Profiles of Early Expressive Phonological Skills-Brazilian Portuguese (PEEPS-BP): a diagnostic accuracy study.

Purpose: To present the criterion validity, sensitivity, specificity, and cut-off scores for the Profiles of Early Expressive Phonological Skills Test - Brazilian Portuguese (PEEPS-BP) - Expanded List.

Methods: This was a quantitative cross-sectional psychometric study. The sample consisted of 30 children with no identified neurodevelopmental disorders aged 24 to 36 months.

Supplementing Best Care with Specialized Rehabilitation Treatment in Parkinson's Disease: A Retrospective Study by Different Expert Centers.

: This is a retrospective longitudinal study comparing 374 patients with Parkinson's disease (PD) who were treated in centers offering a specialized program of enhanced rehabilitation therapy in addition to expert outpatient care to 387 patients with PD, who only received expert outpatient care at movement disorders centers in Italy. : The data are from subjects recruited in the Parkinson's Outcome Project (POP) at six Italian centers that are part of a multicenter collaboration for care quality improvement (the Fresco Network). The effects were measured with a baseline and a follow-up clinical evaluation of the Timed-Up-and-Go test (TUG), Parkinson's Disease Questionnaire (PDQ-39), and Multidimensional Caregiver Strain Index (MCSI), the number of falls and hospitalizations for any cause.

Hyposmia correlates with axial signs and gait disorder in Parkinson's disease: an Italian Olfactory Identification Test study.

Background: Olfactory dysfunction is a non-motor symptom and an important biomarker of Parkinson's disease (PD) because of its high prevalence (> 90%). Whether hyposmia correlates with motor symptoms is unclear. In the present study, we aim to investigate the relationship between olfactory impairment with both motor and non-motor features and disease variables (disease duration, stage, and severity).

Content validity of the Profiles of Early Expressive Phonological Skills-Brazilian Portuguese (PEEPS-BP) - Expanded List.

Purpose: To carry out the cross-cultural adaptation of the Instrument Profiles of Early Expressive Phonological Skills- Brazilian Portuguese (PEEPS-BP) - Expanded list, performing content validation.

Methods: Cross-cultural, quantitative and cross- sectional adaptation study, considering psychometric criteria. A study was carried out on the list of 423 words from the Communicative Development Inventory - MacArthur - Words and Sentences, adapted to Brazilian Portuguese.

CSF neurochemical profile and cognitive changes in Parkinson's disease with mild cognitive impairment.

Pathophysiological substrate(s) and progression of Parkinson's disease (PD) with mild cognitive impairment (PD-MCI) are still matter of debate. Baseline cerebrospinal fluid (CSF) neurochemical profile and cognitive changes after 2 years were investigated in a retrospective series of PD-MCI (n = 48), cognitively normal PD (PD-CN, n = 40), prodromal Alzheimer's disease (MCI-AD, n = 25) and cognitively healthy individuals with other neurological diseases (OND, n = 44). CSF biomarkers reflecting amyloidosis (Aβ42/40 ratio, sAPPα, sAPPβ), tauopathy (p-tau), neurodegeneration (t-tau, NfL, p-NfH), synaptic damage (α-syn, neurogranin) and glial activation (sTREM2, YKL-40) were measured.

An Updated Overview of the Magnetic Resonance Imaging of Brain Iron in Movement Disorders.

Brain iron load is one of the most important neuropathological hallmarks in movement disorders. Specifically, the iron provides most of the paramagnetic metal signals in the brain and its accumulation seems to play a key role, although not completely explained, in the degeneration of the basal ganglia, as well as other brain structures. Moreover, iron distribution patterns have been implicated in depicting different movement disorders.

Segmental acquisition of Brazilian Portuguese: onset simple, complex and coda.

Purpose: To present and analyze the acquisition segmental curve of Brazilian Portuguese in simple and complex onset position and coda position.

Methods: 857 children with typical phonological acquisition participated in it, aged between 3:0 and 8:11, divided into age groups every 6 months. Participants were assessed using INFONO phonological assessment software.

PEG-J replacement for duodenal levodopa infusion in Parkinson's disease patients: a retrospective study.

