A case study of a patient with CMT4F
based on ICF-CY framework
Jing Zhang1,Longyuan He2,Zhihui
Li3,Wei Lv4,Jing
He5
1Department of
Rehabilitation Medicine, West China Hospital, Sichuan University,
Chengdu, People’s Republic of China.
1Key Laboratory of Rehabilitation Medicine in Sichuan
Province, West China Hospital, Sichuan University, Chengdu, People’s
Republic of China.
2Department of
Rehabilitation, Third Affiliated Hospital of Zhengzhou University,
Zhengzhou, Henan Province, China.
3Department of Rehabilitation, Chengdu First People’s
Hospital, Chengdu, Sichuan Province, China.
4Department of Rehabilitation, Bayin’guoleng Mongol
People’s Hospital, Xinjiang Autonomous prefecture of Xinjiang, China
5Department of Rehabilitation Medicine, West China
Hospital, Sichuan University, Chengdu, People’s Republic of China.
5Key Laboratory of Rehabilitation Medicine in Sichuan
Province, West China Hospital, Sichuan University, Chengdu, People’s
Republic of China.
Correspondence
Jing He, Professor, No.37 Guoxue District, West China Hospital, Sichuan
University, Chengdu, Sichuan Province, China.
Email:yeshj028@163.com
A case study of a patient with CMT4F based on ICF-CY framework
Abstract
BACKGROUND & OBJECTIVE: To explore the effectiveness of using ICF-CY
framework and GMFM-88 functional assessment to analyze rehabilitation
diagnosis and treatment of patients with CMT4F.
Case Description: The child is 3 years old and 11 months old, and was
diagnosed with CMT4F type at 15 months old.In this case, ICF-CY
framework and GMFM-88 were used to demonstrate the ideas of
rehabilitation diagnosis and treatment and to explore the effectiveness
of treatment.
Outcome;After half a year of systematic community rehabilitation
training and family training, the children’s short-term goals STG1, STG2
and long-term goals LTG have been completed, and all items of GMFM-88
score full marks.
Discussion: This case is the first time to combine ICF-CY conceptual
framework with GMFM-88 item functional scale and use it in the
rehabilitation and diagnosis of early childhood onset patients with
CMT4F.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.
Keywords: ICF-CY, GMFM-88, CMT4F, Rehabilitation
1 Introduction
Charcot-Marie-Tone (CMT), also known as hereditary motor and sensory
neuropathy (HMSN), is the most common hereditary disease of the
peripheral nerve, with an incidence of about 1/2500 (Reilly, 1998).The
main clinical manifestations are progressive symmetrical distal weakness
and muscular atrophy, hypoesthesia and weakened or absent tendon reflex
(Skre, 1974).Most of the patients start in childhood and adolescence,
and the first symptoms are mostly in the lower extremities, gradually
progressing to the upper extremities. CMT is divided into subtypes based
on neuroelectrophysiological and genetic patterns. Among all subtypes,
the most common subtype was CMT1A, accounting for about 70% of the
total number of patients with CMT (Nelis, 1999).The second is CMT2. CMT4
is the rarest and has clinical characteristics. For example, most
patients start at a young age and progress rapidly. Due to different
degrees of sensory disorders and spinal deformity, they have obvious
distal limb deformity, and in severe cases they will eventually lose the
ability to walk. According to the study, the clinical manifestations of
patients diagnosed with CMT4F should be more severe CMT1, and these
patients have significant sensory loss. In this study, a child diagnosed
with CMT4F type was selected with no sensory impairment, mainly
manifested as motor dysfunction (Casasnovas, Cano, Alberti, Cespedes, &
Rigo, 2008).
ICF-CY is a globally recognized functional evaluation system. It makes a
detailed analysis and comparison of patients from several aspects of
body structure and function, activities, participation, personal and
environmental factors, and provides a unified standard for relevant
personnel in rehabilitation treatment to discuss patients’ functional
level.ICF-CY is commonly used as a rehabilitation treatment framework
for common diseases, which involves the complete ICF core entry.In order
to reflect the patient’s function in more detail, ICF Qualifier is used
as the scoring system.The purpose of this case is to use ICF-CY
framework and GMFM-88 functional assessment to share the ideas of
rehabilitation diagnosis and treatment of CMT4F type and explore its
effectiveness.
2. The Case Description
2.1 Patient History
The child, male, aged 3 years and 9 months, was born on March 18, 2016.
He was delivered at full term and naturally, the second child in his
family.The first child was a girl with no abnormality. The mother
recalled the pregnancy and the period of delivery without any special
condition, and denied that the labor was too long, ischemia and hypoxia,
and the fetal position was not right.Because ”the child can only raise
his head independently for 4+ months, can only sit alone for 7 months,
still can not walk for 15 months” to the outpatient department of our
hospital.At the time of routine child care in the local area, the child
was diagnosed as ”gross motor development lag?”For further screening,
electromyography, cranial imaging and genetic testing were performed,
and the diagnosis was CMT4F type.Referral to rehabilitation department
for routine rehabilitation assessment/treatment.
