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This observational study aims to describe the level of perceived disability in Cerebral Palsy (CP). We described the perception of adults by using the interviewer-administered version of the WHO disability assessment schedule (WHODAS 2.0). In case of intellectual disability (ID), the proxy-administered version was used, and a caregiver was asked to report the difficulties experienced by the patient; 199 patients were enrolled. The level of perceived disability was higher when referred to patients with ID (proxy report) than when referred to patients without ID (p < .001). For all patients, the level of perceived disability varied depending on the severity and the localization of motor impairment (both p < .001). No differences were observed based on the type of motor impairment. The perceived disability was correlated with age only for patients with no ID (p < .05). The WHODAS 2.0 may be a useful tool to explore the perception of disability in CP.

Sin financiación 3.538 JCR (2021) Q2, 104/212 Clinical Neurology 0.980 SJR (2021) Q1, 42/320 Pediatrics, Perinatology and Child Health No data IDR 2021 UEM

Background: It is increasingly acknowledged that the outcomes of medical treatments are influenced by the context of the clinical encounter through the mechanisms of the placebo effect. The phenomenon of placebo analgesia might be exploited to maximize the efficacy of neurorehabilitation treatments. Since its intensity varies across neurological disorders, the Italian Consensus Conference on Pain in Neurorehabilitation (ICCP) summarized the studies on this field to provide guidance on its use. Methods: A review of the existing reviews and meta-analyses was performed to assess the magnitude of the placebo effect in disorders that may undergo neurorehabilitation treatment. The search was performed on Pubmed using placebo, pain, and the names of neurological disorders as keywords. Methodological quality was assessed using a pre-existing checklist. Data about the magnitude of the placebo effect were extracted from the included reviews and were commented in a narrative form. Results: 11 articles were included in this review. Placebo treatments showed weak effects in central neuropathic pain (pain reduction from 0.44 to 0.66 on a 0-10 scale) and moderate effects in postherpetic neuralgia (1.16), in diabetic peripheral neuropathy (1.45), and in pain associated to HIV (1.82). Moderate effects were also found on pain due to fibromyalgia and migraine; only weak short-term effects were found in complex regional pain syndrome. Confounding variables might have influenced these results. Clinical implications: These estimates should be interpreted with caution, but underscore that the placebo effect can be exploited in neurorehabilitation programs. It is not necessary to conceal its use from the patient. Knowledge of placebo mechanisms can be used to shape the doctor-patient relationship, to reduce the use of analgesic drugs and to train the patient to become an active agent of the therapy. Background: It is increasingly acknowledged that the outcomes of medical treatments are influenced by the context of the clinical encounter through the mechanisms of the placebo effect. The phenomenon of placebo analgesia might be exploited to maximize the efficacy of neurorehabilitation treatments. Since its intensity varies across neurological disorders, the Italian Consensus Conference on Pain in Neurorehabilitation (ICCP) summarized the studies on this field to provide guidance on its use. Methods: A review of the existing reviews and meta-analyses was performed to assess the magnitude of the placebo effect in disorders that may undergo neurorehabilitation treatment. The search was performed on Pubmed using placebo, pain, and the names of neurological disorders as keywords. Methodological quality was assessed using a pre-existing checklist. Data about the magnitude of the placebo effect were extracted from the included reviews and were commented in a narrative form. Results: 11 articles were included in this review. Placebo treatments showed weak effects in central neuropathic pain (pain reduction from 0.44 to 0.66 on a 0-10 scale) and moderate effects in postherpetic neuralgia (1.16), in diabetic peripheral neuropathy (1.45), and in pain associated to HIV (1.82). Moderate effects were also found on pain due to fibromyalgia and migraine; only weak short-term effects were found in complex regional pain syndrome. Confounding variables might have influenced these results. Clinical implications: These estimates should be interpreted with caution, but underscore that the placebo effect can be exploited in neurorehabilitation programs. It is not necessary to conceal its use from the patient. Knowledge of placebo mechanisms can be used to shape the doctor-patient relationship, to reduce the use of analgesic drugs and to train the patient to become an active agent of the therapy.

EUROMAC is a European registry of McArdle Disease patients and other very rare muscle glycogenosis (glycogenosis types 0, IV, VII, IX, X, XIII; phosphoglycerate kinase 1 deficiency and muscle lactate dehydrogenase deficiency) presenting with exercise intolerance as the key symptom. EUROMAC aims to promote awareness and understanding of McArdle disease and related conditions to harmonize standards of diagnosis and care and to promote research. EUROMAC was created and developed by a network of 15 partners from 7 EU countries, Turkey and US. Initially funded by the European Commission's Directorate General for Health and Consumers, the registry is currently supported by a grant received from the Fondo de Investigaciones Sanitarias (PI116/01492). Following informed consent from the participant, data (demographics, main clinical symptoms, comorbidities, age at diagnosis and genetic diagnosis) were uploaded onto a safe, encrypted web-based registry (https://www.registryeuromac.eu/en/). In parallel, education, training and dissemination activities were performed. EUROMAC is the largest international registry for patients with McArdle disease. As of March 2018, 313 patients from 10 different countries were recruited. The first Polish patient diagnosed with McArdle disease followed a EUROMAC teaching course, held in Warsaw. The implementation of the EUROMAC project and the setting-up of an international registry have significantly contributed to the effective dissemination of rare muscle GSDs, raising the awareness of these conditions. Additionally, it provided a unique insight into the co-comorbidities affecting people with McArdle disease that should lead to strategies to reduce and manage them in the future. Sin financiación 3.115 JCR (2019) Q3, 76/204 Clinical Neurology 1.177 SJR (2019) Q1, 85/378 Neurology (clinical) No data IDR 2019 UEM

