Chiari Malformation Type 1 and Syringomyelia: Why Do Patients Claim for International Guidelines? Commentary on the 2021 Chiari and Syringomyelia Consensus Document.

The diagnosis of Chiari malformation type 1 (CM1) and Syringomyelia (Syr) has become increasingly common during the past few years. Contemporarily, the body of literature on these topics is growing, although randomized controlled studies on significant case series to drive guidelines are missing in the pediatric and adult populations. As a result of the different opinions about surgical indications and techniques raised by CM1-Syr, an increasing number of well-informed but disoriented patients is emerging. To bridge this gap, an International Consensus Conference on CM1-Syr held in Milan in November 2019 aimed to find a consensus among international experts, to suggest some recommendations that, in the near future, could lead to guidelines. Here, we comment on the most relevant recommendations about the definition, diagnosis, surgical management, failures and re-intervention, and outcome. We also focus on some "wrong" indications or techniques that, although widely disapproved by the experts, and negatively experienced by many patients, are still largely in use.

Syringomyelia Associated with Chiari 1 Malformation in Adults: Positive Outcome Predictors after Posterior Fossa Decompression with Duraplasty.

BACKGROUND: Syringomyelia (Syr) in patients with Chiari 1 malformation (CM1) may be attributable to abnormal dynamics of cerebrospinal fluid (CSF) in the upper cervical segment; fourth ventricle enlargement has been reported in association with a worse clinical and radiological presentation, independently of the posterior fossa volume. In this study, we analyzed presurgery hydrodynamic markers to evaluate if their changes could be associated with clinical and radiological improvement after posterior fossa decompression and duraplasty (PFDD). As a primary endpoint, we aimed to correlate improvement in the fourth ventricle area with positive clinical outcomes. METHODS: In total, in this study, we enrolled 36 consecutive adults with Syr and CM1 who were followed by a multidisciplinary team. All the patients were prospectively evaluated with clinical scales and neuroimaging, including CSF flow, the fourth ventricle area, and the Vaquero Index by using a phase-contrast MRI before (T0) and after surgical treatment (T1-Tlast, with a range of 12-108 months). The CSF flow at the craniocervical junction (CCJ), the fourth ventricle area, and the Vaquero Index changes were statistically analyzed and compared to the clinical and quality of life improvement after surgery. The good outcome prediction ability of presurgical radiological variables was tested. RESULTS: Surgery was associated with positive clinical and radiological outcomes in more than 90% of cases. The fourth ventricle area significantly reduced after surgery (T0-Tlast, p = 0.0093), but no significant associations with clinical improvement were found. The presurgical presence of CSF flow at the CCJ was able to predict a good outcome (AUC = 0.68, 95% CI 0.50-0.87 and LH+ = 2.1, IC 95% 1.16-3.07) and was also significantly associated with post-surgical pain relief (rho = 0.61 and p = 0.0144). CONCLUSIONS: Presurgery CSF flow at the CCJ is proposed as a radiological marker with the ability to predict a positive outcome after PFDD in adults with syringomyelia and CM1. Measurements of the fourth ventricle area could be useful additional information for evaluating surgical long-term follow-up; further experience on larger cohorts is required to better define the prognostic yield of this radiological parameter.

Neurophysiological Correlates in Patients with Syringomyelia and Chiari Malformation: The Cortico-Diaphragmatic Involvement.

