Development Of Motor Function Research Articles

Ultrasonographic Evaluation of Morphological Changes in Peripheral Nerves after Traumatic Injury and Nerve Repair – A Prospective Study

Abstract Purpose Ultrasound (US) has gained in importance for the visualization of morphological changes of injured nerves. After surgical repair, changes in neural structures are seen over time. The correlation of morphologic changes in US with the corresponding nerve function is uncertain. The aim of this study is to determine a correlation of post-traumatic morphological nerve changes with US and with nerve function after surgery. Materials and Methods This dual-center, prospective cohort study was conducted between 2017 and 2022 and included 20 mixed sensory motor nerve lesions. Patients were followed up clinically (sensitivity, pain, and motor function) with US and electroneuromyography. We determined the US changes of the nerves including the interaction of the tissue after nerve repair and any correlation with nerve function. With US nerve cross-sectional area (CSA), the number of traversing fascicles, hypo-echogenicity, and presence of perineural scar were analyzed. Results 20 lesions (12 median and 8 ulnar nerves) of 18 patients with intraoperatively confirmed nerve injury of at least 50% in the forearm were included. The average CSA was over 20 mm2 throughout the follow-up period, corresponding to a neuroma in continuity compared to the opposite side (10.75 mm2). Sensibility and motor function at 12 months were 6xS3/4 and 10xM3-5. There was a statistically significant correlation between continuous fascicles on US at 6 months and sensitivity at 12 months. Conclusion This study supports the presence of post-traumatic morphological changes in nerve fibers with US after traumatic injury. Morphological changes in nerve structure after trauma can be detected with US indicating a correlation between continuity of nerve fascicles and development of sensitivity and motor function.

Emphasis on the importance of comprehensive clinical and genetic analysis - spinal muscular atrophy combined with phenylketonuria: A case report.

Both spinal muscular atrophy (SMA) and Phenylketonuria (PKU) are caused by biallelic pathogenic mutations. However, there has been no report on case who suffering from both diseases simultaneously. SMA mainly affects the motor function while PKU may have an impact on both the intelligence and motor function. But if only 1 disease is treated while neglecting the other, the treatment effect will be compromised. Here, for the first time, we report a case from China diagnosed with both these diseases and treated properly. A boy was admitted to the Children's Hospital Affiliated to Shandong University (Jinan, China) due to "limb weakness for 19 months" when he was 22 months old. Considering that the child's motor function development is delayed, we made a comprehensive examinations including inherited metabolic diseases and found a significantly increase of phenylalanine concentration in the blood which indicating PKU. Combined with his typical clinical manifestations of SMA, target capture sequencing followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) technologies were used for genetic confirmation. SMA and PKU was confirmed. The child was treated with risdiplam and low phenylalanine formula immediately when he was diagnosed with both SMA and PKU. The child showed remarkable improvement in motor function and significant decrease of blood phenylalanine concentration after treatment. To our knowledge, this is the first reported case of SMA combined with PKU. This case expands our understanding of diagnosis for synchronous SMA and PKU and highlights the importance of comprehensive examinations and the utilizing of various genetic testing methods to make an accurate diagnosis of genetic diseases, which may help avoiding the progressive damage caused by certain genetic disease with insidious clinical symptoms.

Impact of transcranial electrical stimulation on serum neurotrophic factors and language function in patients with speech disorders.

