Child neurology

Ataxia-telangiectasia (AT) is a rare, devastating neurodegenerative disease presenting with early-onset ataxia, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and proneness to cancer. In a previous phase 2 study, we showed that 6 monthly infusions of autologous erythrocytes loaded with dexamethasone (EryDex; EryDel, Urbino, Italy) were effective in improving neurologic impairment in young patients with AT. The present article reports the results of the extension of this study for an additional 24-month period. After the end of the first trial, 4 patients continued to be treated with monthly EryDex infusions for an additional 24 months, and their clinical outcome was compared with that of 7 age-matched patients who stopped the treatment after the first 6 infusions. The protocol included serial assessment of ataxia (by International Cooperative Ataxia Rating Scale) and adaptive behavior (by Vineland Adaptive Behavior Scales) and clinical and laboratory tests reveal...

Introduction: Ataxia telangiectasia (AT) is a neurodegenerative disorder with cerebellar and extrapyramidal features. Interventional and epidemiological studies in AT should rely on specific scales which encompass the specific neurological features, as well the early progressive course and the subsequent plateau. The aim of this study was to build a scale of the CGI type (Clinical Global Impression) which is disease specific, as well as to check the feasibility of the ICARS scale for ataxia in this population. Methods: We recruited 63 patients with ataxia, aged 10.76 ± 3.2 years, followed at 6 international AT centers, 49 of them (77.8%) with classical AT. All patients were evaluated for ataxia with ICARS scale. In patients with AT, two CGI scales were scored, unstructured as structured for which separate anchors were provided. Results: Mean ICARS score was 44.7 ± 20.52, and it's severity positively correlated with age (Spearman correlation, r ¼ 0.46, p < 0.01). Mean CGI score was 2 (moderately involved). There was a high correlation between the structured and unstructured CGIs (Spearman correlation, r ¼ 0.87, p < 0.01). Both CGI scales showed positive correlation between severity and increasing age (Spearman correlation r ¼ 0.59, p < 0.01 for structured CGI and r ¼ 0.61, p < 0.01 for unstructured). Discussion: We succeeded to build two CGI scales: structured and unstructured, which are disease specific for AT. The unstructured scale showed better connection to disease course; Abbreviations: AT, ataxia telangiectasia; ICARS, international cooperative ataxia rating scale; SARA, scale for the assessment and rating of ataxia; BARS, brief ataxia rating scale; CGI, clinical global impression.

Objective: Action Observation Treatment is a novel rehabilitation approach exploiting a neurophysiological mechanism that allows one to recruit the neural structures sub-serving action execution during the mere observation of those same actions. Action Observation Treatment is effective in the rehabilitation of several neurological diseases. In this pilot study, we used Action Observation Treatment in a telerehabilitation setting in children with Cerebral Palsy. Materials and methods: Ten children with Cerebral Palsy, aged 5-12 years, entered the study. They followed the Action Observation Treatment rehabilitation program at home with remote supervision by a child neurologist located at the hospital. Outcome measures were the scores at the Melbourne Assessment of Unilateral Upper Limb Function Scale and the Assisting Hand Assessment. Results: Scores obtained after treatment and at a two months' follow-up significantly differed from baseline and overlapped those obtained in randomized controlled studies carried out in a conventional setting. Conclusions: Action Observation Treatment is therefore a promising approach that can be used on a large scale in a telerehabilitation setting. ä IMPLICATIONS FOR REHABILITATION Tele-rehabilitation has the potential to enhance early intervention service provision for children with Cerebral Palsy. Action Observation Treatment has the potential to become a routine approach in a telerehabilitation setting.

There remains great interest in understanding the relationship between visual impairment (VI) and autism spectrum disorder (ASD) due to the extraordinarily high prevalence of ASD in blind and visually impaired children. The broad variability across individuals and assessment methodologies have made it difficult to understand whether autistic-like symptoms shown by some children with VI might reflect the influence of the visual deficit, or represent a primary neurodevelopmental condition that occurs independently of the VI itself. In the absence of a valid methodology adapted for the visually impaired population, diagnosis of ASD in children with VI is often based on non-objective clinical impression, with inconclusive prevalence data. In this review, we discuss the current state of knowledge and suggest directions for future research.