2.3.2 Intervention under ICF-CY Activity & Participation
According to the results of Assessment, at the activity and participation level of ICF-CY framework, the main training program and exercise dose are: 1) adaptive training on walking, 5 times a week, for 30 minutes, outside the treatment room, such as grass, slope and steps;2) Running training: on the 5-meter trail, running back and forth, variable speed running, weight bearing running, etc., 5 times a week, the training duration is 30 minutes;3) Jumping training, including hoop jumping, long jump, jumping obstacles, etc., 5 times a week, the training duration is 30 minutes.
2.4 Outcome
After six months of systematic community rehabilitation training and family training, the child’s function has been significantly improved. The evaluation results of follow-up were shown in Table 1. According to the body structure and function of ICF-CY frame, B7301 ”Power of One Limb”, the right leg support of the child could last from 3 seconds to 12 seconds, which changed from 2 points to full score in GMFM-88.B770 ”Gait Pattern Functions”, the walking posture of children is more close to nature, in line with the walking characteristics of this age group.S7709 ”Additional Musculoskeletal structures related to movement, unspecified”, children with lower limb running, jumping and other line lifting.
Activity and participation levels under the ICF-CY framework; D 4502 ”Walking on different surfaces”, the child can walk on any surface, especially uneven surfaces or grass surfaces. D 4552 ”RUNNING”, the child can complete short distance variable speed Running. D 4553 ”Jumping” means that the children’s Jumping ability is improved, which can assist in Jumping trampolines or free Jumping on the ground. For long-term goals (LTG), children can play in kindergartens or playgrounds at this stage without any restrictions as long as it is safe.
Discussion
This case has individualized short - and long-term goals under the framework of ICF-CY.Through phased training (including strength training and functional training, etc.), the strength of the patient’s unilateral limbs has been improved, which is consistent with the results reported in previous literature (Cup, 2007). At the same time, the improvement of movement ability of patients is mainly manifested in three aspects: walking posture, walking stability and walking endurance, namely, the improvement of alignment and alignment in children’s movement, and the improvement of movement ability and aerobic metabolism ability in different environments (DavidD.Kilmer, 2002; Kilmer DD, 2005). It has been documented that patients wearing orthopedic insoles can improve foot alignment, increase foot support surface, increase the stability of foot structure and walking stability, ensure forward propulsion, synchronize movement and assist walking (Casasnovas et al., 2008), thus improving the quality of life of children with CMT.The child in this report began to use orthopedic insoles at the age of 2 and was reexamined every six months to ensure that the orthopedic insoles and shoes could support the child’s walking and higher level of functional activities.
The ICF-CY framework was first proposed in 2007, and its main purpose is to document the limited participation of children. At the same time, it assists with the cooperation of health-professionals to assist children to maximize their participation in daily life activities (Granlund, 2013). However, in practice, because of the complexity of coding system, it has not been widely used. At present, ICF-CY framework is used to describe the rehabilitation of Spinal Muscular Atrophy (SMA), children with cancer, Cerebral Palsy (CP), adolescent vegetative state and children with visual impairment (Darcy L, 2015; Franki I, 2012; Leonardi M, 2012; Rainey L, 2014; Trabacca A, 2020).In this paper, CMT- Cy framework was first applied to children with CMT onset, and this classification is relatively rare in clinical practice.CMT patients with early childhood onset also need to consider infant development, such as the presence of milestones of gross motor function.Therefore, ICF-CY alone could not accurately reflect the overall condition of the child, so this case adopted the ICF-CY framework combined with GMFM-88 items for case analysis.Burak and Kavlak demonstrated that quality of life, activities and participation, and environmental factors were correlated under the ICF-CY framework in adolescent children with cerebral palsy.However, the subjects selected in this paper are adolescent patients, and there are many differences between them and infant patients still in the growth and development stage. Therefore, GMFM-88 combined with ICF-CY framework is a highlight of this paper.
There is no unified treatment strategy and prognosis judgment in all literatures (Pareyson D, 2009). At present, there is no effective medical treatment, supportive care is the most common management mode and is limited to rehabilitation and orthopedic surgery for musculoskeletal problems. Rehabilitation requires teamwork, especially between neurologists and physiotherapists. Existing literature shows that 70% of patients with CMT have sensory dysfunction, such as decreased vibration and joint position, decreased pain or temperature, and garty-like sensory distribution disorder. This case did not have similar sensory problems, and the study on CMT4F classification of early onset was blank.
