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1.
Genet Couns ; 14(1): 95-100, 2003.
Article in English | MEDLINE | ID: mdl-12725593

ABSTRACT

We describe another observation of asymmetrical Larsen syndrome. The unilateral manifestation of the typical skeletal defects indicates that this condition might be due to unilateral somatic cell-line mosaicism.


Subject(s)
Bone Diseases, Developmental/genetics , Clubfoot/genetics , Craniofacial Abnormalities/genetics , Joint Instability/genetics , Mosaicism/genetics , Bone Diseases, Developmental/diagnostic imaging , Child, Preschool , Clubfoot/diagnostic imaging , Craniofacial Abnormalities/diagnostic imaging , Diagnosis, Differential , Female , Humans , Joint Instability/diagnostic imaging , Karyotyping , Radiography , Syndrome
2.
Eur J Neurol ; 8 Suppl 5: 75-87, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11851736

ABSTRACT

It is recognized that objective gait analysis is of great value in planning a multilevel botulinum toxin type A (BTX-A) treatment. After BTX-A treatment, objective outcome measures can provide new and interesting information for each individual child with cerebral palsy (CP). Moreover, by studying group results, we may evaluate our treatment hypotheses. The present prospective study attempts to document the effect of integrated multilevel BTX-A treatment on objective gait parameters and to define the optimal strategy for the combined treatment of BTX-A with casting in children with cerebral palsy. Objective three-dimensional gait analysis (3DGA) data were collected pre- and 2 months post-treatment, in two randomized patient groups: a first group of 17 children treated with lower leg casting prior to BTX-A injections, and a second group of 17 patients who received casting immediately after injections. The present study demonstrates that improved gait can be achieved after a multilevel BTX-A treatment, combined with casting, using a set of 90 gait parameters. The most pronounced improvement was seen at the ankle joint. The results in the knee, hip and pelvis imply that multilevel treatment of the child with CP should start at an early age, in order to prevent development of muscle contractures. Slightly more pronounced benefits, mainly in the proximal joints, were seen for the children who were casted after injections as compared to the children who were casted before injections.


Subject(s)
Botulinum Toxins, Type A/therapeutic use , Casts, Surgical , Cerebral Palsy/therapy , Neuromuscular Agents/therapeutic use , Orthopedic Procedures , Biomechanical Phenomena , Botulinum Toxins, Type A/adverse effects , Cerebral Palsy/drug therapy , Cerebral Palsy/surgery , Child , Child, Preschool , Combined Modality Therapy , Electromyography , Female , Gait , Hemiplegia/drug therapy , Hemiplegia/surgery , Hemiplegia/therapy , Humans , Joints/physiopathology , Leg/physiopathology , Male , Muscle, Skeletal/physiopathology , Neuromuscular Agents/adverse effects , Tendons/physiopathology , Treatment Outcome
3.
Eur J Neurol ; 8 Suppl 5: 88-97, 2001 Nov.
Article in English | MEDLINE | ID: mdl-11851737

ABSTRACT

The present study attempts to provide objective evidence of two treatment options for children with cerebral palsy (CP): multilevel botulinum toxin type A (BTX-A) injections and multilevel surgery. The purpose of the study was to clarify the differences and the similarities, and common treatment principles of both treatment strategies. Objective three dimensional gait analysis data were studied retrospectively in two patient groups pre- and post-treatment (randomly selected from a group of children that were treated between 1998 and 1999). In the first group, 29 children with CP were managed with BTX-A injections according to an integrated multilevel approach (Molenaers et al., 1999a). A second group of 23 children with CP were managed by a more traditional single event multilevel surgery, also according to an integrated approach. Our aim was to evaluate the differences as well as the similarities between both patient groups, using a set of 56 parameters selected from three-dimensional gait analysis. The unifying concept between management with BTX-A injections and orthopaedic surgery was the adoption of a multilevel approach at one session. The groups demonstrated considerable differences with respect to age, pretreatment condition and amount and level of improvement after treatment. The children who received BTX-A were typically younger, and showed primary gait problems in the distal joints, whereas the children who underwent surgery demonstrated a higher frequency of gait deviations in the transverse plane and had more complications. Although the benefit of both treatments was confirmed by the present study, a difference in the amount and level of improvement was also demonstrated. In conclusion, these treatment modalities should be regarded as complementary rather than mutually exclusive treatments, with both calling for an integrated approach.


Subject(s)
Botulinum Toxins, Type A/therapeutic use , Cerebral Palsy/therapy , Neuromuscular Agents/therapeutic use , Orthopedic Procedures , Adult , Biomechanical Phenomena , Cerebral Palsy/drug therapy , Cerebral Palsy/surgery , Child , Child, Preschool , Combined Modality Therapy , Dose-Response Relationship, Drug , Female , Gait , Humans , Male , Muscle, Skeletal/physiopathology , Muscle, Skeletal/surgery , Retrospective Studies , Tendons/physiopathology , Tendons/surgery , Treatment Outcome
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