Purpose. Brainstem syndromes have frequently been reported in Chiari syndrome and in syringobulbia; previous studies have shown that determining the central motor conduction time (CMCT) along the circuit of the phrenic nerve makes the assessment of the voluntary control of the respiratory pathway possible. In our study, we evaluated the transcranial magnetic stimulation (TMS) of the phrenic nerve in patients affected by Chiari syndrome and/or syringomyelia (Syr) with the aim of identifying subclinical neurophysiological alterations. Methods. One hundred patients (75 females; average age: 51 ± 13.08 SD; range: 18-76) affected by Chiari syndrome and/or Syr without dyspnea were selected. The magnetic stimulation of the second motor neuron correlating with the phrenic nerve was performed using cervical magnetic stimulation (C5-MEP); the cortical MEP after magnetic stimulation (Cz-MEP) was recorded by magnetic stimulation of the motor cortex (areas corresponding to the diaphragm). The CMCT was calculated. The differences between the patients and controls were calculated (Student's t test). Results. In 13% of the patients, the Cz-MEP were absent bilaterally, and the CMCT was not evaluable. In all these cases, bulbar/cervical Syr was present at MRI; in 10 of them, this was associated with CM1. A bilateral response was obtained in all the other patients (87%), and the CMCTs were normal. All the patients with alterations/absence of Cz-MEP presented bulbar/cervical Syr at MRI. The C5-MEP latency was prolonged or absent in 48%; of these, 84% presented bulbar/cervical Syr associated with CM1 at MRI. The C5-MEP latency values were significantly higher in the group of patients. Conclusions. Neurophysiological alterations of the diaphragmatic pathway were recorded in a group of Chiari syndrome and, particularly, in bulbar/cervical Syr. Future studies with larger cohorts of patients are needed to further assess the specific role of the TMS of the phrenic nerve in CM/Syr patients.

Diagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document.

BACKGROUND: Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study is to achieve a consensus on the diagnosis and treatment of CM1 in children. METHODS: A multidisciplinary panel formulated 57 provisional statements based on a review of the literature. Thirty-four international experts (IE) participated in a Delphi study by independently rating each statement on a 4-point Likert scale ("strongly disagree," "disagree," "agree," "strongly agree"). Statements that were endorsed ("agree" or "strongly agree") by < 75% of raters were re-formulated, or new statements were added, and another Delphi round followed (up to a maximum of three). RESULTS: Thirty-five IE were contacted and 34 agreed to participate. A consensus was reached on 30/57 statements (52.6%) after round 1. Three statements were added, and one removed. After round 2, agreement was reached on 56/59 statements (94.9%). Finally, after round 3, which took place during the 2019 Chiari Consensus Conference (Milan, Italy), agreement was reached on 58/59 statements (98.3%) about four main sections (Definition and Classification, Planning, Surgery, Isolated Syringomyelia). Only one statement did not gain a consensus, which is the "definition of radiological failure 24 month post-surgery." CONCLUSIONS: The consensus document consists of 58 statements (24 on diagnosis, 34 on treatment), serving clinicians and researchers following children with CM1. There is a clear need for establishing an international network and registry and to promote collaborative studies to increase the evidence base and optimize the long-term care of this patient population.

Migraine in Chiari 1 Malformation: a cross-sectional, single centre study.

In Chiari 1 Malformation (CM1) the most frequent symptom is exertional headache, but other headache types have been reported, such as migraine. This cross-sectional study is aimed to examine the prevalence of migraine in a group of CM1 headache patients and to compare clinical-demographic characteristics between migraine and non-migraine patients. 427 adults were enrolled at the multidisciplinary Chiari Center in Torino. 230 headache patients were classified, based on radiological criteria. Frequencies (absolute/percentage values) were calculated in the whole sample for: migraine presence (with and without aura), gender, age, radiologic phenotypes and headache clinical characteristics. The association between CM1 diagnosis and headache characteristics (independent variables) and migraine diagnosis (dependent variable) was estimated by logistic regression models. Seventy-eight patients (67 females) out of 230 presenting headache had a migraine (34%), 44/78 (56%) with aura; in 58/78 (74%) migraine was comorbid with secondary headache attributable to CM1. Migraine prevalence in patients with isolated CM1 (52/120, 43.3%) was higher (p = 0.0016) than in all the other patients (26/110, 23.6%). Although migraine was prevalent in females (86%; 6:1 female:male ratio), age classes and gender were not risk factors for migraine at multivariate analysis, while migraine was associated with isolated CM1 phenotype (OR = 2.6). This study shows a high prevalence of migraine in CM1 patients and a significant association between migraine and isolated CM1. In patients with radiological evidence of CM1, particularly in the absence of neurological signs, a careful headache clinical characterization, according to the International Headache Society criteria, may be advised.

Diagnosis and treatment of Chiari malformation and syringomyelia in adults: international consensus document.

