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).