Journal of Child Neurology

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Screening for "Prelysosomal Disorders": Carbohydrate-Deficient Glycoprotein Syndromes
Journal of Child Neurology - Tập 14 Số 1_suppl - Trang S16-S22 - 1999
Marc C. Patterson
Physicians have become accustomed to thinking of certain inborn errors of metabolism (eg, lysosomal, peroxisomal, and mitochondrial diseases) as being associated with specific subcellular organelles. In recent years, a family of disorders of N-glycosylation has been recognized, in which the metabolic defect is expressed in the cytosol, endoplasmic reticulum, and Golgi apparatus. These cou...... hiện toàn bộ
Association of Duchenne Muscular Dystrophy With Autism Spectrum Disorder
Journal of Child Neurology - Tập 20 Số 10 - Trang 790-795 - 2005
Joyce Y. Wu, Karl Kuban, Elizabeth N. Allred, Frederic Shapiro, Basil T. Darras
We hypothesize that Duchenne muscular dystrophy and autism spectrum disorder/pervasive developmental disorder co-occur with a greater than random frequency. In this study, we set out to reject the hypothesis that Duchenne muscular dystrophy and autism spectrum disorder/pervasive developmental disorder co-occur no more often than expected by chance. Two index cases and six additional boys ...... hiện toàn bộ
Pediatric Restless Legs Syndrome
Journal of Child Neurology - Tập 26 Số 11 - Trang 1365-1376 - 2011
Daniel L. Picchietti, Robert Arbuckle, Linda Abetz, Jeffrey S. Durmer, Anna Ivanenko, Judith Owens, Jens Croenlein, Richard P. Allen, Arthur S. Walters
The specific aims of this study were to collect and analyze detailed symptom descriptions from patients with pediatric restless legs syndrome, ages 6 to 17 years, as well as assess symptom impact and the usefulness of drawings. Trained qualitative interviewers conducted face-to-face audio-recorded interviews of children and adolescents who met criteria for definite restless legs syndrome....... hiện toàn bộ
Pelizaeus-Merzbacher Disease: Clinical and Nosological Study
Journal of Child Neurology - Tập 1 Số 3 - Trang 233-239 - 1986
J Boulloche, J Aićardi
Pelizaeus-Merzbacher disease can be diagnosed on genetic and clinical criteria. These include: (1) involvement of several males in a lineage in a manner consistent with X-linked recessive inheritance; (2) early nystagmoid movements; (3) precocious psychomotor deterioration; (4) progressive pyramidal, dystonic, and cerebellar signs. We present seven cases from three families and review 148...... hiện toàn bộ
Psychogenic Seizures in Children: Long-Term Analysis of 43 Cases
Journal of Child Neurology - Tập 9 Số 4 - Trang 404-407 - 1994
Marcelo E. Lancman, Jorge J. Asconapé, Susan Graves, Patricia Gibson
Forty-three patients exhibiting psychogenic seizures with onset before the age of 16 years were studied. All patients underwent intensive electroencephalography and video-electroencephalography monitoring. Thirty-two were female and 11 male. Mean age of the population at seizure onset was 12.4 years (range, 5 to 16 years). Twenty-one patients (48.8%) were taking anticonvulsants. Neurologi...... hiện toàn bộ
Memantine như liệu pháp bổ trợ cho trẻ em được chẩn đoán rối loạn phổ tự kỷ: Một quan sát về phản ứng lâm sàng ban đầu và khả năng dung nạp khi duy trì Dịch bởi AI
Journal of Child Neurology - Tập 22 Số 5 - Trang 574-579 - 2007
Michael Chez, Quinn Burton, Timothy Dowling, Mina Chang, Pavan Khanna, Christopher M. Kramer
Rối loạn tự kỷ và Rối loạn phát triển lan tỏa không xác định khác là những vấn đề phát triển phổ biến thường được các bác sĩ thần kinh nhi theo dõi. Hiện tại chưa có biện pháp chữa trị nào cho những tình trạng này, đây là những tình trạng kéo dài suốt đời và gây ảnh hưởng tiêu cực đến các lĩnh vực cốt lõi trong hành vi của con người như ngôn ngữ, tương tác xã hội và nhận thức xã hội. Nguy...... hiện toàn bộ
#rối loạn tự kỷ #memantine #liệu pháp bổ trợ #hành vi xã hội #chức năng ngôn ngữ
Ictal Single Photon Emission Computed Tomography in Absence Seizures: Apparent Implication of Different Neuronal Mechanisms
Journal of Child Neurology - Tập 16 Số 5 - Trang 339-344 - 2001
Paola Iannetti, Alberto Spalice, Francesca De Luca, Sergio Boemi, Anna Festa, C.L. Maini
Absence seizures represent a complex group of epilepsy, characterized by lapse of consciousness with staring. Bilateral, synchronous, and symmetric bursts of 3-Hz spike-and-wave discharges are observed on the electroencephalogram, whereas interictal background activity is normal. This kind of epilepsy has to be differentiated from other generalized epilepsies such as juvenile absence epil...... hiện toàn bộ
Benign Nocturnal Childhood Occipital Epilepsy: A New Syndrome with Nocturnal Seizures, Tonic Deviation of the Eyes, and Vomiting
Journal of Child Neurology - Tập 4 Số 1 - Trang 43-49 - 1989
C. P. Panayiotopoulos, Jean Aicardi
An epileptic syndrome of benign nocturnal childhood occipital epilepsy with excellent prognosis is described. The syndrome is characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. There may be marching to involve the head and limbs, ending with a generalized tonic-clonic seizure. Consciousness is usually, but not invariably, disturbed. I...... hiện toàn bộ
Pilocytic Astrocytoma
Journal of Child Neurology - Tập 28 Số 5 - Trang 625-632 - 2013
Zsila Sadighi, John M. Slopis
Pilocytic astrocytoma, the most common pediatric brain tumor, is a clinically and molecularly heterogeneous disease that occurs most often in the cerebellum and hypothalamic and chiasmatic regions. Classically, pilocytic astrocytomas are driven by the mitogen-activated protein kinase/extracellular signal-regulated kinase pathway. Recently described genetic aberrations involving this pathw...... hiện toàn bộ
Pilocytic Astrocytoma: A Review of General, Clinical, and Molecular Characteristics
Journal of Child Neurology - Tập 35 Số 12 - Trang 852-858 - 2020
Débora Salles, Gabriela Marini Laviola, Andréa Cristina de Moraes Malinverni, João Norberto Stávale
Pilocytic astrocytomas are the primary tumors most frequently found in children and adolescents, accounting for approximately 15.6% of all brain tumors and 5.4% of all gliomas. They are mostly found in infratentorial structures such as the cerebellum and in midline cerebral structures such as the optic nerve, hypothalamus, and brain stem. The present study aimed to list the main character...... hiện toàn bộ
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