Atlantoaxial instability in Down syndrome

Introduction: Joint laxity is reported as one of the main features of Down syndrome. C 1 x 2 instability is considered as its major and most dangerous consequences. The purpose of this paper was to undertake a thorough radiological description of C 1 4 2 anomalies in this disorder, and to evaluate the factors associated with an increased risk of instability and/or neurological compromise. Material and method: As part of a national survey on the medical problems of Down syndrome we conducted an evaluation of the orthopaedic aspects of this genetic abnormality with a particular emphasis on the upper cervical spine. Four hundred and fifty-eight consecutive patients were enrolled for the purpose of the study. Exhaustive questionnaires as well as a thorough physical examination, including a neurological assessment (even the mildest signs), an analysis of the laxity profile according to Carter and Wilkinson, and a detailed orthopaedic evaluation were performed by the same specialized examiner. Patients were divided into two different categories depending on the presence or absence of neurological signs, and in two groups depending on the presence or absence of a generalized laxity (as defined by Carter and Wilkinson). Lateral radiographs of Cl-C2 were taken in neutral, hyperflexion and hyperextension positions for each patient, by the same x-ray technician and using the same machine, following a standardized method inspired from Singer et al.'s with modification, taking into account the magnification factor. A simple blind interpretation of radiographs was done by the same radiologist and included screening for any congenital or degenerative abnormality, and calculation of the C 1 4 2 distance, the minimal sagital diameter (MSD) (representing the space available for the spinal cord), and the C 1 4 2 angle (previously unreported in the literature and specially described for this study). Results were then compared to the literature values when available, and correlated to age, gender, neurological signs, and Laxity profile. Seven patients were excluded from the study for lack of compliance during x-rays, and 9 for insufficient clinical or radiological data. Statistical analysis was performed on the remaining 442 patients, using the Pearson test and ANOVA parametric method with significance forp<0.05. Results: There were 184 females and 258 males with an average age of 13.8years. Minor neurological signs were found in 42% of the patients without any major deficit. A generalized laxity was found in 24% of the cases. Other orthopaedic problems most commonly at the feet were found in 85% of the cases. A great variation in radiological measures was found, the reason why we decided not to present averages. The C 1 4 2 distance was >4mm on hyperflexion films (reported limit for instability) in 34 cases. The greatest Cl-C2 distance was 8mm in neutral position and 9.6mm in hyperflexion. The lowest value of MSD was 8mm in hyperflexion and lOmm in neutral position (14mm being reported as the lowest limit for spinal cord safety regardless of age). The widest range of values was found for the C 1 4 2 angle. Generalized laxity and C 1 4 2 distance are inversely proportional to the patient's age. There is no significant relationship between C1X2 instability (C142 distance > 4mm) and gender or generalized laxity, and between Cl-C2 instability or the generalized laxity and neurologic deficit. Discussion: This paper involves a large patient population, confirms some of the data already reported in the literature and brings out new information about Down syndrome. Based on a standardized radiographic technique that also takes into account the magnification factor, it offers a real assessment of the C 1 4 2 relationship and raises some questions about the definition, the etiology, the limit of instability, as well as its correlation with the laxity profile and the neurologic picture.

