Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein +13 more
wiley +1 more source
Autism, the Integrations of 'Difference' and the Origins of Modern Human Behaviour [PDF]
It is proposed here that the archaeological evidence for the emergence of 'modern behaviour' (160,000-40,000 bp) can best be explained as the rise of cognitive variation within populations through social mechanisms for integrating 'different minds ...
Spikins, Penny
core +1 more source
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source
A duração da pausa silente difere entre palavras de classe aberta ou fechada?
Objetivo Verificar se o tempo médio das pausas silentes difere para a classe das palavras (aberta ou fechada) e se há diferença entre esse tempo para crianças em desenvolvimento típico de linguagem e crianças com distúrbio específico de linguagem (DEL ...
Paula Renata Pedott +3 more
doaj +1 more source
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel +8 more
wiley +1 more source
Language delay in the context of current scientific findings
The review study focuses on the topic of language delay (LD), which represents an early delay in language development. This early delay may be a symptom of certain neurodevelopmental disorders (autism spectrum disorders, developmental intellectual ...
Alžběta Zemánková
doaj +1 more source
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
THE STIMULATION OF LANGUAGE DEVELOPMENT IN CHILDREN WITH AUTIST SPECTRUM DISORDER [PDF]
The issue of language development of children with autism spectrum (TSA) is becoming more and more prevalent. We find that in practice parents’ complaint mostly about the language lack or about the presence of language disorders.
MAXIMCIUC Victoria, CENUȘA Ina
doaj
Academic skills in children with autism spectrum disorders with monolingual or bilingual experience
Background and aims The academic development of children with autism spectrum disorders is important to investigate as it can provide opportunities for higher education, independent living, and successful employment in adulthood.
Sandra B Vanegas
doaj +1 more source