Speech disorders have a substantial impact on communication abilities and quality of life. Traditional treatments such as speech and psychological therapies frequently demonstrate limited effectiveness and patient compliance. Transcranial electrical stimulation (TES) has emerged as a promising non-invasive treatment to improve neurological functions. However, its effectiveness in enhancing language functions and serum neurofactor levels in individuals with speech disorders requires further investigation. To investigate the impact of TES in conjunction with standard therapies on serum neurotrophic factor levels and language function in patients with speech disorders. In a controlled study spanning from March 2019 to November 2021, 81 patients with speech disorders were divided into a control group (n = 40) receiving standard speech stimulation and psychological intervention, and an observation group (n = 41) receiving additional TES. The study assessed serum levels of ciliary neurotrophic factor (CNTF), glial cell-derived neurotrophic factor (GDNF), brain-derived neurotrophic factor (BDNF), and nerve growth factor (NGF), as well as evaluations of motor function, language function, and development quotient scores. After 3 wk of intervention, the observation group exhibited significantly higher serum levels of CNTF, GDNF, BDNF, and NGF compared to the control group. Moreover, improvements were noted in motor function, cognitive function, language skills, physical abilities, and overall development quotient scores. It is worth mentioning that the observation group also displayed superior performance in language-specific tasks such as writing, reading comprehension, retelling, and fluency. This retrospective study concluded that TES combined with traditional speech and psychotherapy can effectively increase the levels of neurokines in the blood and enhance language function in patients with speech disorders. These results provide a promising avenue for integrating TES into standard treatment methods for speech disorders.

Quality of life after necrotizing enterocolitis: an integrative review.

To describe the long-term health outcomes of neonates affected by necrotizing enterocolitis (NEC) and its implications for quality of life. This is an integrative review, conducted by searching the literature in the following databases: Virtual Health Library (BVS), Latin American and Caribbean Health Sciences Literature (LILACS), Medical Literature Analysis and Retrieval System Online (MEDLINE), and PubMed, using Health Sciences Descriptors (DeCS): "necrotizing enterocolitis," "quality of life," and "prognosis" combined with the Boolean operators AND and OR: "quality of life" OR "prognosis." Inclusion criteria were: publication period between 2012 and 2022. A total of 1,010 studies were located, of which ten were selected to comprise the bibliographic sample of this review. Children with NEC are prone to exhibit cognitive neurological impairment, especially those who undergo surgical procedures due to more severe conditions. Motor development was considered below average when compared to healthy children, with more noticeable delays in fine and gross motor function development. The search for the relationship between NEC and quality of life revealed that this condition has a negative impact on the well-being of affected individuals. NEC has proven to be a serious condition contributing to high rates of morbidity and mortality in newborns, potentially leading to a reduction in the quality of life of affected patients.

High-calorie, whole protein/peptide nutritional formulations for children with cerebral palsy: a retrospective clinical study.

Children with cerebral palsy often experience inadequate nutritional intake due to factors like anorexia, intellectual impairments, underdeveloped motor skills of the oral sensory system, and eating and swallowing disorders. These challenges not only hinder their rehabilitation but also impose various degrees of burden on society and their families. Addressing malnutrition in children with cerebral palsy has become a pressing international clinical issue. This study assessed the nutritional status of children with cerebral palsy and examined the impact of a high-calorie enteral nutrition formula as a nutritional intervention. This retrospective study involved 132 malnourished children with cerebral palsy undergoing rehabilitation at the First People's Hospital of Yulin City from July 2020 to July 2023. Sixty-six children received conventional nutritional interventions after their parents were educated and trained in dietary practices and feeding techniques, forming the general group. The other sixty-six children were given a high-calorie intact protein or short peptide enteral nutrition formula milk powder (Nuiren JUNIOR or Peptamen Junior), and were referred to as the nutrient group. Data on anthropometric measurements, blood indicators, gross motor function, and adverse events were collected at baseline, three months, and six months. After 6 months of intervention, both groups showed improvements in height, weight, weight-for-height Z-score, weight-for-age Z-score and gross motor function. There were statistical differences in height change, body mass index-for-age Z-score, and gross motor function between the two groups (P<0.05). The efficiency of nutritional intervention was significantly higher in the nutrient group than in the general group (P<0.05). In addition, total albumin, albumin, prealbumin, and 25-hydroxyvitamin D levels were higher in the nutrient group than in the general group (P<0.05). An incidence of side effects was observed in 15.15% of the children in the general group and 9.09% in the nutrient group, without significant difference (χ2=1.138, P=0.286). High-calorie whole protein or peptide nutritional formulas can significantly improve malnutrition and enhance gross motor function development in children with cerebral palsy and has a low incidence of adverse events. These interventions hold promise for broader clinical application.

Early psychomotor development and growth hormone therapy in children with Prader-Willi syndrome: a review.

