Developmental Medicine and Child Neurology

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‘Mental health of children and adolescents with Duchenne muscular dystrophy’
Developmental Medicine and Child Neurology - Tập 50 Số 8 - Trang 638-639 - 2008
Margaret Steele, Elizabeth Taylor, Catharina Young, Patricia McGrath, Brian Lyttle, Brenda Davidson
Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations
Developmental Medicine and Child Neurology - Tập 58 Số 1 - Trang 77-84 - 2016
Valeria Ricotti, William Mandy, Mariacristina Scoto, Marika Pane, Nicolas Deconinck, Sonia Messina, Eugenio Mercuri, David Skuse, Francesco Muntoni
AimDuchenne muscular dystrophy (DMD) is associated with neuropsychiatric disorders. The aim of the study was to characterize the DMD neuropsychiatric profile fully and to explore underlying genotype/phenotype associations.MethodOne hundred and thirty males with DMD (mean age 9y 10mo, range 5–17y) in four European centres were included and completed IQ assessment and a neurodevelopmental‐screening ... hiện toàn bộ
What's in a name? ‘Psychogenic’ non‐epileptic events in children and adolescents
Developmental Medicine and Child Neurology - Tập 57 Số 1 - Trang 100-101 - 2015
Colin Reilly, Andrew McWilliams, Isobel Heyman
Magnetic Resonance Imaging Children with Spastic Diplegia: Correlation with the Severity of their Motor and Mental Abnormality
Developmental Medicine and Child Neurology - Tập 33 Số 1 - Trang 18-25 - 1991
Kenji Yokochi, Kumi Aiba, Masayo Horie, Kazuhisa Inukai, Shinji Fujimoto, Mariko Kodama, Kazuo Kodama
SUMMARYMagnetic resonance imaging (MRI) findings for 34 children with spastic diplegia, examined between two and 10 years of age, were analysed. Dilatation of the trigone, atrophy of the peritrigonal white matter and prominent deep cortical sulci were seen. On T2‐weighted images, periventricular high‐intensity areas in the white matter adjacent to the trigones and bodies of the lateral ventricles ... hiện toàn bộ
Bilateral Striatal Lesions
Developmental Medicine and Child Neurology - Tập 30 Số 2 - Trang 252-257 - 1988
Vincenzo Leuzzi, I. Favatà, Stefano Seri
Eyemovement abnormalities in a case of Tourette syndrome
Developmental Medicine and Child Neurology - Tập 39 Số 4 - Trang 270-273 - 1997
Andrew Narita, F S. Shairkat, Bryan Lask, D S I. Tayior, Christopher M. Harris
Tourette syndrome (TS) is a neuropsychiatric disorder that is characterised by the presence of multiple vocal, facial, and motor tics which change with time, and a number of other behavioural phenomena. Previous studies have not revealed any ocular‐motor abnormalities. We report the eye movement studies of a patient with TS, using electro‐oculography and simultaneous video recording. Intrusive sac... hiện toàn bộ
COGNITIVE FUNCTIONING IN LESCH‐NYHAN SYNDROME
Developmental Medicine and Child Neurology - Tập 37 Số 8 - Trang 715-722 - 1995
Wendy S. Matthews, Anita Solan, Gabor Barabas
SUMMARYThe present study represents the first effort to assess systematically the cognitive functioning of a population of individuals with Lesch‐Nyhan syndrome using standardized psychometric instruments. Seven residents from a special hospital setting participated. They ranged in age from 10 years 1 month to 22 years 3 months (mean 13 years 7 months). Using the Stanford‐Binet Intelligence Scale:... hiện toàn bộ
Lesch‐Nyhan Disease: Clinical Experience with Nineteen Patients
Developmental Medicine and Child Neurology - Tập 24 Số 4 - Trang 293-306 - 1982
Richard Christie, Carolyn Bay, Irvin A. Kaufman, Bohdan Bakay, Margaret Borden, William L. Nyhan
SUMMARYThe clinical phenotype in Lesch‐Nyhan disease has been analyzed in 19 patients studied in hospital. In each case the diagnosis was made on the basis of inactivity of the enzyme hypoxanthine guanine phosphoribosyltransferase in erythrocyte lysates. All hadRÉSUMÉLa maladie de Lesch‐Nyhan: revue d'une expérience clinique chez 19 sujetsZUSAMMENFASSUNGLesch‐Nyhan Syndrom: eine Zusammenfassung de... hiện toàn bộ
A Mitochondrial Myopathy in an Infant with Lactic Acidosis
Developmental Medicine and Child Neurology - Tập 32 Số 6 - Trang 528-531 - 1990
Verena Griebel, Ingeborg Krägeloh‐Mann, W. Ruitenbeek, J. M. F. Trijbels, Werner Paulus
SUMMARYWe describe a girl with mitochondrial myopathy, who presented with general muscle weakness, muscle hypotonia and motor retardation. The level of blood lactate and pyruvate was consistently increased. Enzymatic studies showed impairment of NADH‐dehydrogenase activity (complex 1 of the respiratory chain) in skeletal muscle. Electron‐microscopy of a muscle biopsy showed abnormalities of a mito... hiện toàn bộ
Life quality and health in adolescents and emerging adults with epilepsy during the years of transition: a scoping review
Developmental Medicine and Child Neurology - Tập 56 Số 5 - Trang 421-433 - 2014
Lauren Thomson, Nora Fayed, Fady Sedarous, Gabriel M. Ronen
AimsThe aims of this study were to (1) search the literature in order to identify the challenges facing adolescents and emerging adults with epilepsy; and (2) categorize these issues within both the framework of the International Classification of Functioning, Disability and Health (ICF) and an empirical model of quality of life (QOL) in childhood epilepsy.MethodWe systematically searched PsycINFO... hiện toàn bộ
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