STARTING A CLINIC FOR CHILDREN WITH ARTHROGRYPOSIS
Robert Bernstein, MD Mary eth Carter, MPT Nancy Carny, OTR Linda Howat, NP John Lawrence, MD Dan Snelson, CPO
A population of patients with the rare condition of stiff upper and lower joints, characterized by fixed internal rotation of the shoulders, extension of the elbows, flexion and ulnar deviation of the wrists, external rotation of hips and knee flexion contractures, was realized to have become populous enough at Shriners Hospitals for Children, Los Angeles, to warrant a clinic devoted to focusing only on their needs. Their diagnosis is arthrogryposis.
Arthrogryposis constitutes a group of unrelated diseases with a similar phenotypic appearance of a few to multiple congenital joint contractures. "Arthro" is derived from the Greek word for "joint." "Gryp" is dervied from the root for "curve." Joints are stiff and extremities may be curved and abnormally rotated.
To date, there are over 150 conditions under the umbrella term "arthrogryposis:1. The occurrence is one in 3,000 live births. Amyoplasia, also called arthrogryposis multiplex congenita, is the most common form, making up 40% of cases, occurring once in every 10,000 live births2. Joints of both arms and legs are restricted or curved, as described above. Children with other diagnoses may have only the wrists or legs or one side involved. Still others may have webbing of the skin in their elbows and knees (multiple pterygium). The etiology is usually unknown but thought to be mulifactorial. The most widely believed pathogenesis is the result of a decrease in fetal movement (fetal akinesia).
The goal of treatment is to obtain the maximum function possible. Basic activities, such as eating, combing the hair and toileting can be difficult, if not impossible. Thus a multidisciplinary team of specialists, including the occupational therapist, orthotist, physical therapist, hand surgeon, pediatric general surgeon and social worker are needed to treat the total patient.
Setting up the Clinic
We asked ourselves, "Is a clinic devoted to patients with arthrogryposis needed?" So we looked at the population to be served and the type of specialists that would be needed to serve them. We had had 90+ patients with this diagnosis coming to our general orthopedic clinics over the years. 36 were still active. We have on staff the team of specialists needed, plus a child life/recreation therapist.
We spoke with therapists in some of the six arthrogryposis clinics throughout North America, and then integrated their ideas into a multidisciplinary clinic modeled after our Myelodysplasia Clinic. Seven patients come to the clinic held monthly. Two to three come for follow-up visits, and four to five for team visits. A team visit is a thorough evaluation of the patient by each of the therapists and physicians during the 3-hour clinic with the patient staying in the same exam room. Team rounds follow this, in which all the therapists and physicians together visit each patient and their accompanying family members, room by room, sharing a verbal summary of the evaluation by each provider, then planning therapy by the group, incorporating family concerns and recommendations. Team evaluations are scheduled as follows: ages < 6 yrs, return every year; 6-10 years, every 2 years; 11-16 years, every 3 years; and > 16 years, once prior to age 21 (the age at which our pediatric care terminates). Record keeping is on progress notes, the hand surgeon's short and long orthopedic form, and the pediatric orthopedist's lower extremity form (adapted from Dr. Hugh Watts' Polio: lower extremity worksheet). Career counseling for 16+ year olds is recorded on the SF-36 Health Survey.
Occupational Therapy (O.T.)
Occupational Therapy assesses three areas:
- Active and passive ROM. The O.T. is not looking to record degrees of motion as much as observing what joint range patients' have move through and how they use their extremities.
- Activities of Daily Living (ADL): How patients perform tasks is observed. Do they use their bodies and external objects to compensate for lack of muscle strength and ROM, i.e. do they lean on table edges and chair backs to position extremities? Suggestions are provided on techniques to perform ADLs that have been useful for other arthrogryposis patients.
- School skills: Observations include: 1) how pencils are positioned for writing; 2) how the fingers use the keyboard and carriage for typing; and 3) how the keyboard and mouse are used for computer completed school work.
Treatment challenges are many. Available adaptive equipment is not designed for the pediatric population and the unique position of their extremities renders most equipment useless.
Self-feeding and toileting are the biggest obstacles for this population. The mobile arm support by JAECO has proven very successful in increasing independent hand to mouth feeding. The equipment is lightweight and very portable.
Toileting remains the most limiting area. Bidets are helpful but not convenient nor portable. Most school age children either require assistance at school for toileting needs or restrict their oral intake to avoid toileting until they return home.
The orthotist works closely with the arthrogryposis team, plus nursing staff. New patients are evaluated for orthotic interventions by the team with significant input from the physical and occupational therapists. Patients with existing orthoses are evaluated by the orthotist during the three-hour clinic. Adjustments are also done during this time.
When team rounds have been completed patients with orders for new orthoses are casted and measured for the devices. Follow up appointments are scheduled, paying particular attention to coordinate them with appointments with other team members so as to save families time and expense in traveling to the hospital.
