V; either unapproved or inconclusive trial of any level)
Levels of evidence and strength of recommendations are presented in references at the end of each citation.
tion of redressement and orthosis techniques. The minimum stretching frequency is 2-3 times a week, the optimal frequency is 3-5 times a week. AFO and KAFo orthoses of the lower limbs are mainly used. TLSO corsets are usually used to improve sitting position and are not used during walking because they can adversely affect mobility and limit effective compensatory abilities.
Positioning. Spinal orthoses are often used to support weakened muscle tone of the spine and to treat scoliosis of more than 20°, especially in children in a growth spurt [13, 14].
Commentary. There is currently no consensus regarding the type of orthosis that should be used in this category of patients. Both rigid and soft spinal tho-racolumbar orthoses with an abdominal window are recommended.
Mobility devices and exercises. If endurance of patients is restricted, it is recommended to use lightweight manual wheelchairs or power wheelchairs to ensure mobility. For traveling independently over long distances, power wheelchairs or motorized scooters may be considered.
Rehabilitation of patients verticalized in a sitting position (early nonambulatory stage)
The main objectives of rehabilitation in sitting patients (early nonambulatory stage) are prevention of contrac-
tures and scoliosis, maintenance, restoration, and improvement of functions and mobility [3].
Prevention of contractures and control of range of motion. Stretching techniques include methods that can be achieved manually and using active auxiliary stretching, various verticaliz-ers, orthoses, and staged gypsum casting techniques. Stretching procedures should be performed and/or supervised by a physical fitness specialist or occupational therapist. Parents and nurses should also be instructed about application of these methods in everyday life. The focus should be placed on the joints that are most at risk of contractures: hip, knee, ulnar, and carpal joints. The minimum frequency of exercise is 5-7 times a week.
Orthosis/positioning. Thoracolumbo-sacral orthoses (TLSO) are recommended for improving posture and function. Neck immobilization should be used to ensure transportation safety. Orthoses should be removed 60 min before bedtime. The minimum frequency of ortho-sis use is 5 times a week.
The use of various verticalizers is recommended for static axial load, prevention of contractures of the lower limbs, improvement of the spine and whole body posture, improvement of body functions, and preservation of bone density. The maintained vertical position of
the patient should be no longer than 60 min, the minimum execution frequency is 3-5 times a week, and the optimal frequency is 5-7 times a week. To maintain posture and standing ability, knee immo-bilizers, KAFO, AFO, TLSO, and arm splinters are recommended.
Mobility devices and exercises. All patients who can be verticalized only in a sitting position should have power wheelchairs or a customized chair to maintain posture (like a turtle). In patients after two years of age, the use of power wheelchairs should be assessed [15]. If the patient has preserved the function of the upper limbs and sufficient muscle strength, lightweight manual wheelchairs or power wheelchairs may be recommended to stimulate independent movement.
Commentary. For rehabilitation of patients verticalized in a sitting position, water procedures, aerobic training, concentric and eccentric exercises, and general training with and without resistance are recommended.
Manual techniques. Manual techniques involving changes in the body position, percussion massage, and vibration are important for patients, especially with SMA type 2, as they facilitate drainage of the respiratory tract. This is necessary for prevention of complications, especially in the perioperative period.
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Table 3 (the ending is on page 84)
Rehabilitation evaluation and procedures recommended for patients with spinal muscular atrophy (SMA) [3]
Medical intervention
Care recommendations
Non-verticalized (bed) Postural monitoring; Postural control and orthosis. patients: late non- scoliosis; hip lability; Daily use of devices for sitting, supporting, and
ambulatory stage ability to sit; chest maintaining posture, chest braces and neck braces to
deformity support the head.
Static chest fixation for respiratory support with an abdominal window. Surgical correction of spinal deformities
For effective use of orthoses, they should be removed 60 min before bedtime.
The duration of training for effective stretching and increasing the range of motion depends on specific needs of the patient, condition of the joints, and goals of rehabilitation
Contractures (goniometry, ROM)
Stretching.
Daily use of orthoses for the upper limbs for stretching and preserving function and range of motion. Static orthoses. To maintain posture and stretching, it is recommended to use knee braces and arm splints. AFO, KAFO, and HKAFO orthoses can be used to stretch and support posture, TLSO — to support posture. Standing support. WHFO orthoses are recommended for control of the hand position. As an option, surgical correction of limb deformities can be performed
The minimum frequency of exercises for stretching and increasing range of motion is 3—5 times a week. The minimum frequency of effective orthosis use is 5 times a week
Muscle weakness (movement against gravity); functional scales (CHOPINTEND); motor development (HINE)
Improving functions and mobility. Use of devices for sitting and mobility. Mobile shoulder supports are used to support the upper limb function
Toys with switches, light rattles, bath equipment, adapted beds, auxiliary devices for the upper limbs and lifts (elevators), environmental monitoring and eye movement recording devices for computers and communications, strollers with a hinged roof and power chairs, flat-lying/inclined adapted seats
Patients verticalized in a sitting position (sitting): early non-ambulatory stage
Postural control; foot and chest deformities; scoliosis and pelvic obliquity; hip lability
Positioning and orthosis.
Chest fixation is recommended to maintain posture and improve functions. Neck fixation is often used to support the head for safety and transportation. As an option, surgical correction of spinal deformity can be performed
Orthoses should be removed 60 min before bedtime. The minimum frequency of orthosis use is 5 times a week
Contractures (ROM, goniometry)
Stretching.
Orthoses are used for the upper and lower limbs to improve function and ROM. Regular exercises to preserve the range of motion of the joints that are most at risk of contractures: hip, knee, ankle, elbow, and carpal joints. To maintain posture and ability to stand, it is recommended to use KAFO and AFO orthoses. RGO and KAFO can be used in patients capable of walking. TLSO and arm splints are used to maintain posture. As an option, surgical correction of limb deformities can be performed
The minimum frequency of stretching and ROM exercises is 5—7 times a week. During stretching or joint exercises, joint alignment should be ensured. Supported standing position should last up to 60 min; the minimum frequency is 3—5 times a week; the optimal frequency is 5—7 times a week
Patients
Evaluation
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Table 3 (the beginning is on page 83)
Patients verticalized in a sitting position (sitting): early nonambulatory stage
Patients capable of independent walking: ambulatory stage
Functional scales (HFMSE, RULM, MFM);
muscle weakness (strength tests)
Mobility;
time tests; endurance assessment (6MWT); falls; functional scales (HFMSE, RULM); muscle weakness (strength tests)
Contractures (ROM, goniometry)
Postural control; scoliosis; hip joint lability
Improving function and mobility.