BACKGROUND: Syringomyelia and Chiari malformation are classified as rare diseases on Orphanet, but international guidelines on diagnostic criteria and case definition are missing. AIM OF THE STUDY: to reach a consensus among international experts on controversial issues in diagnosis and treatment of Chiari 1 malformation and syringomyelia in adults. METHODS: A multidisciplinary panel of the Chiari and Syringomyelia Consortium (4 neurosurgeons, 2 neurologists, 1 neuroradiologist, 1 pediatric neurologist) appointed an international Jury of experts to elaborate a consensus document. After an evidence-based review and further discussions, 63 draft statements grouped in 4 domains (definition and classification/planning/surgery/isolated syringomyelia) were formulated. A Jury of 32 experts in the field of diagnosis and treatment of Chiari and syringomyelia and patient representatives were invited to take part in a three-round Delphi process. The Jury received a structured questionnaire containing the 63 statements, each to be voted on a 4-point Likert-type scale and commented. Statements with agreement <75% were revised and entered round 2. Round 3 was face-to-face, during the Chiari Consensus Conference (Milan, November 2019). RESULTS: Thirty-one out of 32 Jury members (6 neurologists, 4 neuroradiologists, 19 neurosurgeons, and 2 patient association representatives) participated in the consensus. After round 2, a consensus was reached on 57/63 statements (90.5%). The six difficult statements were revised and voted in round 3, and the whole set of statements was further discussed and approved. CONCLUSIONS: The consensus document consists of 63 statements which benefited from expert discussion and fine-tuning, serving clinicians and researchers following adults with Chiari and syringomyelia.

The management of Chiari malformation type 1 and syringomyelia in children: a review of the literature.

In anticipation of the "Chiari and Syringomyelia Consensus Conference" held in Milan in 2019, we performed a systematic literature review on the management of Chiari malformation type 1 (CM1) and syringomyelia (Syr) in children.We aimed to summarize the available evidence and identify areas where consensus has not been reached and further research is needed.In accordance with PRISMA guidelines, we formulated seven questions in Patients-Interventions-Comparators-Outcomes (PICO) format. Six PICOs concerned CM1 children with/without additional structural anomalies (Syr, craniosynostosis, hydrocephalus, tethered cord, and cranio-vertebral junction anomalies), and one PICO Syr without CM1. We searched Medline, Embase, Cochrane, and NICE databases from January 1, 1999, to May 29, 2019. Cohort studies, controlled and randomized clinical trials (CCTs, RCTs), and systematic reviews were included, all pertinent only to patients ≤ 18 years of age.For CM1, 3787 records were found, 460 full texts were assessed and 49 studies (46 cohort studies, one RCT, and two systematic reviews) were finally included. For Syr, 376 records were found, 59 full texts were assessed, and five studies (one RCT and four cohort studies) were included. Data on each PICO were synthetized narratively due to heterogeneity in the inclusion criteria, outcome measures, and length of follow-up of the included studies.Despite decades of experience on CM1 and Syr management in children, the available evidence remains limited. Specifically, there is an urgent need for collaborative initiatives focusing on the adoption of shared inclusion criteria and outcome measures, as well as rigorous prospective designs, particularly RCTs.

Comorbidities, anthropometric, demographic, and lifestyle risk factors for ulnar neuropathy at the elbow: A case control study.