Prader-Willi syndrome (PWS) is a rare genetic disorder caused by the loss of imprinted gene expression on the paternal chromosome 15q11-q13. PWS is characterized by varying degrees of early psychomotor developmental deficits, primarily in cognition, language, and motor development. This review summarizes the early mental cognitive development, language development, and motor development in patients with PWS, compares the correlation of genotype with phenotype, and provides an update regarding the effects and concerns related to potential main side effects of treatment with recombinant human growth hormone on early psycho-cognitive and motor function development along with the linear growth and body composition of children with PWS.Conclusion: Early psychomotor development is strongly correlated with the prognosis of patients with PWS; moreover, current studies support that the initiation of interventions at an early age can exert significant beneficial effects on enhancing the cognitive and linguistic development of patients with PWS and allow them to "catch up" with motor development. What is Known: • Prader-Willi syndrome is a rare genetic disorder characterized by multisystem damage, andchildren with Prader-Willi syndrome are typically characterized by early developmental delays, specifically in the areas of cognitive and motor development. •Recombinant human growth hormone therapy is the only medical treatment approved for Prader-Willi syndrome. What is New: •Extensive presentation of psycho-cognitive and motor development features and genotype-phenotype correlation in children with Prader-Willi syndrome. • The effects of growth hormone on early psychomotor development in children with Prader-Willi syndrome were thoroughly reviewed, including their short- and long-term outcomes and any associated adverse effects.

Antidepressants use during pregnancy and child psychomotor, cognitive and language development at 2years of age-Results from the 3D Cohort Study.

Introduction: Approximately 5.5% of pregnant women take antidepressants. Studies on prenatal exposure to antidepressants reported no association with child cognition, and inconsistent results with motor function and language development. A limitation has been the failure to adjust for prenatal maternal distress. Objectives: Assess the associations between prenatal exposure to antidepressants and child development at age two, while adjusting for maternal depressive symptoms and stress during pregnancy. Explore indirect effects through birth complications and consider sex-specific associations. Methods: This is an ancillary study of the 3D (Design Develop, Discover) Study initiated during pregnancy. Data on antidepressants were collected through medication logs spanning the entire pregnancy. Depressive symptoms and stress were assessed during pregnancy by self-reported questionnaires, motor and cognitive development with the Bayley Scales of Infant and Toddler Development (BSID-III), and language development with the MacArthur Communicative Development Inventories at age 2. Multiple linear regressions were used to assess the associations between exposure and developmental outcomes. Mediation models were used to assess indirect effects. Interaction terms were introduced to assess sex-specific associations. Results: 1,489 mother-child dyads were included, of whom 61 (4.1%) reported prenatal antidepressant use. Prenatal exposure was negatively associated with motor development (B = -0.91, 95% CI -1.73, -0.09 for fine motor, B = -0.89, 95% CI -1.81, 0.02 for gross motor), but not with cognitive (B = -0.53, 95% CI -1.82, 0.72) and language (B = 4.13, 95% CI -3.72, 11.89) development. Adjusting for maternal prenatal distress only slightly modified these associations. No indirect effect or differential effect according to child sex were found. Conclusion: This study supports evidence of a negative association between prenatal exposure to antidepressants and motor development at age two, after adjusting for maternal distress, but the effect size remains very small, with about only one BSID-III point lower in average.

Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities.

Variants in UBA5 have been reported to cause neurological disease with impaired motor function, developmental delay, intellectual disability and brain pathology as recurrent clinical manifestations. UBA5 encodes a ubiquitin-activating-like enzyme that activates ufmylation, a post-translational ubiquitin-like modification pathway, which has been implicated in neurodevelopment and neuronal survival. The reason behind the variation in severity and clinical manifestations in affected individuals and the signal transduction pathways regulated by ufmylation that compromise the nervous system remains unknown. Zebrafish have emerged as a powerful model to study neurodegenerative disease due to its amenability for in vivo analysis of muscle and neuronal tissues, high-throughput examination of motor function and rapid embryonic development allowing an examination of disease progression. Using clustered regularly interspaced short palindromic repeats-associated protein 9 genome editing, we developed and characterized zebrafish mutant models to investigate disease pathophysiology. uba5 mutant zebrafish showed a significantly impaired motor function accompanied by delayed growth and reduced lifespan, reproducing key phenotypes observed in affected individuals. Our study demonstrates the suitability of zebrafish to study the pathophysiology of UBA5-related disease and as a powerful tool to identify pathways that could reduce disease progression. Furthermore, uba5 mutants exhibited widespread mitochondrial damage in both the nervous system and the skeletal muscle, suggesting that a perturbation of mitochondrial function may contribute to disease pathology.