Use of devices for sitting and mobility.
Use of devices for movement learning and mobility
in patients capable of independent walking.
Shoulders devices to support upper limb function
Improving functional activity and mobility
Stretching
Positioning and orthosis
Exercises can effectively affect function, strength, ROM, endurance, ADL, participation, and balance
Swimming, hippotherapy, and sports in wheelchairs. Sitting patients should be provided with power wheelchairs, individual posture support devices, and seating devices.
Verticalizers should be provided for patients with weak
strength of the shoulder girdle muscles.
Lightweight manual wheelchairs are ideal for stimulating
independent movement of patients with satisfactory
strength of the shoulder girdle muscles.
Exercises for aerobics and general developmental exercises
for walking SMA patients.
Options include swimming, walking, cycling, yoga, hippotherapy, rowing, elliptical/cross trainers. The exercise program should be designed and supervised by a physical therapy specialist or occupational therapist familiar with SMA. The optimal duration of aerobic exercises is at least 30 min
The minimum frequency is 2—3 times a week; the optimal frequency is 3—5 times a week. Flexibility is maintained through active stretching and the use of orthoses in accordance with the specific needs Balance exercises.
TSLO orthoses are used to improve posture in a sitting position. KAFO orthoses are used to maintain the function and range of motion in the lower limb joints
ROM — range of motion; CHOPINTEND — Children Hospital of Philadelphia Infant Test of Neuromuscular Disorders; HINE — Hammersmith Infant Neurological Examination; AFO — ankle foot orthosis; KAFO — knee ankle foot orthosis; HKAFO — hip knee ankle foot orthosis;
TLSO — thoracolumbosacral orthosis; WHFO — wrist hand finger orthosis; HFMSE — Hammersmith Function Motor Scale Expanded; RULM — Revised Upper Limb Module; MFM — motor function measure; 6MWT — 6 minute walk test; ADL — activities of daily living.
Rehabilitation oof non-verticalized patients (late non-ambulatory stage)
Primary goals of rehabilitation of non-verticalized patients (late nonambulatory stage) include maintaining the possibility of verticalization with control of the body position and control of orthopedic disorders and prevention of their progression.
Prevention of contractures and control of range of motion/orthosis. Retraction of the muscles of the axial skeleton and limbs includes the use of orthoses, splints, active or passive positioning in verticalizers and in the supine position, and, less often, staged gypsum casting techniques. Upon verticalization, the use of TLSO corsets, KAFO splints for the lower limbs, or individual HKAFO sys-
tems for verticalization is recommended. Fixation of the neck with a Shants collar is often used in an upright position to minimize the risk of asphyxia and to control the head. Orthoses for the upper (WHFO) and lower (KAFO, HKAFO) limbs are used to stimulate functional activity, control, and/or expand the range of motion. For the effective use of
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orthoses, they should be removed 60 min before bedtime.
Positioning. Systems for seating and orthostatic support should include all aspects of maintaining a normal sitting position: rollers, molded pillows, and supports. Individual and molded wheelchairs as well as individual sleeping systems are recommended. For mobility and transportation, wheelchairs and hardware wheelchairs with a falling/tilting back, adapted seats, and neck braces to support the head may be daily used. TLSO corsets with an abdominal window are recommended for respiratory support.
Physical exercises. To improve various functions of the patient, the use of auxiliary and adaptive equipment is recommended. To improve communication, devices monitoring eye movements may be used. Some bed patients can safely take water procedures with appropriate support for the head and neck and constant monitoring.
Percussion massage of the chest, along with passive excursion by an Ambu bag, is an important part of treatment. This technique is especially important during respiratory infection and the perioperative period to prevent respiratory failure and improve lung ventilation. Manual methods include percussion, vibration, and repositioning, which promotes postural drainage.
Surgical Treatment
Until the last decade, due to a low survival rate of patients with late non-ambulatory SMA, surgical correction of spinal and limb deformities has rarely been discussed as a possible treatment option in these patients. Patients with stable performance status, primarily respiratory one, were rare exception [1, 16]. The only options to treat the deformity were individual rigid orthopedic corsets and orthoses to support the sitting position of the trunk, provided that they do not impair pulmonary function (Fig. 2) [3].
The starting point for observing the course of spinal deformity is the Cobb angle value in a sitting position [16]. If corsets are used, X-ray of the spine is
performed in a direct projection while sitting in a corset and without a brace.
Orthosis is a palliative method; it does not stop progression of the spinal deformity [14, 19], does not facilitate the use of technical rehabilitation equipment, and does not improve the quality of life [1924]. Evaluation of the results of surgical correction of spinal curvature in SMA patients led to changes in the rehabilitation protocol in this nosological group [17, 18].
Spinal and chest deformities. Kypho-scoliosis is the most typical variant of spinal deformity in SMA. The decision on spinal surgery is based on key indications for surgical correction: a Cobb angle in the frontal plane of >50°; hyperkypho-sis of >50° or deviation of >20° from the upper boundary of the age profile in the sagittal plane with deviation from PSVL; an annual progression rate of >10°. Other factors should also be considered: impaired respiratory function, chest deformity, and a twisted pelvis with imbalance of the body. External respiration function should be evaluated in advance to determine surgical risk and postoperative respiratory support.
However, there are a number of limitations to surgical treatment: BMI <12, marked osteopenia (Z criterion <-3 SD), and decompensation of respiratory and cardiac functions. These factors require active treatment by dedicated specialists with condition monitoring. The main focus in these situations in rehabilitation should be on postural control (braces and personalized wheelchairs), pain control, and nutritional support.
There was intra-rater agreement, but with a low level of evidence, that surgical treatment of spinal deformity should be delayed until patients reach 4 years of age under orthosis support [3].
In the case of an immature skeleton (Risser I-III) in patients aged 8 to 10 years, preference is given to dynamic systems for correcting and controlling scoliosis during growth [1, 19, 21, 25—28]. Currently, magnetically-controlled growing rods are more actively used as an alternative to traditional extendable rods requiring staged surgical extensions. However, the rate of compli-
cations requiring revision interventions amounts to 45 % [29-32].