We performed a prospective multicenter case-control study to explore the association between ulnar neuropathy at elbow (UNE) and body and elbow anthropometric measures, demographic and lifestyle factors, and comorbidities. Cases and controls were consecutively enrolled among subjects admitted to four electromyography labs. UNE diagnosis was made on clinical and neurographic findings. The control group included all other subjects without signs/symptoms of ulnar neuropathy and with normal ulnar nerve neurography. Anthropometric measurements included weight, height, waist, hip circumferences, and external measures of elbow using a caliper. The participants filled in a self-administered questionnaire on personal characteristics, lifestyle factors, and medical history. We estimated odds ratios (ORs) and 95% confidence intervals (CIs) by fitting unconditional logistic regression models adjusted by center and education level. We enrolled 220 cases (males 61.8%; mean age 51.7 years) and 460 controls (47.4% males; mean age 47.8 years). At multivariable analysis, UNE was associated to male gender (OR = 2.4, 95%CI = 1.6-3.7), smoking habits (>25 pack-years (OR = 2.3, 95%CI = 1.3-4.1), body mass index (OR = 1.05, 95%CI 1.01-1.10), polyneuropathies (OR = 4.1, 95%CI 1.5-11.5), and leaning with flexed elbow on a table/desk (OR = 1.5, 95%CI 1.0-2.2). Cubital groove width (CGW) turned out to be negatively associated with UNE (OR = 0.80, 95%CI = 0.74-0.85). Our study suggests that some personal factors especially anthropometric measures of the elbow may play a role in UNE pathogenesis as the measures of wrist in CTS. We demonstrated that for each millimeter of smaller CGW the risk of idiopathic UNE increases of 25%.

Syringomyelia and Chiari Syndrome Registry: advances in epidemiology, clinical phenotypes and natural history based on a North Western Italy cohort.

BACKGROUND: Syringomyelia and Chiari Syndrome are classified as rare diseases, but current known occurrence in Europe is missing. The increased ability to diagnose these pathologies by magnetic resonance imaging and its widespread availability has led to an increase of reported cases, often asymptomatic, with the need to standardize definitions, diagnostic criteria and treatments. AIMS: We present shared Interregional Recommendations developed with the primary aim to estimate Syringomyelia and Chiari Syndrome prevalence and incidence in North Western Italy, with special reference to symptomatic forms. METHODS: An agreement for the standardization of definitions, classifications, diagnostic criteria and surgical Recommendations was reached by the multidisciplinary Interregional Piemonte and Valle d'Aosta Chiari-Syringomyelia Consortium (Delphi method); next, in 2011 a census for Syringomyelia and Chiari Malformation was performed through the Interregional Piemonte and Valle d'Aosta Rare Disease Registry, integrated by a dedicated form in order to estimate prevalence and incidence. RESULTS: 436 patients, 292 females, met shared interregional diagnostic criteria. Syringomyelia prevalence was estimated in 4.84:100 000; Chiari Malformation prevalence was 7.74:100 000; incidence was 0.82:100 000 and 3.08:100 000 respectively. Demographics, neuroradiological parameters and aetiology were reported (in symptomatic and asymptomatic forms). Finally, symptoms and signs, familiar and natural history were analyzed. CONCLUSIONS: First Italian epidemiological data (prevalence, incidence) on Chiari and syringomyelia was collected, according to shared diagnostic Recommendations. Future perspectives include the adoption of these Recommendations at national level to standardize the access to diagnosis and care process and promote multicenter clinical trials.

The external elbow measure as surrogate of the anatomical width of cubital groove and possible risk factor of ulnar neuropathy at the elbow.

Introduction: There are no studies on elbow anthropometry in ulnar neuropathy at the elbow (UNE). We aimed to test the interrater agreement of external elbow measurements with caliper, the matching of external width of cubital groove (WCG) measures with those obtained through conventional radiography (XR) and ultrasonography (US). The final aim was to evaluate the differences of anthropometric elbow and body measures between UNE cases and controls with multicenter prospective study.Materials and methods: After common training of five observers for external elbow and body anthropometric measurements, we assessed the interrater agreement of measures in a single blind measurement session in 16 healthy volunteers. Then we verified if external WCG measures in eight and four of the above 16 subjects matched with those obtained with US and XR. Finally, we enrolled 40 consecutive idiopathic UNE cases in four electromyographic labs matched for sex and age with 40 controls to evaluate the differences of anthropometric measures.Results: There was high interrater agreement of all anthropometric body and elbow measures (Kendal's and interclass correlation coefficients between 0.84 and >0.9). We found high relations between WCG caliper measures and those obtained with US and XR (r > 0.9). WCG was smaller in cases than in controls (13.2 vs.15.7 mm, p < 0.001). There were no differences in body anthropometric measures (BMI and waist-to-hip ratio).Conclusion: The external measurement of WCG is reliable and reproducible and may be risk factor of UNE. Future studies should be performed in lager samples evaluating the relations with lifestyle and occupational factors.

