Results 11 to 20 of about 24,501 (230)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Medical Gases as Emerging Regulators of Paediatric Endocrine and Neurodevelopmental Pathways: A Mini-Review. [PDF]

Acta Paediatr
ABSTRACT Aim Medical gases, including nitric oxide, carbon monoxide, hydrogen sulphide and molecular hydrogen, have emerged as key regulators of redox balance and cellular signalling. This mini‐review examines their relevance to paediatric endocrine and neurodevelopmental pathways, domains particularly sensitive to oxidative and inflammatory ...
Paparella R, Panvino F, Pucarelli I, Tarani L.   +3 more
europepmc   +2 more sources

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic. [PDF]

Clin Genet
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Weisblum Neuman H, Via Dorembus S, Shlomovitz O, Greenberger S, Lahav E, Mini-Goldberger S, Tzadok M.   +6 more
europepmc   +2 more sources

Diagnóstico genético e clínico do autismo infantil Genetic and clinical diagnosis of infantile autism

Arquivos de Neuro-Psiquiatria, 1998
Os principais objetivos deste estudo foram caracterizar variáveis selecionadas para um melhor entendimento e diagnóstico do autismo infantil, tais como: achados clínicos e de imagem, critérios diagnósticos, frequência de distúrbios neuropsiquiátricos nos
MARIA IONE FERREIRA DA COSTA, HENRIQUE GIL DA SILVA NUNESMAIA   +1 more
doaj   +1 more source

History of autism. The beginnings. Collusions or serendipity [PDF]

Revista de Știinţe Educaţiei, 2018
The article presents the first years of the autism and the way it was viewed since the autistic features were first observed until 75 years ago when Leo Kanner coined the term “autism”.
AL GHAZI Loredana
doaj   +1 more source

Autism as a disorder of neural information processing: directions for research and targets for therapy [PDF]

, 2004
The broad variation in phenotypes and severities within autism spectrum disorders suggests the involvement of multiple predisposing factors, interacting in complex ways with normal developmental courses and gradients. Identification of these factors, and
A Klin, A Klin, A Peters, A Pickles, A Shah, A Shah, AL Beaudet, AM Comi, AM Connolly, AY Hardan, BF Sparks, BK Lipska, C Hughes, C Hughes, C Kemner, C Kemner, C Lord, C Park, CF Hohmann, CJ Machado, Cohen, CT Ashley Jr, D Tantam, D Whitehouse, DB Bailey Jr, DH Geschwind, DJ Laurie, DJ Posey, DL Braff, DR Denney, DW Smith, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Courchesne, E Fombonne, E Fransen, E Perry, E Tierney, EF Chang, EH Aylward, EH Aylward, EH Cook Jr, EH Cook Jr, EM Ornitz, EM Powell, F Castelli, F Graham, F Happ, F Kimura, G Raymond, GE Homanics, GJ Blatt, GM Anderson, GM McAlonan, GS Huh, GS Tint, GT Baranek, H Kamiguchi, H van Engeland, HA Ring, HD Critchley, I Cohen, I Krause, I Lucki, IJ Weiler, IM Smith, J Boucher, J Caston, J DeFelipe, J Piven, J Piven, J Piven, J Russell, J Townsend, J Townsend, J Townsend, J Veenstra-VanderWeele, J.L. McCauley, JA Burack, JA Court, JA Lamb, JE Long, JK Pritchard, JL Ingram, JLR Rubenstein, JM Silverman, JP Wisor, K Ballaban-Gil, K Hugdahl, K Pierce, K Pierce, K Rubia, KC Plaisted, KG Plaisted, KY Miyashiro, L Jorde, L Mottron, L Shi, LH Rolf, LJ Miller, LM Boulanger, LM Marubio, LR Cardon, M Alkondon, M Hallett, M Kuwamura, M Lauritsen, M Lee, M Pieretti, M Toichi, MA Geyer, MA Geyer, MA O'Riordan, Martha R. Herbert, MF Casanova, MH Johnson, MK Belmonte, MK Belmonte, MK Belmonte, ML Bauman, MR Picciotto, MR Young, MV Pletnikov, N Akshoomoff, N Risch, NL Ward, NR Mirza, NR Swerdlow, NR Swerdlow, O Marin, P Dalton, P Tueting, PH Patterson, PI Yakovlev, PK Todd, PM Whitaker-Azmitia, R DeLong, R Galvez, R Lalonde, R-A Müller, RA Carper, RA Corriveau, RC Belser, RE Amir, RI Kelley, RJ Schain, RM Carney, RN Leaton, RP Hobson, RP Warren, RP Warren, RP Warren, RT Schultz, S Alcantara, S Anderson, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Baron-Cohen, S Bobee, S Chakrabarti, S Gupta, S Jamain, S Ozonoff, S Stevens, S Tordjman, S Tordjman, SA Irwin, SA Irwin, SB Powell, SD Ugarte, SE Folstein, SE Folstein, SH Fatemi, SJ Kim, SJ Rogers, T Hashimoto, T Rogers, T Stühmer, T Stühmer, TA Comery, TH Wassink, TK Hensch, TM DeLorey, U Frith, U Frith, W Hirstein, W Reik, WT Greenough, Y Yu, YH Jiang, YH Jiang   +197 more
core   +1 more source

Disturbances of Shared Intentionality in Schizophrenia and Autism

Frontiers in Psychiatry, 2021
Schizophrenia and autism are today considered complex spectrum disorders characterized by difficulties in social behavior. Drawing on recent advances in collective or shared intentionality studies, we present a novel theoretical approach to these social ...
Alessandro Salice, Alessandro Salice, Mads Gram Henriksen   +2 more
doaj   +1 more source

Pain sensitivity and observer perception of pain in individuals with autistic spectrum disorder [PDF]

, 2013
The peer-reviewed literature investigating the relationship between pain expression and perception of pain in individuals with ASD is sparse. The aim of the present systematic PRIMSA review was twofold: first, to see what evidence there is for the widely
Allely, C.S.
core   +4 more sources

CONCOMITANCE OF INFANTILE AUTISM AND EPILEPSY: ETIOPATHOGENIC ASPECTS

Неврология, нейропсихиатрия, психосоматика, 2009
The pathogenetic aspects of a concomitance of infantile autism and epilepsy are considered. Data on the implication of genetic and organic disorders and epileptiform activity in the origin of these disorders are given.
E. V. Malinina, S. A. Suprun, E. A. Markova   +2 more
doaj   +1 more source

Epilepsy Association with Infantile Autism

Pediatric Neurology Briefs, 2011
The prevalence and types of epilepsy and other CNS diseases among 118 individuals diagnosed as children (median age 4 years) with infantile autism (IA) and 336 matched controls from the general population were determined in a longitudinal study at ...
J Gordon Millichap
doaj   +1 more source