Scoping Review: Brachial Plexus Birth Injury (BPBI) and Gross Motor Function

Purpose: Brachial plexus birth injury (BPBI) is a neonatal injury occurring in 1.24 in 1000 live births. The result of this injury on arm function is highly variable and has been the subject of many studies. However, the effect of BPBI on the development of overall gross motor function is less well studied. We aimed to synthesize the available literature on posture, balance and coordination, and gait in children with BPBI. Method: A scoping review was conducted by searching five databases (MEDLINE, EMBASE, CINAHL, PEDro, and Web of Science) and the grey literature for all study types related to our question. Studies unrelated to birth injuries, animal studies, and literature reviews were excluded. Three researchers independently screened the studies during two rounds of review (title/abstract and full-text). Results: Of the 2728 articles found, 16 articles were included. Overall, the average study quality was 0.90 out of 1.00. These studies suggest that observed postural deficits in BPBI are secondary to asymmetry rather than true scoliosis. Further, the asymmetrical nature of the injury results in both balance deficits and gait abnormalities when compared to healthy age-matched populations. Conclusions: The scoping review demonstrates that while there are obvious consequences to overall motor function and development in BPBI, these effects are likely under-studied. Further research should focus on understanding overall developmental differences in children with BPBI. Expanding on this information could possibly allow for earlier intervention, extended scope of physiotherapy, and better functional outcomes.

Effects of Ballet &amp; Dance Programs on Gross Motor Skills in Children With Intellectual &amp; Developmental Disabilities: A Scoping Review

Abstract Date Presented 04/21/2023 The purpose of this study was to systematically review the best available evidence regarding ballet and dance therapy for children with intellectual disabilities. Of the 21 articles, 20 found statistically significant improvements in gross motor function and social development. Dance therapy is a unique form of therapy within the OT scope of practice because it uses the activity or occupation of dance to promote play, enhance mobility, and improve performance skills. Primary Author and Speaker: Phil Esposito Additional Authors and Speakers: Corinne Marascio

Treatment of spinal muscular atrophy with Onasemnogene Abeparvovec in Switzerland: a prospective observational case series study

BackgroundSpinal muscular atrophy (SMA) is a rare neuromuscular disorder leading to early death in the majority of affected individuals without treatment. Recently, targeted treatment approaches including Onasemnogene Abeparvovec (OA) were introduced. This study describes the first real-world experience with OA in Switzerland.MethodsProspective observational case series study using data collected within the Swiss Registry for Neuromuscular Disorders from SMA patients treated with OA. Development of motor, bulbar and respiratory function, appearance of scoliosis, and safety data (platelet count, liver function, and cardiotoxicity) were analyzed.ResultsNine individuals were treated with OA and followed for 383 ± 126 days: six SMA type 1 (of which two with nusinersen pretreatment), one SMA type 2, and two pre-symptomatic individuals. In SMA type 1, CHOP Intend score increased by 28.1 from a mean score of 20.5 ± 7.6 at baseline. At end of follow-up, 50% of SMA type 1 patients required nutritional support and 17% night-time ventilation; 67% developed scoliosis. The SMA type 2 patient and two pre-symptomatically treated individuals reached maximum CHOP Intend scores. No patient required adaptation of the concomitant prednisolone treatment, although transient decrease of platelet count and increase of transaminases were observed in all patients. Troponin-T was elevated prior to OA treatment in 100% and showed fluctuations in 57% thereafter.ConclusionsOA is a potent treatment for SMA leading to significant motor function improvements. However, the need for respiratory and especially nutritional support as well as the development of scoliosis must be thoroughly evaluated in SMA type 1 patients even in the short term after OA treatment.