Clinical diagnosis-part I: what is really caused by Chiari I.

PURPOSE: Chiari malformation is a group of congenital malformations involving the brainstem, cerebellum, and upper spinal cord, frequently identified in both young adults and in children. Chiari I malformation (CM1), classically defined as a caudal displacement of the cerebellar tonsils through the foramen magnum into the spinal cord, is the most common clinical type. A syringomyelia can be associated at the time of the diagnosis or appear secondarily and manifest with medullary symptoms. The aim of this paper is to update the knowledge on clinical manifestations specifically related to Chiari I malformation with or without syringomyelia in the pediatric population. METHODS: Current literature with focus on relevant clinical pediatric issues is reviewed and discussed, comparing with those related to adults; we include the results of a 10-year single-center experience on 600 CM1 patients. RESULTS AND CONCLUSIONS: Herniation of the cerebellar tonsils may lead to significant clinical symptoms, including neck and cervical pain, short-lasting occipital "cough" headache, dizziness, and gait impairment; in children younger than 3 years, oropharyngeal symptoms are prevalent (sleep apnea, feeding problems) whereas in those older than 3 years, a higher incidence of cough headache and scoliosis is reported. CM1 clinical features, both in children and in adults, have in common the presence of anatomical deformities of the brainstem and cerebellum. Clinical myelopathy (sensory/autonomic disorders, motor weakness) can result from direct compression of the cervical spinal cord by the herniated cerebellar tonsils or can be due to the presence of a syrinx, reported in association with Chiari I between 35 and 75% of pediatric patients. Similarly, in our series (440 females, 160 males, 98% > 18 years), syringomyelia associated with Chiari I was ranging from 40 to 60% (respectively in asymptomatic and symptomatic groups); headache was reported in 65%. Sensory disturbances (48%), cranial nerve deficits (45%), motor weakness (32%), and autonomic disorders (35%) were the most frequent neurological signs in our cohort. In Chiari I malformation, cervical pain and occipital cough headache are the most characteristic presenting symptoms, both in old children and in adults; however, headache is often multifactorial, and CM1 patients can report a wide variety of non-specific symptoms and signs. Clinical diagnostic CM1 criteria, shared at the national and international level, are recommended with the aim to avoid consequent controversies on diagnosis and on surgical decision making.

Prevalence of Neuropathic Pain in Patients with Traumatic Brachial Plexus Injury: A Multicenter Prospective Hospital-Based Study.

OBJECTIVE: Prevalence and clinical characteristics of neuropathic pain due to traumatic brachial plexus injury. DESIGN: Observational epidemiological study. SETTING: Hospital-based multicenter study. SUBJECTS: One hundred seven prospectively enrolled patients with brachial plexus injury. METHODS: All the patients underwent clinical examination and neurophysiological testing for a definitive diagnosis of the brachial plexus lesion. The DN4 questionnaire was used to identify neuropathic pain, and the Neuropathic Pain Symptom Inventory (NPSI) to evaluate the different symptoms of neuropathic pain. The SF36 questionnaire and the Beck Depression Inventory (BDI) were used to assess quality of life and mood disturbances in patients with neuropathic pain. RESULTS: Of the 107 enrolled patients, 74 had pain (69%); neuropathic pain, as assessed by means of the DN4, was identified in 60 (56%) of these patients. According to the NPSI, the most frequent and severe pain type was the spontaneous burning pain. Clinical and neurophysiological findings showed that pain is unrelated to age but is associated with the severity of peripheral nerve damage. The SF36 questionnaire and BDI showed that neuropathic pain impairs quality of life and causes depression. CONCLUSIONS: Our study provides information on the prevalence, characteristics, and variables associated with neuropathic pain due to traumatic brachial plexus injuries that might provide a basis for improving the clinical management of this condition.

Electrophysiological Predictors of Clinical Outcome in Traumatic Neuropathies: A Multicenter Prospective Study.

