Physiotherapy intervention in Smith–Magenis syndrome: A case report based on exercise therapy for postural control and balance

Abstract

Key Clinical Message

This case report aims to raise a physiotherapy intervention for subjects with SMS. The basis is an active work, based on postural control and balance training. Physiotherapists can play an important role in the management of these subjects.

Abstract

Smith–Magenis syndrome (SMS) is a genetic alteration that encompasses a series of psychophysical repercussions that interferes with postural control and the autonomous functionality of the subjects who suffer from it. In this study, a clinical case of an 18‐year‐old adolescent with a genetic diagnosis of an SMS mutation is presented. This work proposes a physiotherapy intervention, adapted to the individual conditions and agreed upon with his family. The goal would be to analyze the effectiveness of postural control and balance training in a subject with SMS. A physiotherapy intervention based on postural control and balance was proposed. This approach is combined with the strengthening and readaptation of the antigravity muscles, through strength training, mobilization exercises, gait and transfers reeducation. An initial assessment was carried out. The interventions were developed at the home of the clinical case. The main variables were balance and postural control. For this, the following measurement scales and tests were used: Face Scale, Gross Motor Function Scale, Berg Balance Scale, Romberg Test, Barthel Index, and Functional Assessment of Sitting (SATco scale). After the intervention, the case presented under observation greater postural control in the transfers, less imbalances, and introduced new positions during their development, which allow more functional and autonomous movement. This was also extrapolated to gait, which was optimized in its development. This observation was not reflexed in test scores, which remained the same than the initial assessment. The intervention had a positive effect on the development of trunk control, transfers, and gait.

1. INTRODUCTION

SMS is a genetic condition that includes a multisystemic and neurodevelopmental alteration. It usually presents psychomotor delay, mental retardation of different degrees (present in 100% of subjects) and a series of congenital anomalies that make up a pattern of physical, developmental, and behavioral traits. ¹ , ² SMS is present in all ethnic groups, in both sexes and all social classes. It has classically been estimated that appears in one every 25,000/50,000 newborns, although some sources consider a prevalence of one in 15,000. ¹ , ² , ³ SMS is a contiguous gene syndrome caused by a chromosomal interstitial microdeletion at 17p11.2. Point mutations in the RAI1 gene located in the same chromosomal region can cause this syndrome. A reduction of fetal mobility is usually present. ¹ , ³ , ⁴ , ⁵ The diagnosis of SMS is identifiable from molecular tests and the phenotype of each subject, which includes physical, developmental, and behavioral characteristics. The phenotype can manifest itself subtly in childhood, increasing towards school age. ¹ , ² , ³ , ⁵ , ⁸ The diagnosis can be completed with tests such as an electroencephalogram, electromyography, echocardiogram, and real ultrasound.

SMS is a multisystemic disease, that can have auditory, ophthalmological, endocrinological, or traumatological alterations (scoliosis, etc.), on the velopalatine function, in the amount of immunoglobulins, in sleep, and in the lipid profile.

1.1. Case history

The case presented is an‐18‐year‐old male with a medical diagnosis of a genetic mutation of SMS, since birth. He has got an alteration in RAl1, without heterozygous deletion. He presented significant psychomotor delay from birth, within an unlabeled dysmorphic condition. At the moment of the initial assessment, he presented alterations in dynamic balance in different positions (standing and walking). He was able to walk autonomously despite some deficits in the fluidity of movements. There were alterations (loss of balance) during the swing phase in both lower limbs and waist dissociation was abolished. Help was needed for dressing and feeding. The family identified a progressive loss of balance as the subject's age increases, which affects his functionality and the performance of activities of daily living.

1.2. Examination

1.2.1. Neonatology

Delay in intrauterine growth, evident in an ultrasound study performed at 20 weeks gestation. Delivery by scheduled cesarean section at 36 weeks, due to maternal problems, with a weight limit for the gestation age. He presented congenital great myopathy, delayed psychomotor development, surgical intervention for flat feet, and left hyper‐pronated valgus, followed by home treatment on medical recommendation. The current medication is risperidone (4 mg), every 12 h. A clinical interview was conducted in October 2019, with the subject's mother. She explained that the most relevant problem at that moment was a progressive loss of balance over the years, that increased the risk of failing. A lower capacity to interact with his environment and ability to concentrate were also detected.

Table 1 describes the findings of the initial assessment. In Figure 1 standing position can be seen. In Figures 2 and 3, postural change strategies are shown.

TABLE 1.

Exploration results.