distance was 8mm in neutral position and 9.6mm in hyperflexion. The lowest value of MSD was 8mm in hyperflexion and lOmm in neutral position (14mm being reported as the lowest limit for spinal cord safety regardless of age). The widest range of values was found for the C 1 4 2 angle. Generalized laxity and C 1 4 2 distance are inversely proportional to the patient's age. There is no significant relationship between C1X2 instability (C142 distance > 4mm) and gender or generalized laxity, and between Cl-C2 instability or the generalized laxity and neurologic deficit. Discussion: This paper involves a large patient population, confirms some of the data already reported in the literature and brings out new information about Down syndrome. Based on a standardized radiographic technique that also takes into account the magnification factor, it offers a real assessment of the C 1 4 2 relationship and raises some questions about the definition, the etiology, the limit of instability, as well as its correlation with the laxity profile and the neurologic picture. Participants: Seventy-nine consecutive children (47 male, 32 females) with a mean age of 6.22 1.8 years at rhizotomy were studied. All but one was ambulatory (64 community ambulators), and 43 required no assistive devices. Measurements and main results: A detailed chart review was completed, and upright PA and lateral radiographs were reviewed. The mean radiographic follow-up was 4.2 2 2.0 years, andthemeanclinical follow-upwas 5.822.4years. h a n d post rhizotomy sagittal spine variables were analyzed for sitting films, standing films, and finally for those patients who had sitting or standing radiographs both pre and post rhizotomy.
Rhizotomy decreased spasticity (p< lo6) and led to small but significant improvements in both lower extremity muscle strength (range for 5 muscles: p=0.003 top< 10" ) and joint range of motion (p= top= lod). None of the patients had scoliosis or spondylolisthesis before rhizotomy. Scoliosis occurred in 13 children (17%), and the average magnitude was 1624" (range 11-24?. There was no significant difference between preoperative (35" sitting, 38" standing) and follow-up (33" sitting, 33" standing) thoracic kyphosis, or between preoperative ( 1 7 sitting, 45" standing) and follow-up (18" sitting, 45" standing) lumbar lordosis. However, there was a significant difference in lumbar lordosis between sitting and standing radiographs (p< lo6). N o progressive or rigid hyperlordotic lumbar deformities were observed. Spondylolisthesis was identified in 9 diplegic children (12%; 8 0 grade I), one of whom required a lumbosacral arthrodesis for pain. The mean follow-up lordosis for those with spondylolisthesis was 35O (7-729. Spondylolisthesis was correlated with greater lumbar lordosis (p=0.03), stronger hip abductors (p=O.Ol), and increased popliteal femoral angles (p=0.03) preoperatively, and with stronger hip flexors postoperatively (p=O.O2). Back pain was identified in only four patients at follow-up, two of whom had spondylolisthesis. Cowlusion: Both scoliosis and spondylolisthesis were observed following selective dorsal rhizotomy in an ambulatory population with no prior deformity, and longer term follow-up is required to determine the clinical significance of these findings. A rapidly progressive or rigid lumbar hyperlordosis was not observed. We recommend periodic radiographic screening, as spondylolisthesis may be asymptomatic. The etiology of spondylolisthesis is likely multifactorial, especially as anatomic reconstruction of the posterior elements by laminoplasty did not appear to be protective in this ambulatory population. Objective: After 6 to 8 months of age, surgical intervention for the shoulder paralysis and deformity in children with an upper brachial plexus injury has generally been limited to contracture release and muscle transfers. This report discusses another treatment strategy. Participants: Over a 4-year period, 25 children have been first evaluated after 10 months of age (range 10 to 22 months) for poor recovery following an upper (C5/C6) brachial plexus injury following birth trauma. Eighteen had a fixed internal rotation contracture of the shoulder of at least 45 degrees.
Method: AU children underwent microsurgical neurolysis. In 18 children, the internal rotation contracture was released by subscapularis slide. Where instability existed following restoration of full passive mobility, a posterior capsular tighteningwas performed. In 23 children, bypass grafting into the suprascapular nerve using proximal and distal end-to-side repairs was performed. Donor nerve included both C5 and the spinal accessory nerve. All patients underwent intraoperative botulinum toxin injection to the pectoralis major and latissimus dorsi muscles. Results: All patients have been evaluated at least 18 months following surgery. Based on the criteria of Gilbert and Tassin, all children advanced one grade or more in shoulder function. N o child lost motor function. A parental questionnaire showed 100% satisfaction with outcome. Conclusion: Children seen late (10 to 24 months) with upper brachial plexus injuries associated with both persistent paralysis and shoulder deformity benefit from late multidisciplinary reconstruction.

B:4
Responsiveness and uniqueness of the pediatric outcomes data collection instrument compared to the gross motor function measure for measuring orthopaedic and neurosurgical outcomes in cerebral palsy DL  Assessment tools must also be tailored to the research goals and to the study population. The GMFM, while excellent and widely used, is limited by a ceiling effect when assessing more highly functional children, that was improved but not eliminated by the development of the GMFM-66, and assesses Body Structures and Functions as defined by the new International Classification of Functioning (ICF) rather than Activity and Participation which are critically important areas. The PEDI has limited usefulness for most ambulatory children and is only validated up to age 7 years. Therefore, responsive outcome measures for more functional children with CP of all ages with a greater emphasis on activity, participation and health related quality of life are needed. Design: Before and after trial comparing 2 outcomes measures across 3 surgical groups. Setting: Tertiary referral center. Participants: Participants include 50 children with spastic diplegic or quadriplegic CP who underwent either muscle tendon lengthenings (MT; n= 21), or neurosurgical spasticity reduction consisting of either selective dorsal rhizotomy (SDR; n= 14) or intracthecal baclofen pump implantation (ITB; n=12). Data reported here are on the first 46/50 patients who have completed the study. Metbod and main results: All were assessed pre-and 9 months post-surgery using GMFM88 and PODCI Parent Forms. Change in subscale and total scores on each instrument were compared to each other and across groups using repeated measures ANOVA (p< 0.05). In addition, predicted change over time based on age, functional level, and time at follow-up was computed for each patient (Palisano, 2001) and compared to surgical effect sizes. This regression equation allows for a more valid comparison of treatment effectiveness across non-randomized or non-matched groups of participants. All interventions exceeded predicted change over time alone in the GMFM Total Score. In SDR group, GMFM Sitting, Crawling, and Total Scores improved significantly, with a negative change in the PODCI Pain Scale, with participants reporting increased fatigue and listlessness. For MT group, GMFM Sitting, Standing, and Total Scores improved along with PODCI Global Function & Happiness Scale and Sports Subscale Scores. In ITB group, only the GMFM Sitting Scale and the PODCI pain showed strong trends towards improvement. This group was older and less functional before surgery; therefore effect size was smaller, but shown by regression equation to be greater than would have been expected without treatment. PODCI expectations were met by MT surgery with a negative trend in the Neurosurgery groups. Ceiling and/or basement effects were seen in the GMFM and PODCI respectively for some patients. Conclusion: GMFM limitations of ceiling effect and questioned relevance to activity and participation are nicely addressed by the PODCI. While GMFM total changes were similar for the MT and SDR groups, the PODCI appeared to be more responsive to the type of change in the orthopaedic surgical group, which may reflect its initial intent to measure musculoskeletal change, but may not be as useful for more impaired individuals, or those undergoing a neurosurgical procedure The GMFM regression equation allows for a valid comparison of treatment effectiveness across non-randomized or non-matched groups of participants, and similar normative data would be a useful adjunct to interpretation of the PODCI Scores.