Validation of the Motor Functional Development Scale for Young Children to predict motor outcome in preterm infants: A 2 years follow-up study

ABSTRACT Objective To examine the validity of the Motor Functional Development Scale for Young Children (DF-mot) to predict motor developmental delays in preterm infants. Method This retrospective cohort study includes 67 preterm infants who were assessed at 3–5 months by the DF-mot and the Alberta Infant Motor Scale (AIMS); and at 22–25 months by the Bayley Scales of Infant-Toddler Development (Bayley-III). The properties of the DF-mot and the AIMS were examined based on their ability to predict motor delays on the Bayley-III. Results The DF-mot gross motor subscale −2 SD and the AIMS 10th centile showed best balance between sensitivity and specificity (respectively Se = 57.1%, Sp = 71.7% and Se = 50%, Sp = 73.5%). Overall, the DF-mot fine motor subscale fails to predict motor delays. Conclusion The DF-mot shows a lack of sensitivity and of positive predictive value to accurately predict motor outcome at 2 years in preterm infants. Abbreviations CA, Corrected age; AIMS, Alberta Infant Motor Scale; DF-mot/PML, Motor Functional Development Scale for Young Children postural motor locomotor; DF-mot/EHGC, Motor Functional Development Scale for Young Children eye-hand grip coordination; Bayley-III/GM, Gross motor subscale of the Bayley Scales of Infant-Toddler Development Third Edition; Bayley-III/FM, Fine motor subscale of the Bayley Scales of Infant-Toddler Development Third Edition.

Electrophysiological Study in the Right Upper and Lower Limbs in Infants with Lumbosacral Meningomyelocele and in Normal Infants: A Case-control Study.

The study aimed to assess the electrophysiological parameters (Hofmann reflex [H-reflex] and motor nerve conduction velocity [MNCV]) on children's upper and lower limbs with lumbosacral meningomyelocele (MMC) and age-matched control to see the effect of the MMC on the cervical segment of the spinal cord. The present study was performed on infants with lumbosacral MMC. Twenty-five infants were examined with a mean age of 50 days of either sex. Out of them, 13 infants were in control and the remaining 12 were diagnosed with MMC. The H-reflex parameter and MNCV were recorded in these children's right upper and lower limbs. H-reflex was elicited in all the control group babies. In MMC, the H-reflex was elicited in the upper limbs. However, H-reflex was not elicited in the lower limbs of a few MMC babies. The upper limb's H-reflex parameters and conduction velocity were significantly higher than those corresponding lower limbs in control babies. In MMC, where the H-reflex was elicited, such differences in the lower and upper limbs were not observed. However, the values of MNCV in the upper limb (right median nerve) were significantly less, and the values of Hmax in the lower limb (soleus muscle) were significantly more in MMC babies than in the control group. The values of electrophysiological parameters were higher in the upper limbs as compared to the corresponding lower limbs in control. These values were not altered in the upper limbs than those corresponding lower limbs of MMC, suggesting that motor function development was impaired/delayed in the spinal segment cranial to MMC lesion, and motor impairment in MMC children is mostly a result of upper motor neuron dysfunction.

Cannabinoids: new friends in bone fracture and in joint disease prevention?

n recent years the endocannabinoid system (ES) has been recognized to play an important role in the regulation of several physiological processes, including pain perception, appetite control, and motor function development. This system has recently been recognized to be present in bone and joint tissues, playing a role in the regulation of bone and joint physiology. The ES seems to play its role mainly by acting on its receptors and thanks to the demonstrated ability of bone cells to synthesize the principal endocannabinoids (i.e., anandamide and 2-arachidonoylglycerol), which can act on bone remodeling and metabolism. Cannabinoids have also been shown to be produced within synovial tissues, and recent studies have shown that cannabinoid receptor ligands are effective in the treatment of inflammatory arthritis. In recent years synthetic endocannabinoid-like compounds and phytocannabinoids, which are the principal components of Cannabis sativa, have also started to be studied as molecules that could play a role not only in bone physiology, but also in the pathogenesis of osteoporosis, the most common bone disease, and in the inflammatory processes underlying osteoarthritis. Accumulating evidence that cannabinoids and their receptors play an important role in bone metabolism and in the regulation of the immune response is now starting to show us the true future therapeutic potential of cannabinoids, and of the phytocannabinoids contained in Cannabis sativa, in the treatment of bone loss and joint diseases. Here we summarize the role of the cannabinoids and their receptors in bone metabolism, osteoporosis, and joint disease.

