Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes.

BACKGROUND: Progressive equinovarus deformities are common in people with Duchenne Muscular Dystrophy (DMD); they may provoke pain, pressure spots, cause problems with wearing footwear, and may lead to an unstable sitting position. OBJECTIVE: Explore indications and compare complications and long-term outcomes after soft tissue and osseous interventions in people with DMD. METHODS: Retrospective, monocenter, longitudinal study. Data on indications, equinus and varus deformity before and after surgery, wound healing problems, 'pain', edema, and long-term outcomes were collected from medical files. Soft tissue interventions were compared with osseous interventions. RESULTS: From a series of 18 patients, data on 32 surgical interventions and 169 follow-up visits were analyzed. 'Footrest placement' was the most frequent surgical indication, followed by pain. Osseous interventions were performed in older patients with rigid deformities. Directly after surgery remaining deformities were reported after soft tissue interventions (18 %), no remaining deformities were reported after osseous interventions. Pain and edema were frequently present, especially after osseous surgery. Longitudinal follow-up showed that surgical interventions could lead to a neutral foot for a for more than 3 years on average years. Relapses of foot deformity occurred, especially the recurrence of varus deformity after osseous interventions. CONCLUSIONS: Surgical interventions can successfully lead to a neutral foot position for for more than 3 years on average. Soft tissue interventions appear to be superior to osseous corrections, considering the varus recurrence period and complications, and may be considered when feet are still (partly) correctable. Pain management and edema prevention should be anticipated before surgery. Future research on patient reported outcomes as well as evaluating the outcome of the initial indication is needed to further identify benefits.

Ataxia-telangiectasia: recommendations for multidisciplinary treatment.

Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition. Furthermore, it provides a practical guide with evidence- and expert-based recommendations for the follow-up and treatment of all these different clinical topics.

Self-perception and quality of life in adolescents during treatment for a primary malignant bone tumour.

PURPOSE: Adolescents experience physical and psychosocial changes as part of their normal development. It can be hypothesized that they have lower scores on Quality of Life (QoL) and self-perception when additional changes occur due to cancer treatment. The purpose of our study was to assess self-perception and QoL of adolescents during or up to three months after adjuvant treatment for a primary malignant bone tumour. METHODS: Ten adolescent patients (median age of 15 years) were included. Every patient was matched with two healthy peers. Participants completed the dutch version of the Self Perception Profile of Adolescents (SPPA) to measure self-perception and the KIDSCREEN-52 questionnaire for QoL. For both instruments, normative data were available. RESULTS: Adolescents with a bone tumour had consistently lower scores on QoL as compared to healthy peers. Significantly on domains: physical well-being (P < 0.002), autonomy (P = 0.02), social support (P = 0.04) and school environment (P = 0.02). Scores on self-perception in this group were similar in both the study and control group. CONCLUSIONS: Adolescents with a primary malignant bone tumour during or up to three months after adjuvant treatment had lower scores on QoL (KIDSCREEN-52), significantly on domains of physical well-being and social functioning. Unlike most other quality of life instruments, the KIDSCREEN-52 contains different areas of social functioning and has shown to be a useful instrument in our patient group. Scores on self-perception in this group were similar in both study and control group.

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotype-phenotype correlations, we evaluated the clinical and laboratory data of 51 genetically proven A-T patients, and additionally measured ATM protein expression and kinase activity. Patients without ATM kinase activity showed the classical phenotype. The presence of ATM protein, correlated with slightly better immunological function. Residual kinase activity correlated with a milder and essentially different neurological phenotype, absence of telangiectasia, normal endocrine and pulmonary function, normal immunoglobulins, significantly lower X-ray hypersensitivity in lymphocytes, and extended lifespan. In these patients, cancer occurred later in life and generally consisted of solid instead of lymphoid malignancies. The genotypes of severely affected patients generally included truncating mutations resulting in total absence of ATM kinase activity, while patients with milder phenotypes harbored at least one missense or splice site mutation resulting in expression of ATM with some kinase activity. Overall, the phenotypic manifestations in A-T show a continuous spectrum from severe classical childhood-onset A-T to a relatively mild adult-onset disorder, depending on the presence of ATM protein and kinase activity. Each patient is left with a tremendously increased cancer risk.

Beyond disability: perceived participation in people with a chronic disabling condition.

OBJECTIVE: To describe the impact of a chronic disabling condition on participation and to identify variables that may explain perceived restrictions in participation. STUDY DESIGN: Cross-sectional. SETTING: People were recruited from the outpatient clinics of two rehabilitation centres and the rehabilitation department of an academic hospital. SUBJECTS: One hundred and twenty-six people from five diagnostic groups (neuromuscular disease, rheumatoid arthritis, spinal cord injury, stroke, fibromyalgia) participated in the study. METHOD: The IPA (Impact on Participation and Autonomy) questionnaire was used to describe perceived participation. Explanatory variables were studied in terms of sociodemographic factors and health status variables. RESULTS: Some restrictions in participation seem comparable among diagnostic groups, others are specific to one or two groups. People with stroke, rheumatoid arthritis or fibromyalgia perceived more restrictions in participation than people with spinal cord injury or neuromuscular disorders. Emotional distress was the most important factor contributing to restrictions in participation. CONCLUSIONS: Perceived participation remains a complex concept in which many factors are involved. To make a contribution to meaningful participation of people with a chronic disabling condition, rehabilitation treatment should address physical, social, emotional and environmental aspects.