Objectives. This prospective, observational, multicentre study aims to identify electrodiagnostic (EDX) markers of clinical recovery in patients with traumatic neuropathy (TN) receiving surgical (S) and nonsurgical (NS) treatments. Methods. Subjects referred to the Italian Traumatic Neuropathy Network between 2010 and 2011 (307 patients, for a total of 444 TN) were evaluated with serial clinical/EDX evaluations at 6, 12, 24, and 36 months of follow-up. Results. Primary surgery was performed in 21 subjects with open lesions and evidence of neurotmesis, while closed lesions were treated with either conservative medical approach (216 patients) or secondary surgery (70 patients), according to the clinical spontaneous recovery at 4-6 months. Clinical improvement correlated with the increase of the compound muscle action potential amplitude (OR 3.76; CI 1.61-8.76), particularly in the S group (OR 7.25; CI 1.2-43.87), and with sensory nerve action potential amplitude in the NS group (OR 4.35; CI 1.14-16.69). No correlations were found with needle electromyography qualitative evaluations, changes in maximal voluntary recruitment, age, and gender. Conclusions. Nerve conduction studies (NCS) represent the more accurate neurophysiological markers of clinical outcome in patients with TN. Significance. Serial NCS assessments predict the functional recovery in TN, increasing the accuracy of peripheral nerves surgical decision-making process.

Short-term efficacy of ultramicronized palmitoylethanolamide in peripheral neuropathic pain.

Introduction. This study evaluates the efficacy of palmitoylethanolamide ultramicronized (PEA-um) as an add-on treatment in patients with diabetic or traumatic neuropathic pain (NP). Methods. 30 patients with chronic NP were assessed with Visual Analogue Scale (VAS), NP Symptom Inventory (NPSI), and Health Questionnaire Five Dimensions (EQ-5D), both at baseline and after 10 and 40 days of treatment with 1200 mg/die of PEA-um. All other therapies were maintained stable during the follow-up period. Results. VAS mean score significantly improved within the first 10 days, ranging from 8.20 ± 1.53 to 6.40 ± 1.83 (P < 0.002), with a further decrease to 5.80 ± 2.04 (P < 0.001) after 40 days of PEA-um administration. Moreover, NPSI total score improved from 5.2 ± 1.5 to 3.8 ± 2.1 (P: 0.025) and EQ-5D ranged from -0.30 ± 0.65 to 0.5 ± 0.34 (P < 0.001) between T0 and T2. Conclusions. This study reports the prospective short-term efficacy data of oral PEA-um in patients with diabetic or traumatic NP. A significant improvement was observed both in VAS and NPSI scores and in quality of life scales after 40 days of treatment, although some limitations should be considered, including the short followup and the open-label study design.

Teleconsulting for minor head injury: the Piedmont experience.

We evaluated the benefits of teleconsulting for patients hospitalised with minor head injuries in centres without neurosurgery. In the Piedmont region, 1462 consultation requests were received at specialist centres in 2009, relating to 519 patients with a minor head injury diagnosis (ICD 850-854). These were compared with the details of 1895 patients admitted with the same diagnosis during 2009, but for whom no consultations were requested. The mortality risk in the two groups was estimated using logistic regression, after adjusting for the principal confounding factors (sex, age, seriousness of the patient's injury at diagnosis, referral centre). The estimated risk of death for patients for whom no consultation was requested was an odds ratio of 1.32 (95% CI 1.08 to 1.74) compared to those who received a teleconsultation. However, after adjusting for the confounding factors, the risk was not significant (odds ratio = 1.25, 95% CI 0.83 to 1.91). A stratified analysis identified a significant effect for elderly people, aged over 70 years, in whom the odds ratio was 1.14 (95% CI 1.04 to 1.82). The results confirm the benefits of telemedicine, in particular for elderly patients, when teleconsultation is requested in the case of minor head injury.

Neuropathic pain in post-burn hypertrophic scars: a psychophysical and neurophysiological study.