BU TB, Northern Ireland
Objectives: To investigate the efficacy of neuromuscular electrical stimulation (NMES) and therapeutic electrical stimulation (TES) in strengthening the quadriceps muscles in children with bilateral cerebral palsy (CP). Design: A randomized placebo-controlled trial. Setting: Home-based treatment, assessments in a regional hospital physiotherapy department. Participants: A volunteer sample of 63 participants, aged 5-lb years with spastic CP affecting both legs were screened. Three children did not commence treatment: one due to surgery and two due to schoobknily commianents. Six children withdrew   the study for a 12-week period and were assessed at entry to the study and at four weekly intervals. Each child had a fourweek baseline period (A) with no hand treatment to control for maturation. They then had a four-week treatment period (B) followed by a four-week follow-up period (A) with no treatment. During the treatment period, the children attended twice weekly for a one-hour session consisting of a structured programme of play activities and were given a short home programme of play activities for the non-treatment days. Verbal instruction and gentle restraint, without the use of splints, were employed to restrict use of the affected upper limb. Participants: Nine children presenting with hemiplegic CP were involved in the study. There were six males and three females, median age 31 months, ranging from 21 months to 61 months. The ratio of right to left hemiplegia was five to four. The children were recruited from the local child development centre.

Measurements and main results: Changes in hand function
were assessed using the Quality of Upper Extremity Skills Test (QUEST) (De Matteo et a1 1993) and the researcher (CN) carried out all the assessments. The children were seen to improve throughout the study, but the greatest improvements were seen immediately following the four-week treatment period (B). Statistical significance was found using the Wilcoxon signed rank test at the 1% level immediately following treatment and at the 5% level during the baseline period and the follow-up period.

Conclusion:
The results of this pilot study suggest that intensive physiotherapy using play for the affected upper limb, whilst restricting use of the unaffected upper limb, may be an effective way of treating children with hemiplegic CF! The children tolerated the treatment well and showed both functional improvements and increased use of the affected upper limb. Future work is planned to consolidate and develop this study. Participants: Xvo hundred and twenty-six children with spastic CP, who received injections of BTX-A, in the context of focal, regional, or multilevel spasticity management. Method: Children who were scheduled to receive Intramuscular injection of BTX-A as part of their management of spasticity associated with CP were invited to participate in the study. Informed written consent was obtained from the parents or guardians. Target muscles for BTX-A injection were identified from presenting symptoms, findings on clinical examination, video recordings of gait and in selected participants, and instrumented motion analysis. The target muscle was identified by manual palpation and known anatomical landmarks. With the child under mask anesthesia, an insulated 27G needle (Allergan USA) was inserted into the muscle belly and the position verified by moving the distal joint through a range of motion and observing reciprocal movement of the needle in the opposite injection. The needle was then attached to a stimulator (Stimlocator, Braun). A low current was applied in a TO4 (train of four) setting and the limb was observed for contraction of the muscle belly and movement of the distal joint. The result was recorded as accurate when manual placement was confirmed by electrical stimulation and inaccurate when no contraction was observed and the needle had to be replaced into contractile tissue. Measurements andmain results: Two hundred and twenty-six children received 1372 injections into 492 muscles during the study period. Accuracy of needle placement was 78% in the gastrocnemius, 68% in the hip adductors, 46% in the hamstrings, and only 12 % in tibialis posterior. In the hemiplegic upper limb the figures were 62% in the biceps brachii, 32% in adductor pollicis, 22% in pronator teres, 16% in FCU, and 12% in FCR. Conclusion: Many variables may affect the outcome of spasticity management by intramuscular injection of BTX-A. Accuracy of needle placement has not been previously investigated or reported in this population. Our results show that needle placement after manual palpation is reasonably accurate for large subcutaneous muscles, including the gastrocnemius and biceps brachii. Manual needle placement is not accurate for smaller, deeply placed muscles. The diffusion characteristics of BTX-A in vivo are not well defined but more consistent clinical outcomes start with accurate identification and injection of the selected target muscle.