For children aged 8 to 12 years, there is no single inter-rater agreement on a tactical approach. Correction techniques (dynamic systems or multi-support fixation) depended on the deformity value, growth rate of the spine and progression, maturity of the axial skeleton, and clinical data, in particular in terms of BMI, respiratory status, and pain [1, 19, 21, 25-32] (Fig. 2).
Deformity correction using polyseg-mental devices is indicated for patients older than 12 years of age and/or with Risser >IV. Pelvic fixation is recommended for patients with a non-ambulatory stage (SMA type 1, 2) or a twisted pelvis. This option is debatable in patients with an ambulatory stage (SMA type 3); the decision is based on the presence of a twisted pelvis relative to the cranial end plate of L5 [33].
Commentary. In cases of severe spinal deformities in patients with low BMI and hypotrophy, monolateral dual rod fixation through a minimally invasive approach may be considered as an alternative technique (prognostically for vital indications).
Intraoperative neuromonitoring (IONM) of the conducting structures of the spinal cord is recommended in patients with neuromuscular diseases regardless of the motor status to reduce the risk of traction radiculopathy and sensorimotor disorders [34-36].
Commentary. In the absence of published studies on the use of an intrathe-cal approach for injection of recently approved drugs (nusinersen) in SMA patients after spinal surgery, the decision on administration is made individually by a multidisciplinary team involving a spinal surgeon. The issue of choosing a dynamic system and the age of final instrumentation and fusion is also decided individually.
Chest deformity, thoracic insufficiency syndrome. Chest muscle hypotrophy in children with SMA leads to the formation of bell-shaped chest hypotrophy with thoracic insufficiency syndrome [19, 22, 23, 37-39]. Often this syndrome exacerbates spinal deformity and the rate of
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its progression [19]. The most effective method for controlling chest hypotro-phy is gymnastics with an Ambu bag [3, 4]. A retrospective study of children with thoracic insufficiency syndrome associated with scoliosis who were treated by dynamic systems (growing rods, VEPTR) showed a low efficiency in the treatment of rib deformities and enlargement of the chest volume; therefore, these methods are not recommended in this syndrome [37].
Hip joint instability. This syndrome is common in SMA patients [1, 19, 24, 40]. Earlier studies (2003-2012) did not recommend surgery. These studies demonstrated that recurrent subluxations or dislocations occurred during postoperative treatment despite the fact that this pathology was initially rarely accompanied by pain [1, 19, 24, 40]. In later studies, surgical treatment for unilateral and bilateral instability of the hip joint is recommended only in patients with severe pain [3].
Commentary. An indication for surgical correction of unilateral and bilateral instability of the hip joint in SMA patients is severe pain and, more rarely, the presence of functionally unfavorable contractures that prevent verticalization of the patient in a sitting position.
Limb joint contractures. Most reports describing the surgical approach to treatment of patients with pathology of the limbs in SMA are based on the personal clinical experience of specialists. In SMA patients, joint contractures develop due to imbalance of antagonist-agonist muscles, prolonged static position, and reduced range of motion [19, 41, 42]. Functionally and symptomatically, contractures can lead to pain and limited verticalization in patients with neuro-muscular diseases in general [42-46] and SMA in particular [1, 15, 41, 47-53]. The need for surgical treatment of limb contractures should be considered if they facilitate the development of pain and a decrease in the patient's functional capabilities.
Surgical correction is aimed at eliminating contractures of the joints (hip, knee, ankle), improving the patient's positioning, and preserving the possibil-
ity of patient's verticalization and mobility, which is an important component of social rehabilitation. Also, it should be remembered that orthopedic correction of lower limb pathology in a complex treatment and rehabilitation process may reduce the risk of spinal deformities or reduce a progression rate of the existing deformity. If the foot is deformed, a separate relative indication is the inability to use standard shoes [3, 15].
Commentary. An important aspect is the understanding of the purpose of surgery, its outcome, and its risks by patients and their official representatives. Methods of surgical correction of orthopedic pathology, which are used in the treatment of patients with neuromuscular diseases, are as follows:
- various types of osteosynthesis for single-stage intraoperative correction; the use of internal (plates with angular stability, threaded wires, screws) osteosynthesis is recommended, which ensures primary stability of bone fragments and early axial load and reduces the duration of additional external immobilization;
- corrective surgery on limb bones (detorsion-varus osteotomy of the proximal femur, acetabuloplasty to eliminate hip dislocation, corrective foot osteotomy, femoral supracondylar extension osteotomy/resection for simultaneous extension of the leg, etc.);
- tendon-muscle repair/releases (lengthening of the knee flexor tendons and fascia lata, tenomyotomy of the hip joint flexors, achillotomy, transplantation of the tibial muscles, etc.).
In the postoperative period, comprehensive rehabilitation is required, including conservative treatment and orthosis of the limbs [48, 53].
Anesthesiological Risks
Management of SMA patients by an intensivist. Assessment of syndromic status and perioperative risks. Various surgical interventions (surgical treatment of limb joint contractures, spinal surgery, acute surgical pathology and trauma, muscle tissue biopsy, gastrostomy, etc.) should be performed after detailed planning
and analysis of the risks of possible complications.
During and after general anesthesia, SMA patients are at increased risk of muscle weakness, local and generalized muscle spasms, rhabdomyolysis, cardiovascular and respiratory disorders, malignant hyperthermia and hypothermia, and hyperkalemia. Also, these patients are at increased risk of early and long-term postoperative respiratory complications: acute respiratory failure, nosocomial and healthcare-associated infections, obstruction of the upper respiratory tract, difficult evacuation of airway secretions, hypoventilation, and lung atelectasis in the setting of a baseline high risk of prolonged forced respiratory care, late tracheal extubation, or even tracheotomy [54-57].
Physical examination methods. Apart from monitoring of the described conditions, control of changes in the neurological status of SMA patients is also important in the perioperative period.
Commentary. Identification of the SMA type is important for assessing and predicting anesthetic and surgical risks; therefore, preoperative analysis of the patient's condition should include assessment of the neurological status and disease progression degree [57].
Instrumental diagnostics. Preoperative assessment of the respiratory function is recommended with assessment of the risk of respiratory complications (evacuation of airway secretions, hypoventilation, aspiration, obstructive and central apnea). Underestimation of these conditions may lead to severe complications (infections, prolonged mechanical ventilation, tracheotomy) and even death.
