Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients remain genetically undiagnosed despite screening for known genetic causes of HSP. Therefore, identification of novel variants and genes is needed. Our previous study analyzed 74 adult Serbian HSP patients from 65 families using panel of the 13 most common HSP genes in combination with a copy number variation analysis. Conclusive genetic findings were established in 23 patients from 19 families (29%). In the present study, nine patients from nine families previously negative on the HSP gene panel were selected for the whole exome sequencing (WES). Further, 44 newly diagnosed adult HSP patients from 44 families were sent to WES directly, since many studies showed WES may be used as the first step in HSP diagnosis. WES analysis of cohort 1 revealed a likely genetic cause in five (56%) of nine HSP families, including variants in the ETHE1, ZFYVE26, RNF170, CAPN1, and WASHC5 genes. In cohort 2, possible causative variants were found in seven (16%) of 44 patients (later updated to 27% when other diagnosis were excluded), comprising six different genes: SPAST, SPG11, WASCH5, KIF1A, KIF5A, and ABCD1. These results expand the genetic spectrum of HSP patients in Serbia and the region with implications for molecular genetic diagnosis and future causative therapies. Wide HSP panel can be the first step in diagnosis, alongside with the copy number variation (CNV) analysis, while WES should be performed after.

Chronic inflammatory demyelinating polyradiculoneuropathy: Diagnostic problems in clinical practice in Serbia.

Making diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is challenging since it can mimic a multitude of disorders, and is misdiagnosed in at least 50% of cases. We sought to determine the frequency of CIDP misdiagnosis in clinical practice in Serbia, to uncover CIDP mimics, and to identify factors that may aid in CIDP diagnosis. Our longitudinal retrospective cohort study included 86 eligible adult patients referred to the Neurology Clinic, University Clinical Centre of Serbia, with a diagnosis of CIDP. We also included 15 patients referred to us with different diagnoses that ended up having CIDP as their final diagnosis. Exactly half of patients referred as CIDP failed to meet the established diagnostic criteria (non-CIDP) and were given an alternative diagnosis at the first hospitalization. At the 1-year follow-up, the diagnosis was further revised in four subjects. Confirmed CIDP patients usually had their initial diagnosis based on the nerve conduction studies (NCS), a typical presentation with symmetrical involvement of all four limbs, as well as higher frequencies of elevated protein levels and albuminocytologic dissociation in the cerebrospinal fluid (CSF). CIDP patients also responded better to immune therapy. We found that 52% of the patients initially referred to our Clinic as CIDP were given other diagnoses after a 1-year follow-up. Out of all CIDP cases, 27% had been unrecognized prior to referral to our Center. Utilization of clear and objective indicators - conclusive NCS, improvement on therapy, and elevated CSF proteins may provide greater certainty in diagnosing CIDP.

Clinical score for early diagnosis of myotonic dystrophy type 2.

INTRODUCTION: Myotonic dystrophy type 2 (DM2) is a rare, multisystemic, autosomal dominant disease with highly variable clinical presentation. DM2 is considered to be highly underdiagnosed. OBJECTIVE: The aim of this study was to determine which symptoms, signs, and diagnostic findings in patients referred to neurological outpatient units are the most indicative to arouse suspicion of DM2. We tried to make a useful and easy-to-administer clinical scoring system for early diagnosis of DM2-DM2 early diagnosis score (DM2-EDS). PATIENTS AND METHODS: Two hundred ninety-one patients with a clinical suspicion of DM2 were included: 69 were genetically confirmed to have DM2, and 222 patients were DM2 negative. Relevant history, neurological, and paraclinical data were obtained from the electronic medical records. RESULTS: The following parameters appeared as significant predictors of DM2 diagnosis: cataracts (beta = 0.410, p < 0.001), myotonia on needle EMG (beta = 0.298, p < 0.001), hand tremor (beta = 0.211, p = 0.001), positive family history (beta = 0.171, p = 0.012), and calf hypertrophy (beta = 0.120, p = 0.043). In the final DM2-EDS, based on the beta values, symptoms were associated with the following values: cataracts (present 3.4, absent 0), myotonia (present 2.5, absent 0), tremor (present 1.7, absent 0), family history (positive 1.4, negative 0), and calf hypertrophy (present 1.0, absent 0). A cut-off value on DM2-EDS of 3.25 of maximum 10 points had a sensitivity of 84% and specificity of 81% to diagnose DM2. CONCLUSION: Significant predictors of DM2 diagnosis in the neurology outpatient unit were identified. We made an easy-to-administer DM2-EDS score for early diagnosis of DM2.

