Background: Premature birth is associated with feeding difficulties due to inadequate coordination of sucking, swallowing, and breathing. Nonnutritive sucking (NNS) and oral stimulation interventions may be effective for oral feeding promotion, but the mechanisms of the intervention effects need further clarifications. Purpose: We reviewed preterm infant intervention studies with quantitative outcomes of sucking performance to summarize the evidence of the effect of interventions on specific components of sucking. Methods: PubMed, CINAHL, MEDLINE, EMBASE, and PSYCOLIST databases were searched for English language publications through August 2017. Studies were selected if they involved preterm infants, tested experimental interventions to improve sucking or oral feeding skills, and included outcome as an objective measure of sucking performance. Specific Medical Subject Headings (MeSH) terms were utilized. Results: Nineteen studies were included in this review: 15 randomized, 1 quasi-randomized, and 3 crossover randomized controlled trials. Intervention types were grouped into 6 categories (i) NNS, (ii) NNS with auditory reinforcement, (iii) sensorimotor stimulation, (iv) oral support, (v) combined training, and (vi) nutritive sucking. Efficiency parameters were positively influenced by most types of interventions, though appear to be less affected by trainings based on NNS alone. Implications for Practice: These findings may be useful in the clinical care of infants requiring support to achieve efficient sucking skills through NNS and oral stimulation interventions. Implications for Research: Further studies including quantitative measures of sucking performance outcome measures are needed in order to best understand the needs and provide more tailored interventions to preterm infants.

We developed a device for an objective measurement of non-nutritive sucking (NNS). NNS is newborns' spontaneous action that is a predictor of their neural system development and can be adopted as an intervention to train oral feeding skills in preterms. Two miniaturized digital pressure sensors were embedded into a commercial pacifier and the two signals were simultaneously acquired using the Inter-Integrated circuit (I²C) interface. This solution traced a complete pressures profile of the sucking pattern in order to better understand the functional aspects of the two NNS phases, the suction and the expression. Experimental tests with nine newborns confirmed that the sensorized pacifier is an adequate tool for measuring NNS burst-pause patterns. The identified parameters related to the suction/expression rhythmicity could be used as indicators of the NNS ability. This device might be used both for exploring the possible diagnostic data contained in NNS pattern and for monitoring the sucking skills of premature infants.

Background: Mutations in the KLHL40 gene are a common cause of severe or even lethal nemaline myopathy. Some cases with mild forms have been described, although the cases are still anecdotal. The aim of this paper was to systematically review the cases described in the literature and to describe a 12-year clinical and imaging follow-up in an Italian patient with KLHL40- related myopathy in order to suggest possible follow-up measurements. Methods: Having searched through three electronic databases (PubMed, Scopus, and EBSCO), 18 articles describing 65 patients with homozygous or compound heterozygous KLHL40 mutations were selected. A patient with a KLHL40 homozygous mutation (c.1582G>A/p.E528K) was added and clinical and genetic data were collected. Results: The most common mutation identified in our systematic review was the (c.1516A>C) followed by the (c.1582G>A). In our review, 60% percent of the patients died within the first 4 years of life. Clinical features were similar across the sample. Unfortunately, however, there is no record of the natural history data in the surviving patients. The 12-year follow-up of our patient revealed a slow improvement in her clinical course, identifying muscle MRI as the only possible marker of disease progression. Conclusions: Due to its clinical and genotype homogeneity, KLHL40-related myopathy may be a condition that would greatly benefit from the development of new gene therapies; muscle MRI could be a good biomarker to monitor disease progression.

Background: In 2020, a multiprofessional panel was set up in collaboration with the Italian FightTheStroke Foundation family association to produce evidence-based recommendations for the management and neuromotor rehabilitation of persons with cerebral palsy aged 2–18 years to implement in clinical practice in Italy. Methods: The recommendations of these care pathways were developed according to the American Academy for Cerebral Palsy and Developmental Medicine guidelines for Care Pathways Development and the Grading of Recommendations Assessment Development and Evaluation working group for adoption, adaptation, or de novo development of recommendations from high-quality guidelines (GRADE-ADOLOPMENT). Results: Four strong positive recommendations were developed regarding comprehensive management, and twenty-four addressed neuromotor treatment. Conclusions: A holistic, individualized approach was affirmed in terms of both multidimensional patient profile and interdisciplinary management in a network with the school where children and adolescents are integrated. It was defined that all motor rehabilitation approaches must be individually tailored considering age and developmentally appropriate activities as interventions and goals, in light of the reference curves addressing prognosis for Gross Motor Function and Manual Ability Classification Systems. Intervention must be structured with adaptations of the task and/or of the context (objects and environment) based on the analysis of the child’s skills to support motivation and avoid frustration.

Various degrees of neural reorganization may occur in affected and unaffected hemispheres in the early phase after stroke and several months later. Recent literature suggests to apply a stratification based on lesion location and to consider patients with cortico-subcortical and subcortical strokes separately: different lesion location may also influence therapeutic response. In this study we used a longitudinal approach to perform TMS assessment (Motor Evoked Potentials, MEP, and Silent Period, SP) and clinical evaluations (Barthel Index, Fugl-Meyer Assessment for upper limb motor function and Wolf Motor Function Test) in 10 cortical-subcortical and 10 subcortical ischemic stroke patients. Evaluations were performed in a window between 10 and 45 days (t0) and at 3 months after the acute event (t1). Our main finding is that 3 months after the acute event patients affected by subcortical stroke presented a reduction in contralateral SP duration in the unaffected hemisphere; this trend is related to clinical improvement of upper limb motor function. In conclusion, SP proved to be a valid parameter to characterize cortical reorganization patterns in stroke survivors and provided useful information about motor recovery within three months in subcortical patients.