In addition, because of the slow progression of symptoms in patients with CMT, long-term follow-up of these patients is particularly important.There are a few literatures on the effectiveness of long-term rehabilitation of CMT (Sman AD, 2015). Due to the influence of many factors such as experimental quality and sample size, high-quality studies are needed to confirm its importance.Article proves that with the progress of the disease, patients with juvenile onset of CMT ankle deformity may occur and the surrounding muscle contracture, and so on and so forth, and the patients in the case of juvenile onset, the degree of disease progression is unknown, therefore, the meaning of the long-term follow-up is not only with the growth of musculoskeletal problems also need to know for the unique performance of the disease, the effectiveness of rehabilitation method.
Although the effect of rehabilitation therapy has been confirmed in some literatures, there is no unified clinical rehabilitation guideline and exercise prescription for CMT disease (Cup, 2007), including training amount, training frequency, training duration and training method (Sman AD, 2015).Therefore, the training prescription in this case was mainly derived from the conventional treatment dose.
According to the Cieza team, the importance of rehabilitation therapy is still underappreciated globally, and in some poor parts of the world, rehabilitation is still considered as a form of post-operative treatment. According to statistics, one out of every three people in the world (about 2.45 billion people) need rehabilitation treatment when suffering from illness or injury (Cieza A, 2021). However, most countries and regions cannot meet the needs of rehabilitation, and rehabilitation resources are still very scarce. For the purpose of rehabilitation therapy, people’s cognition is still at the level of recovery function, and rehabilitation therapy can not only optimize individual function to the greatest extent, but also improve the ability of education, employment, home independence and other abilities of patients.
As for treatment strategies, the rehabilitation treatment of common diseases is guided by clinical rehabilitation guidelines, and the effectiveness of rehabilitation has been demonstrated by a large number of studies. However, for rare diseases, such as CMT4F, there is no recognized clinical rehabilitation guideline, and only a few literatures have confirmed the effectiveness of strength training, balance training, endurance training and functional training for this disease (Lindeman E, 1999 ; Lindeman, 1995; Ramdharry GM, 2014 ). The need for rehabilitation may be long-term, or even lifelong, and requires the consumption of a large number of human, material and financial resources of the family, society and the country. The Cieza team also proposed that rehabilitation should gradually be more community-based and benefit more patients (Cieza A, 2021).Therefore, the routine rehabilitation treatment of this case was carried out in the community rehabilitation center, which made the distribution of rehabilitation more reasonable.
Limitation
There are limitations to this report. First of all, this case only reported the children’s community and family sports training program, and did not describe the sensory integration training, hydrotherapy and other training in detail, and lacked a detailed description of multidisciplinary comprehensive rehabilitation. Secondly, this case only reported a single evaluation and a follow-up after half a year, and no long-term follow-up was conducted. In view of the characteristics of slow disease progression, long-term rehabilitation training and follow-up should be carried out to better evaluate the effectiveness of rehabilitation for this type of patients; Finally, CMT4F, as a rare clinical case, puts great mental and economic pressure on the children and their families when they are diagnosed. The families of the children have a very limited understanding of the disease. In order to reduce the pressure of the children and their families, and make the family members and the treatment team better cooperate, genetic counseling services should be provided. Studies have proved that appropriate medical information and genetic counseling are crucial for children with CMT and their families (ME., 2006; Szigeti K, 2009 ).
Conclusion and clinical implications
In this case, ICF-CY conceptual framework and GMFM-88 item functional scale were combined for the first time to be applied in the rehabilitation process of early childhood onset CMT4F patients.Through periodical training, the effectiveness of ICF-CY framework combined with GMFM-88 evaluation to guide rehabilitation diagnosis and treatment for early onset CMT4F patients was proved.
FUNDING
None.
ACKNOWLEDGMENT
The authors would like to thank Xinpeng Gan (916734638@qq.com)for undergoing scheduled rehabilitation procedure.
CONFLICT OF INTEREST
The authors declare that they have no conflict of interest.
AUTHOR CONTRIBUTIONS
Jing Zhang drafted the manuscript. Longyuan He collected data and restored data. Zhihui Li collected data and underwent data analysis. Lv Wei analyzed all data thoroughly. Jing He supervised the writing of the manuscript. All authors read and approved the final manuscript.
ETHICAL APPROVAL
Ethical approval was obtained from the biomechanical ethics committee of West China Hospital at Sichuan University.
WRITTEN CONSENT FROM THE PATIENT
Written informed consent was obtained from the patient’s Next of kin for publication of this case report.
DATA AVAILABILITY STATEMENT
The data that support the findings of this study are available from the corresponding author upon reasonable request.
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Table 1. Physical Therapist Documentation Template: Selected Codes as Examples