Results 41 to 50 of about 244,000 (312)

Behavioural outcomes and psychopathology during adolescence [PDF]

, 2013
Preterm birth is associated with a high risk of residual neurodevelopmental disability and cognitive impairment. These problems are closely associated with psychiatric disorders and thus it is unsurprising that preterm birth also confers high risk for ...
Johnson, Samantha J., Wolke, Dieter
core   +1 more source

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon, Nathalie Picard, Valeria d'Andrea, Enchi Chang, Joseph Leffler, Eleonora Centofante, Matthew Taylor, Francesca Bardi, Francesca Cavicchiolo, Takao K. Hensch, Stefano Panzeri, Chinfei Chen, Michela Fagiolini   +12 more
wiley   +1 more source

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report

Case Reports in Genetics
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due
Hasan Hasan, Ellery R. Santos, Seyedeh Ala Mokhtabad Amrei, Flora Tassone, Jamie Leah Randol, Paul Hagerman, Randi J. Hagerman   +6 more
doaj   +1 more source

Using Bayesian methodology to explore the profile of mental health and well-being in 646 mothers of children with 13 rare genetic syndromes in relation to mothers of children with autism

Orphanet Journal of Rare Diseases, 2018
Background It is well documented that mothers of children with intellectual disabilities or autism experience elevated stress, with mental health compromised.
Dawn Adams, Richard P Hastings, Clair Alston-Knox, Rina Cianfaglione, Kate Eden, David Felce, Gemma Griffith, Jo Moss, Chris Stinton, Chris Oliver   +9 more
doaj   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Full UPF3B function is critical for neuronal differentiation of neural stem cells [PDF]

, 2015
Acknowledgments We thank Fred H Gage (Salk Institute, La Jolla, CA, USA) for HCN-A94 cells and Niels Gehring (University of Cologne, Germany) for constructs.
Alrahbeni, Tahani, Anderson, Jihan, McCaig, Colin, Miedzybrodzka, Zosia, Muller, Berndt, Sartor, Francesca   +5 more
core   +2 more sources

Mental, behavioral and neurodevelopmental disorders in the ICD-11 : An international perspective on key changes and controversies [PDF]

, 2020
The Author(s). 2020Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, andreproduction in any ...
Berk, Michael, Brewin, Chris, Briken, Peer, Cohen-Kettenis, Peggy T, de Jonge, Peter, de Vries, Ymkje Anna, Fineberg, Naomi, Gaebel, Wolfgang, Grilo, Carlos M, Maercker, Andreas, Maj, Mario, Pike, Kathleen, Reed, Geoffrey M., Roest, Annelieke, Stein, D.J., Szatmari, Peter, Vieta, Eduard   +16 more
core   +9 more sources

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

Outcome measures in Angelman syndrome

Journal of Neurodevelopmental Disorders
Background Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and ...
Doesjka A. Hagenaar, Karen G. C. B. Bindels-de Heus, Maud M. van Gils, Louise van den Berg, Leontine W. ten Hoopen, Philine Affourtit, Johan J. M. Pel, Koen F. M. Joosten, Manon H. J. Hillegers, Henriëtte A. Moll, Marie-Claire Y. de Wit, Gwen C. Dieleman, Sabine E. Mous   +12 more
doaj   +1 more source

Effects of antiepileptic drugs in a new TSC/mTOR‐dependent epilepsy mouse model

Annals of Clinical and Translational Neurology, 2019
Objective An epilepsy mouse model for Tuberous Sclerosis Complex (TSC) was developed and validated to investigate the mechanisms underlying epileptogenesis. Furthermore, the possible antiepileptogenic properties of commonly used antiepileptic drugs (AEDs)
Linda M. C. Koene, Saskia E. vanGrondelle, Martina Proietti Onori, Ilse Wallaard, Nathalie H. R. M. Kooijman, Annabel vanOort, Jadwiga Schreiber, Ype Elgersma   +7 more
doaj   +1 more source