Commentary. Assessment of the respiratory function should include taking of a detailed history and physical examination, assessment of the respiratory function and effectiveness of cough, sleep-associated respiratory disorders, and chest X-ray [57, 58].
Assessment of the respiratory function includes measurement of the vital capacity and daily pulse oxime-try (SpO2). SpO2 of less than 95 % in atmospheric air is defined as a clini-
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cally significant pathological value that requires additional assessment of the carbon dioxide partial stress. Respiratory failure is the most common cause of death [61].
Instrumental diagnostics in SMA patients should include:
- ECG monitoring, echocardiography; MRI and Holter monitoring of ECG and blood pressure (BP) before anesthesia or sedation are considered as additional options for analysis of cardiac dysfunction (various conduction blockades, myocardial hypertrophy, arrhythmias) for implementation of cardiotropic therapy [57, 58];
- daily monitoring of respiratory function and saturation [59];
- supervising cardiologist possessing necessary competencies in cardiac aspects of neuromuscular diseases [57, 58];
- intraoperative monitoring of motor evoked potentials, consistent with the Harvard standards, for control of neuro-muscular conduction [60].
Preoperative Management
All patients admitted for surgical treatment should undergo preoperative preparation.
First of all, assessment of the expiratory reserve volume is necessary. This indicator is analyzed using X-ray or CT of the chest organs, spirometry, assessment of the peak cough rate, nocturnal pulse oximetry, and cardiorespiratory monitoring. Also, consultation of a pulmonologist trained in respiratory support is needed. If the expiratory reserve volume is limited, perioperative non-invasive ventilation of the lungs and manual and instrumental methods of stimulating and facilitating coughing (Ambu bag, cough assist machine) are necessary. This is more important for preparation of patients of the late non-ambulatory stage [57, 62, 63]. Assessment of the patient's cardiac activity should be performed at least 2 months before surgical treatment. In patients with impaired cardiac function, prescription and efficacy control of cardiotropic therapy are necessary before
surgery. Administration of cardioprotective drugs can be started since the age of 10 years. Consultation with a nutritionist and optimization of the nutritional status are necessary [63]. Assessment of the bone mineral density is also needed. If osteopenia is verified, X-ray absorption densitometry (dual-energy X-ray absorptiometry (DEXA)) and consultation with an endocrinologist or osteologist are required. If osteopenia is detected, correction is necessary.
Premedication should exclude the use of drugs that can cause respiratory depression and hypoventilation of the lungs [57]; tracheal intubation should be performed according to the protocol for difficult airway management [57]. In cases of prolonged steroid therapy, the introduction of a stress dose of steroids should be considered during surgery [64, 65]. The central venous approach should be performed under ultrasound monitoring [66, 67]. Body temperature should be maintained at a normal level [68].
General Principles of Intraoperative Management of Patients with Neuromuscular Diseases
The management protocol is described in the Federal Clinical Guidelines "Perioperative management of patients with neuromuscular diseases" of the All-Russian Public Organization "Federation of Anesthesiologists and Resuscitators" [55].
Commentary. Anticholinesterase drugs are not recommended because of an unpredictable response to neostig-mine. If possible, inhalation anesthesia should be avoided. Premedication with drugs that depress the respiratory center (opioids, benzodiazepines) is not recommended. Minimization of blood loss and surgery duration plays an important role.
Postoperative Management of Patients with Neuromuscular Diseases
In the postoperative period, all patients, regardless of the surgery amount and duration of anesthesia, should be observed in a critical and intensive care department [63].
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Commentary. The capabilities of a critical and intensive care department enable comprehensive cardiovascular and respiratory monitoring, multicom-ponent therapy including non-invasive ventilation, and the use of devices facilitating coughing or aspiration of airway secretions.
Adequate analgesia is an essential component of treatment in the postoperative period. Doses should be adjusted to minimize inhibition of the respiratory centers. Preference should be given to multimodal anesthesia methods, with epidural anesthesia being a basic component.
Commentary. Timely prevention and relief of pain prevents secondary hypoventilation of the lungs due to muscle stiffness after thoracic surgery and surgical interventions on the upper abdominal cavity or spine. The dose of administered opioids should provide adequate analgesia, but not inhibit the cough reflex and spontaneous breathing.
In the postoperative period, disconnection from the respirator and tracheal extubation should be performed according to the protocols used in critical and intensive care departments for critical patients with mandatory CO2 control. Also, there may be the need for prolonged mechanical ventilation after surgery and, in some cases, the likelihood of tracheostomy. Extubation and switch to non-invasive ventilation of the lungs (NIVL) should always be considered as an intermediate period before returning to the preoperative complex of respiratory support.
Stagnation of bronchopulmonary secretions, hypoventilation, and atel-ectasis can cause hypoxemia after surgery, so additional oxygenation should be performed carefully. First of all, it is necessary to exclude its typical causes; if they are present, initiate directed therapy. The use of oxygen is recommend-
ed only under NIVL and control of the acid-base state [1, 57, 69-72].
Prokinetics and gastric decompression through a thin nasogastric tube should be used to prevent intestinal motility disorders in the postoperative period. Nutritional support of the patient should also be considered.
Timely prescription of H2 blockers is required to prevent regurgitation and aspiration.
Commentary. Tracheal extubation should be performed under full control over bronchial secretion and upon achieving normal or borderline SpO2 values in atmospheric air or in the presence of NIVL. At high risk of respiratory complications, combination of non-invasive pulmonary ventilation and cough stimulation is recommended.
Conclusion
In SMA patients, spinal and lower limb deformities are a frequent manifestation of the natural course of the underlying disease. Autochthonous progressive scoliosis is often combined with chest and limb deformities, contractures, and joint dislocations. Developing secondary orthopedic pathology causes not only gross dysfunctions of the musculoskel-etal system (support, movement, and verticalization) but also pathological changes in the vital functions of internal organs and systems (respiratory, digestive, cardiovascular). For this reason, thorough analysis of the patient's condition is necessary (assessment of somatic, neurological, and orthopedic status). This is achieved via detailed pre-operative multidisciplinary examination to asses the risks of complications and develop the treatment protocol and recommendations individually for each patient.
However, serious complications in SMA patients often develop in the peri-and postoperative periods; therefore, for prevention and treatment of dysfunctions in these patients, a system based
on cardiorespiratory support techniques is required, recommended protocols of anesthesia and intensive care should be used, and adequate postoperative management and condition control should be performed.
