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Journal of child neurology Journal

Papers
The object of this study was to investigate the epidemiologic pattern of autism spectrum disorder in Chinese children. An autism spectrum disorder registry has been established in Hong Kong since 1986 by collecting data in a single center (the only university-affiliated child ass...
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This study describes the relationship between parenting stress and behavior in children with Joubert syndrome, a rare genetic neurodevelopmental disorder. Parents (N = 43) reported severely impaired child adaptive behaviors. Most children did not show maladaptive behaviors, but a...
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An 8-year-old girl complained of decreased hearing and difficulty hearing from her right ear while on the telephone. Pure-tone and speech audiometry, immittance (tympanometry, acoustic reflex thresholds), auditory brainstem response, and transient click-evoked otoacoustic emissio...
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Neurofibromatosis 1 is the most common neurocutaneous disease. Neurologic manifestations are mainly represented by tumors such as optic gliomas, focal areas of high T2-weighted signal known as unidentified bright objects, and mental retardation or learning disabilities. The preva...
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Intractable epilepsies pose a therapeutic challenge. Precise localization of the epileptic focus is imperative before planning surgical intervention. Functional imaging is an important component of presurgical work-up. Positron emission tomography is unavailable in developing cou...
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Mutations in the conserved telomere maintenance component 1 (CTC1) gene were recently described in Coats plus syndrome and in cerebroretinal microangiopathy with calcifications and cysts. Norrie disease protein (NDP) gene was found mutated in Norrie disease, in Familial Exudative...
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Studies of executive function and its relationship with brain T2-weighted hyperintensities in children with neurofibromatosis type 1 (NF1) have yielded inconsistent results. We examined 16 children with NF1 aged 8 to 15 years, of normal intelligence, and compared their findings t...
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Meralgia paresthetica is a mononeuropathy affecting the lateral femoral cutaneous nerve that is extremely rare in children. Two adolescent females, aged 11 and 13 years, presented due to tingling and pain on the side of the thigh of 2 to 3 weeks duration. The general examination ...
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The apnea test is recommended for the diagnosis of brain death. There are several reasons this test should be reconsidered. Confounding factors for performing the test are vaguely and poorly specified. The following 2 confounders are usually present and not considered: potentiall...
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AIM:Hypoxic-ischemic encephalopathy is associated with damage to deep gray matter; however, white matter involvement has become recognized. This study explored differences between patients and clinical controls on diffusion tensor imaging, and relationships between diffusion tens...
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Congenital myasthenic syndromes are a genetically and phenotypically heterogeneous group of hereditary disorders affecting neuromuscular junction. Mutations in the gene encoding choline acetyltransferase cause presynaptic defects. The missense mutation I336T has been identified i...
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Infantile spasm is an age-dependent epileptic-encephalopathy syndrome. Cardiac autonomic function is frequently altered in epilepsy. In this study, we examined heart rate variability in patients with infantile spasm before and after treatment. Nineteen patients with infantile spa...
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Rett syndrome was first described in 1966 by Dr Andreas Rett, who reported in German his findings in 22 patients. Recognition of the syndrome grew slowly until 1983, when a series of 35 patients from several countries was reported in English. By 1987, the number of known cases ha...
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We sought to determine whether smart-tablet-based neurofeedback could improve executive function—including attention, working memory, and self-regulation—in children with attention problems. Forty children (10-12 years old) with attention problems, as determined by ratings on the...
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There has been considerable recent progress in understanding mechanisms by which gene mutations cause degeneration of motoneurons and peripheral nerves. Novel therapies inspired by these insights have begun to yield promising results in mouse models of these genetic diseases. Amo...
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The objective of this study was to evaluate to what extent (1) the characteristics of localization, distribution, and size of echodense and echolucent abnormalities enable individuals to be designated as having either periventricular hemorrhagic infarction or periventricular leuk...
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Multiple etiologies should be considered in the differential diagnosis of immunocompromised patients with non-central nervous system cancer and viral infections who develop mutism. Acute cerebellitis, caused by infections or by neurotoxicity resulting from chemotherapy; paraneopl...
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This diagnostic accuracy study compared the accuracy of seizure detection by amplitude-integrated electroencephalography with the criterion standard conventional video EEG in term and near-term infants at risk of seizures. Simultaneous recording of amplitude-integrated EEG (2-cha...
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Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. There are 2 syndromes that are on the severe end of this spectrum. The classic severe form, Dravet syndrome, is an epileptic encephalopathy of childhood, causing cognitive decline as well as intractable seizures....
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This study aimed to describe children with moyamoya disease from an international multicenter stroke database, and explore risk factors for stroke recurrence. We reviewed data of children >28-days old with moyamoya disease enrolled in the International Pediatric Stroke Study from...
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