The physical therapist evaluates and provides interventions to improve functional range of motion and mobility. Exercises thus far have not shown to have significant impact on increasing the limited range of motion. Transfers are difficult, too. Children with arthrogryposis can have extreme difficulty standing up from sitting in a chair or after falling on the ground. Our attention is turning to teaching maneuvers used successfully by older children to younger children to improve their same transfers. For example, techniques such as rocking from leg to leg against a chair helps a child with hip and knee flexion contractures slowly but independently transfer from sitting to standing. Areas of research for our future include: 1) identifying additional strategies for improving mobility and transfers; 2) verifying if upper extremity early weight bearing would improve shoulder function and prevention of leaning on the volar aspects of the wrists; and 3) identifying from adults with arthrogryposis what has helped them with mobility and transfers.
Upper extremity surgery focuses on releasing elbows with extension contractures so that children can passively flex the hand to the mouth or head. We are presently designing an orthotic devise to flex the elbow on demand. Wrist treatment focuses on releases of wrist flexion contractures followed by muscle transfers to achieve active wrist extension. Recently we have been using the Quengel device to assist in passive correction of wrist flexion contractures prior to muscle transfers.
Lower extremity surgery focuses on improving walking. Derotational femoral osteotomies place the legs straight ahead. Distal femoral extension osteotomies straighten knees with flexion contractures. Clubfeet are corrected to place the feet in a planta-grade position and to prevent pain. Deformities can reoccur during the growing years, often requiring repeated surgery. The Quengel device is currently being used in an attempt to correct or delay worsening knee flexion contractures in some cases. Casts are placed above and below the knee joint, the Quengel Hinge is connected between them, then daily adjustments are made, with the knee slowly pulled into extension.
Family Services / Social Services
The social worker evaluates the patient and family's functioning in the outpatient and inpatient settings. Patients are either screened by the social worker or referred by another member of the multi-disciplinary team. Referrals may be related to noncompliance with medical treatment, unrealistic expectations of treatment outcome, reinforcement of medical teaching, and / or behavioral problems.
Arthrogryposis is a condition that not only impacts the patient, but the family altogether. Provision of family centered care is vital to the child's well being, as it is recognized that parents' reactions directly impact their children. Subsequently, the family is also perceived as the client.
There is a shift in the functioning of a family at a child's birth due to the initial shock of caring for a child with a physical disability and the apprehension of the long-term implications. Families can optimize coping skills and can help inhibit deterioration of maladjustment. During counseling, problem areas are identified by the family and social worker. Desired outcomes and methods to accomplish them are strategized. Outside counseling and referrals to support groups, peer networking, such as through meeting in the clinic or using the Avenues web site, and vocational programs may be provided. Common issues addressed in counseling are parental guilt, ineffective parenting, rejection of deformities, poor self-esteem, poor motivation and depression / anxiety. The child that presents pervasive negative thought processes is helped to reframe these thoughts. Other interventions are psychoeducational. They can include training in social skills, assertiveness, problem solving and communication. Additionally, parents need guidance in setting realistic limits and goals and must reinforce positive behavior in their home environment.
A goal of social service is to help patients adjust to their physical deformities and limitations. An individual plan is formulated based on the child's and family's coping, abilities, deficiencies and available resources. A biopsychosocial assessment is performed to evaluate environmental and internal factors that influence the child and family's adjustment. Cognitive abilities, cultural background, language, religious beliefs and socioeconomic factors are considered. Additionally, hospitalization and surgery are recognized as triggers to anxiety and regression.
Our clinic is now in its second year, with 45 patients, and assessing the need to meet more frequently. Benefits have included positive feedback from parents, reduction of patient travel time to see multiple therapists, coordinated treatment, including upper and lower extremity surgery scheduling, enhanced goal planning, and the provision of a supportive environment for care and research. Challenges remain the lack of research in care of arthrogryposis patients, scheduling patients from 4 states and another country, northwestern Mexico, speaking with a population that speaks 2 languages, and multiple dialects of Spanish, and little direct contact with the involved patients' schools.
With guidance and support, function may be improved and children can be helped toward becoming self-sufficient members of the community. Early preparation may help them land careers. Ultimately, the coordinated care plan recognizes the psychosocial impact of the physical disability and promotes self-sufficiency and independence for the child. This recognition is essential for the acceptance of limitations and gain of greater self-confidence.
- Hall, J.G. "Genetic Aspects of Arthrogryposis." Clinical Orthopedics 1985,194:44-53
- Hall, J.G., Reed, S.D. and Driscoll, E.P. Part 1. "Amyoplasia: A Common Sporadic Condition with Congenital Contractures." American Journal of Medical Genetics 1985; 15:571-590
- Friedlander, H., Westin, S. and Wood, W. "Arthogryposis Multiplex Congenital." Journal of Bone and Joint Surgery 1968; 50A: 89-112.