Surgical correction of orthopedic pathology in SMA improves the performance status of the patient, improves the quality of life and self-care level, and optimizes the external respiration function.
Acknowledgment
The authors are grateful to the working group members who participated in a preliminary discussion of the draft consensus: O. G. Prudnikova, DMSc; P.V. Ochirova, MD, PhD; S.S. Leonchuk, MD, PhD; M.A. Akhmedova (Kurgan, Russia); S.V. Kolesov, DMSc, Prof.; A.V. Gubin, DMSc; A.N. Baklanov, DMSc; ¡.A. Shavyrin, MD, PhD; D.I. Okhapkin (Moscow, Russia); E.V. Ulrich, DMSc, Prof.; A.Yu. Mushkin, DMSc, Prof.; V.M. Kenis, DMSc; A.P. Afanas'ev, MD, PhD; ¡.A. Komolkin, MD, PhD; D.G. Naumov, MD, PhD (St. Petersburg, Russia); M.V. Mikhaylovsky, DMSc, Prof.; D.A. Rzaev, DMSc; V.S. Klimov, MD, PhD; I.I. Vasilenko (Novosibirsk, Russia); V.A. Byval'tsev, DMSc, Prof.; A.A. Kalinin, MD, PhD (Irkutsk, Russia); A.R. Syundyukova, MD, PhD (Cheboksary, Russia); A.P. Drozdetsky, MD, PhD (Smolensk, Russia); G.B. Vol'skiy (Tyumen, Russia); D.K. Tesakova, MD, PhD (Minsk, Republic of Belarus); B.A. Nagymanov, MD, PhD (Nur-Sultan, Kazakhstan); M.Zh. Azizov, DMSc, Prof.; I.Yu. Khodzhanov, DMSc, Prof.; I.E. Khuzhanazarov, DMSc (Tashkent, Uzbekistan).
The study was performed under the protocol "CHIldren with neuromuscular diseases - efficacy eVALuation of spinal deformity surgeRY via different pedicle screw fixation systems study -CHIVALRY study" with sponsorship of Medtronic. The study is registered on the platform www. clinicaltrials.gov.
The authors declare no conflict of interest.
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References
1. Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, Aloysius A, Morrison L, Main M, Crawford TO, Trela A. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22:1027-1049. DOI: 10.1177/0883073807305788. 4C.
2. Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol. 2012;11:443-452. DOI: 10.1016/S1474-4422(12)70061-3. 4C.
3. Mercuri E. Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Maz-zone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disord. 2018;28:103-115. DOI: 10.1016/j. nmd.2017.11.005. 2aA.
4. Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T. 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. DOI: 10.1016/j. nmd.2017.11.004. 2aA.
5. Glanzman AM, Mazzone E, Main M, Pelliccioni M, Wood J, Swoboda KJ, Scott C, Pane M, Messina S, Bertini E, Mercuri E, Finkel RS. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability. Neuromuscul Disord. 2010;20:155-161. DOI: 10.1016/j. nmd.2009.11.014. 4C.
6. Mazzone E, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Stein S, De Sanctis R, D'Amico A, Palermo C, Fanelli L, Scoto MC, May-hew A, Eagle M, Vigo M, Febrer A, Korinthenberg R, de Visser M, Bushby K, Muntoni F, Goemans N, Sormani MP, Bertini E, Pane M, Mercuri E. Six minute walk test in type III spinal muscular atrophy: a 12 month longitudinal study. Neuromuscul Disord. 2013;23:624-628. DOI: 10.1016/j.nmd.2013.06.001. 4C.
7. Mazzone E, Bianco F, Martinelli D, Glanzman AM, Messina S, De Sanctis R, Main M, Eagle M, Florence J, Krosschell K, Vasco G, Pelliccioni M, Lombardo M, Pane M, Finkel R, Muntoni F, Bertini E, Mercuri E. Assessing upper limb function in nonambulant CMA patients: development of a new module. Neuromuscul Disord. 2011; 21:406-412. DOI: 10.1016/j.nmd.2011.02.014. 4C.
8. Vuillerot C, Payan C, Iwaz J, Ecochard R, Berard C. Responsiveness of the motor function measure in patients with spinal muscular atrophy. Arch Phys Med Rehabil. 2013;94:1555-1561. DOI: 10.1016/j.apmr.2013.01.014. 4C.
9. Montes J, McDermott MP, Martens WB, Dunaway S, Glanzman AM, Riley S, Quigley J, Montgomery MJ, Sproule D, Tawil R, Chung WK, Darras BT, De Vivo DC, Kaufmann P, Finkel RS. Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. Neurology. 2010;74:833-838. DOI: 10.1212/ WNL.0b013e3181d3e308. 3D.
10. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120-2133. DOI: 10.1016/S0140-6736(08)60921-6. 4C.
11. Mercuri E, Finkel R, Montes J, Mazzone ES, Sormani MP, Main M, Ramsey D, Mayhew A, Glanzman AM, Dunaway S, Salazar R, Pasternak A, Quigley J, Pane M, Pera MC, Scoto M, Messina S, Sframeli M, Vita GL, D'Amico A, van den Hauwe M, Sivo S, Goemans N, Kaufmann P, Darras BT, Bertini E, Munto-ni F, De Vivo DC. Patterns of disease progression in type 2 and 3 CMA: impli-
cations for clinical trials. Neuromuscul Disord. 2016;26:126-131. DOI: 10.1016/j. nmd.2015.10.006. 4C.
12. Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83:810-817. DOI: 10.1212/WNL.0000000000000741. 3B.
13. Fujak A, Kopschina C, Forst R, Mueller LA, Forst J. Use of orthoses andor-thopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 CMA patients. Disabil Rehabil Assist Technol. 2011;6:305-31 1. DOI: 10.3109/17483107.2010.525292. 4C.
14. Catteruccia M, Vuillerot C, Vaugier I, Leclair D, Azzi V, Viollet L, Estournet B, Bertini E, Quijano-Roy S. Orthopedic management of scoliosis by Garches Brace and spinal fusion in CMA type 2 children. J Neuromuscul Dis. 2015;2:453-462. DOI: 10.3233/JND-150084. 4C.
15. Dunaway S, Montes J, O'Hagen J, Sproule DM, Vivo DC, Kaufmann P. Independent mobility after early introduction of a power wheel chair in spinal muscular atrophy. J Child Neurol. 2013;28:576-582. DOI: 10.1177/0883073812449383. 3D.