The patient was first evaluated in our hospital on June 22, 2017, and
the evaluation indicated that the child’s developmental level was
slightly behind the normal range (the child could stand alone for a few
seconds and dash forward a few steps).The children and their families
participated in home rehabilitation training once, and the following
training was mainly conducted in the local rehabilitation center (mainly
PT training).At the fourth assessment on February 3, 2019, it was
suggested that the child was slightly behind the normal range of
development (poor balance coordination, poor right lower limb
strength).The children were followed up for rehabilitation every year,
during which rehabilitation assessment and family training were
conducted. This case is the result of evaluation, treatment and
reevaluation on August 1, 2020, after the rehabilitation evaluation and
routine family training in our center on February 1, 2020, and the
6-month training in the local rehabilitation center. Through two
evaluation results, the rehabilitation treatment effect of this disease
under the framework of ICF-CY was discussed.
2.2 Assessment (see Table 1)
The main problems listed by the therapist in terms of body structure and
function in ICF-CY included 1) B7301 ”Power of One Limb” : the right leg
supported for 3 seconds in GMFM-88 test (see Attached Table 2);2) B770
”Gait pattern functions” : By observing walking, the patient showed the
disappearance of swinging arm, increased slosh, and wide base walking;3)
B7409 ”Muscle Endurance Functions, Unspecified” : In the endurance test,
the child is prone to fatigue and cannot walk continuously for 6
minutes;4) B7602 ”Coordination of voluntary movement” : Through GMFM-88
and observation of activities such as kickball and rope skipping, the
Coordination of children was poor;5) S7709 ”Additional Musculoskeletal
structures related to movement, unspecified” : observation of the
overall parataxel alignment shows that the parataxel alignment of the
right lower limb in the child is poor when moving.
In terms of the activity and participation levels in ICF-CY, the main
problems listed by the therapist included 1) D 4502 ”Walking on
different surfaces” : the child could not walk freely on rough or soft
surfaces, and the balance ability during Walking was limited;2) D 4552
”RUNNING” : Children should not run at a variable speed or under dual
tasks;3) D 4553 ”Jumping” : the child jumps with both legs 10cm, and
jumps with one leg on the right side 5cm.
Among the environmental and personal factors of ICF-CY, E310 ”Immediate
Family” means that the Family members of the child have a positive
attitude towards the treatment, which is conducive to the treatment.
E340 ”Personal Care Providers and Personal Assistants” : accompanied by
the child’s family members (grandma);In terms of personal factors, the
children themselves have strong subjective initiative and a more
positive attitude towards rehabilitation. On the other hand, children
with language communication barriers, extroverted personality, like to
communicate with different people, is conducive to the establishment of
children’s confidence in the process of treatment.
All the relevant therapists in the rehabilitation team explained the
overall situation of the patient. OT reported B140 ”attention functions”
and B152 ”Emotional functions” because of the child’s lack of attention
and poor Emotional control ability. According to psychotherapists, D240
”Handling stress and other psychological demands” is difficult for the
patient to deal with stress and other emotions. The family reported that
D571 ”Looking after one’s safety” was unable to take care of their own
safety when completing certain activities, and there were certain safety
problems.
2.3 Intervention
The rehabilitation goal of this case is established based on the ICF-CY
framework and through the consultation of relevant responsible
therapists, children, family members and caregivers (grandma).The
children had 2 short-term goals, including 1) right leg jumping 10cm;2)
Improve mobility in different environments (STG2).The long-term
rehabilitation goal is that play is not affected, which takes into
account the patient’s age and growth characteristics.
Based on short-term rehabilitation goal 1 (STG1) and ICF-CY framework
analysis, the main training programs should focus on the physical
structure and function of children, such as B455 Exercise tolerance
functions, B730 Muscle power functions, B740 Muscle endurance functions,
and B760 Control of voluntary movement functions. Programs include
strength training, spa treatments, and therapeutic games. The short-term
rehabilitation goal 2 (STG2) training mainly consisted of walking
training, jumping training and running training. The individual and
environmental factors such as the high degree of cooperation of the
children’s family members, the strong subjective initiative of the
children, the cooperation of the family members and caregivers can
promote the successful completion of rehabilitation training.
Rehabilitation professionals involved in rehabilitation training include
PT, OT, sports therapists, community rehabilitation physicians, etc. As
a child patient, family members and regular caregivers (grandma) are
also the main participants. Carter GT team believed that patients with
CMT needed the intervention of a multidisciplinary team, including
neurologists, psychiatrists, orthopedic surgeons, physical therapists,
occupational therapists, and orthopedic specialists (AgnesJani-Acsadi,
2008).The objective of this
comprehensive team should be to maximize patient independence and
improve the quality of life of patients (Carter, 2008). However,
community rehabilitation centers have their own limitations, so the
health professionals involved in this case still have limitations.
According to the particularity of individual cases, Intervention
training will be divided into two parts: community rehabilitation
training (see Table 3) and family rehabilitation training. According to
the existing literature, the training intensity was selected as light to
medium intensity (Chetlin, 2004; El Mhandi, 2007; Lindeman, 1995; Young
P, 2008).