Myotonic dystrophy type 1 in the COVID-19 era.

INTRODUCTION: Myotonic dystrophy type 1 (DM1) is the most prevalent muscular dystrophy in adults. People with DM1 might represent a high-risk population for respiratory infections, including COVID-19. Our aim was to evaluate the characteristics of COVID-19 infection and vaccination rate in DM1 patients. METHODS: This cross-sectional cohort study included 89 patients from the Serbian registry for myotonic dystrophies. Mean age at testing was 48.4 ± 10.4 years with 41 (46.1%) male patients. Mean duration of the disease was 24.0 ± 10.3 years. RESULTS: COVID-19 infection was reported by 36 (40.4%) DM1 patients. Around 14% of patients had a more severe form of COVID-19 requiring hospitalization. The severity of COVID-19 was in accordance with the duration of DM1. A severe form of COVID-19 was reported in 20.8% of patients who were not vaccinated against SARS-CoV-2 and in none of the vaccinated ones. The majority of 89 tested patients (66.3%) were vaccinated against SARS-CoV-2. About half of them (54.2%) received three doses and 35.6% two doses of vaccine. Mild adverse events after vaccination were recorded in 20.3% of patients. CONCLUSIONS: The percentage of DM1 patients who suffered from COVID-19 was like in general population, but with more severe forms in DM1, especially in patients with longer DM1 duration. The study indicated an overall favorable safety profile of COVID-19 vaccines among individuals with DM1 and its ability to protect them from severe COVID-19.

Antecedent infections and vaccinations in chronic inflammatory demyelinating polyneuropathy: A European collaborative study.

INTRODUCTION/AIMS: Chronic inflammatory demyelinating polyneuropathy (CIDP) may be rarely preceded by infection. A causative link remains unproven, in contrast to Guillain-Barré syndrome (GBS), which is commonly postinfectious with well-demonstrated pathophysiological mechanisms of molecular mimicry following Campylobacter jejuni enteritis. Uncommonly, infections are reported before the onset of CIDP. In this study we aimed to determine the frequency and characteristics of CIDP occurring after antecedent infections or vaccinations in two large European cohorts. METHODS: We reviewed the records of 268 subjects with "definite" or "probable" CIDP from the Inflammatory Neuropathy Clinic, Birmingham, UK (129 subjects), and from the Serbian national CIDP database (139 subjects). RESULTS: Twenty-five of 268 (9.3%) subjects had a respiratory or gastrointestinal infection in the 6 weeks preceding CIDP onset, and 3 of 268 (1.1%) had received an influenza vaccination. CIDP disease onset occurred at a younger age (mean [standard deviation], 44.25 [17.36] years vs 54.05 [15.19] years; P < .005) and acute-onset CIDP was more common (42.9% vs 12.1%; odds ratio, 5.46; 95% confidence interval, 2.35-12.68; P < .001) in subjects with preceding infections or vaccinations. No differences in CIDP subtype, rates of cerebrospinal fluid protein level elevation, disability, or likelihood of treatment response, were observed. DISCUSSION: Antecedent infections or vaccinations may precede about 10% of cases of CIDP and are more common in younger subjects. Acute-onset CIDP is more frequent after antecedent events. These findings may suggest specific pathophysiological mechanisms in such cases.

Psychometric longitudinal evaluation of the Chronic Acquired Polyneuropathy Patient-Reported Index (CAPPRI) in patients with chronic inflammatory demyelinating polyneuropathy.

BACKGROUND: We studied the performance of a 15-item, health-related quality-of-life polyneuropathy scale in a longitudinal study of patients with chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: Sixty-one patients with CIDP completed the Chronic Acquired Polyneuropathy Patient-Reported Index (CAPPRI) scale and Patient Impression of Change (PIC) at baseline and follow-up visits. Clinicians completed Inflammatory Neuropathy Cause and Treatment (INCAT) disability scores at baseline and follow-up visits. Conventional and modern psychometric analyses were performed on the completed forms. RESULTS: CAPPRI was psychometrically stable between visits without significant difference in response pattern between visits 1 and 2 (paired t-test P = .72). There was strong correlation between changes in INCAT and changes in CAPPRI scores between two visits (rho = 0.6, P < .001). In addition, we showed robust CAPPRI effect sizes between PIC categories. CONCLUSIONS: We demonstrated psychometric stability and construct longitudinal validity of CAPPRI.