16. Sauvagnac-Quera R, Vabre C, Azzi V, Tirolien S, Leiba N, Poisson F, Miladi L, Glorion C, Leclair D, Estournet B, Quijano-Roy S. Prevention and treatment of scoliosis by Garches Brace in children with type Ib CMA. Ann Phys Rehabil Med. 2016;59S:e92. DOI: 10.1016/j.rehab.2016.07.207. 4C.
17. Finkel RS, Bishop KM, Nelson RM. Spinal muscular atrophy type I: is it ethical to standardize supportive care intervention in clinical trials? J Child Neurol. 2017;32:155-160. DOI: 10.1177/0883073816671236. 1A.
18. Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, DeVivo DC, Yamashi-ta M, Rigo F, Hung G, Schneider E, Norris DA, Xia S, Bennett CF, Bishop KM. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet. 2016;388(10063):3017-3026. DOI: 10.1016/S0140-6736(16)31408-8. 3B.
19. Mesfin A, Sponseller PD, Leet AI. Spinal muscular atrophy: manifestations and management. J Am Acad Orthop Surg. 2012;20:393-401. DOI: 10.5435/JAAOS-20-06-393. 4C.
20. Phillips DP, Roye DP Jr, Farcy JP, Leet A, Shelton YA. Surgical treatment of scoliosis in a spinal muscular atrophy population. Spine. 1990;15:942-945. DOI: 10.1097/00007632-199009000-00019. 4C.
21. Sponseller PD, Yang JS, Thompson GH, McCarthy RE, Emans JB, Skaggs DL, Asher MA, Yazici M, Poe-Kochert C, Kostial P, Akbarnia BA. Pelvic fixation of growing rods: comparison of constructs. Spine. 2009;34:1706-1710. DOI: 10.1097/ BRS.0b013e3181ab240e. 4C.
22. Chng SY, Wong YQ, Hui JH, Wong HK, Ong HT, Goh DY. Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III. J Paediatr Child Health. 2003;39:673-676. DOI: 10.1046/j.1440-1754.2003.00266x 4C.
23. Modi HN, Suh SW, Hong JY, Park YH, Yang JH. Surgical correction of paralytic neuromuscular scoliosis with poor pulmonary functions. J Spinal Disord Tech. 2011;24:325-333. DOI: 10.1097/BSD.0b013e3181f9f6fc. 4C.
24. Sporer SM, Smith BG. Hip dislocation in patients with spinal muscular atrophy. J Pediatr Orthop. 2003;23:10-14. DOI: 10.1097/00004694-200301000-00002. 4C.
25. McElroy MJ, Shaner AC, Crawford TO, Thompson GH, Kadakia RV, Akbar-nia BA, Skaggs DL, Emans JB, Sponseller PD. Growing rods for scoliosis in spinal muscular atrophy: structural effects, complications, and hospital stays. Spine. 2011;36:1305-1311. DOI: 10.1097/BRS.0b013e3182194937. 4C.
89
26. Chandran S, McCarthy J, Noonan K, Mann D, Nemeth B, Guiliani T. Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy: a preliminary report. J Pediatr Orthop. 2011;31:450-454. DOI: 10.1097/ BPO.0b013e31821722b1.4C.
27. Anari JB, Spiegel DA, Baldwin KD. Neuromuscular scoliosis and pelvic fixation in 2015: where do we stand? World J Orthop. 2015;6:564-566. DOI: 10.5312/wjo. v6.i8.564. 5D.
28. Odent T, Ilharreborde B, Miladi L, Khouri N, Violas P, Ouellet J, Cunin V, Kief-fer J, Kharrat K, Accadbled F. Fusionless surgery in early-onset scoliosis. Orthop Traumatol Surg Res. 2015;101(6 Suppl):S281-S288. DOI:10.1016/j.otsr.2015.07.004. 2B.
29. Figueiredo N, Kananeh SF, Siqueira HH, Figueiredo RC, Al Sebai MW. The use
of magnetically controlled growing rod device for pediatric scoliosis. Neurosciences (Riyadh). 2016;21:17-25. DOI: 10.17712/nsj.2016.1.20150266. 2aA.
30. La Rosa G, Oggiano L, Ruzzini L. Magnetically controlled growing rods for the management of early-onset scoliosis: a preliminary report. J Pediatr Orthop. 2017;37:79-85. DOI: 10.1097/BPO.0000000000000597. 4C.
31. Dannawi Z, Altaf F, Harshavardhana NS, El Sebaie H, Noordeen H. Early results of a remotely-operated magnetic growth rod in early-onset scoliosis. Bone Joint J. 2013;95-B:75-80. DOI: 10.1302/0301-620X.95B1.29565. 3B.
32. Cheung KM, Cheung JP, Samartzis D, Mak KC, Wong YW, Cheung WY, Akbar-nia BA, Luk KD. Magnetically controlled growing rods for severe spinal curvature in young children: a prospective case series. Lancet. 2012;379(9830):1967-1974. DOI: 10.1016/S0140-6736(12)60112-3. 4C.
33. Fujak A, Raab W, Schuh A, Kress A, Forst R, Forst J. Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients. Arch Orthop Trauma Surg. 2012;132:1697-1706. DOI: 10.1007/s00402-012-1610. 3B.
34. Shchurova EN, Saifutdinov MS, Ryabykh SO. Loss of temperature and pain sensation as risk marker of neurological complications in surgical correction of severe spinal deformity. Pediatric Traumatology, Orthopaedics and Reconstructive Surgery.2017;5(4):5-15. In Russian. DOI: 10.17816/PTORS545-15. 4C.
35. Saifutdinov MS, Ryabykh SO, Savin DM, Tretyakova AN. Formalizing the results of intraoperative neurophysiological monitoring of the motor pathways into the spinal cord during the surgical correction of spinal deformities. Grekov's Bulletin of Surgery. 2018;177(1):49-53. In Russian. DOI: 10.24884/0042-4625-2018-177-1-49-53. 4C.
36. Saifutdinov MS, Ryabykh SO. Neurophysiological control of somatic motor system functional status during treatment of patients with spinal deformity. Nevrologicheskii Zhurnal. 2018; 23(5):248-258. In Russian. DOI: 10.18821/1560-9545-2018-23-5-248258. 4C.
