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