A Method for Estimating Longitudinal Change in Motor Skill from Individualized Functional-Connectivity Measures.

Pragmatic, objective, and accurate motor assessment tools could facilitate more frequent appraisal of longitudinal change in motor function and subsequent development of personalized therapeutic strategies. Brain functional connectivity (FC) has shown promise as an objective neurophysiological measure for this purpose. The involvement of different brain networks, along with differences across subjects due to age or existing capabilities, motivates an individualized approach towards the evaluation of FC. We advocate the use of EEG-based resting-state FC (rsFC) measures to address the pragmatic requirements. Pertaining to appraisal of accuracy, we suggest using the acquisition of motor skill by healthy individuals that could be quantified at small incremental change. Computer-based tracing tasks are a good candidate in this regard when using spatial error in tracing as an objective measure of skill. This work investigates the application of an individualized method that utilizes Partial Least Squares analysis to estimate the longitudinal change in tracing error from changes in rsFC. Longitudinal data from participants yielded an average accuracy of 98% (standard deviation of 1.2%) in estimating tracing error. The results show potential for an accurate individualized motor assessment tool that reduces the dependence on the expertise and availability of trained examiners, thereby facilitating more frequent appraisal of function and development of personalized training programs.

Long-term neurological cognitive, behavioral, functional, and quality of life outcomes after fetal myelomeningocele closure: a systematic review.

Myelomeningocele is a lifelong condition that features several comorbidities, such as hydrocephalus, scoliosis, club foot, and lower limb sensory and motor disabilities. Its management has progressed over time, ranging from supportive care to early postnatal closure to prenatal closure of the defect. Recent research discovered that fetal myelomeningocele closure (fMMC) provided superior neurological outcomes to those of postnatal closure. When performed at 12 months of age, fMMC can avert or delay the need for a ventriculoperitoneal shunt and reversed the hindbrain herniation. Moreover, fMMC reportedly enhanced motor function and mental development at 30 months of age. However, its long-term outcomes remain dubious. This systematic review aimed to determine the long-term neurological cognitive, behavioral, functional, and quality of life (QoL) outcomes after fMMC. The PubMed, Directory of Open Access Journals, EBSCO, and Cochrane databases were extensively searched for articles published in 2007-2022. Meta-analyses, clinical trials, and randomized controlled trials with at least 5 years of follow-up were given priority. A total of 11 studies were included. Most studies revealed enhanced long-term cognitive, behavioral, functional, and QoL outcomes after fMMC. Our results suggest that fMMC substantially enhanced patients' long-term neurological cognitive, behavioral, functional, and QoL outcomes.

Do our movement skills impact our cognitive skills? Exploring the relationship between cognitive function and fundamental movement skills in primary school children.

The literature suggests that there is a relationship between motor function and cognitive development however, few studies have explored the specific role of Functional Movement Skills on cognitive function. This research aimed to determine if Functional Movement Skills predict cognitive function, when accounting for confounding factors, in a sample of primary school children in Ireland. Cross-sectional. Sixty primary school children (51.7 % girls, age range 7-12 years, mean age 9.9 ± 1.28) were assessed in their Functional Movement Skill proficiency using the Test of Gross Motor Development-3rd Edition and a subtest of the Bruininks-Oseretsky Test of Motor Proficiency 2 Short Form (to assess balance). Participants also completed a series of cognitive tests which formed part of the Cambridge Neuropsychological Test Automated Battery. A series of hierarchical regression analyses were conducted whilst controlling for covariates (Age; Gender; Socio Economic Status). Attention Switching, Reaction Time, and Emotional Recognition were found to be associated with Overall Functional Movement Skills (Locomotor, Object Control, Stability). Overall Functional Movement Skills significantly accounted for 4.7 % of the variance in Simple Reaction Time (ΔR2 = 0.032; p = 0.13) whilst Stability significantly accounted for 5.5 % (ΔR2 = 0.055; p = 0.04) and 12.9 % (ΔR2 = 0.129; p = 0.00) of the variance in Simple Reaction Time and Emotional Recognition, respectively, after controlling for covariates. Overall Functional Movement Skills may be more related to reaction time than attention and spatial working memory, whilst stability may be more associated with emotional recognition. Further research is warranted. Greater comprehension of the impact of Functional Movement Skills on cognitive function in children can contribute to the development of more effective and efficient physical activity programmes, which can in turn contribute to and promote holistic child development.