Prospective analysis of disability and quality of life in patients with chronic inflammatory demyelinating polyradiculoneuropathy.

PURPOSE: Even treated chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) continues to pose a significant burden in patients' everyday functioning and may continuously affect their quality of life (QoL). The aims of our prospective study were to analyze health-related QoL in CIDP patients during a 1-year follow-up period in real-life settings and to compare QoL changes with changes in disability and with patient impression of change. METHODS: The study comprised 59 patients diagnosed with CIDP. SF-36 questionnaire was applied in order to evaluate patients' QoL. Inflammatory neuropathy cause and treatment (INCAT) disability scale was used to assess patients' functionality. The second question from the SF-36 questionnaire was used as an estimation of the patient impression of change (PIC) after 1 year. RESULTS: SF-36 scores did not change over time in the group as a whole. According to INCAT disability scores, worsening was registered in 24 (40%) patients and improvement in 8 (14%). Fifteen (25%) patients reported worsening and the same number reported improvement, according to PIC. Concordant results on INCAT and PIC were registered in 49% of patients. Pooled SF-36 scores moderately correlated with pooled INCAT disability scores (rho = - 0.27 to - 0.59, p < 0.01). One-year changes of SF-36 scores did not differ when compared to different INCAT outcomes (worsening, stable, improvement). On the other hand, significant changes of SF-36 scores in different outcome groups according to PIC (worsening, stable, improvement) were noted (p < 0.01). CONCLUSION: INCAT, PIC, and SF-36 are complementary outcome measures that provide neurologists with useful items of information. We propose complementary use of these scales in CIDP patients in everyday clinical practice in order to detect worsening of the disease and/or of related symptoms on time.

Chronic inflammatory demyelinating polyneuropathy associated with diabetes: a European multicentre comparative reappraisal.

INTRODUCTION: The association between chronic inflammatory demyelinating polyneuropathy (CIDP) and diabetes is uncertain despite important diagnostic and management implications. METHODS: We retrospectively analysed two European cohorts, totaling 257 patients with 'definite' or 'probable' CIDP, from Serbia and Birmingham, UK. RESULTS: Diabetes was present at CIDP diagnosis in 25/139 (18%) subjects in the Serbian cohort and in 23/118 (19.5%) in the UK cohort. In both cohorts, diabetes prevalence was higher than local general population prevalence rates (RR: 2.09; 95% CI 1.39 to 2.95 and RR: 2.22; 95% CI 1.46 to 3.17, respectively). Considering typical CIDP only, diabetes prevalence was greater than expected in both cohorts (RR: 2.58; 95% CI 1.60 to 3.82 and RR: 2.68; 95% CI 1.71 to 3.87, respectively). CIDP with diabetes occurred later in life than CIDP without diabetes (58.96 years, SD: 11.09 vs 51.71 years, SD: 16.02; p=0.003) and presented more frequently in the typical form than in patients without diabetes (79.2% vs 61.2%; p=0.02). Baseline Inflammatory Neuropathy Cause and Treatment disability scores were similar in patients with and without diabetes (p=0.90). Proportions of treatment responders were similar in both groups (70% vs 74.9%; p=0.65), as were response amplitudes (p=0.87). DISCUSSION: Our results, both for all CIDP and typical CIDP presentations, support a twofold increased relative risk of diabetes compared with the general population. CIDP with diabetes appears to present older and more frequently in the typical form, as compared with CIDP without diabetes. CIDP with diabetes appears similar to CIDP without diabetes in disability levels at diagnosis and probability, as well as amplitude of treatment response.

Incidence and mortality rates of Guillain-Barré syndrome in Serbia.

