INTRODUCTION:Malnutrition is a common and clinically significant problem among individuals with Parkinson's disease (PD), adversely affecting overall health and quality of life. The Mini Nutritional Assessment-Short Form (MNA-SF) is widely used for malnutrition screening in diverse clinical populations; however, its diagnostic utility in PD has not been fully established. This study aimed to evaluate the validity of the MNA-SF in detecting malnutrition among patients with PD. METHODS:This prospective cross-sectional study included 42 patients with PD. Demographic characteristics, disease-related variables, and nutritional parameters were recorded. Malnutrition was diagnosed using clinical criteria based on ESPEN guidelines. All participants underwent the MNA-SF, and score distributions were compared with clinical malnutrition status. Diagnostic accuracy was assessed using ROC curve analysis. RESULTS:Of the 42 participants, 22 (52.4%) were women, with a mean age of 59.33 ± 10.19 years. Clinically, 23.8% were diagnosed with malnutrition. According to the MNA-SF classification, 21.4% were malnourished, 38.1% were at risk, and 40.5% had a normal nutritional status. Malnourished patients had significantly lower MNA-SF scores than those without malnutrition (p = 0.004). The MNA-SF demonstrated good diagnostic performance, with an AUC of 0.80 (95% CI: 62.1-97.9; p = 0.005). Using a cut-off score of < 8.5, the sensitivity was 70.0%, and the specificity was 87.5%. CONCLUSIONS:The MNA-SF may be a useful screening tool for identifying malnutrition in patients with PD. However, the proposed < 8.5 cut-off should be considered exploratory and requires external validation in larger and more diverse PD populations before broader clinical application.
Background: Abrupt cessation of deep brain stimulation (DBS) in Parkinson’s disease (PD), most commonly due to implantable pulse generator (IPG) battery depletion, may lead to DBS withdrawal syndrome (DBS-WDS). However, withdrawal syndrome does not occur in all patients following stimulation cessation. Methods: We retrospectively analyzed 210 PD patients treated with DBS. Patients with documented stimulation cessation were evaluated for the presence of withdrawal syndrome based on established clinical criteria. Demographic, disease-related, and treatment characteristics were assessed, and descriptive analysis was conducted on severe cases requiring intensive care. Results: DBS battery shutdown occurred in 28 patients (13.3%). Most patients did not develop withdrawal syndrome and experienced only transient motor worsening. Severe DBS-WDS requiring intensive care was rare, occurring in only three patients (1.4%). Battery shutdown alone did not predict withdrawal, nor was preoperative levodopa equivalent daily dose associated with withdrawal risk. Conclusions: DBS battery shutdown is usually not accompanied by withdrawal syndrome, and severe DBS-WDS is uncommon. Proactive battery management may help to prevent this rare but serious complication.
MANAGE-PD is a clinical decision-support web-based tool that facilitates healthcare professionals in determining patients with Parkinson’s disease who are inadequately controlled on oral medications. This was the first national, non-interventional study aimed to assess the distribution of patients throughout MANAGE-PD categories, and the clinical characteristics, concordance with physician assessment and tool categorization, and usability of the tool MANAGE-PD in Türkiye. Patients were classified into three treatment groups based on symptom control and therapeutic requirements: adequately controlled on current oral therapy (Category 1), inadequately controlled with a recommendation for oral therapy optimization (Category 2) and inadequately controlled with a recommendation for both oral optimization and consideration of device-aided treatment (DAT) (Category 3). The main outcome was the proportion of patients in the MANAGE-PD categories. Secondary outcomes included clinical features within each group, agreement between MANAGE-PD categorization and physician assessment, planned therapy changes, physician-rated acceptability, and completion time. Clinical evaluations included MDS-UPDRS, NMSS for motor and non-motor symptoms, as well as the PDQ-8 for quality of life. The ease of use of the MANAGE-PD tool was assessed by the physicians using Visual Analog Scale. A total of 514 PD patients from 16 sites were included in the study, of whom 217 patients (42.2
Background: Dystonic cerebral palsy (DCP) is a complex, disabling manifestation of secondary dystonia, which significantly impacts motor function, quality of life, and well-being. Conventional pharmacologic therapies frequently do not relieve symptoms sufficiently. Deep brain stimulation (DBS) of the globus pallidus internal segment (GPi) has gained increasing attention as a neuromodulatory therapy for refractory dystonia. Still, the experience of the effect of GPi DBS treatment in adults with DCP has, until recently, been limited. Methods: We performed a retrospective, two-center case series of 11 adult patients with medically refractory DCP who underwent bilateral GPi-DBS. The clinical outcomes were evaluated based on the Burke–Fahn–Marsden Dystonia Rating Scale (BFMDRS), the Functional Independence Measure (FIM), the Gross Motor Function Classification System (GMFCS), and the Caregiver Burden Scale (CBS. The assessments were done preoperatively and at 1-year follow-up. Changes in continuous variables were analyzed using paired t-tests. Results: At the 1-year follow-up, the mean BFMDRS score improved from 69.6 ± 27.6 to 54.3 ± 36.5 (p = 0.001), indicating a significant reduction in overall dystonia severity. Functional independence also improved, demonstrated by the rise in FIM scores from 65.3 ± 33.9 to 79.2 ± 43.4 (p = 0.006). Although GMFCS levels did not change in most patients (p = 0.125), the burden on caregivers decreased significantly, with CBS scores falling from 35.7 ± 18.8 to 32.0 ± 17.1 (p = 0.015). There were no surgical complications. Conclusions: In adults, bilateral GPi-DBS is a safe and effective intervention for DCP, improving motor control and increasing functional independence while decreasing caregiver burden. These findings lend support to its role in the multidisciplinary management of DCP.
