Long-term follow-up of functioning after spinal surgery in patients with Rett syndrome.

In a prospective study, 23 consecutive girls with Rett syndrome and neuromuscular scoliosis were evaluated for functioning at a long-term follow-up. The patients had mostly improved, which was confirmed by their parents. Rett syndrome is associated with neuromuscular scoliosis and has a typically long C-shaped thoracolumbar kyphoscoliosis. Prospective long-term follow-up studies related to these patients' total situation are sparse. Most studies focus on the Cobb angle of the scoliosis, whereas parents are mainly concerned about the girls' continued functioning. Twenty-three patients with Rett syndrome and neuromuscular scoliosis were evaluated preoperatively from 1993 to 2002. At follow-up, 19 patients remained in the study. Three patients died (not due to surgery), and one patient could not participate because it was too far to travel. Mean follow-up time was 74 months (range 49-99 months). The assessments comprised the sitting balance, seating supports in wheelchair, weight distribution, time used for rest, care given, and angle of scoliosis. Follow-up questionnaires and two-open-ended questions about the positive and negative effects of surgery were sent to parents. Sitting balance, number of seating supports in wheelchair, weight distribution, time used for rest, and the Cobb angle had all improved after surgery. The parents assessed improvement in seating position, daily activities, time used for rest, and cosmetic appearance. We can conclude that the stabilized spine resulted in sufficient strength to keep the body upright with the possibility of looking around at the surroundings more easily. The girls got better seating position with less need for seating adaptations in the wheelchair and with reduced time needed for resting during the day. Finally we can conclude that the indication for surgery is to get a better posture which lead to less risk of pressure sores, and that un upright position lead to better possibility to easily breath with fewer episodes of pneumonia and a better general health as result. The evidence of positive surgical effects for girls with Rett syndrome is of great importance in indication for surgery in the decision-making process.

Hand function, experienced pain, and disability after distal radius fracture.

OBJECTIVE: We sought to explore differences in range of motion (ROM), grip strength, and self-reported pain and disability over time after plate-fixation surgery for distal radius fracture. METHOD: We used a prospective repeated-measures research design with four measure points for a study sample of 101 patients. The Disabilities of the Arm, Shoulder and Hand (DASH) Questionnaire; the Global Assessment Scale; and the Canadian Occupational Performance Measure were used to assess ROM, grip strength, and pain level. RESULTS: ROM and grip strength improved over time. Pain improved until 6 mo after surgery but greatly deteriorated from 6 to 24 mo. Concurrently, overall discomfort (global index) from the wrist extensively improved from 12 to 24 mo. DASH score decreased 20.1 points from 6 wk to 6 mo and remained stable until 24 mo. CONCLUSION: Even when ROM and grip strength were almost fully regained at 12 mo, pain at rest and during activity was still an issue at 24 mo.

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence.

STUDY DESIGN: Modified Delphi technique. OBJECTIVE: To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion. SUMMARY OF BACKGROUND DATA: Rett syndrome is a rare disorder and clinical expertise is thus with small case series. Scoliosis is a frequent association and the evidence base dealing with scoliosis management in this syndrome is limited. Parents of affected girls and women have expressed needs for more information about scoliosis and Rett syndrome. METHODS: An initial draft of scoliosis guidelines was created based on literature review and open-ended questions where the literature was lacking. Perspectives of four parents of Rett syndrome patients informed this initial draft. Access to an online and a Microsoft Word formatted version of the draft were then sent to an international, multidisciplinary panel of clinicians via e-mail with input sought using a 2-stage modified Delphi process to reach consensus agreement. Items included clinical monitoring and intervention before the diagnosis of scoliosis; monitoring after the diagnosis of scoliosis; imaging; therapy and conservative management; bracing; and preoperative, surgical, and postoperative considerations. RESULTS: The first draft contained 71 statements, 65 questions. The second draft comprised 88 items with agreement to strong agreement achieved on 85, to form the final guideline document. A comprehensive, life-span approach to the management of scoliosis in Rett syndrome is recommended that takes into account factors such as physical activity, posture, nutritional and bone health needs. Surgery should be considered when the Cobb angle is approximately 40 degrees to 50 degrees and must be supported by specialist management of anesthesia, pain control, seizures, and early mobilization. CONCLUSION: Evidence- and consensus-based guidelines were successfully created and have the potential to improve care of a complex comorbidity in a rare condition and stimulate research to improve the current limited evidence base.

Long-term follow-up of functioning after spinal surgery in patients with neuromuscular scoliosis.

STUDY DESIGN: A prospective study of 100 consecutive preoperative patients with neuromuscular scoliosis whose activities and function were evaluated in a long-term follow-up. OBJECTIVES: To evaluate long-term follow-up of functioning in patients with neuromuscular scoliosis. SUMMARY OF BACKGROUND DATA: Few studies of patients operated for neuromuscular scoliosis are prospective, with long-term follow-up based on assessments of activities and function. METHODS: The follow-up included 82 patients with neuromuscular scoliosis who were evaluated before surgery from 1992 to 1996. The follow-up time was 84.5 months on average. The assessments comprised sitting, angle of scoliosis, lung function, reaching, pain estimation, activities of daily living (ADL), care given, and time used for resting. A follow-up questionnaire as well two open-ended questions about the positive and negative effects of the surgery were sent to the patients/parents. RESULTS: Improvements after surgery were shown in the Cobb angle, lung function, seating position, ADL, and time used for resting. In a comparison between the 1-year follow-up and the long-term follow-up, there were further improvements in sitting, ADL, and care given but an increased Cobb angle. These results were in line with the assessments reported by patients and relatives. Only minor differences were shown in long-term outcome in subgroups according to understand/not understand verbal instructions. Patient age 21 years or less seemed more improved than those age 22 years and older at the time of surgery. CONCLUSIONS: The comparison of the preoperative and long-term follow-ups showed that patients were mostly improved. Further improvements were shown beyond the 1-year follow-up. The subjective assessments also confirmed the results. The heterogeneity of patients with neuromuscular scoliosis makes it important to evaluate the patients in subgroups and in relation to age.