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| Division of Occupational Therapy - OT Connect Arthrogryposis
Common Symptoms/Course of disease Arthrogryposis, or arthrogryposis multiplex congenita, comprises nonprogressive conditions characterized by multiple joint contractures found throughout the body at birth (Chen, 2004). (A contracture is a limitation in the range of motion of a joint.) Arthrogryposis, translated from Greek means “curved or hooked joints (Orthoseek, 2003).” Children with the disorder are stiff and have many joint contractures. Creases in the skin are often lost; instead, small dimples can be seen in the skin over the joints. The upper extremities (arms) tend to be in classic posture of internal rotation at the shoulders, extension of the elbows, and flexion at the wrists. The lower extremities show rigid flexion and internal rotation at the hips, stiffness in the knees, and clubfeet. In some cases, few joints may be affected and the range of motion may be nearly normal. In the “classic” case of arthrogryposis, hands, wrists, elbows, shoulders, hips, feet and knees are affected. In more severe cases, nearly every body joint may be involved, including the jaw and the back. Frequently, the contractures are accompanied by muscle weakness, which further limits movement (Shriners, 2003). Arthrogryposis can occur for many reasons. One reason is a primary neuropathic defect called arthrogryposis multiplex congenita. In arthrogryposis multiplex congenita, the primary defect involved a loss of anterior horn cells, resulting in partial paralysis of muscles during intrauterine life. At this time, the causes of the disorder are varied and not entirely understood (Batshaw, 2002). However, in all cases of arthrogryposis, for one reason or another, fetal movement has decreased. Motion is essential for normal development of joints and their adjoining structures. Lack of movement during development of the embryo causes extra connective tissue to develop around the joint. This results in fixation of the joint, limiting movement and further aggravating joint contracture (Chen, 2004). There is a wide variation in the degree to which muscles and joints are affected in those with arthrogryposis. In some cases, arthrogryposis may be accompanied by other conditions such as central nervous system disorders, which complicate the picture. However, in most cases, the outlook for those with arthrogryposis is a positive one. Unlike many other conditions, arthrogryposis is non-progressive; it does not worsen with age. Furthermore, with therapy and other available treatments, substantial improvement in function is usually possible. Most people with arthrogryposis are of normal intelligence and are able to lead productive, independent lives as adults (Shriners, 2003). Age of Onset: The occurrence of arthrogryposis is relatively rare, happening in approximately 1 in every 3,000 births. The disorder is detected at birth or by ultrasound examination (Chen, 2004). Sexual Biases: Males primarily are affected in X-linked recessive disorders; otherwise, males and females are affected equally (Chen, 2004). Cultural Biases: No cultural or racial biases are described (Chen, 2004). Types of the Disorder: Arthrogryposis is a descriptive term that encompasses a wide variety of distinct diagnoses, approximately 150 disorders. Clear delineations of the different diagnoses can be found at: Emedicine: Arthrogryposis. Current Medical Treatment: Treatment of arthrogryposis is often challenging and should not be undertaken by any one doctor, but by a multi-disciplinary team, including the pediatrician, neurologist, orthopedic surgeon, geneticist, physical and occupational therapist. The aim of treatment is to improve function. Intervention includes therapy, splinting, and surgical procedures (Orthoseek, 2003). To date there is no completely successful treatment approach to arthrogryposis. However, goals for intervention include lower limb alignment and establishment for ambulation and upper limb function for self-care (Chen, 2004). Occupational Therapy Involvement Occupational therapy services play a large role in the treatment of a child with arthrogryposis. Occupational therapy treatment focuses on maintaining functional range of motion and strength, providing adaptive equipment and training to increase performance in areas of activities of daily living (ADL’s), school, play, and work (Case-Smith, 2001). Performing range of motion, stretching, and splinting progressively throughout life helps to maintain, and in some cases improve, the amount of mobility available at affected joints in the upper extremities (Chen, 2004). Furthermore, occupational therapy offers support in the area of psychological adjustment for the child (Shriners, 2003). References