Background/Objectives: Malnutrition is a frequently observed and essential problem among patients with Parkinson's Disease (PD) that significantly affects their overall health and quality of life. The Mini Nutritional Assessment Short Form (MNA-SF) is a standard tool for screening malnutrition in diverse clinical populations. However, the suitability of MNA-SF to detect nutritional deficiencies in PD patients requires a comprehensive evaluation. In this context, we determined the usefulness of MNA-SF as a tool to identify dietary problems in patients with PD. Methods: Demographic data, disease characteristics, and nutritional characteristics of 42 patients with PD were recorded. Patients were evaluated for malnutrition using clinical scoring. In addition, MNA-SF was applied to each patient, and the results were compared with clinical scores. Results: 22 of 42 patients (or 52.4%) were female, and the mean age of the patients was 59.33±10.19 years. In clinical malnutrition diagnoses, 76.2% of the participants were not malnourished, while the rate of malnourished patients was 23.8%. According to the MNA-SF assessment, 21.4% were malnourished, 38.1% were at risk of malnutrition, and 40.5% showed normal nutrition. The patients who were malnourished had a lower MNA-SF score when compared to the patients who were not malnourished (p =.004). The area under the curve (AUC) is 80.0 percent (CI: 62.1-97.9), effectively distinguishing those malnourished and those not (P=0.005). The sensitivity and specificity were 70.0% and 87.5%, respectively, using a threshold score below 8.5 (CI: 39.7-89.2) (CI: 71.9-95.0). Conclusions: The MNA-SF is a reliable and sufficient tool for identifying malnutrition in individuals with PD. city were 70.0% and 87.5%, respectively, using a threshold score below 8.5 (CI: 39.7-89.2) (CI: 71.9-95.0). Conclusions: The MNA-SF is a reliable and sufficient tool for identifying malnutrition in individuals with PD.
OBJECTIVE:Postural deformities such as camptocormia affect over 30% of Parkinson's disease patients, impairing balance, gait, and quality of life. This study evaluated a vibratory-feedback posture brace versus conventional exercises in Parkinson's disease. DESIGN:In this pilot randomized controlled trial, 28 individuals with idiopathic Parkinson's disease (Hoehn & Yahr stage 2-3) and stooped posture were assigned to either a 6-wk daily exercise program (posture exercise group, n = 13) or a wearable brace (sensor brace group, n = 15), worn around 8 hrs/d. The brace delivered vibration cues when forward flexion exceeded a set threshold. Primary outcomes were craniovertebral and cranio-horizontal angle (APECS); the secondary was static balance (Tetrax fall index). Group × time effects were analyzed using repeated-measures analysis of variance (α = 0.05). RESULTS:Groups were similar at baseline. At 2 wks, only the sensor brace group showed significant improvement in cranio-horizontal angle (~ -2°, P = 0.046), indicating a short-term, localized benefit. By 6 wks, both groups had modest head posture improvements. Trunk sagittal angle and fall index showed no significant change. CONCLUSIONS:The sensor-based brace improved upper cervical posture in the short-term and was well tolerated. Longer training or combined strategies may yield greater functional gains.
