Results 61 to 70 of about 1,142,913 (203)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Nutritional status and functions in children with cerebral palsy at different gestational ages

Pediatric Investigation, EarlyView.
The nutritional status of cerebral palsy was significantly associated with their motor, eating and drinking ability, and their ability of daily living in the 28–32‐week and the ≥37‐week gestational age group, whereas in 33–36‐week group, correlation was only observed between the nutritional status and eating and drinking ability.
Hongmei Tang, Qihong Wu, You Wang, Tingting Peng, Yiting Zhao, Jie Luo, Yaodan Liang, Kaiyin Cai, Linlin Wu, Qinyan Wu, Hongyu Zhou, Yiming Qiu, Jinling Li, Lu He, Kaishou Xu   +14 more
wiley   +1 more source

Understanding reliability of the observer-reported communication ability measure within Angelman syndrome through the lens of generalizability theory

Journal of Patient-Reported Outcomes
Aims Caregivers rate improved communication ability as one of the most desired outcomes for successful interventions for individuals with Angelman syndrome (AS). When measuring communication ability in clinical trials, the reliability of such measures is
Dandan Chen, Christina K. Zigler, Li Lin, Nicole Lucas, Molly McFatrich, Jennifer Panagoulias, Allyson Berent, Bryce B. Reeve   +7 more
doaj   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Angelman Syndrome: Finding the Lost Arc [PDF]

, 2010
Angelman syndrome is a neurodevelopmental disorder caused by mutations in the maternally inherited UBE3A gene, which encodes a ubiquitin ligase. Greer et al.
Schuman, E., Tai, Hwan-Ching, Tai, H., Schuman, Erin M.   +3 more
core   +1 more source

R306X Mutation in the Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report

Clinical Pathology, 2022
Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features.
Wafaa Bouzroud, Amal Tazzite, Sarah Berrada, Bouchaïb Gazzaz, Hind Dehbi   +4 more
doaj   +1 more source

Sleep profiles in individuals with rare neurogenetic syndromes

Developmental Medicine &Child Neurology, EarlyView.
Aim To characterize sleep profiles in individuals with neurogenetic disorders (NGDs) and examine the contribution of key clinical and psychiatric symptoms to these profiles. Method The parents of 248 individuals (aged 3–45 years) diagnosed with a range of NGDs, including PTEN hamartoma tumor syndrome (n = 111), SYNGAP1‐related intellectual disability ...
Isabella C. Reyes, Thomas W. Frazier, Antonio Y. Hardan, Lacey Chetcuti, Samuel J. R. A. Chawner, Emily Spackman, Mirko Uljarević, Emma K. Baker   +7 more
wiley   +1 more source

A patogênese genética e molecular da síndrome de Angelman

Jornal Brasileiro de Psiquiatria, 2011
Objetivo: Fornecer uma revisão atualizada em língua portuguesa sobre a síndrome de Angelman, com ênfase nos mecanismos genéticos e moleculares dessa patologia, uma causa de deficiência mental severa que em alguns casos pode apresentar recorrência ...
Angelica Francesca Maris, Alexis Trott
doaj   +1 more source

Speech, language, social communication, and communication assessments in Rett syndrome: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
This systematic overview highlights communication impairment as a defining feature of Rett syndrome, with expressive language consistently affected more severely than receptive language and social ability. Across the literature, most studies rely on caregiver‐reported measures, with relatively few employing direct or objective measurements of speech ...
Lucas N. Raniolo, Ruth O. Braden, Jana von Hehn, John Christodoulou, David N. Lieberman, David J. Amor, Adam P. Vogel   +6 more
wiley   +1 more source

Angelman syndrome and isovaleric acidemia: What is the link?

Molecular Genetics and Metabolism Reports, 2015
We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht, Samia Pichard, Hélène Maurey, Nuria Garcia Segarra, Séverine Drunat, Cécile Acquaviva-Bourdain, Sandrine Passemard, Jean-François Benoist, Anne-Laure Fauret-Amsellem, Manuel Schiff   +9 more
doaj   +1 more source