Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here we report a two-part update of the topics covered in the previous recommendations. In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management. Pulmonary management, acute care, other organ involvement, ethical issues, medications, and the impact of new treatments for SMA are discussed in part 2.

Introduction: The proprioceptive neuromuscular facilitation-concept (PNF-concept) is a widely used rehabilitation concept, and is in many countries part of the undergraduate curriculum of physiotherapy education. It is also offered in postgraduate training worldwide. The modern physiotherapist is confronted with the application of evidence-based practice; therefore, the aim of this review is to summarize the available evidence for this rehabilitation concept. Method: A search was completed using Pubmed, ScienceDirect, PEDro, Cochrane library and the International PNF Association website. An evidence-based practice approach has been promoted in the field of physiotherapy since the early 1990s, hence we limited the search from 1990 until 2014. Major findings: Seventy-four sources that were found were categorized in: (A) PNF philosophy, (B) PNF basic principles and procedures, (C) PNF techniques in rehabilitation. In the reviewed publications, a variety of indications and subject populations were identified including: neurological, musculoskeletal, pulmonary, geriatric and mixed disorders. The publications varied in type and quality, ranging from case studies, clinical trials, randomized controlled trials and reviews. This variety of publications, treatment indications and outcome measures in the publications warranted a narrative review Discussion and conclusion: The scope and diversity of articles in the review make it difficult to study the PNF-concept in a methodical way, since different components of a comprehensive rehabilitation approach may act as confounders when measuring the effects of one specific part of the approach. There is a substantial body of research which supports the use of PNF as a comprehensive rehabilitation concept. The literature also describes that the PNF-concept is applied in clinical practice in a variety of populations and indications; however, efficacy for specific indications and populations requires further investigation.

The purpose of this study was to investigate the functional relationships between selected ranges of motion of the neck, upper and lower limbs, the strength of the neck and trunk muscles, postural parameters, and the motor function of children with SMA1 and SMA2—27 children, aged 6 months-15 years, with genetically confirmed spinal muscular atrophy type 1 (19 children) and 2 (8 children) undergoing pharmacological treatment. All children were examined, according to the methodology, including the motor function evaluation, measurement of selected ranges of motion, assessment of postural parameters, and measurement of neck and trunk muscle strength. The functional status of 15 children was assessed with the CHOP INTEND (CHOP group) scale and of 12 children with the HFMSE (HFMSE group). The results obtained showed that, in children examined with the CHOP scale, greater limitation of flexion in the shoulder joints was observed. As the deformation of the chest increased, the functional abilities of children deteriorated. In participants examined with the CHOP group, the ranges of neck rotation decreased with the increase of the chest deformity. In the HFMSE group, the ranges of head rotation showed a strong relationship with some parameters of muscle strength and the sum of the R coefficients. Participants showed many significant relationships between the range of motion in the neck and joints of the limbs, with more significant relationships in the CHOP group. The following conclusions were made: motor skills of children with SMA depend on muscle strength, range of motion, and deformities of the spine and chest; the development of scoliosis adversely affects the motor function, ranges of motion, and muscle strength; and movement ranges are related to motor skills and strength values.

Introduction: Central nervous system damage in early life results in both quantitative and qualitative abnormalities of psychomotor development. Late sequelae of these disturbances may include visual perception disorders which not only affect the ability to read and write but also generally...

Impairment of spine rotation is a key concept in several theories explaining the pathogenesis and progression of scoliosis. In previous studies, a more limited range of motion in scoliotic girls compared to their non-scoliotic peers was noted. The Trunk-Pelvis-Hip Angle measurement is a test used to assess the range of motion in the trunk-pelvis-hip complex in the transverse plane. The aim of this study was to assess an immediate effect of Proprioceptive Neuromuscular Facilitation specific mobilization (mPNF) on the angle of trunk rotation and Trunk-Pelvis-Hip Angle range of motion in adolescent girls with double scoliosis. The study was conducted on 83 girls aged 10 to 17 years (mean 13.7 ± 1.9) with double idiopathic scoliosis consisting of a right-sided thoracic curve (mean 25.1° ± 13.9°) and a left-sided thoracolumbar or lumbar curve (mean 20.8° ± 11.4°). The angle of trunk rotation and Trunk-Pelvis-Hip Angle were measured at baseline and after PNF mobilization. Bilateral lower limb patterns of Proprioceptive Neuromuscular Facilitation were used in combination with the “contract–relax” technique and stimulation of asymmetrical breathing. In the statistical analysis, the SAS rel. 13.2 software was used. Preliminary statistical analysis was performed using descriptive statistics. According to Shapiro-Wilk criterion of normality, the Wilcoxon test was used to compare paired samples. Next, the data was analyzed using multivariate GLM models. In adolescent girls with double scoliosis, significant differences between the left and right side of the body concerning the Trunk-Pelvis-Hip Angle ranges were noted. A single, unilateral PNF mobilization significantly decreased the angle of trunk rotation in the thoracic (p < 0.001) and lumbar spine (p < 0.001). Unilateral PNF mobilization also increased the Trunk-Pelvis-Hip Angle ranges on the left (p < 0.001) and right (p < 0.001) side significantly. Unilateral PNF mobilization led to a decrease in the angle of trunk rotation, improvement in the range of motion, and the symmetry of mobility in the transverse plane in the trunk-pelvis-hip complex in adolescent girls with double idiopathic scoliosis. The effects should be treated only as immediate. Further studies are required to determine long-term effects of PNF mobilization on the spinal alignment. ISRCTN11750900 .

The majority of individuals with spinal muscular atrophy (SMA) experience progressive skeletal deformities which may affect the quality of life and mobility. To date, no studies have evaluated the reliability of tests assessing body posture and joint mobility in SMA patients. The purpose of this study was to assess the reliability of Cervical Rotation test (CR), Supine Angle of Trunk Rotation test (SATR), Hip Extension test (HE) and Pelvic Obliquity test (PO) developed to evaluate the musculoskeletal system in SMA individuals. Thirty individuals (12 girls and 18 boys) aged 4–15 with SMA type II (n = 24) and III (n = 6) confirmed by genetic examinations were qualified for the study. The participants were examined twice by three physiotherapists on the same day. The examination included four tests, i.e. CR, SATR, HE and PO tests aimed at assessing ranges of rotation in the cervical spine, chest deformities, ranges of hip extension and pelvis position while sitting. Statistical calculations were made with the use of statistical software IBM SPSS Statistics version 20. Reliability was assessed using the Intraclass Correlation Coefficient (ICC). Intraobserver reliability was excellent for CR (ICC range 0.839–0.911), SATR (ICC range 0.918–0.939 - the upper part of the sternum; ICC range 0.951–0.975 - the lower part of the sternum), HE (ICC range 0.988–0,991) and PO (ICC range 0.896–0.935) tests. The interobserver ICC reached the excellent values in CR (ICC range 0.912–0.920), SATR (ICC = 0.888 - the upper part of the sternum, ICC = 0.951 - the lower part of the sternum), HE (ICC range 0.922–0.923) and PO (ICC = 0.928) tests. CR, SATR, HE and PO tests are reliable and may be used for examining individuals with SMA. The application of these tests provides a possibility to detect early changes in the musculoskeletal system in children and adolescents and to assess the effectiveness of the implemented pharmacotherapy and rehabilitation.