BACKGROUND:Understanding real-world experiences is crucial in determining the potential gaps in patient-centered healthcare in dystonia. We explored the challenges of people with dystonia (PwD) at the stages of diagnosis and botulinum neurotoxin (BoNT) treatment. METHODS:A multicenter survey was conducted face-to-face across seven university hospitals in Turkey. PwD receiving BoNT treatment for at least 6 months were invited. Data on demographics, diagnostic journeys, and treatment experiences were collected and analyzed using descriptive statistics and regression models. RESULTS:A total of 789 PwD participated, reporting significant burdens during both diagnostic and treatment stages. Diagnosis was delayed by approximately 1 year, with 15% receiving incorrect initial diagnoses. Additionally, 30.7% of PwD traveled to another city, and 42.6% applied to private clinics for diagnosis, leading to a substantial logistic and financial burden. The treatment stage revealed that a quarter of PwD had to travel significant distances every 3 months, or applied to a private clinic to receive BoNT injections, creating considerable cost and effort. In addition, PwD with oromandibular dystonia were three times and task-specific dystonia were around nine times less likely to be satisfied with BoNT treatment compared to facial dystonia. Alternative treatment was reported in 11%, with no substantial benefit. CONCLUSIONS:The findings highlight critical unmet needs in the diagnostic and treatment processes for PwD. These include improvement in diagnostic accuracy, reduced travel and financial burdens, and enhanced treatment satisfaction. An action plan emphasizing resource utilization policies and educational activities for healthcare providers is essential to address these challenges.
Background/objectivesThis study aimed to evaluate compliance and accuracy in comparison with traditional PD diaries for tracking motor symptoms using a new smartphone application (MyParkinson’s) and paper diary strategies. Parkinson’s disease (PD) is a neurodegenerative disorder with progressive motor symptoms. Treatment becomes more challenging as PD progresses, motor complications in the form of wearing-off phenomenon and levodopa-induced dyskinesia develop. Traditional paper diaries and clinical scales used to evaluate patients may be inadequate in assessing whether the patient is “on” or “off,” resulting in less-than-ideal treatment changes.MethodsA randomized crossover design was utilized to examine 22 advanced PD patients who underwent symptomatic assessment with both diaries during two separate 24-h periods seven days apart. The compliance and accuracy of data were assessed by comparing diary entries with the clinical examination notes and WhatsApp queries. LaOerly, patients’ diary preferences were also evaluated.ResultsThe digital diary had significantly beOer compliance and accuracy than the paper diaries, with substantial/almost perfect levels of agreement (κ = 0.615 to 0.818) between logged symptoms and clinical examination notes. 65% of patients preferred the digital diary for follow-ups, and there was no significant difference in ease of use compared to paper diaries.ConclusionDigital diaries are helpful in the clinical management of PD patients as they minimize recall bias and reduce data errors in appropriately selected patients. Our study suggests a broader adoption of digital health technologies in PD management. Still, additional research is necessary to improve the tools and assess long-term patient outcomes.
In the elderly population, Parkinson’s Disease (PD) is the second most common neurodegenerative disorder and is associated with morphological changes in the basal ganglia, especially the substantia nigra (SN). This study aimed to evaluate the volume and signal intensity (SI) of SN using Magnetic Resonance Imaging (MRI) to detect structural changes and investigate the relationship between the onset side and disease severity of PD. Clinical features and imaging data of 58 patients with PD were retrospectively analyzed from their medical records. Axial T2-weighted fluid-attenuated inversion recovery (FLAIR) sequences of 3 Tesla (T) MRIs were used for the measurements. The right and left SN volumes and SI measurements were calculated in duplicate by 2 blinded and qualified neuroradiologists. The side of disease onset, disease duration, levodopa equivalent daily dose, Movement Disorder Society-sponsored Unified Parkinson Disease Rating Scale (MDS-UPDRS III) motor score, and modified Hoehn and Yahr (H&Y) scale scores were recorded and compared with SN volume and SI measurements. No statistically significant difference was found between the disease onset side and contralateral SN volume or SI measurements (P > .05). Despite high inter- and intra-rater reliability rates, there was no significant difference in the volume and SI of the contralateral SN according to H&Y stages (P > .05). Furthermore, SN volume and SI measurements were not significantly correlated with disease duration and MDS-UPDRS III motor score (P > .05). SN volume and SI values measured using axial FLAIR 3T MRI are not correlated with the side of onset or disease severity in PD. New imaging methods are required to detect preclinical or early-stage PD.
