Results 81 to 90 of about 219,712 (351)

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri, Jessica Gold, Nina Gold, Alanna Strong   +3 more
wiley   +1 more source

Pain Sensitivity and Observer Perception of Pain in Individuals with Autistic Spectrum Disorder

TheScientificWorldJournal, 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
C. Allely
semanticscholar   +1 more source

Autistic Spectrum Disorder and Childhood Onset Epilepsy

Pediatric Neurology Briefs, 2010
The prevalence of autistic spectrum disorder (ASD) among 519 patients with epilepsy, and the clinical characteristics of patients with both pathologies were analyzed retrospectively at Saga University, Japan.
J Gordon Millichap
doaj   +1 more source

Autistic traits in trichotillomania

Brain and Behavior, 2022
Introduction Although many variables have been examined as potentially contributing to the manifestation of trichotillomania (TTM), little research has focused on problems in social interactions.
Jon E. Grant, Samuel R. Chamberlain
doaj   +1 more source

Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe, Jessica Connors, Angela Arra, Katherine Dunn, Kim Blake, Johan van Limbergen   +5 more
wiley   +1 more source

Maternal Folic Acid and Risk of Childhood Autism

Pediatric Neurology Briefs, 2013
Researchers from the Norwegian Institute of Public Health, Oslo; Institute of Child Health, London, UK; and other centers in Norway, UK, and the US examined the association between maternal use of prenatal folic acid supplements (4 weeks before to 8 ...
J. Gordon Millichap
doaj   +1 more source

Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley   +1 more source

A companion to the preclinical common data elements for rodent genetic epilepsy models. A report of the TASK3‐WG1B: Paediatric and genetic models working group of the ILAE/AES joint translational TASK force

Epilepsia Open, EarlyView., 2022
Abstract Rodent models of epilepsy remain the cornerstone of research into the mechanisms underlying genetic epilepsy. Reproducibility of experiments using these rodent models, occurring across a diversity of laboratories and commercial vendors, remains an issue impacting the cost‐effectiveness and scientific rigor of the studies performed.
Massimo Mantegazza, Stėphane Auvin, Melissa Barker‐Haliski, Anna‐Maria Katsarou, Hana Kubova, Aristea S. Galanopoulou, Bridgette Semple, Christopher A. Reid   +7 more
wiley   +1 more source

Hyperpolarization Modulation of the T‐Type hCav3.2 Channel by Human Synenkephalin [1–53], a Shrew Neurotoxin Analogue without Paralytic Effects

Angewandte Chemie, EarlyView.
Human synenkephalin [1–53] (hSYN), an analogue peptide of shrew saliva neurotoxins, was synthesized and its structural characteristics studied. Synthetic hSYN potently activated the T‐type voltage‐gated Ca channel hCav3.2 but did not paralyze mealworms. These findings offer new insight into neurological disorder treatment and evolutionary mechanisms of
Ryo Fukuoka, Yusuke Yano, Nozomi Hara, Chihiro Sadamoto, Andres D. Maturana, Masaki Kita   +5 more
wiley   +2 more sources

A Case of Prader‐Willi Syndrome With a Deletion Including MAGEL2, NDN, and MKRN3, but Excluding SNRPN and SNORD116

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking, Yu An, Weimin Bi, Katrin Hinderhofer, Susanne Theiß, Anne Slavotinek, Christian P. Schaaf   +6 more
wiley   +1 more source