How OT Makes a Difference: Evidence-Based Practice A study was published in the Journal of Pediatric Orthopedics on the results of infantile serial casting on infants with arthrogryposis. The study reviewed all patients at Carrie Tingley Hospital with arthrogrypotic wrist flexion contractures treated with passive stretching, serial casting, and custom wrist orthotics to determine the effect on wrist position and function (Smith & Drennan, 2002). Average patient follow up was conducted at six years. The greatest gain in wrist motion occurred after the first casting session for all patients. Patients that were affected more distally had a greater increase of passive wrist flexion, were more functionally independent at final follow-up, and had no recurrence of deformity. Patients with “classic” arthrogryposis did not do as well with splinting. (As described earlier, “classic” arthrogryposis is the type of the disorder that involves the hands, wrists, elbows, shoulders, hips, feet and knees.) Most of these patients had a large recurrence of deformity after serial casting, remained functionally dependent with ADLs, and had less improvement in wrist motion. The study concluded that if serial casting were to have any effect, that it should be done in the infant stages, or while the child was very young. Furthermore, authors of the study indicated if wrist deformity occurs after initial casting, repeat serial casting is unlikely to improve wrist extension/function. Therefore, other interventions should be taken into consideration when treating the upper extremities of children with arthrogryposis (Smith& Drennan, 2002). Another study conducted on children with arthrogryposis, reviewed the medical records of 38 children with amyoplasia, the most common diagnostic subgroup of arthrogryposis. Amyoplasia represents more than one third of all cases of arthrogryposis, children with the disorder have fatty and fibrous tissue in replacement of their limb muscles. The study was designed to describe the birth characteristics, therapeutic interventions, and functional outcomes of the children (Sells, Jaffe, & Hall, 1996). Overall, 32 of the 38 children in the study had symmetrical joint involvement. Four-limb involvement was present in 32 of the 38 children, whereas 4 had upper-limb and 2 had lower limb involvement alone. Thirty-three of the children underwent orthopedic surgery, and there was an average of 5.7 procedures per child. It was determined that various types of therapy were regular parts of life for many patients. Ninety-four percent had participated in physical therapy, and 79% had participated in occupational therapy at some point in their lives. Therapy usually began very early, often in the newborn period, and at the time of the chart review children usually spent an average of 5 years in therapy services. At the time of the study, 26 children were actively receiving a combination of PT and OT services. Most children were receiving therapy services on a weekly (34%) or monthly (42%) basis (Sells, Jaffe, &Hall, 1996). Splinting and casting were often used to maintain or improve joint range of motion. Thirty-seven of the children reviewed in the study wore splints on the upper extremities. All of the patients were living with their parents, and many required some level of assistance in their activities of daily living. None of the 38 children were noted to use assistive devices for activities other than mobility. Seventy-five percent of the patients were independent with feeding, 55% required intermittent assistance with grooming and bathing, and 40% required intermittent assistance with toileting. Therefore, it was concluded that physical and occupational therapy, combined with splinting in the majority of children, was sufficient to enable the aforementioned levels of independence (Sells, Jaffe, &Hall, 1996). Clearly, the children in this study had many therapeutic interventions documented in their medical charts. The functional outcome data concerning therapeutic intervention in this study is highly optimistic. For instance, upper extremity splinting was successful in improving function for use in activities of daily living; also the vast majority of children older than 5 years of age were completely independent or required only intermittent assistance with activities of daily living. The study concluded that the functional effects of this severe birth defect could significantly improve with therapeutic intervention (Sells, Jaffe, &Hall, 1996) Gift from God Now at seven years old, I truly do not believe that C. even "realizes" that he is different, and even if he does he certainly refuses to be limited by that difference. He has also been taught quite a bit from his occupational and physical therapists. He has virtually no movement in his arms and hands; though he has been taught basic self hygiene care by an occupational therapist. He, of course, still requires some assistance. He cannot walk, and most likely never will; but it is nearly impossible to keep up with him. C. moves by "schooching" on his behind and "rolling" like a tumbleweed. If he decides he wants to move to the other side of a room, or go to the end of the house, HE GOES! Starting Early
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