Background/Objectives: Subthalamic nucleus deep brain stimulation (STN-DBS) is a standard treatment for motor complications in Parkinson’s disease (PD). Its impact on axial symptoms is still not fully understood. This study aimed to quantitatively evaluate the effect of frequency changes within the therapeutic window on postural control performances of individuals with PD who underwent bilateral STN-DBS. Methods: Postural control was assessed using Computerized Dynamic Posturography with randomized DBS frequency parameters, low (60 Hz), high (130 Hz), and very high (180 Hz), across six sensory organization test (SOT) conditions. Results: Twenty PD participants with a mean age of 61.2 ± 10.1 years were included. There were no differences in equilibrium scores of SOT conditions between 60, 130, and 180 Hz frequencies (p > 0.05), except the SOT6 score (p = 0.003), where 60 Hz showed better equilibrium performance in SOT6, indicating an advantage in postural control when visual cues are disturbed. Discussion: Low-frequency settings (60 Hz) in STN-DBS may benefit those who rely heavily on visual cues while ineffectively using somatosensory and vestibular inputs. Conclusions: A tailored approach to the DBS frequency setting could optimize postural stability and reduce fall risk in these patients. Future research is needed to explore these mechanisms to enhance therapeutic strategies.
Results: This case series study included 20 PD participants with STN-DBS, with a mean age of 61.2±10.1 years. There were no differences in equilibrium scores of SOT conditions between 60, 130, and 180 Hz frequencies (p> 0.05), except the SOT6 score (p= 0.003), where 60 Hz showed better equilibrium performance in SOT6, indicating an advantage in postural control when visual and somatosensory cues are disturbed, and vestibular cues are not.
Objectives:Cognitive impairment is a prevalent non-motor symptom of Parkinson's disease (PD), significantly impacting patient quality of life. The Clock Drawing Test (CDT) evaluates cognitive abilities, including planning, organization, and executive functions such as attention, memory, and visuospatial skills. This study aimed to determine the sensitivity of the CDT in diagnosing cognitive impairment in PD. Methods:We reviewed the records of 44 PD patients (16 female, 28 male) diagnosed with dementia (30 patients) or mild cognitive impairment (14 patients) between 2018 and 2022. These patients were compared to 106 visitors to the neurological outpatient clinic, serving as a control group. A separate researcher assessed the patients' CDT scores, maintaining confidentiality of all other patient data except age and education level. Results:Among the 44 PD patients, two with mild cognitive impairment were rated as normal, while all PD dementia cases were identified solely through the CDT. In the healthy control group, 72 out of 106 individuals reported no cognitive complaints, whereas 34 individuals (32.1%) reported cognitive complaints as assessed by a blind investigator. The CDT demonstrated a positive predictive value of 55.3% and a negative predictive value of 97.3%. Sensitivity was calculated at 95.5%, and specificity was 67.9%. Conclusion:The findings suggest that the CDT is sensitive in detecting cognitive impairment in PD patients with cognitive deficits. While the CDT serves as an effective rapid screening tool, high scores indicate the absence of cognitive impairment, but low scores alone are insufficient for a definitive diagnosis of dementia. Comprehensive neurological evaluation and detailed cognitive assessment remain essential for confirming dementia diagnoses.
Background: Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia. Mutations in the Ring Finger Protein 216 (RNF216) gene have been known to be associated with GHS therewithal RNF216 mutations have been detected in cases with Huntington-like disease, 4H syndrome (hypodontia, hypomyelination, ataxia and hypogonadotropic hypogonadism), and congenital hypogonadotropic hypogonadism. Case Presentation: Here we report a novel homozygous frameshift mutation in RNF216 gene c.1860_1861dupCT (p.Cys621SerfsTer56) in a patient with hypogonadotropic hypogonadism, ataxia, and cognitive decline diagnosed with GHS also co-occurrence of parkinsonism and dystonia which was not reported before. Conclusions: We report an extremely rare case of GHS. The core features of GHS are well defined, but genotype-phenotype correlations are still limited. To understand the pathophysiology of different phenotypes, the type and localization of novel mutations need to be defined, and the effect of these different variants on clinical features needs to be determined. Further studies should explain the factors of phenotypic variability present in GHS patients with RNF216 mutations.
