Results 101 to 110 of about 2,296,312 (307)

Cohort profile: The Halmstad University Register on Pupils with Intellectual Disability

JCPP Advances, EarlyView.
Abstract Background Knowledge about the living conditions among people with intellectual disabilities (ID) is globally scarce. Even in countries with good access to registers, this is often partly due to the absence of a single, comprehensive, nationwide register of individuals with ID or the inability to identify all individuals with ID within ...
Eva Jönsson, Carin Staland‐Nyman, Paul Lichtenstein, Magnus Tideman   +3 more
wiley   +1 more source

Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]

, 2017
Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego, Colamartino, Marco, DE ANGELIS, Federica, DE JACO, Antonella, Favaloro, FLORES LIETTA, Fiori, Elena, Mango, Dalila, Nistico', ROBERT GIOVANNI, Pascucci, Tiziana   +8 more
core   +2 more sources

Infant frontal alpha asymmetry predicts social attention and transdiagnostic risk for emotional reactivity

JCPP Advances, EarlyView.
Abstract Background Differences in Frontal Alpha Asymmetry (FAA), derived from the electroencephalogram (EEG), have been associated with approach‐withdrawal behavior, although inconsistently. The current study examined how early patterns of FAA during the first 2 years of life relate to various socioemotional characteristics (at 2 years) and ultimately
Viviane Valdes, Niccola Lutri, Haerin Chung, Charles A. Nelson   +3 more
wiley   +1 more source

Gold nanoparticles as catalysts for low-temperature WGS reaction [PDF]

, 2009
OBJECTIVES: This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations and to examine the phenotypic variation within C-terminal deletions.
Anderson, A., Bahi-Buisson, N., Bebbington, A., Ben Zeev, B., Christodoulou, John, Ho, Gavin, Jacoby, P., Leonard, H., Percy, A., Pineda, M., Ravine, D., Smeets, E.   +11 more
core   +2 more sources

Epigenetic mechanisms and therapeutic innovations in chronic pain‐associated neuropsychiatric co‐morbidities

British Journal of Pharmacology, EarlyView.
Abstract Chronic pain, marked by nociceptive sensitization and maladaptive neuroplasticity, affects 30% of the global population with escalating socioeconomic burdens. Epidemiological data show a 2‐3‐fold increase in neuropsychiatric co‐morbidities among individuals with chronic pain, where epigenetic dysregulation serves as a key mechanism linking ...
Kai Zhang, Sijia Zhu, Na Xing, Zhen Zhou, Jiayi Chen, Tianen Si, Mingrui Li, Lin Jia, Yousef Rastegar‐Kashkooli, Tom J. Wang, Wei Zhu, Jing Li, Chao Jiang, Junmin Wang, Moxin Wu, Xiaoping Yin, Weidong Zang, Jian Wang, Songxue Su   +18 more
wiley   +1 more source

Rett Syndrome without MECP2 Mutation in a Pakistani Girl

Life and Science, 2020
Rett syndrome is a rare inherited neurodegenerative disease which mostly affects females but has a lethal impact on males. Rett syndrome is mostly caused by mutations of Methyl CpG binding protein-2 (MECP2) gene located on chromosome Xq28. A 7-year girl
Rubina Dad, Humaira Aziz Sawal, Arsalan Ahmad, Muhammad Ikram Ullah, Muhammad Jawad Hassan   +4 more
doaj   +1 more source

Non‐epileptic paroxysmal events in Rett syndrome: A systematic review of case‐based and observational evidence

Developmental Medicine &Child Neurology, EarlyView.
This systematic review identifies and categorizes the spectrum of non‐epileptic paroxysmal events in Rett syndrome. Respiratory disturbances, behavioural episodes, and motor events were the most commonly reported. Improving clinician awareness and diagnostic clarity is key to avoiding unnecessary treatment and enhancing quality of life for individuals ...
Natasha Bhatti, Daniel E. Lumsden
wiley   +1 more source

Exosomes regulate neurogenesis and circuit assembly. [PDF]

, 2019
Exosomes are thought to be released by all cells in the body and to be involved in intercellular communication. We tested whether neural exosomes can regulate the development of neural circuits.
Carromeu, Cassiano, Cline, Hollis T, McClatchy, Daniel R, Mesci, Pinar, Muotri, Alysson R, Schiapparelli, Lucio, Sharma, Pranav, Yates, John R   +7 more
core  

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers

Journal of Child Psychology and Psychiatry, EarlyView.
Background Our aim was to update an existing model of communication ability for children with rare neurodevelopmental disorders (NDDs) by centring caregiver and family perspectives. This project is part of a larger initiative to improve the measurement of communication ability for these children in the context of clinical trials.
Christina K. Zigler, Molly McFatrich, Nicole Lucas, Kate Plyler, Leslie Zapata‐Leiva, Kelly Gordon, Harrison N. Jones, Li Lin, Jennifer Kern, Abigail Radar, Dandan Chen, Elika Bergelson, Kate Still, Brigette Hinger, Christal G. Delagrammatikas, Sarah Poliquin, Brittany P. Short, Liz Marfia‐Ash, Kimberly Stephens, Haley O. Oyler, J Michael Graglia, Kali Worth, Charlene Son Rigby, James R. Goss, Bo Bigelow, Geraldine Bliss, Karen Beatty, Leah Schust Myers, Melissa Thelen, Nuala Summerfield, Terry Jo Bichell, Bryce B. Reeve   +31 more
wiley   +1 more source