37. Livingston K, Zurakowski D, Snyder B. Parasol rib deformity in hypotonic neu-romuscular scoliosis: a new radiographical definition and a comparison of short-term treatment outcomes with VEPTR and growing rods. Spine. 2015;40:E780-E786. DOI:10.1097/BRS.0000000000000911. 4C.
38. Fujak A, Raab W, Schuh A, Richter S, Forst R, Forst J. Natural course of scoliosis in proximal spinal muscular atrophy type II and III a: descriptive clinical study with retrospective data collection of 126 patients. BMC Musculoskelet Disord. 2013;14:283. DOI:10.1186/1471-2474-14-283. 2bB.
39. Mills B, Bach JR, Zhao C, Saporito L, Sabharwal S. Posterior spinal fusion in children with flaccid neuromuscular scoliosis: the role of noninvasive positive pressure ventilatory support. J Pediatr Orthop. 2013;33:488-493. DOI: 10.1097/ BPO.0b013e318287058f. 4C.
40. Zenios M, Sampath J, Cole C, Khan T, Galasko CS. Operative treatment for hip subluxation in spinal muscular atrophy. J Bone Joint Surg Br. 2005;87:1541-1544. DOI: 10.1302/0301-620X.87B11.16216. 4C.
41. Haaker G, Fujak A. Proximal spinal muscular atrophy: current orthopedic perspective. Appl Clin Genet. 2013;6:113-120. DOI:10.2147/TACG.S53615. 4C.
42. Skalsky AJ, McDonald CM. Prevention and management of limb contractures in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012; 23:675-687. DOI: 10.1016/j. pmr.2012.06.009. 4C.
43. Birch JG. Orthopedic management of neuromuscular disorders in children. Semin Pediatr Neurol. 1998;5:78-91. DOI: 10.1016/s1071-9091(98)80024-7. 4D.
44. Mary P, Servais L, Vialle R. Neuromuscular diseases: Diagnosis and management. Orthop Traumatol Surg Res. 2018;104(1S):S89-S95. DOI: 10.1016/j.otsr.2017.04.019. 4D.
45. Cottalorda J, Violas P, Seringe R. Neuro-orthopaedic evaluation of children and adolescents: a simplified algorithm. Orthop Traumatol Surg Res. 2012;98(6 Suppl):S146-153. DOI: 10.1016/j.otsr.2012.04.015. 4D.
46. Canavese F, Sussman MD. Strategies of hip management in neuromuscular disorders: Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease and Arthrogryposis Multiplex Congenita. Hip Int. 2009;19(Suppl 6):S46-S52. DOI: 10.1177/112070000901906s08. 4D.
47. Muqit MM, Moss J, Sewry C, Lane RJ. Phenotypic variability in siblings with type III spinal muscular atrophy. J Neurol Neurosurg Psychiatry. 2004;75:1762-1764. DOI: 10.1136/jnnp.2003.018614. 4D.
48. Fujak A, Kopschina C, Gras F, Forst R, Forst J. Contractures of the lower extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. Ortop Traumatol Rehabil. 2011;13:27-36. DOI:10.5604/15093492.933792. 4D.
49. Cunha MC, Oliveira AS, Labronici RH, Gabbai AA. Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander). Evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool. Arq Neuropsiquiatr. 1996;54:402-406. DOI: 10.1590/s0004-282x1996000300007. 4D.
50. Salem Y, Gropack SJ. Aquatic therapy for a child with type III spinal muscular atrophy: a case report. Phys Occup Ther Pediatr. 2010;30:313-324. DOI: 10.3109/01942638.2010.493097. 4D.
51. Lemke D, Rothwell E, Newcomb TM, Swoboda KJ. Perceptions of equine-assisted activities and therapies by parents and children with spinal muscular atrophy. Pediatr Phys Ther. 2014;26:237-244. DOI: 10.1097/PEP.0000000000000027. 4C.
52. Wang HY, Ju YH, Chen SM, Lo SK, Jong YJ. Joint range of motion limitations in children and young adults with spinal muscular atrophy. Arch Phys Med Rehabil. 2004;85:1689-1693. DOI: 10.1016/j.apmr.2004.01.043. 4C.
53. Fujak A, Kopschina C, Gras F, Forst R, Forst J. Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection. Ortop Traumatol Rehabil. 2010;12:410-419. DOI: 10.5604/15093492.933792. 4C.
54. Neurology: National Guidance. Brief Edition, ed. by E.I. Gusev, A.N. Konovalov, A.B. Gekht. Moscow, 2014. In Russian. 3B.
55. Perioperative management of patients with neuromuscular diseases: Clinical Guidance. All-Russian Public Organization "Federation of Anesthesiologists and Resuscitators", 2018. In Russian. http://far.org.ru/recomendation. 2bA.
56. Racca F, Robba C. Perioperative care of children with neuromuscular disease. In: Astuto M., Ingelmo P. (eds) Perioperative Medicine in Pediatric Anesthesia. Series: Anesthesia, Intensive Care and Pain in Neonates and Children. Springer, 2016. DOI:10.1007/978-3-319-21960-8_12. 2aB.
57. Racca F, Mongini T, Wolfler A, Vianello A, Cutrera R, Del Sorbo L, Capello EC, Gregoretti C, Massa R., De Luca D, Conti G, Tegazzin V, Toscano A, Ranieri VM. Recommendations for anesthesia and perioperative management of patients with neu-romuscular disorders. Minerva Anestesiol. 2013;79:419-433. 2aB.
58. Racca F, Del Sorbo L, Mongini T, Vianello A, Ranieri VM. Respiratory management of acutere spiratory failure in neuromuscular diseases. Minerva Anestesiol. 2010;76:51-62. 1C.
90
59. Richa FC. Anaesthetic management of a patient with limb-girdle muscular dystrophy for laparoscopic cholecystectomy. Eur J Anaesthesiol. 2011;28:72-73. DOI: 10.1097/ EJA.0b013e328340517b. 2aB.
60. Eichhorn JH, Cooper JB, Cullen DJ, Maier WR, Philip JH, Seeman RG. Stan-darts of patient monitoring during anesthesia at Harvard Medical School. JAMA. 1986;256:1017-1020. DOI: 10.1001/jama.1986.03380080063029. 1B.
61. Graham RJ, Athiraman U, Laubach AE, Sethna NF. Anesthesia and perioperative medical management of children with spinal muscular atrophy. Paediatr Anaesth. 2009;19:1054-1063. DOI: 10.1111/j.1460-9592.2009.03055.x. 4C.
