Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in Italy.

Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a cohort of Italian CDM and ChDM and to assess their association with motor and respiratory function and disease-specific cognitive and behavioral assessments. This was an observational multicenter study.

Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?

There has recently been some concern on possible cognitive impairment in patients with Spinal Muscular Atrophy (SMA). The aim of this study was to assess cognitive profiles in type II and III SMA with a focus on individual indexes and possible correlations with motor function. 57 type II and III individuals, aged 3.

The upper extremity functional index (UEFI): Italian validation in patients with Facioscapulohumeral muscular dystrophy.

Purpose: The aim of this study was to adapt the Upper Extremity Functional Index (UEFI) to an Italian population affected by Facioscapulohumeral muscular dystrophy (FSHD) by translating and validating this instrument in an Italian cohort.

Materials And Methods: Five Italian FSHD patients were interviewed regarding the form and content of the translated instrument. Subsequently, fifty-two patients were recruited for the validation purpose by serially completing the UEFI-IT and a battery of clinical assessments and questionnaires.

Caregivers' Expectations on Possible Functional Changes following Disease-Modifying Treatment in Type II and III Spinal Muscular Atrophy: A Comparative Study.

The primary aim of this study was to explore current caregivers' expectations on possible functional changes following treatment in comparison to data obtained in the pre-pharmacological era. A questionnaire, previously used in 2016, was administered to caregivers of type II and III SMA patients of age between 3 and 71 years, and to patients over the age of 13 years. The questionnaire focuses on (1) caregivers and patients expectations, (2) meaningfulness of the changes observed on the functional motor scales, and (3) their willingness to be enrolled in a clinical trial.

The facioscapulohumeral muscular dystrophy - health index: Italian validation of a disease-specific measure of symptomatic burden.

Purpose: The aim of this study was to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) to an Italian population affected by FSHD by translating, validating, and testing this instrument in an Italian cohort.

Materials And Methods: Italian FSHD patients were interviewed regarding the form and content of the translated instrument. Subsequently, forty FSHD patients were recruited to test the reliability (Intraclass Correlation Coefficient, ICC for test-retest; and Cronbach's Alpha for Internal consistency), known groups (Mann-Whitney U test and Area Under the Curve, AUC) and concurrent validity (Pearson's and Spearman's Rank Correlation Coefficient) of the instrument by serially completing the FSHD-HI and an extensive set of tests measuring the neuromotor, psychological and cognitive functions, and perceived quality of life (QoL) aspects.

Equating norms between the ALS Cognitive Behavioral Screen (ALS-CBS™) and the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) in non-demented ALS patients.

Background: The present study aimed at deriving equating norms to estimate scores on the Edinburgh Cognitive and Behavioural ALS Screen (ECAS) based on those on the ALS Cognitive Behavioral Screen (ALS-CBS™) in an Italian cohort of non-demented ALS patients.

Methods: ALS-CBS™ and ECAS scores of 293 ALS patients without frontotemporal dementia were retrospectively retrieved. Concurrent validity of the ALS-CBS™ towards the ECAS was tested by covarying for demographics, disease duration and severity, presence of C9orf72 hexanucleotide repeat expansion and behavioural features.

Standardization of the Italian ALS-CBS™ Caregiver Behavioral Questionnaire.

Background: The present investigation aimed at testing the psychometrics and diagnostics of the Italian version of the Caregiver Behavioral Questionnaire (CBQ) from the ALS Cognitive Behavioral Screen (ALS-CBS™), as well as its case-control discrimination, in a cohort of non-demented patients with ALS.

Methods: The caregivers of = 265 non-demented patients with ALS and = 99 healthy controls (HCs) were administered the CBQ and the Edinburgh Cognitive and Behavioural ALS Screen-Carer Interview (ECAS-CI). For = 98 patients, an in-depth behavioural/psychopathological assessment the Frontal Behavioural Inventory (FBI), the Dimensional Apathy Scale (DAS), the State and Trait Anxiety Inventory-Form Y (STAI-Y), and the Beck Depression Inventory (BDI) was also available.

Clinimetrics of the cognitive section of the Italian ALS Cognitive Behavioral Screen (ALS-CBS™).

Background: The present study aimed at (1) providing further validity and reliability evidence for the Italian version of the cognitive section of the ALS Cognitive Behavioral Screen (ALS-CBS™) and (2) testing its diagnostics within an Italian ALS cohort, as well as at (3) exploring its capability to discriminate patients from healthy controls (HCs).

Methods: N = 293 non-demented ALS patients were administered the cognitive sections of the ALS-CBS™ and Edinburgh Cognitive and Behavioural ALS Screen (ECAS). N = 96 HCs demographically matched with N = 96 patients were also administered the cognitive section of the ALS-CBS™.

Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center.

Introduction: Respiratory insufficiency is one of the main causes of death in myotonic dystrophy type 1 (DM1). Although there is general consensus that these patients have a restrictive ventilatory pattern, hypoventilation, chronic hypercapnia, and sleep disturbances, the prevalence of respiratory disease and indication for the effects of noninvasive ventilation (NIV) need to be further explored.