Visual exploration
Standing	Tilt and left rotation of the head and neck Right inclination of the shoulder girdle Anterior shoulder curl Right rib cage protruded anteriorly Dorso‐lumbar rectification Abdominal bulging Lumbar hyperlordosis Left pelvic tilt Pelvic retroversion Right hip flexion External rotation of both hips Right knee flexion Bilateral pronated foot valgus Global anterior trunk inclination External hip rotation, greater on the left side
Supine position	Left pelvic tilt Increased ABD and hip external rotation
Lateral decubitus	Crossed arms over the chest Greater hip and knee flexion in the supralateral lower limb, both sides
Palpatory examination
Supine position	Xiphoid process painful to palpation Annoying palpation in the abdomen Painful palpation of the abdominal region Paravertebral muscles painful to palpation Muscles of the right quadriceps and posterior region of the left MI that are painful on palpation
Tone assessment
Greater tone in the bilateral lumbar muscles, slightly greater on the left side. Greater tone in the hamstring and calf muscles of the left leg Greater tone in the right quadriceps muscles Greater tone in the lumbar paravertebral muscles
Reflex assessment
Patellar reflex: exalted in the right MI compared to the left Achilles reflex: decreased bilaterally
Sensitivity assessment
Superficial: preserved in trunk, upper limbs and lower limbs Deep: preserved in the trunk, upper limbs and lower limbs
Passive mobility
Limited left knee flexion‐extension (120°) Limited ankle dorsiflexion in both MMII (30°)
Balance
Primary: preserved. External and self‐generated disturbances Secondary: alterations standing and walking, with support and righting reactions. Destabilization of the center of gravity outside the support base.
Coordination
Finger–nose: completes it bilaterally Heel–knee: completes it, with more difficulty in the right lower limb
Flips and transfers
Head and trunk control. Performs all stages of motor evolution Strategies in flips: body swing, supports with upper limbs and avoids to fall Transfer strategies: support on the front of the body, rocking the body with the lower limbs to straighten the position
Gait
Decreased step length and increased step width Dissociation of waists abolished

FIGURE 1.

Standing observation.

FIGURE 2.

Postural change strategy from sitting on the floor to standing.

FIGURE 3.

Postural change strategy from lying to sitting.

2. METHODOLOGY

2.1. Methodological design

Observational and longitudinal analytical study, which develops a physiotherapy intervention based on the re‐education of balance and postural control, adapted to the individual conditions of the subject and agreed upon with his family.

This study is carried out during the first months of the COVID pandemia (March–October 2020). The physiotherapy treatment took place at subject's home, where special hygiene measures were considered. Written informed consent was obtained from subject's mother, his legal guardian, to publish this report in accordance with the journal's case's consent policy.

The personal information that could identify each of them was stored separately to ensure the anonymity and confidentiality of the data. The main researcher was the person who exclusively managed the identification codes, which were kept for the internal management of the investigation, following the legal framework established in Organic Law 3/2018, of December 5, on the protection of personal data and guarantee of digital rights, and in Organic Law 3/ 2018 on the Protection of Personal Data and guarantee of digital rights and in Regulation (EU) 2016/ 679 of the European Parliament and of the Council of April 27, 2016.

2.1.1. Outcome and follow‐up

The general objective was to improve postural control, balance strategies, and functionality. The specific objectives were as follows:

1. To increase muscle flexibility in lower limbs and lumbo‐pelvic region.

2. To increase muscle strength in lumbo‐pelvic muscles.

3. Enhance balance and straightening reactions in different positions.

4. To improve the performance of transfers and position changes.

5. To optimize functionality for daily living activities.

The main variables were balance and postural control. For this, the following scales and tests were used: Gross Motor Function Scale, Berg Balance Scale, Romberg Test, Barthel Index, and Functional Assessment of Sitting (SATco scale). Face scale was used to determine if palpation was painful in different areas.

3. PHYSICAL THERAPY INTERVENTION

A 30‐week (8‐month) intervention program was carried out, with 2 weekly sessions, approximately 45 min long. The establishment of clear tasks, motivation and pretending the treatment as a game were considered as key. Treatment strategy was developing the tasks from a playful activity, trying not to use too many detailed instructions that could confuse, and establishing clear tasks.

4. TREATMENT

During the treatment, the aim was to integrate therapeutic exercise with neurological activation, performing “dual task”. ⁶ , ⁷

The mother or a family member were always present. The time per session was between 45 and 60 min, depending on the fatigue. Time interval used was usually between 11:00 and 13:00. In general, the scientific literature indicates that, in any neurological treatment, subjects respond better with fixed and clear schedules, therefore, it would be convenient to carry out the sessions at the same time if possible, and in the same room (unless that the treatment involves open spaces). This principle was followed in programming, ¹ , ⁸ , ⁹ . Another points of the physiotherapy program were as follows:

1. Massage therapy and stretching of lumbopelvic muscles and manual therapy for the pelvis.

2. Selective pelvic movements were stimulated.

3. Isometric and isotonic contractions, to increase muscle strength on abdominals and obliques (gluteal bridge, hip flexions with knees to the chest and transfers—supine to right lateral decubitus).

4. Mobilization of the central key point in sitting: anteroposterior and lateral, with the objective of working on active trunk control as well as balance and straightening reactions, promoting waist dissociation. The exercise progressed by replacing the surface with a softer one.

5. Scopes, with the aim of achieving concentric and eccentric contractions of the trunk muscles and re‐educating balance. The exercise was progressed by using longer superior limb chains, as well as an unstable surface.

