Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3.

INTRODUCTION/AIMS: Current upper limb assessments in pediatric spinal muscular atrophy (SMA) may not adequately capture change with disease progression. Our aim was to examine the relationship between motor function, strength, and hand/finger mobility of the upper limb in treatment-naïve children with SMA Types 2 and 3 to assess new methods to supplement current outcomes. METHODS: The Revised Upper Limb Module (RULM), grip and pinch strength, and hand/finger mobility data were collected from 19 children with SMA Types 2 and 3 aged 5.2-16.9 years over a year. RESULTS: A median loss between 0.5 and 2.5 points in the RULM was seen across all SMA subgroups with the biggest median loss recorded between 10 and 14 years of age. The grip strength loss was -0.06 kg (-4.69 to 3.49; IQR, 1.21); pinch improvement of 0.05 (-0.65 to 1.27; IQR, 0.48); hand/finger mobility test improvement of 4 points (-24 to 14; IQR, 6.75) for the whole cohort. Significant correlations were found between the RULM and grip strength (p < .001), RULM and pinch strength (p < .001), RULM and revised Brooke (p < .001), grip strength and pinch strength (p < .001). DISCUSSION: The combined use of the RULM, dynamometry, and hand mobility provide insight about correlations between function and strength in children with SMA. The RULM and grip strength assessments captured a significant decline in upper limb function, whereas the pinch and finger/hand mobility showed an improvement over the course of 1 year and these results should be considered for future studies.

The impact of instrumented gait analysis on decision-making in the interprofessional management of cerebral palsy: A scoping review.

BACKGROUND: Management of gait-related problems in children and young people with Cerebral Palsy (CYPwCP) is complex and requires an interprofessional approach. Irrespective of underlying mechanisms, instrumented gait analysis (IGA) can provide quantification of gait to support clinical decision-making for CYPwCP when planning treatment interventions. AIM: This scoping review aimed to determine the impact of instrumented gait analysis (IGA) on treatment decision-making for CYPwCP, paying particular attention to interprofessional decision-making. METHOD: PubMed, EMBASE, Web of Science and Scopus databases were searched from inception to October 2019 for studies including CYPwCP age<25 years. The PRISMA ScR protocol was followed, and Quality was assessed with the Downs and Black (D&B) scale. Influences on decision-making were coded according to the International Classification of Functioning, Disability and Health for Children and Youth framework (ICF-CY). RESULTS: Seventeen studies (1144 patients, 2.8-23 years) of varying quality (mean D&B = 17.2, range = 11-26) were included. Studies considered IGA influence at three decision-making stages 'Clinical Planning', 'Treatment Performed' and 'Follow up'. Child and Family, and Clinician and Service-centred factors had a high impact on engagement with IGA recommendations. INTERPRETATION: IGA guided recommendations can differ from initial clinical plans, and often lead to modification of the treatment ultimately performed. The effect on individual patients' outcomes when treatment recommendations based on instrumented gait analysis are followed is not yet clear and warrants further research. The differences in clinicians' engagement with IGA recommendations occur due to an array of Child and Family, and Clinician and Service-centred factors. Overall, IGA leads to less surgical recommendations, and has the potential to influence conservative gait-related management in CYPwCP.

Transient episodes of hemiparesis in Sturge Weber Syndrome - Causes, incidence and recovery.

INTRODUCTION: Sturge Weber Syndrome (SWS) arises from a sporadic condition secondary to a post zygotic mutation in the GNAQ gene, manifested in the majority of cases by capillary malformation of the skin. Children present with seizures, acquired hemiparesis, transient hemiparesis and intellectual disabilities. This project aimed to establish incidence of transient episodes, their recovery time if full recovery was achieved, and events associated with the transient episode. METHODS: This was a retrospective cohort study, approved for clinical audit (Institution number 2182). Children with a diagnosis of SWS seen in a tertiary multidisciplinary clinic from September 2013 to September 2016 were included in the analysis. Data was collated from clinical notes. SPSS 21 was used for analysis. RESULTS: A total of 102 patients had a diagnosed of SWS, the mean age was 10.86 years (range 2-22years). 47/102 participants with SWS had permanent hemiparesis. 32/102 presented with transient episodes. All children with transient hemiparesis had epilepsy. Median recovery time to previous function, following a transient episode was 24 h (range 1 minute-4392 h). All participants fully recovered from the transient episode within a 6 months' time frame. The factors associated with transient episodes were seizures, or a blow to the head. CONCLUSIONS: To our knowledge this is the largest cohort of children with SWS analysed to describe occurrence, association and recovery time of transient hemiparesis. The findings informed service development including change in method to record details of transient episodes. Further information provided to other health professionals will be reviewed.