INTRODUCTION: Pain complicates hypertrophic post-burn pathologic scars (PPS) METHODS: To investigate the possible neuropathic origin of pain, 13 patients with painful PPS involving at least 1 hand underwent clinical examination, including the Douleur Neuropathique en 4 questions (DN4) questionnaire; median, ulnar, and radial nerve conduction studies (NCS); cold- (CDT) and heat-induced pain threshold evaluation by quantitative sensory testing; and cutaneous silent period (CSP) testing of the abductor pollicis brevis. Controls included 9 patients with non-painful PPS, 52 healthy subjects, and 28 patients with carpal tunnel syndrome (CTS). RESULTS: All patients with painful PPS had possible neuropathic pain (DN4 score ≥4). NCS signs of CTS were similarly present in PPS subjects with or without pain. Hands with painful PPS had lower CDT and CSP duration, more frequent cold- and heat-pain hypesthesia, and more thermal allodynia than controls. CONCLUSIONS: In PPS, possible neuropathic pain is associated with psychophysical and neurophysiological abnormalities suggestive of small-fiber damage.

Chiari and Syringomyelia Consortium: a model of multidisciplinary and sharing path for rare diseases.

Piemonte and Valle d'Aosta Interregional Network for Rare Diseases (RD) is a model of "diffuse" network; it involves all the health system specialists devoted to the diagnosis, the therapy and the follow-up of a RD. The Consortium is a multidisciplinary team operating throughout the Region composed of volunteer Physicians and Biologists that promotes periodical meetings to develop shared protocols. In 2008 the Specialist-Technical Committee for the Interregional RD Network approved the set up of the "Chiari and Syringomyelia Consortium" (CSC) with two specific objectives: to identify the shared diagnostic criteria and to develop the interdisciplinary diagnostic-therapeutic-assistance path (DTAP) to be used interregionally. Other objectives are: to define the prevalence of the pathologies (both symptomatic and asymptomatic, both in adults and children) and to improve collaboration between the patient Associations and the Physicians.

Traumatic peripheral nerve injuries: epidemiological findings, neuropathic pain and quality of life in 158 patients.

The objectives of this study were (1) epidemiological analysis of traumatic peripheral nerve injuries; (2) assessment of neuropathic pain and quality of life in patients affected by traumatic neuropathies. All consecutive patients with a diagnosis of traumatic neuropathies from four Italian centres were enrolled. Electromyography confirmed clinical level and site diagnosis of peripheral nerve injury. All patients were evaluated by disability scales, pain screening tools, and quality of life tests. 158 consecutive patients for a total of 211 traumatic neuropathies were analysed. The brachial plexus was a frequent site of traumatic injury (36%) and the radial, ulnar, and peroneal were the most commonly involved nerves with 15% of iatrogenic injuries. Seventy-two percent of the traumatic neuropathies were painful. Pain was present in 66% and neuropathic pain in 50% of all patients. Patients had worse quality of life scores than did the healthy Italian population. Moreover, there was a strong correlation between the quality of life and the severity of the pain, particularly neuropathic pain (Short Form-36 [SF-36] p < 0.005; Beck Depression Inventory [BDI] p < 0.0001). Traumatic neuropathies were more frequent in young males after road accidents, mainly in the upper limbs. Severe neuropathic pain and not only disability contributed to worsening the quality of life in patients with traumatic neuropathies.

Validation of the Italian version of the Neuropathic Pain Symptom Inventory in peripheral nervous system diseases.

The aim of this study was to validate the Italian version of the Neuropathic Pain Symptom Inventory (NPSI) in patients with neuropathic pain due to peripheral nerve diseases, and also to evaluate the validity of a new NPSI score: a frequency weighted NPSI score (NPSI-FW). First, the original version of the NPSI was translated into Italian. Then the validity and reliability of the Italian NPSI (I-NPSI) were tested in 392 Italian patients consecutively referred to 16 Italian outpatient services for peripheral nerve diseases, by correlating the I-NPSI scores with other pain scales. The repeatability and responsiveness were assessed. A significant correlation between the I-NPSI scores and all the other pain measures was seen. Reproducibility and responsiveness were good. Our study shows the validity of the I-NPSI and demonstrates its reliability for assessing neuropathic pain in patients with peripheral nerve diseases. The I-NPSI scores represent reliable measurements to assess neuropathic symptoms and effectiveness of treatment on them.