Guillain-Barré syndrome (GBS) is an acute auto-immune polyradiculoneuropathy. A huge variety of GBS incidence and mortality rates has been noted across the world. The objective of the present multi-centric study was to assess the incidence and mortality rates of GBS during a 10-year period in Serbia. We collected data of adult GBS patients who were hospitalized from 2009 to 2018 in all five tertiary healthcare centers in Serbia. The incidence rates per 100 000 inhabitants with 95% confidence intervals (CI) were calculated and further corrected for the estimated number of patients hospitalized in secondary centers. Mortality rates were also assessed. GBS was considered severe if patients were not able to walk at least 10 m without assistance. Six hundred and forty GBS patients were registered in tertiary centers in a 10-year period. The proportion of severe cases was 75% at nadir, and 52% on discharge. GBS incidence rate in Serbia was 1.1 per 100 000 inhabitants, and estimated incidence if patients from secondary centers included 1.2 per 100 000. Peak incidence was observed during the sixth decade of life. During the acute phase, 5.6% of GBS patients died, while overall 9.7% of them died during 6-month period from disease onset. This study contributes to our knowledge about GBS epidemiology. Results will allow us to improve the diagnosis and treatment of GBS patients in Serbia.

Six-month prospective study of quality of life in Guillain-Barre syndrome.

OBJECTIVE: Guillain-Barre syndrome (GBS) is an acute disease of the peripheral nerves and their roots. Quality of life (QoL) in the first year after acute episode of GBS is still underresearched area. The aim of our study was to investigate QoL in GBS patients during a 6-month follow-up period. METHODS: Multicentric, prospective study included 74 adult patients with GBS (54% males). GBS disability scale (GDS) was used to assess functional disability (severe disability GDS > 2), and Individualized Neuromuscular Quality of Life Questionnaire (INQoL) to asses QoL. Patients were tested on day 14, day 28, month 3, and month 6 from symptom onset. RESULTS: Disability as measured by GDS improved during time (P < .01). INQoL scores also improved during time (P < .01) but were not able to differentiate between day 14 and day 28, and some scores also did not make difference between month 3 and 6 (pain, social relations, emotions and total INQoL score; P > .05). Pooled GDS scores correlated with pooled INQoL scores, especially with independence, activities, and weakness subscores (P < .01). Multiple linear regression analysis showed that GDS at day 14 (ß = .52, P < .01) and fatigue score at day 14 (ß = .41, P < .01) were independent predictors of the worse GDS at month 6 (adjusted R2  = .34, P < .01 for overall model). CONCLUSIONS: During a 6-month follow-up period of GBS patients, we observed a gradual recovery of patients' disability and QoL. Our study confirms the importance of patient-reported outcomes and their ability to capture some important issues that are omitted by classic ability measures such as GDS.

Neuropathic pain in patients with Charcot-Marie-Tooth type 1A.

BACKGROUND: Only several studies analyzed the characteristics of neuropathic pain (NeP) more extensively in patients with Charcot-Marie-Tooth type 1A (CMT1A). Therefore, we sought to determine the frequency and features of NeP in CMT1A patients and to assess the association between NeP and sociodemographic and clinical characteristics of patients with CMT1A. METHODS: Our research included 51 genetically diagnosed CMT1A patients. The International Association for the Study of Pain (IASP) criteria were used for diagnosis of NeP. PainDETECT questionnaire (PD-Q) was used to assess NeP features. The Medical Research Council (MRC) Sum Score, CMT Neuropathy Score (CMTNS), Overall Neuropathy Limitation Scale (ONLS) score, and Beck Depression Inventory were also used. RESULTS: NeP was present in 15 (29.4%) patients with CMT1A. The average intensity of pain was 5.7 ± 2.2 out of 10. The most sensitive neuropathic symptoms were numbness, then tingling, and burning sensations, while the most specific symptom was allodynia. Patients with NeP more frequently reported pain in the back (p < 0.01) and the trunk (p < 0.05). Patients with NeP had more pronounced disability of the upper extremities and overall disability, as assessed by the ONLS score (p < 0.05). Depression was more frequent in patients with NeP compared with patients without NeP (66.7 to 13.9%, p < 0.01). CONCLUSION: NeP was present in almost one-third of the patients with CMT1A and it was moderate on average. Presence of NeP was associated with worse functional disability and depression.

Chronic Acquired Polyneuropathy Patient Reported Index (CAPPRI) in chronic inflammatory demyelinating polyradiculoneuropathy.