Pain is a common and disabling symptom in patients with stroke, multiple sclerosis (MS), cerebral palsy (CP), spinal cord injury (SCI) and other conditions associated with spasticity, but data on its prevalence, and natural history, as well as guidelines on its assessment and treatment in the field of neurorehabilitation, are largely lacking. The Italian Consensus Conference on Pain in Neurorehabilitation (ICCPN) searched and evaluated current evidence on the frequency, evolution, predictors, assessment, and pharmacological and non-pharmacological treatment of pain in patients with stroke, MS, CP, SCI and other conditions associated with spasticity. Patients with stroke, MS, CP, and SCI may suffer from pain related to spasticity, as well as nociceptive and neuropathic pain (NP), whose prevalence, natural history, impact on functional outcome, and predictors are only partially known. Diagnosis and assessment of the different types of pain in these patients is important, because their treatment may differ. Botulinum neurotoxin is the first choice treatment for spasticity, while some antidepressant and antiepileptic drugs may be effective on NP, but pharmacological treatment varies according to the underlying disease. In most cases, a single therapy is not sufficient to treat pain, and a multidisciplinary approach, which include pharmacological and non-pharmacological treatments is needed. Further studies, and in particular randomized controlled trials, are needed on these topics.

Objective : The use of brain-computer interface in neurofeedback therapy for attention deficit hyperactivity disorder (ADHD) is a relatively new approach. We conducted a randomized controlled trial (RCT) to determine whether an 8-week brain computer interface (BCI)-based attention training program improved inattentive symptoms in children with ADHD compared to a waitlist-control group, and the effects of a subsequent 12-week lower-intensity training. Study design : We randomized 172 children aged 6–12 attending an outpatient child psychiatry clinic diagnosed with inattentive or combined subtypes of ADHD and not receiving concurrent pharmacotherapy or behavioral intervention to either the intervention or waitlist-control group. Intervention involved 3 sessions of BCI-based training for 8 weeks, followed by 3 training sessions per month over the subsequent 12 weeks. The waitlist-control group received similar 20-week intervention after a wait-time of 8 weeks. Results : The participants’ mean age was 8.6 years (SD = 1.51), with 147 males (85.5%) and 25 females (14.5%). Modified intention to treat analyzes conducted on 163 participants with at least one follow-up rating showed that at 8 weeks, clinician-rated inattentive symptoms on the ADHD-Rating Scale (ADHD-RS) was reduced by 3.5 (SD 3.97) in the intervention group compared to 1.9 (SD 4.42) in the waitlist-control group (between-group difference of 1.6; 95% CI 0.3 to 2.9 p = 0.0177). At the end of the full 20-week treatment, the mean reduction (pre-post BCI) of the pooled group was 3.2 (95% CI 2.4 to 4.1). Conclusion : The results suggest that the BCI-based attention training program can improve ADHD symptoms after a minimum of 24 sessions and maintenance training may sustain this improvement. This intervention may be an option for treating milder cases or as an adjunctive treatment. NMRC (Natl Medical Research Council, S’pore) Published version

We here report on the existence of Leber’s hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense mitochondrial DNA (mtDNA) variants, affecting the MT-ND4, MT-ND4L and MT-ND6 subunit genes of Complex I. The pathogenic potential of these mtDNA haplotypes is supported by multiple evidences: first, the LHON phenotype is strictly inherited along the maternal line in one very large family; second, the combinations of mtDNA variants are unique to the two maternal lineages that are characterized by recurrence of LHON; third, the Complex I-dependent respiratory and oxidative phosphorylation defect is co-transferred from the proband’s fibroblasts into the cybrid cell model. Finally, all but one of these missense mtDNA variants cluster along the same predicted fourth E-channel deputed to proton translocation within the transmembrane domain of Complex I, involving the ND1, ND4L and ND6 subunits. Hence, the definition of the pathogenic role of a specific mtDNA mutation becomes blurrier than ever and only an accurate evaluation of mitogenome sequence variation data from the general population, combined with functional analyses using the cybrid cell model, may lead to final validation. Our study conclusively shows that even in the absence of a clearly established LHON primary mutation, unprecedented combinations of missense mtDNA variants, individually known as polymorphisms, may lead to reduced OXPHOS efficiency sufficient to trigger LHON. In this context, we introduce a new diagnostic perspective that implies the complete sequence analysis of mitogenomes in LHON as mandatory gold standard diagnostic approach., Author summary Leber’s hereditary optic neuropathy (LHON) is a common cause of maternally inherited vision loss. In the large majority of cases LHON is due to mitochondrial DNA (mtDNA) point mutations, clearly distinct from common polymorphisms normally found in the general population, affecting the mitochondrial function, thus defined as pathogenic. For the first time, we here demonstrate, on the genetic and functional ground, that unusual combinations of otherwise polymorphic and non-pathogenic mtDNA variants are sufficient for causing low-penetrance maternally inherited optic neuropathy in pedigrees fitting the LHON clinical diagnosis. Our findings bridge the blurry border between “pathogenic” and “neutral” mutations in an overall continuum that truly depends on the specific and sometime unique combination of variants characterizing each mitogenome. As a result, we conclude that, for an accurate diagnosis of LHON and possibly of other mitochondrial diseases, the only approach that can disclose all possible causative sources is complete mitogenome sequencing.