Objective: The fact that non-motor symptoms such as pain in Parkinson’s disease (PD) are more associated with musculoskeletal diseases (MSD) suggests that there may be delays in diagnosis. The aim of this study was to review the first symptoms of PD, especially pain, while at the same time reviewing the medical specialists to whom patients first went and examining the effects of these parameters on time to diagnosis and treatment. Materials and Methods: Patients with PD were included. The patients were evaluated in terms of clinical features, initial complaints and onset time, presence and type of pain, the medical specialist they first applied to, and time to diagnosis. Results: Eighty-six patients were included (42 female, 44 male). The first complaints were bradykinesia, tremor, tremor and bradykinesia, shoulder pain, tremor and painful cramps. These complaints started 10.1±5.22 years previously, and the diagnosis of PD was made 8.56±4.87 years previously on average. The first specialist departments to which patients with these complaints applied were Neurology (n=34), Physical Therapy and Rehabilitation (n=34), Neurosurgery (n=10), and Orthopedics (n=8). The first admission to Neurology was 8.7±4.85 years previously. Pain complaints started 7.2±6.69 years before the first admission in 56 patients. Musculoskeletal pain was 86%, dystonic pain was 25%, central pain and neuropathic pain were 11% each in the group of patients who had experienced pain. Conclusion: PD can be confused with MSD due to findings such as pain and rigidity, which may cause a delay in diagnosis and treatment. This delay can be prevented if non-neurology specialists are provided with more detailed training about the disease, and if public awareness is raised about the signs and symptoms of PD.
Introduction:The aim of this study was to form the Turkish adaptation of the SCOPA-SleepScale to be used in evaluating sleep quality in individuals with Parkinson's disease and to test its psychometric properties. Method:Data for this methodological study was collected between May and December 2017 in the neurology outpatient clinic of a hospital through face to face interviews with patients with a diagnosis of Parkinson's disease. The sample of the study consisted of 105 patients of 18 years of age and above with no additional neurological diseases who volunteered for the study. The SCOPA Sleep Scale was translated into Turkish through translation and back translation, and expert views were taken to test content validity. The reliability analyses of the scale were performed using item- total score correlations, test-retest correlations, and internal consistency. Exploratory factor analyses were conducted for construct validity and the Pittsburgh Sleep Quality Index (PSQI) and Epworth Sleepiness Scale (ESS) were applied for criterion validity. The appropriateness of data for factor analysis was examined using the Kaiser-Meyer-Olkin (KMO) and Bartlett's tests. Results:The factor loads of the SCOPA Sleep Scale varied between 0.743 and 0.901, and the Turkish version of the scale exhibited a two factor structure in compliance with the original scale. The Cronbach`s alpha coefficient was found 0.907 for the nighttime sleep sub-dimension and 0.906 for the daytime sleepiness sub-dimension. In the test-retest evaluation, a correlation of 0.948 was obtained in the nighttime sleep sub-dimension of the scale and a correlation of 0.956 was obtainedin the daytime sleepiness sub-dimension of the scale. The nighttime sleep sub-dimension of the scale showed a positive correlation with PSQI, while the daytime sleepiness sub-dimension showed a positive correlation with ESS. Conclusion:The Turkish form of the SCOPA Sleep Scale is a valid and reliable tool to evaluate the sleep quality of individuals with Parkinson's disease.
Objective: Persistent pulmonary hypertension of the newborn (PPHN) is a serious clinical condition that developed through the persistence of high pulmonary vascular resistance during the transition period and results in severe morbidities and mortality. This study aims to determine the risk factors for developing PPHN and to evaluate the prognosis, morbidities, and mortality. Materials and Method: This retrospective study was conducted between January 2017 and January 2019. Hospital records of infants who needed neonatal intensive care were evaluated retrospectively in terms of etiological causes of PPHN, clinical prognosis of neonates, morbidities, and mortality rates. Results: A total of 29,650 infants were born during the 2-year study period, 920 of whom were admitted to a neonatal intensive care unit, of which 50 developed PPHN. Of the infants who developed PPHN, 66% were preterm and 52% were female. The most common etiology related to developing PPHN is congenital pneumonia (65%) in term infants and respiratory distress syndrome (100%) in preterm infants. The second most common etiology is perinatal asphyxia for both term and preterm infants. Morbidities such as patent ductus arteriosus, intraventricular hemorrhage, necrotizing enterocolitis, and bronchopulmonary dysplasia were higher in the preterm group, with mortality rates also being significantly higher in preterm infants. Conclusion: Persistent pulmonary hypertension of the newborn is a serious clinical condition that may result in high neonatal mortality even when appropriate cardiopulmonary support is given. Mortality and mortality-related morbidities are thought to be able to be decreased by defining the risk factors for developing PPHN.