To date there are only two validations on the Chronic Acquired Polyneuropathy Patient-Reported Index (CAPPRI) questionnaire, both originated from the North America. We sought to translate and validate CAPPRI for use in Serbian patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). We included 109 CIDP patients. CAPPRI, short form (36) health survey (SF-36), Medical Research Council Sum Score (MRC-SS), Inflammatory Neuropathy Cause and Treatment (INCAT) sensory and disability scores, Beck Depression Inventory (BDI), and Krupp's Fatigue Severity Scale (FSS) were used. Serbian CAPPRI questionnaire was understandable and the language was appropriate and simple. Calculation demonstrated good person (0.9) and item (0.9) reliability with adequate item (4.1), and person (2.9) separation indices. There was a minor floor effect (13.8%), and no ceiling effect. All items had good fit, except items 2 (pain), 5 (sleeping), and 14 (eating) to some degree. Category responses were well ordered and organized, except item 14 (eating). The CAPPRI score did not vary regarding gender, age, or education. Patients with worse scores on MRC-SS, INCAT sensory score, INCAT disability score, FSS, and BDI had worse scores on CAPPRI (P < .01). The CAPPRI score showed strong correlation with the SF-36 score (rho = -0.76, P < .01). The Serbian version of the CAPPRI is reliable and valid patient-reported index for patients with CIDP, able to differentiate between levels of impairment and disability in this disease.

One-year follow-up study of neuropathic pain in chronic inflammatory demyelinating polyradiculoneuropathy.

We sought to gather information about frequency and features of neuropathic pain (NeP) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients and to investigate course of NeP during 1-year follow-up. Study included 105 patients diagnosed with CIDP. Patients with diabetes (N = 26) were excluded. NeP was diagnosed by the official guidelines and painDETECT questionnaire (PD-Q). Medical Research Council Sum Score (MRC-SS), INCAT disability and sensory scores, and Beck Depression Inventory were also measured. PD-Q showed presence of NeP in 16 (20%) of 79 CIDP patients and their mean pain was moderate (5.1 ± 3.0 of 10). Diagnostic delay in CIDP patients with NeP was prolonged compared to CIDP patients without NeP (21 ± 28 vs 9 ± 12 months, P < .05). Slowly progressive course of the disease was more frequent in patients with NeP (81% vs 52%, P < .05). Patients with NeP had worse INCAT sensory score (P < .01), INCAT disability score (P < .05), MRC-SS, as well as worse disease outcome at time of testing (P < .05). Depression was more common in patients with NeP (69% vs 17%, P < .01). During 1-year follow-up, majority of our CIDP patients had good control of NeP with gabapentinoids or amitriptyline. NeP was common in our cohort of non-diabetic CIDP patients. It was associated with worse functional disability, worse sensory deficit, and depression. Special attention should be paid to CIDP patients with NeP because they request additional symptomatic therapy that appeared efficacious in our cohort.

Validation of the Serbian version of inflammatory Rasch-built overall disability scale in patients with chronic inflammatory demyelinating polyradiculoneuropathy.

Inflammatory Rasch-built overall disability scale (I-RODS) seems to be a valid activity measure for use in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Our aim was to translate and validate the I-RODS for use in CIDP patients from Serbia. Study comprised 83 patients diagnosed with CIDP. I-RODS was translated and cross-culturally validated using the standard guidelines. Following scales were also administered: Medical Research Council (MRC) sum score, Inflammatory Neuropathy Cause and Treatment (INCAT) sensory and disability scores, Krupp's Fatigue Severity Scale, Beck Depression Inventory, Visual Analogue Scale for pain, and health survey-36 (SF-36) as a quality of life measure. According to the I-RODS, significant proportion of our patients reported that "running" (51%), "dancing" (41%), and "standing for hours" (40%) were impossible tasks to perform, while "teeth brushing" (94%), "eating" (88%), and "reading a newspaper/book" (82%) were noted as the easiest items. Patients with more muscle weakness (lower MRC sum score) and more severe INCAT sensory score had lower I-RODS score (P < .01). Also, patients with fatigue, depression and pain had lower I-RODS scores (P < .01). I-RODS score correlated with the INCAT disability score (P < 0.01) was 78 ± 19 compared to 51 ± 30 in patients with INCAT >1 (P < .01). I-RODS score correlated with the total SF-36 score (rho = +0.73, P < .01), as well as with all SF-36 domain scores. Serbian version of the I-RODS seems to be a valid activity measure for use in CIDP patients. I-RODS was able to assess different levels of disability, it was in association with impairment measures, INCAT disability scale and quality of life. Further studies are needed to assess its responsiveness.