Development of the Gross Motor Function Family Report (GMF-FR) for Children with Cerebral Palsy.

Purpose: To describe the initial steps in the development of a family-completed, modified version of the Gross Motor Function Measure (GMFM-88) to report gross motor function of young people with cerebral palsy in their natural environments. Methods: Development of the Gross Motor Function - Family Report (GMF-FR) was based on expert opinion involving 13 experienced clinicians and researchers, in four steps: (1) item identification to target items that reflect functional gross motor performance; (2) item selection; (3) critical analysis of the items; and (4) item and scoring modification. Results: Several modifications to existing items and scoring were made, including wording changes to optimize ease of families' understanding, the addition of photographs to illustrate all items, changes to the items to enable use of furniture instead of specialized equipment, and modifications to scoring criteria to ensure a focus on functional motor skills. Ultimately, 30 items were selected, and specific testing/scoring instructions were created for each item. Conclusions: GMF-FR is a new family-report tool, based on the GMFM-88. When validated, it can be used as a telehealth outcome measure to capture family-reported functional motor skill performance in home and community environments.

Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland

Spinal muscular atrophy (SMA) is an autosomal recessive disorder causing progressive proximal muscular, respiratory, and bulbar weakness. We present outcome data on motor function, ventilation, nutrition, and language development of SMA patients treated with nusinersen in Switzerland. This multicenter, observational study included 44 patients. At treatment initiation, after 2 months and then every 4 months we assessed motor function with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP–INTEND), Hammersmith Functional Motor Scale expanded (HFMSE) and 6-Minute Walk Test (6MWT). At treatment initiation, patients were 0.1–44.6 years old, treatment duration ranged from 6 to 41 months. All 11 SMA type 1 children achieved higher CHOP-INTEND scores at the last assessment compared to treatment initiation, 4 acquired stable sitting. Six type 1 children were <18 months-old at treatment initiation. Two of them did not need ventilation or nutritional support at the last assessment; three had delayed language development and 3 articulation difficulties. 5/21 SMA type 2 patients achieved higher HFMSE scores. All ambulant type 3 patients showed a gain in the 6MWT. Nusinersen is an effective treatment, with gains in motor function occurring particularly in children and SMA type 1, but also in type 2 and 3, adolescents and adults.

Components of the Endocannabinoid System and Effects of Cannabinoids Against Bone Diseases: A Mini-Review.

Background: The endocannabinoid system (ECS) is involved in multiple physiological processes, including appetite regulation, pain perception, motor function development, and immune response regulation. Cannabinoids have been approved for the clinical treatment of nausea and vomiting caused by cytostatic therapy or cancer chemotherapy, loss of appetite in HIV/AIDS-associated cachexia, refractory spasms induced by multiple sclerosis, chronic pain, and urinary incontinence. Methods: Check out the research on ECS and bone diseases in the past 20 years. Results: Many studies have demonstrated that endocannabinoids (eCBs) and cannabinoid receptors (CBRs) are expressed in bone and synovial tissues, playing important roles in bone metabolism. Preclinical studies using cannabis-based therapies in animal models have shown that cannabinoids (CBs) can alleviate the development of osteoarthritis (OA), prevent osteoporosis (OP), reduce cancer-induced osteolytic destruction, and improve fracture healing, highlighting the therapeutic potential of CBs for human bone diseases. Conclusions: The present review summarizes various components of the ECS in bone diseases and their potential as a therapeutic target.