Results 111 to 120 of about 276,867 (293)

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Promoting Independence among Individuals with Autism Spectrum Disorders [PDF]

, 2014
Autism spectrum disorders are characterized by deficits in social and cognitive functioning. Many individuals with autism have poor executive functioning which inhibits their ability to initiate a task, to remain attentive, and to organize and sequence ...
Schack, Emma
core   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

A New Method to Evaluate Joint Hypermobility in Paediatric Patients with Neurodevelopmental Disorders: A Preliminary Study

Children
Background/Objectives: Neurodevelopmental disorders (NDDs) include a wide range of conditions that develop during the formation of the central nervous system, such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD ...
Leonardo Zoccante, Marco Luigi Ciceri, Gianfranco Di Gennaro, Marco Zaffanello   +3 more
doaj   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Pilot study of a real-time early agitation capture technology (REACT) for children with intellectual and developmental disabilities

Digital Health
Objective Children and adolescents with intellectual and developmental disabilities (IDD), particularly those with autism spectrum disorder, are at increased risk of challenging behaviors such as self-injury, aggression, elopement, and property ...
Nibraas Khan, Abigale Plunk, Zhaobo Zheng, Deeksha Adiani, John Staubitz, Amy Weitlauf, Nilanjan Sarkar   +6 more
doaj   +1 more source

The emerging role of the inwardly rectifying K+ channels in autism spectrum disorders and epilepsy [PDF]

, 2011
Autism is a complex behavioral disorder that develops prior to age three years and is distinguished by high heritability. Many genes predisposing to autism spectrum disorders (ASDs) have been identified.
D’Adamo, Maria Cristina, Imbrici, Paola, Martino, Dianda, Moro, Francesca, Pessia, Mauro, Roscini, Mauro, Santorelli, Filippo Maria, Sicca, Federico   +7 more
core  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

AVAIN YKSILÖLLISEEN ASUMISEEN : Kirjallisuuskatsaus autismin kirjon henkilöiden asumisesta ja siihen liittyvistä tuen tarpeista [PDF]

, 2011
Opinnäytetyömme tavoitteena oli tutkia autismin kirjon henkilöiden itsenäisen elämän ja asumisen tuen tarpeita sekä laadukkaiden asumispalveluiden järjestämistä.
Göös, Riina, Myllykoski, Annika
core  

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source