منابع مشابه
Abbreviating the Finger Tapping Test.
The Finger Tapping Test (FTT) has a strong empirical base but its procedures are inconsistent and the test can be time-consuming. To simplify and abbreviate administration procedures, several potential abbreviated procedures were evaluated using a sample of 71 individuals presenting to a VA Hospital for neuropsychological evaluation. A short version using the mean score of Trials 3-5 for each h...
متن کاملHyperekplexia in neonates.
Hyperekplexia (startle disease) is a rare non-epileptic disorder characterised by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalised muscular rigidity, and nocturnal myoclonus. The genetic basis is a mutation usually of the arginine residue 271 leading to neuronal hyperexcitability by impairing glycinergic inhibition. Hyperekplexia i...
متن کاملNeonatal Hyperekplexia: A Case Report
Hyperekplexia is a rare non-epileptic disorder characterized by an exaggerated and persistent startle reaction to the unexpected tactile and acoustic stimuli. The disorder is occasionally associated with generalized muscular rigidity and has the clinical hallmark of positive nose tapping test.The disease is inherited in an autosomal dominant fashion. Recessively inherited and sporadic forms of...
متن کاملStartle responses in hereditary hyperekplexia.
BACKGROUND Patients with hereditary hyperekplexia have excessive startle responses that are accompanied by transient stiffness and also continuous stiffness in infancy. A point of mutation has been identified for the major form of hereditary hyperekplexia in the gene encoding the alpha 1 subunit of the glycine receptor. OBJECTIVE To measure startle reflexes and autonomic responses in the majo...
متن کاملSinus node paucity in hyperekplexia.
We report a newborn with hyperekplexia and uncontrolled tonic spasms which did not respond to intravenous phenobarbitone and phenytoin, and midazolam infusion. Serum biochemistry, electrocardiography, electroencephalography, lumbar puncture and neuroimaging were normal. Continuous cardiac monitoring revealed that tonic spasm episodes were accompanied by sinus node paucity and severe bradycardia...
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ژورنال
عنوان ژورنال: Indian Pediatrics
سال: 2018
ISSN: 0019-6061,0974-7559
DOI: 10.1007/s13312-018-1290-8