Background: Reducing percutaneous endoscopic gastrostomies with jejunal extension tubes (PEG-J) related complications is vital to the long-term preservation of duodenal levodopa infusion (DLI) in advanced Parkinson's disease (APD). Here, we provide data on the frequency of complications for both the standard "pull" and the non-endoscopic, radiologic assisted, "push" replacement PEG-J techniques in APD.

Methods: We retrospectively identified all patients treated with DLI from October 2009 to January 2020 at the Movement Disorders Center.

Phonological acquisition of Brazilian Portuguese: Ages of customary production, acquisition and mastery.

Background: AIMS: To describe typical phonological development of Brazilian Portuguese (BP)-speaking children, considering the following parameters: age of customary production, acquisition and mastery.

Methods & Procedures: Data were collected from 857 children aged between 3 years and 8 years 11 months with typical language and speech development. The sample was grouped into 6-month age bands.

Botulinum Toxin for the Treatment of Hemifacial Spasm: An Update on Clinical Studies.

Unlabelled: Hemifacial spasm (HFS) is a movement disorder characterized by involuntary contractions of the facial muscles innervated by the seventh cranial nerve. Generally, it is associated with a poor quality of life due to social embarrassment and can lead to functional blindness. Moreover, it is a chronic condition, and spontaneous recovery is rare.

The Contribution of Small Vessel Disease to Neurodegeneration: Focus on Alzheimer's Disease, Parkinson's Disease and Multiple Sclerosis.

Brain small vessel disease (SVD) refers to a variety of structural and functional changes affecting small arteries and micro vessels, and manifesting as white matter changes, microbleeds and lacunar infarcts. Growing evidence indicates that SVD might play a significant role in the neurobiology of central nervous system (CNS) neurodegenerative disorders, namely Alzheimer's disease (AD) and Parkinson's disease (PD), and neuroinflammatory diseases, such as multiple sclerosis (MS). These disorders share different pathophysiological pathways and molecular mechanisms (i.

Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability.

Spinocerebellar ataxia 17 (SCA17) is a rare genetic cause of adult-onset ataxia caused by an abnormal expansion of the CAG/CAA sequence in the TATA-box Binding Protein (TBP) gene. A number of repeats higher than 49 are full penetrance-expanded. The range between 41 and 49 repeats is characterized by decreased penetrance, and it is usually referred to as "small.

Insights into the Pathophysiology of Psychiatric Symptoms in Central Nervous System Disorders: Implications for Early and Differential Diagnosis.

Different psychopathological manifestations, such as affective, psychotic, obsessive-compulsive symptoms, and impulse control disturbances, may occur in most central nervous system (CNS) disorders including neurodegenerative and neuroinflammatory diseases. Psychiatric symptoms often represent the clinical onset of such disorders, thus potentially leading to misdiagnosis, delay in treatment, and a worse outcome. In this review, psychiatric symptoms observed along the course of several neurological diseases, namely Alzheimer's disease, fronto-temporal dementia, Parkinson's disease, Huntington's disease, and multiple sclerosis, are discussed, as well as the involved brain circuits and molecular/synaptic alterations.

A/T/(N) Profile in Cerebrospinal Fluid of Parkinson's Disease with/without Cognitive Impairment and Dementia with Lewy Bodies.

Neuropathological investigations report that in synucleinopathies with dementia, namely Parkinson's disease (PD) with dementia (PDD) and dementia with Lewy bodies (DLB), the histopathological hallmarks of Alzheimer's Disease (AD), in particular amyloid plaques, are frequently observed. In this study, we investigated the cerebrospinal fluid (CSF) AD biomarkers in different clinical phenotypes of synucleinopathies. CSF Aβ42/Aβ40 ratio, phosphorylated tau and total tau were measured as markers of amyloidosis (A), tauopathy (T) and neurodegeneration (N) respectively, in 98 PD (48 with mild cognitive impairment, PD-MCI; 50 cognitively unimpaired, PD-nMCI), 14 PDD and 15 DLB patients, and 48 neurological controls (CTRL).

CSF and Blood Biomarkers in Neuroinflammatory and Neurodegenerative Diseases: Implications for Treatment.

Neuroinflammatory and neurodegenerative diseases are characterized by the interplay of a number of molecular pathways that can be assessed through biofluids, especially cerebrospinal fluid and blood. Accordingly, the definition and classification of these disorders will move from clinical and pathological to biological criteria. The consequences of this biomarker-based diagnostic and prognostic approach are highly relevant to the field of drug development.