Body composition analysis in patients with myotonic dystrophy types 1 and 2.

INTRODUCTION: To date, there are only several reports on body composition in myotonic dystrophy type 1 (DM1) and there are no data for myotonic dystrophy type 2 (DM2). The aim was to analyze body composition of patients with DM1 and DM2, and its association with socio-demographic and clinical features of the diseases. METHODS: There were no statistical differences in sociodemographic features between 20 DM1 patients and 12 DM2 patients. Body composition was assessed by DEXA (dual-energy x-ray absorptiometry). A three-compartment model was used: bone mineral content (BMC), fat mass (FM), and lean tissue mass (LTM). RESULTS: Patients with DM1 and DM2 had similar total body mass (TBM), BMC, FM, and LTM. Patients with DM1 had higher trunk-limb fat index (TLFI) in comparison to DM2 patients which indicates visceral fat deposition in DM1 (1.16 ± 0.32 for DM1 vs. 0.87 ± 0.23 for DM2, p < 0.05). Right ribs bone mineral density was lower in DM2 group (0.68 ± 0.07 g/cm2 vs. 0.61 ± 0.09 g/cm2, p < 0.05). Higher percentage of FM in legs showed correlation with lower strength of the upper leg muscles in DM1 (ρ = - 0.47, p < 0.05). Higher muscle strength in DM2 patients was in correlation with higher bone mineral density (ρ = + 0.62, p < 0.05 for upper arm muscles, ρ = + 0.87, p < 0.01 for lower arm muscles, ρ = + 0.72, p < 0.05 for lower leg muscles). CONCLUSION: DM1 patients had visceral obesity, and percentage of FM correlated with a degree of muscle weakness in upper legs. In DM2 patients, degree of muscle weakness was in correlation with higher FM index and lower bone mineral density.

Employment status of patients with chronic inflammatory demyelinating polyradiculoneuropathy.

It has been previously shown that patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) who are unemployed or retired have worse quality of life. The aim of this study was to assess predictors of early retirement in CIDP. One hundred five patients with CIDP were included. Following measures were used: questionnaire on employment status, Medical Research Council Sum Score, INCAT disability score, Beck Depression Inventory, and Krupp's Fatigue Severity Scale. At the moment of testing, 2% of patients were students, 15% were employed, 9% were unemployed due to CIDP, 9% were unemployed but not due to CIDP, 28% were retired early due to disability caused by CIDP, and finally 37% were in old-age pension. Mean age when patients retired due to CIDP was 50 ± 8 years. Mean time from CIDP onset to retirement was 2.7 ± 2.3 years. Older age at onset, lower education, and more severe weakness at the time of diagnosis were significant predictors of early retirement due to CIDP. Retired patients were 12 times more likely to suffer from depression, compared to employed patients (OR = 12.2, 95% CI = 1.41-100, P < 0.01), and eight times more likely to have fatigue (OR = 8.2, 95% CI = 1.89-35.82, P < 0.01). Older patients with lower education and more severe weakness at the time of diagnosis were most likely retired due to CIDP. Early retirement was associated with depression and fatigue. Therefore, maintaining employment should be an important aim in the management of CIDP patients.

Neuromuscular disease-specific questionnaire to assess quality of life in patients with chronic inflammatory demyelinating polyradiculoneuropathy.

To date, generic questionnaires have been used to investigate quality of life (QoL) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) patients. Although these measures are very useful, they are not usually precise enough to measure all specific characteristics of the disease. Our aim was to investigate QoL using the neuromuscular disease-specific questionnaire (individualized neuromuscular quality of life, INQoL) in a large cohort of patients with CIDP. Our study comprised 106 patients diagnosed with CIDP. INQoL questionnaire, Medical Research Council (MRC) sum score, Inflammatory Neuropathy Cause and Treatment (INCAT) disability score, Visual Analogue Pain Scale, Beck Depression Inventory, and Krupp's Fatigue Severity Scale were used in our study. Physical domains of INQoL were more affected than mental, and the overall score was 57 ± 25. Significant predictors of higher INQoL score in our patients with CIDP were severe fatigue (ß = 0.35, p < 0.01), higher INCAT disability score at time of testing (ß = 0.29, p < 0.01), and being unemployed/retired (ß = 0.22, p < 0.05). QoL was reduced in our cohort of CIDP patients, which was more pronounced in physical segments. Patients with fatigue, more severe disability, and unemployed/retired need special attention of neurologists because they could be at greater risk to have worse QoL.

