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BACKGROUND: Effective drugs for type 1A Charcot-Marie-Tooth (CMT1A) disease are not available. Various forms of moderate exercise are beneficial, but few data are available on the effectiveness of exercise in CMT1A children. AIM: To investigate the feasibility and effectiveness of exercises to improve ankle strength and limb function in a child with CMT1A. SETTING: Outpatient clinic. POPULATION: Nine-year-old boy with CMT1A. METHODS: The rehabilitation program consisted of ankle exercises and Kinect videogame-directed physical activities (using an Xbox 360 console/movement sensor) that aimed to improve balance and limb strength. The program was given 3 times a week for 5 weeks. The child was assessed at baseline, after 5 weeks, and 3 and 6 months after. RESULTS: By the end of follow-up, child balance and endurance had improved, but ankle strength did not. CONCLUSIONS: The encouraging results for balance and endurance justify further studies on videogame-directed activities in CMT1A children/adolescents.

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AIM: The purpose of the present study was to correlate early hand function assessment during the first years of life with neuroimaging findings and the different patterns of cortico-motor reorganization in children with unilateral cerebral palsy (UCP). METHODS: We conducted a long prospective observational study, in which 17 children with UCP (8 left-sided hemiplegia; Manual Ability Classification System level 1-3) were first assessed at a mean age of 24 months (range 18-28), and followed up by means of the Besta Scale, a new standardized protocol assessing both unimanual and bimanual hand function. They also underwent Melbourne Assessment of Unilateral Upper Limb Function (MUUL) and single-pulse Transcranial Magnetic Stimulation (TMS) at a mean age of 10 years 5 months (range 9 y 1 m-12 y 8 m). Brain MRIs of all the 17 children were independently assessed and scored by two blinded observers, according to a defined protocol. Possible correlations between hand function at first assessment, neuroimaging and TMS data were analyzed. RESULTS: Early hand function impairment significantly correlated with the extension of brain damage (ρ = -0.531, p = 0.028), number of involved areas (ρ = -0.608, p = 0.010), presence of radiological signs of cortico-spinal degeneration (ρ = -0.628, p = 0.007), and basal ganglia involvement (ρ = -0.485, p = 0.049). Additionally, higher hand function scores (i.e. better hand function) at first assessment significantly correlated with contralateral cortico-spinal projections, while lower scores significantly correlated with either mixed or ipsilateral cortico-spinal projections to the affected hand (χ(2)(2) = 11.418, p = 0.003; post-hoc tests: contralateral TMS group versus ipsilateral: Z = -2.943, p = 0.002 and contralateral TMS group versus mixed: Z = -2.775, p = 0.006). CONCLUSIONS: To our knowledge, this is the first study correlating hand function assessment in the first years of life, and its evolution over time, with neuroimaging and cortico-spinal projection patterns in children with UCP. These findings could contribute to an improved prediction of prognosis and a better delineation of therapeutic interventions in young children with UCP.

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The aim of this study was to establish the suitability of the North Star Ambulatory Assessment for use in young boys with Duchenne muscular dystrophy. We studied 147 typically developing and 144 boys affected by Duchenne muscular dystrophy between the ages of 3 and 5 years. More than 85% of the typically developing boys by the age of 4 years had full scores on all the items with total scores ≥33/34. Before the age of 4 years more than 15% of the typically developing boys did not achieve full scores on all the items. Some items, such as standing on one leg, showed significant improvement with age. In contrast, other activities were rarely achieved even in the older boys. Even if there was a progressive increase in scores with age, both total and individual item scores in Duchenne were still far from those obtained in the typically developing children of the same age. Our findings suggest that the North Star Ambulatory Assessment can be reliably used at least from the age of 4 years. Longitudinal natural history data studies are needed to assess possible changes over time and the possible effect of early steroids.

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The Performance of Upper Limb (PUL) test was specifically developed for the assessment of upper limbs in Duchenne muscular dystrophy (DMD). The first published data have shown that early signs of involvement can also be found in ambulant DMD boys. The aim of this longitudinal Italian multicentric study was to evaluate the correlation between the 6 Minute Walk Test (6MWT) and the PUL in ambulant DMD boys. Both 6MWT and PUL were administered to 164 ambulant DMD boys of age between 5.0 and 16.17 years (mean 8.82). The 6 minute walk distance (6MWD) ranged between 118 and 557 (mean: 376.38, SD: 90.59). The PUL total scores ranged between 52 and 74 (mean: 70.74, SD: 4.66). The correlation between the two measures was 0.499. The scores on the PUL largely reflect the overall impairment observed on the 6MWT but the correlation was not linear. The use of the PUL appeared to be less relevant in the very strong patients with 6MWD above 400 meters, who, with few exceptions had near full scores. In patients with lower 6MWD the severity of upper limb involvement was more variable and could not always be predicted by the 6MWD value or by the use of steroids. Our results confirm that upper limb involvement can already be found in DMD boys even in the ambulant phase.