6. Re‐education of transfers or parts thereof: active and functional movements are worked on completely (complete transfer motor pattern) or partially those aspects of it that present greater difficulty. Materials were used to make it difficult to perform (steps, balls, etc.).

7. Integration into more complex motor activities: circuits with changes in level or direction are planned.

8. Home exercise: a series of exercises were supervised during the treatment session. The family was trained in them. These are squats, ball throwing, step exercises, and hindered walking.

9. Gait: objects on the ground to increase the width and height of the step.

5. RESULTS

After the intervention, the case presented under observation greater postural control in the transfers, less imbalances, and introduced new positions during their development. They allowed him more functional and autonomous movement. Despite these changes in observation, no changes were observed in test scores.

The scores of the Gross Motor Function Scale (level 2), Berg Balance Scale (score of 45), Romberg Test (not feasible), Barthel Index (score of 67), and Functional Assessment of the sitting position (SATco, level 8), remained the same before and after the intervention. However, gait was optimized in its development.

Table 2 shows the scores on the scales and specific tests used, before and after intervention:

TABLE 2.

Results of the scales and specific tests.

Gross Motor Function Scale
Initial assessment	Final assessment
Level 2, wanders without assistive devices, but needs his mother to function outdoors and in the community	Level 2, wanders without assistive devices, but needs his mother to function outdoors and in the community
Berg Balance Scale
Initial assessment	Final assessment
Score of 45, informs about a slight risk of falling and walking without technical aids depending on the environment and activity	Score of 45
Barthel Index
Initial assessment	Final assessment
Score of 67, moderate dependence in activities of daily living	Score of 67, moderate dependence in activities of daily living
Romberg test
Initial assessment	Final assessment
Not feasible. Do not hold the feet together for at least 20 seconds	Not feasible. Do not hold the feet together for at least 20 seconds
Functional assessment of the sitting position (SATco)
Initial assessment	Final assessment
Level 8, manages to straighten the trunk after tilting it posteriorly	Level 8

6. DISCUSSION

There is very little literature about physiotherapy treatment in SMS or variants. However, in the few articles found, the most notable thing is to start treatment programs with finer activities related to the physical examination. It is important for each activity to be accompanied by enough repetitions to generate an efficient neural memory of the exercise. Usually, the treatment is expanded towards more global and mass activities, always seeking to enhance what the case can do individually. ²

Although the scientific literature about this syndrome is very scarce, and the duration of treatment is insufficient; The existing scientific articles do speak of a disease that is very little known and treated at a physiotherapeutic level. Among the articles analyzed, we only found one in which a complete clinical case of a young man with SMS is developed. In it, treatment techniques have focused on the most structural part from a neurorehabilitation point of view and focused on improving quality of life and delaying the possible consequences of the disease as much as possible. ² The rest of the scientific literature talks about improving the quality of life of users and encouraging their participation in ABVDs from a more medical treatment perspective, but focused on a global objective in common with our work.

In short, this is a booming field in which there is still much to be done, but the scientific literature analyzed does agree that prolonged physical and neurological treatment would be convenient and, above all, beneficial for this community.

Finally, the ASCM (American Fitness Association) recommends functional, neuromotor training. It is a physical training that incorporates motor skills such as balance, coordination, gait, agility, and proprioceptive training; to improve balance, agility, and muscle strength and reduce the risk of falls. It also promotes motor control and in general the case's quality of life. ⁶ , ⁷

This physiotherapy treatment seems to be effective in improving subject's functionality. But no changes are found on the final assessment regarding the scales and tests employed.

7. CONCLUSIONS

This study is an approach to addressing SMS in patients with postural control and balance dysfunction. It is important that research continues to be developed to identify the physiotherapy approach in these cases and increase scientific evidence on it. The proposed treatment has positive results in improving the subject's functionality, although a longer‐term intervention is needed to identify whether it is possible to modify the results in the measurement scales and tests used.

AUTHOR CONTRIBUTIONS

Zeltia Naia‐Entonado: Conceptualization; data curation; formal analysis; funding acquisition; investigation; methodology; project administration; resources; software; supervision; validation; visualization; writing – original draft; writing – review and editing. Adriana López‐Torres: Conceptualization; data curation; formal analysis; funding acquisition; investigation; methodology; resources; supervision; visualization; writing – original draft; writing – review and editing.

FUNDING INFORMATION

No source of support reported. This research did not receive any specific grant from funding agencies in the public, commercial, or not‐for‐profit sectors.

ETHICS STATEMENT

Written informed consent was obtained from the case's mother, his legal guardian, to publish this report in accordance with the journal's case consent policy.

CONSENT

Written informed consent was obtained from the patient to publish this report in accordance with the journal's patient consent policy.

López‐Torres A, Naia‐Entonado Z. Physiotherapy intervention in Smith–Magenis syndrome: A case report based on exercise therapy for postural control and balance. Clin Case Rep. 2024;12:e8719. doi: 10.1002/ccr3.8719

DATA AVAILABILITY STATEMENT

The data that support the findings of this study are available on request from the corresponding author, (Naia‐Entonado, Zeltia).