Results 121 to 130 of about 2,916,958 (331)
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 +3 more
wiley +1 more source
A Comparative Study on Accessibility for Autistic Individuals with Urban Mobility Apps [PDF]
arXivAutism Spectrum Disorder (ASD) is a neurodivergent condition with a wide range of characteristics and support levels. Individuals with ASD can exhibit various combinations of traits such as difficulties in social interaction, communication, and language, alongside restricted interests and repetitive activities.
arxiv
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 +5 more
wiley +1 more source
International Journal of Child Development and Mental Health, 2016 The objectives of this research were to develop and investigate the effect of equine assisted therapy on the reaction time and attention span of youths with autistic spectrum disorder (ASD). This research was a quasi – experimental design.
Supattikorn Yotchukiat +2 more
doaj
PERAN ORANG TUA DALAM MEMBANTU PERKEMBANGAN DIRI ANAK AUTISME
Psympathic: Jurnal Ilmiah Psikologi, 2018 No one in this world wants to have an abnormal child. All parents want their children normal. In fact, some of them have are not, for example autistic child. Autism is a rare developmental disorder involving inability to communicate with respond to other
Nisa Hermawati
doaj +1 more source
Catatonia in autistic spectrum disorders [PDF]
, 2000 Lorna Wing, Amitta Shah
openalex +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
Application of Artificial Intelligence in Supporting Healthcare Professionals and Caregivers in Treatment of Autistic Children [PDF]
arXivAutism Spectrum Disorder (ASD) represents a multifaceted neurodevelopmental condition marked by difficulties in social interaction, communication impediments, and repetitive behaviors. Despite progress in understanding ASD, its diagnosis and treatment continue to pose significant challenges due to the variability in symptomatology and the necessity for
arxiv
Possible causes of catatonia in autistic spectrum disorders [PDF]
, 2000 Robert Chaplin
openalex +1 more source
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 +6 more
wiley +1 more source