Changes in the early communicative behaviors of young children with significant cognitive and motor developmental delays in a two-year span.

Introduction: This study examines longitudinal changes in communicative behavior of young children with significant cognitive and motor developmental delays (SDD) and determines their individual communicative trajectories. A second focus of this study is the relation of changes in communicative behavior with motor skills.

Methods: Data consists of codes resulting from a self-developed coding scheme used on observations of 23 children in three different settings and responses on a questionnaire.

Describing the communicative profiles of young children with a significant cognitive and motor developmental delay.

The communicative behavior of young children with significant cognitive and motor developmental delays is generally considered to be limited, idiosyncratic and non-intentional. At present, changes between and within children over time regarding their communicative behavior are hard to detect. This article describes an exploratory observational study that draws on data from the first data point of 38 children who are participating in a longitudinal project on the developmental trajectories of children with significant cognitive and motor developmental delays.

Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up: Quantitative MRI and Clinical Outcome Measures.

Background And Objectives: Limb-girdle muscular dystrophy autosomal recessive type 12 (LGMDR12) is a rare hereditary muscular dystrophy for which outcome measures are currently lacking. We evaluated quantitative MRI and clinical outcome measures to track disease progression to determine which tests could be useful in future clinical trials to evaluate potential therapies.

Methods: We prospectively measured the following outcome measures in all participants at baseline and after 1 and 2 years: 6-minute walk distance (6MWD), 10-meter walk test (10MWT), the Medical Research Council (MRC) sum scores, Biodex isometric dynamometry, serum creatine kinase, and 6-point Dixon MRI of the thighs.

Unraveling the Molecular Basis of the Dystrophic Process in Limb-Girdle Muscular Dystrophy LGMD-R12 by Differential Gene Expression Profiles in Diseased and Healthy Muscles.

Limb-girdle muscular dystrophy R12 (LGMD-R12) is caused by two mutations in anoctamin-5 (). Our aim was to identify genes and pathways that underlie LGMD-R12 and explain differences in the molecular predisposition and susceptibility between three thigh muscles that are severely (semimembranosus), moderately (vastus lateralis) or mildly (rectus femoris) affected in this disease. We performed transcriptomics on these three muscles in 16 male LGMD-R12 patients and 15 age-matched male controls.

Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.

Late-onset Pompe disease (LOPD) is a rare, progressive disorder characterized by limb-girdle muscle weakness and/or respiratory insufficiency, caused by acid alpha-glucosidase () gene mutations and treated with enzyme replacement therapy. We studied isometric muscle strength in eight muscle groups bilaterally using a Biodex dynamometer, as well as the Medical Research Council sum score (MRC-SS), hand grip strength, 6 min walk distance (6MWD), 10 m walk test (10MWT) and timed up-and-go test (TUG) in 12 adult, ambulatory, treated LOPD patients and 12 age-/gender-matched healthy controls, every 6 months for 2 years. The mean isometric muscle strength showed a significant decline in right and left knee extensors at 12 months in controls ( < 0.

Lessons learned: A critical reflection on child- and contextual variables related to the development of children with a significant cognitive and motor developmental delay.

Background: The scientific study of young children with a significant cognitive and motor developmental delay is challenging due to the children's complex disabilities and high demands on family life and professional support. We aim to critically reflect on the measurement and analysis of child- and contextual variables within an ongoing research project on these children's developmental trajectories.

Method: The OJKO-project tracked the development of a sample of children (n = 45) between the age of 6 months and 4 years with a significant cognitive and motor developmental delay, in Belgium and the Netherlands.

In search of a novel way to analyze early communicative behavior.

The aim of this study was to develop a coding scheme that enables researchers and practitioners to conduct a detailed analysis of the communicative behavior of young children with significant cognitive and motor developmental delays. Currently, there is a paucity of methods to do conduct such an analysis. For the study, video observations of three different scenarios from 38 children with significant cognitive and motor developmental delays aged between 12 and 54 months, were used.

Intracerebroventricular delivery of vascular endothelial growth factor in patients with amyotrophic lateral sclerosis, a phase I study.

We studied the feasibility, safety, tolerability and pharmacokinetics of intracerebroventricular delivery of recombinant human vascular endothelial growth factor in patients with amyotrophic lateral sclerosis. In this phase I study in patients with amyotrophic lateral sclerosis, the study drug was delivered using an implantable programmable pump connected to a catheter inserted in the frontal horn of the lateral cerebral ventricle. A first cohort received open label vascular endothelial growth factor (0.

Changes in the social-emotional functioning of young children with a significant cognitive and motor developmental delay across a two-year period.

Children with a significant cognitive and motor developmental delay (SDD) are vulnerable for the development of (future) behavioral and mental health problems. To support children within this target group, knowledge on their social-emotional development is necessary. Therefore, in this paper, an explorative assessment of the changes in the social-emotional functioning of children with SDD over a two-year period was done.

The social-emotional functioning of young children with a significant cognitive and motor developmental delay.

Children with a significant cognitive and motor developmental delay (SDD) are vulnerable for the development of (future) behavioral and mental health problems. This paper aims to assess the social-emotional functioning of these children, both globally and in various domains. Semi-structured interviews with one or more primary caregiver(s) of 45 children were conducted and analyzed on 13 domains of social-emotional functioning, according to the Scale for Emotional Development - Revised (SED-R).

Communicative abilities in young children with a significant cognitive and motor developmental delay.

Background: Children with a significant cognitive and motor developmental delay are pre-symbolic communicators. The primary aim of this study was to reveal the variability within the communicative functioning of this group of children in terms of communication level, the reasons to communicate and behavioural expressions.

Methods: Twenty-six children between 14 and 58 months with a significant cognitive and motor developmental delay were recruited.

Beclomethasone dipropionate in microscopic colitis: Results of an exploratory open-label multicentre study (COLCO).

Background: Budesonide has been proven to be an effective treatment for microscopic colitis (MC). However, the two current commercially available preparations are released in the ileum. Beclomethasone dipropionate (Clipper®) is a synthetic corticosteroid with topical colonic release.

Prognostic value of clinical and electrodiagnostic parameters at time of diagnosis in patients with amyotrophic lateral sclerosis.

Objective: To assess the added prognostic value of the aggregated clinical and electrodiagnostic data, which define a given diagnostic category according to the Awaji or revised El Escorial criteria at time of diagnosis in patients with amyotrophic lateral sclerosis (ALS).

Methods: Clinical signs and electrodiagnostic test results were collected at time of diagnosis in 396 patients with ALS between January 2009 and January 2016. Significant predictors of prognosis were identified using a univariate model, and later combined in a multivariate Cox regression model.

Neurofilament markers for ALS correlate with extent of upper and lower motor neuron disease.

Objective: To determine the diagnostic performance and prognostic value of phosphorylated neurofilament heavy chain (pNfH) and neurofilament light chain (NfL) in CSF as possible biomarkers for amyotrophic lateral sclerosis (ALS) at the diagnostic phase.

Methods: We measured CSF pNfH and NfL concentrations in 220 patients with ALS, 316 neurologic disease controls (DC), and 50 genuine disease mimics (DM) to determine and assess the accuracy of the diagnostic cutoff value for pNfH and NfL and to correlate with other clinical parameters.

Results: pNfH was most specific for motor neuron disease (specificity 88.