نتایج جستجو برای: neurodevelopmental disorder
تعداد نتایج: 603172 فیلتر نتایج به سال:
Abstract Some diseases are characterized by persistent deficits in brain activity. Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder. It appears early childhood and evolves throughout life needs to be detected accelerate the treatment recovery process. These may using medical imaging techniques. In this paper, we present machine learning algorithms allowing detect peoples with ASD...
Case presentation: A 5-year-old female with a history of neurodevelopmental delay, hypersomnolence, seizures, and feeding disturbance, presented complex movement disorder. Clinically, there was abnormal facial features, hypotonia, the patient mixed hyperkinetic disorder, consisting chorea, dystonia, myoclonus, hand stereotypies. The presence generalized interposed those movements, resembled “st...
OBJECTIVE The corpus callosum, the largest white matter tract in the brain, is a midline structure associated with the formation of the hippocampus, septum pellucidum, and cingulate cortex, which have been implicated in the pathogenesis of schizophrenia. Corpus callosum shape deformation, therefore, may reflect a midline neurodevelopmental abnormality. METHOD Corpus callosum area and shape we...
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high prevalence and impact on society. ASDs are characterized by deficits in both social behavior and cognitive function. There is a strong genetic basis underlying ASDs that is highly heterogeneous; however, multiple studies have highlighted the involvement of key processes, including neurogenesis, neurite growth, s...
Rett syndrome (RTT, MIM#312750) is a neurodevelopmental disorder that is classified as an autism spectrum disorder. Clinically, RTT is characterized by psychomotor regression with loss of volitional hand use and spoken language, the development of repetitive hand stereotypies, and gait impairment. The majority of people with RTT have mutations in Methyl-CpG-binding Protein 2 (MECP2), a transcri...
Objective To perform functional characterization of a potentially pathogenic KCNB1 variant identified by clinical exome sequencing of a proband with a neurodevelopmental disorder that included epilepsy and centrotemporal spikes on EEG. Methods Whole-exome sequencing identified the KCNB1 variant c.595A>T (p.Ile199Phe). Biochemical and electrophysiologic experiments were performed to determine ...
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