Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Crianças com alteração de linguagem ou aprendizagem e audição normal necessitam uma avaliação foniátrica para analisar os vários aspectos da comunicação e do desenvolvimento visando o diagnóstico diferencial e as indicações terapêuticas.
Mariana Lopes Fávero +5 more
doaj
Penyesuaian Diri Anak Luar Biasa (Studi Kasus Ade Irawan, Juara Pianis Tunanetra Indonesia) [PDF]
Adjustment is the ability of individuals to associate with them self and environment. Children have experience growth and development in her both physically and mentally, covers an area ofmotor/biological, cognitive, and emotional development/affective ...
Aulia, F. (Fitri)
core
The role of language, social cognition, and social skill in the functional social outcomes of young adolescents with and without a history of SLI [PDF]
Social skill and language are known to relate, not least in the example of those with specific language impairment (SLI). However, most of the research examining this trend has been conducted on young primary school age children and the nature of the ...
Botting, N., Conti-Ramsden, G.
core +1 more source
Association of Corticospinal Tract Asymmetry With Ambulatory Ability After Intracerebral Hemorrhage
ABSTRACT Background Ambulatory ability after intracerebral hemorrhage (ICH) is important to patients. We tested whether asymmetry between ipsi‐ and contra‐lesional corticospinal tracts (CSTs) assessed by diffusion tensor imaging (DTI) is associated with post‐ICH ambulation.
Yasmin N. Aziz +25 more
wiley +1 more source
Language development and disorders: Possible genes and environment interactions
Language development requires both basic cognitive mechanisms for learning language and a rich social context from which learning takes off. Disruptions in learning mechanisms, processing abilities, and/or social interactions increase the risks associated with social exclusion or developmental delays.
Onnis L, Truzzi A, Ma X
openaire +4 more sources
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
Parent Interaction Between an Infant with a Cochlear Implant and Additional Disabilities [PDF]
Pediatric hearing loss has many spoken language learning issues that can impact parent-infant interaction. Moreover, additional disabilities are likely to increase stress, which could have cascading effects on communication.
Southern, Lillian
core +1 more source
Lessons Learned From a Delayed‐Start Trial of Modafinil for Freezing of Gait in Parkinson's Disease
ABSTRACT Objective Freezing of gait (FOG) in people with Parkinson's disease (PwPD) is debilitating and has limited treatments. Modafinil modulates beta/gamma band activity in the pedunculopontine nucleus (PPN), like PPN deep brain stimulation. We therefore tested the hypothesis that Modafinil would improve FOG in PwPD.
Tuhin Virmani +8 more
wiley +1 more source
Editorial: Socio-Emotional and Educational Variables in Developmental Language Disorder (DLD)
Eva Aguilar-Mediavilla +4 more
doaj +1 more source