Unraveling Pathophysiological Mechanisms of Parkinson's Disease: Contribution of CSF Biomarkers.

Diagnosis of Parkinson's disease (PD) relies on clinical history and physical examination, but misdiagnosis is common in early stages. Identification of biomarkers for PD may allow for early and more precise diagnosis and provide information about prognosis. Developments in analytical chemistry allow for the detection of a large number of molecules in cerebrospinal fluid (CSF), which are known to be associated with the pathogenesis of PD.

Changes of olfactory tract in Parkinson's disease: a DTI tractography study.

Purpose: Impaired olfactory function is one of the main features of Parkinson's disease. However, how peripheral olfactory structures are involved remains unclear. Using diffusion tensor imaging fiber tracking, we investigated for MRI microstructural changes in the parkinsonian peripheral olfactory system and particularly the olfactory tract, in order to seek a better understanding of the structural alternations underlying hyposmia in Parkinson's disease.

Impulse Control Disorders and Levodopa-Induced Dyskinesias in Parkinson's Disease: Pulsatile versus Continuous Dopaminergic Stimulation.

Background: Dopaminergic medications in Parkinson's disease (PD) are usually associated with the development of both levodopa-induced dyskinesias (LID) and impulse control and repetitive behavior disorders (ICRB).

Objective: To assess the prevalence and the severity of ICRB in a cohort of moderate and advanced PD patients and to investigate the potential interplay between ICRB, LID and dopaminergic therapies.

Methods: 117 PD patients were consecutively recruited.

T2*-weighted MRI values correlate with motor and cognitive dysfunction in Parkinson's disease.

Brain iron load is one of the main neuropathologic hallmarks of Parkinson's disease (PD). Previous studies indicated that iron in the substantia nigra (SN) is related to disease duration and motor impairment. We explore, through a cross-sectional study, the association between brain iron distribution, evaluated by T2*-weighted magnetic resonance imaging (T2*), and clinical features in a cohort of patients with PD.

Validation of the Hemifacial Spasm Grading Scale: a clinical tool for hemifacial spasm.

Background: To create an objective rating tool for hemifacial spasm (HFS) and validate it on a cohort of patients.

Methods: A panel of movement disorders specialists elaborated, through the Delphi method, the Hemifacial Spasm Grading Scale (HSGS). The validity of the scale was tested in a longitudinal, prospective observational study, with standardized video recording protocol before and after botulinum neurotoxin (BoNT) treatment.

Interatrial Shunting Through an Asymptomatic Patent Foramen Ovale in Thoracic Surgery.

Background: Patent foramen ovale (PFO) is present in as many as 25% of the general population and is considered an irrelevant condition in healthy subjects. Here, we sought to determine an association between an asymptomatic PFO at baseline and postoperative short-term adverse events in patients undergoing major pulmonary resection for lung cancer. In addition, we evaluated for the rate of PFO after pulmonary resections.

Levodopa-responsive breathing discomfort in Parkinson's disease patients.

In Parkinson's disease (PD), respiratory disturbances have been reported and the effect of levodopa on respiratory function remains controversial. The objective of this study was to evaluate pulmonary function utilizing spirometric and subjective evaluations in mild to moderated PD. Thirty-four consecutive sporadic PD patients (Hoehn and Yahr scale: 1-3) were prospectively evaluated using clinimetric scales, spirometry and modified Borg scale, all in off- and on-conditions.

Ultrasound analysis of tongue contour for the sound [j] in adults and children.

Purpose: Analyze and compare the mean tongue contours and articulatory gestures in the production of the sound [j] in adults and children with typical and atypical speech development. The children with atypical development presented speech sound disorders.

Methods: The diagnosis was determined by speech assessments.

Differential role of CSF fatty acid binding protein 3, α-synuclein, and Alzheimer's disease core biomarkers in Lewy body disorders and Alzheimer's dementia.

Background: Neurodegenerative disorders such as Alzheimer's disease (AD), Parkinson's disease with dementia (PDD), and dementia with Lewy bodies (DLB) share clinical and molecular features. Cerebrospinal fluid (CSF) biomarkers may help the characterization of these diseases, improving the differential diagnosis. We evaluated the diagnostic performance of five CSF biomarkers across a well-characterized cohort of patients diagnosed with AD, DLB, PDD, and Parkinson's disease (PD).