62. Vianello A, Arcaro G, Braccioni F, Gallan F, Marchi MR, Chizio S, Zampieri D, Pegoraro E, Salvador V. Prevention of extubation failure in high-risk patients with neuromuscular disease. J Crit Care. 2011;26:517-524. DOI: 10.1016/j.jcrc.2010.12.008. 1B.
63. Rubino FA. Perioperative management of patients with neurologic disease. Neurol Clin. 2004;22:261-276. 1B.
64. Marik PE, Varon J. Requirement of perioperative stress doses of corticosteroids: a systematic review of the literature. Arch Surg. 2008;143:1222-1226. DOI: 10.1001/ archsurg.143.12.1222. 1B.
65. Yong SL, Marik P, Esposito M, Coulthard P. Supplemental perioperative steroids for surgical patients with adrenal insufficiency. Cochrane Database Syst Rev. 2009;(4):CD005367. DOI:10.1002/14651858.CD005367.pub2. 1B.
66. Sofocleous CT, Schur I, Cooper SG, Quintas JC, Brody L, Shelin R. Sono-graphically guided placement of peripherally in serted central venous catheters: review of 355 procedures. AJR Am J Roentgenol. 1998;170:1613-1616. DOI: 10.2214/ ajr.170.6.9609183. 1C.
67. Troianos CA, Hartman GS, Glas KE, Skubas NJ, Eberhardt RT, Walker JD.
Special articles: guidelines for performing ultrasound guided vascular cannulation: recommendations of the American Society of Echocardiography and the Society
of Cardiovascular Anesthesiologists. Anesth Analg. 2012;114:46-72. DOI: 10.1213/ ANE.0b013e3182407cd8. 1C.
68. Klingler W, Lehmann-Horn F, Jurkat-Rott K. Complications of anaesthesia in neuromuscular disorders. Neuromuscul Disord. 2005;15:195-206. DOI: 10.1016/j. nmd.2004.10.017. 2C.
69. Niranjan V, Bach JR. Noninvasive management of pediatric neuromuscular ventilatory failure. Crit Care Med. 1998;26:2061-2065. D0I:10.1097/00003246-199812000-00042. 2C.
70. Ruscic KJ, Grabitz SD, Rudolph MI, Eikermann M. Prevention of respiratory complications of the surgical patient: actionable plan for continued process improvement. Curr Opin Anaesthesiol. 2017;30:399-408. D0I:10.1097/AC0.0000000000000465. 2C.
71. Almenrader N, Patel D. Spinal fusion surgery in children with non-idiopathic scoliosis: is there a need for routine postoperative ventilation? Br J Anaesth. 2006;97:851-857. DOI: 10.1093/bja/ael273. 2C.
72. Marchant WA, Fox R. Postoperative use of a cough-assist device in avoiding prolonged intubation. Br J Anaesth. 2002;89:644-647. DOI: 10.1093/bja/aef227. 2C.
Address correspondence to:
Ryabykh Sergey Olegovich
Russian Ilizarov Scientific Center for Restorative
Traumatology and Orthopaedics,
6 Marii Ulyanovoy str., Kurgan, 640014, Russia,
rso_@mail.ru
Received 30.12.2019
Passed for printing 15.01.2020
Sergey Olegovich Ryabykh, DMSc, orthopedic trauma surgeon, Head of the Clinic of Spine Pathology and Rare Diseases, Russian Ilizarov Scientific Center for Restorative Traumatology and (Orthopaedics, 6 Marii Ulyanovoy str., Kurgan, 640014, Russia; AOSpine RF Education Officer Ortho, Member of the Presidium of the Russian Association of Spine Surgeons, Member of the Association for the Study and Application of the Method of Ilizarov ASAMI Russia, Member of the All-Russian Society of Orthopedic Trauma Surgeons, ORCID: 0000-0002-8293-0521, rso@mail.ru;
Dmitry Mikhailovich Savin, MD, PhD, neurosurgeon, orthopedic trauma surgeon, Head of Trauma-Orthopfedic Department No. 9 of the Clinic of Spine Pathology and Rare Diseases, Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, 6 Marii Ulyanovoy str., Kurgan, 640014, Russia, ORCID: 0000-0001-6284-2850, savindm81@mail.ru;
Egor Yuryevich Filatov, MD, PhD, orthopedic trauma surgeon, junior researcher, Clinic of Spine Pathology and Rare Diseases, Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, 6 Marii Ulyanovoy str., Kurgan, 640014, Russia, ORCID: 0000-0002-3390-807X, filatov@ro.ru; Svetlana Nikolaevna Medvedeva, board-certified neurologist, Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, 6 Marii Ulyanovoy str., Kurgan, 640014, Russia, ORCID: 0000-0002-1398-960X, med-sve@yandex.ru.ru;
Anastasia Nikolaevna Tretjakova, board-certified anesthesiologist-resuscitatoir, Head of Pediatric Anesthesiology and Critical Care Service, Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, 6 Marii Ulyanovoy str., Kurgan, 640014, Russia, ORCID: 0000-0002-1094-4502, anestezianik@mail.ru; Dmitry Arnoldovich Popkov, DMSc, board-certified orthopedic trauma surgeon, Professor of the RAS, Corresponding Member of the French Academy of Sciences, Head of the Clinic for Neuroorthopedics and Systemic Diseases, Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, 6 Marii Ulyanovoy str., Kurgan, 640014, Russia, ORCID: 0000-0002-8996-867X, dpopkov@mail.ru;
Tatyana Viktorovna Ryabykh, board-certifiedpaediatrist, Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, 6 Marii Ulyanovoy str., Kurgan, 640014, Russia, ORCID: 0000-0002-9315-3035, rtatav@rambler.ru;
Elena Nikolayevna Shchurova, DSc in Biology, leading researcher, Clinical Laboratory of the Clinic of Spine Pathology and Rare Diseases, Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, 6Marii Ulyanovoy str., Kurgan, 640014, Russia, ORCID: 0000-0003-0816-1004, elena.shurova@mail.ru; Marat Samatovich Saifutdinov, DSc in Biology, neurophysiologist, leading researcher in the Scientific Laboratory of the Clinic of Spine Pathology and Rare Diseases, Russian Ilizarov Scientific Center for Restorative Traumatology and Orthopaedics, 6 Marii Ulyanovoy str., Kurgan, 640014, Russia, ORCID: 0000-0002-7477-5250, maratsaif@yandex. ru.
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