Objectives: To describe respiratory function and need for NIV at baseline and over time in a cohort of adult patients with DM1.

Wheelchair hockey improves quality of life in people with neuromuscular disease.

Background: Participation in sports is known to have positive effects on people's health and psychosocial well-being. Recently, physical activity implications for people with disabilities have been explored, showing promising results on quality of life and self-concept. However, few studies have specifically investigated the effects of participation in adaptive sports on quality of life in patients with neuromuscular disease.

A preliminary comparison between ECAS and ALS-CBS in classifying cognitive-behavioural phenotypes in a cohort of non-demented amyotrophic lateral sclerosis patients.

To define the presence and type of frontotemporal dysfunction in amyotrophic lateral sclerosis (ALS), different screening tools have been created. Currently, the most used screening tests are the Edinburgh cognitive and behavioural ALS screen (ECAS) and the ALS cognitive behavioural screen (ALS-CBS). The objective of this study was to compare the ability of ECAS and ALS-CBS in classifying non-demented ALS patients according to Strong criteria.

Management of respiratory complications and rehabilitation in individuals with muscular dystrophies: 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Milan, January 25-26, 2019).

Respiratory complications are common in the patient with muscular dystrophy. The periodic clinical and instrumental respiratory evaluation is extremely important. Despite the presence in the literature of updated guidelines, patient associations often report lack of knowledge of these pathologies, particularly in peripheral hospitals.

The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure.

Patient report outcome measures in Spinal Muscular Atrophy (SMA) represent a potential complement to observer rated scales which can be used to better understand treatment response. We developed, translated and validated an Italian version of the Spinal Muscular Atrophy Health Index (SMAHI), a disease-specific, patient reported outcome measure questionnaire, designed to estimate the patients' perception of disease burden. Test-retest reliability was assessed in 37 patients (16 children aged 12-17 and 21 adults) and was excellent in both cohorts.

12-Month progression of motor and functional outcomes in congenital myotonic dystrophy.

Background: We aim to describe 12-mo functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM).

Methods: CDM participants performed the 6 Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength, and Lip Force at baseline and 12-mo visits. Parents completed the Vineland Adaptive Behavior Scale.

Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care.

Nusinsersen is now available in Italy for all SMA types. We describe the experience with intrathecal treatment with nusinersen in 50 patients with SMA at the NEMO Center (NEuroMuscular Omniservice Clinical Center) in Milan, a neuromuscular patient-centered clinic hosted within Niguarda Hospital, a National Public General Hospital. Our results indicate that the pathway of care described outweighs the burden due to the repeated intrathecal injections.

Prevalence of disc cupping in non-glaucomatous eyes.

This study assessed optic disc size and cupping, using a commercially available ophthalmoscope, in order to show norms of these values for clinical practice. Subjects were office-workers referred from their respective workplaces for a routine medical examination, which included eye examination. The optic disc size was classified as small, medium or large, for having a diameter < 1.

Level of agreement among Latin American glaucoma subspecialists on the diagnosis and treatment of glaucoma: results of an online survey.

Purpose: The aim of this research was to assess the level of agreement among glaucoma experts in Latin America on key practices related to treatment and diagnosis of glaucoma.

Methods: An online questionnaire was sent to a multinational panel of glaucoma experts. The questionnaire contained 107 statements on the medical treatment (Part 1) and diagnosis (Part 2) of glaucoma, and was developed in Spanish and translated into English.

[Comparative study of the effects of two anti-glaucomatous drugs on the corneal thickness in rabbits with corneal autografts].

Purpose: To determine the central corneal thickness after administration of the anti-glaucomatous medications latanoprost 0.005% or dorzolamide 2%, as assessed in rabbits which have had total corneal thickness autografts.

Methods: A bilateral total corneal thickness autograft was performed in ten rabbits.

A 6-week, multicenter, randomized, double-masked, parallel-group study comparing travoprost 0.004% to latanoprost 0.005% followed by 6-week, open-label treatment with travoprost 0.004%.

Objective: The aim of this study was to compare the tolerability and efficacy of once-daily travoprost 0.004% versus latanoprost 0.005% for 6 weeks followed by 6 weeks of once-daily travoprost 0.

[Perimetric changes after surgery in advanced glaucoma].

Purpose: To determine the perimetric evolution in patients with advanced glaucomatous damage after glaucoma surgery, trabeculectomy or phacotrabeculectomy between 1996 and 2001.

Material And Methods: A retrospective review of the charts of 1,539 patients was performed. Mean follow-up was 23.

Deep sclerectomy with a collagen implant using the excimer laser.

We describe a new technique of nonpenetrating glaucoma surgery that uses the excimer laser to reduce the risk of perforating the trabeculo-Descemet's membrane. With this technique, the ablation is precise and homogeneous. A collagen device is sutured over the scleral bed to create an outflow pathway for aqueous humor drainage.