Three-Year Follow-Up Study in Patients with Guillain-Barré Syndrome.

A majority of patients with Guillain-Barré syndrome (GBS) have tendency of a good recovery. Our aim was to evaluate the outcome of the disease 1 and 3 years after GBS symptom onset. METHODS: During 2014, GBS was diagnosed in 82 patients in seven tertiary healthcare centers. Neurological follow-up was conducted in 57 (70%) patients after 1 year, and in 54 (66%) after 3 years. Functional disability was estimated according to the GBS disability scale (GDS), with a score of 0-3 indicating mild disability and a score of 4-6 indicating severe disability during acute phase, whereas a score >1 indicated poor recovery on follow-ups. Visual analog scale was used to assess sensory symptoms and musculoskelatal pain, and Krupp's Fatigue Severity Scale was used to asses fatigue. RESULTS: Poor functional outcome was found in 39% of GBS patients at year 1 and 30% at year 3. Paresthesias/dysesthesias were detected in 60% of patients after 1 year and 43% after 3 years. Musculoskeletal pain was present in 40% of patients at year 1 and 33% at year 3. Significant fatigue after 1 year was found in 21% of subjects and after 3 years in 7%. Parameters associated with poor functional outcome after 1 year were age >55 years (p=0.05), severe disability at admission (p1 indique une récupération difficile au moment des suivis. L'échelle visuelle analogue (EVA) a aussi été utilisée pour évaluer leurs symptômes sensoriels et leurs douleurs musculo-squelettiques. Enfin, l'échelle de gravité de la fatigue de Krupp a été utilisée pour évaluer leur degré de fatigue. Résultats: La première année, on a observé une piètre amélioration des capacités fonctionnelles chez 39% des patients atteints du SGB; pour la troisième année, cette proportion était de 30%. Au bout d'un an, on a aussi détecté la présence de paresthésie/dysesthésie chez 60% des patients; pour la troisième année, cette proportion était de 43%. Des douleurs musculo-squelettiques ont été rapportées chez 40% des patients après un an; deux ans plus tard, ce pourcentage chutait à 33%. Enfin, un état de fatigue important a été noté chez 21% des patients au bout d'un an; ce pourcentage n'était plus que de 7% au bout de trois ans. Les paramètres associés à une piètre amélioration des capacités fonctionnelles au bout d'un an étaient l'âge (>55 ans; p=0,05) ainsi qu'une incapacité sévère au moment de leur admission (p<0,05) et de leur congé (p<0,01). Au bout de trois ans, une piètre amélioration des capacités fonctionnelles était associée au sexe masculin (p<0,05) et à une incapacité sévère au moment d'obtenir un congé (p=0,06). CONCLUSIONS: Un an et trois ans après l'apparition des premiers symptômes du SGB, un nombre important de patients donnaient à voir des séquelles neurologiques, ce qui incluait une forme ou une autre d'incapacité fonctionnelle, des symptômes sensoriels, des douleurs et un état de fatigue.

Diabetes mellitus may affect short-term outcome of Guillain-Barré syndrome.

We sought to determine influence of diabetes mellitus on Guillain-Barré syndrome (GBS) course and short-term prognosis. Among the 257 GBS patients included in this retrospective study, diabetes mellitus was present in 17%. The degree of disability at admission and on discharge was assessed according to the GBS Disability Scale (mild disability = 0-3, severe disability = 4-6). Even after correction for age, diabetes mellitus was significantly associated with more severe disability at nadir (odds ratio, OR = 3.4, p < 0.05) and on discharge (OR = 2.0, p < 0.05). Linear regression analysis with multiple factors included showed that age and presence of diabetes were significant predictors of severe disability at nadir (adjusted R2 = 0.21, p < 0.05), and on discharge (adjusted R2 = 0.19, p < 0.05). The presence of diabetes mellitus affects short-term prognosis of GBS, independent of age.