Results 121 to 130 of about 599,916 (304)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Looking Back: Twice-Exceptional Adults’ Perspectives on Their Educational Experiences

Education Sciences
Research on twice-exceptional Autistic (2eA) individuals has predominantly focused on children and adolescents, leaving a limited understanding of adult reflections on schooling.
Geraldine Townend, Marie McGregor, Jae Yup Jung, Heidi Merrington, Ainslie Robinson, Trevor Clark   +5 more
doaj   +1 more source

Virtual Learning Environments for Children With Autism

, 2010
[[abstract]]This paper presents research concerning a novel virtual learning environment designedto help children with autism develop empathic understanding useful to them in the realworld, including emotional recognition and predicting others’ thoughts.
Cheng, Y.; Moore, D.; McGrath, P.
core  

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Social enhancement of associative learning in neurotypical, speaking autistic, and minimally speaking autistic preschoolers

Molecular Autism
Background Associative learning, defined as the ability to form connections between events based on temporal or spatial contiguity, is typically enhanced by social stimuli.
Eleonora Paolizzi, Loredana Orsili, Meagan Talbott, Gioia Cavalli, Aubyn C. Stahmer, Nancy Raitano Lee, Diana L. Robins, Giacomo Vivanti   +7 more
doaj   +1 more source

A pilot evaluation of the Baby Social ABCs caregiver-mediated intervention for 6–15-month-olds with early signs of autism—feasibility, acceptability, and preliminary evidence

Frontiers in Child and Adolescent Psychiatry
BackgroundAutism spectrum disorder (autism) is a neurodevelopmental condition with a high prevalence of approximately 1 in 50 children. Early intervention can support long-term outcomes.
E. Dowds, S. MacWilliam, A. Solish, S. Osten, L. Zwaigenbaum, I. M. Smith, J. A. Brian   +6 more
doaj   +1 more source

A close eye on the eagle-eyed visual acuity hypothesis of autism [PDF]

, 2011
Autism spectrum disorders (ASD) have been associated with sensory hypersensitivity. A recent study reported visual acuity (VA) in ASD in the region reported for birds of prey. The validity of the results was subsequently doubted.
Henrik Walter, Gapp, V., Walter, H., Weber Bernhard, Hainz, D, Poustka Fritz, Ciaramidaro, Angela, Gapp, V, Weber, B, Fritz Poustka, Hainz, D., Schlitt, Sabine, Ciaramidaro Angela, Volker Gapp, Ciaramidaro, A, Weber, Bernhard, Schlitt Sabine, Schirman Shella, Gapp Volker, Hainz Daniela, Schlitt, S, Ciaramidaro, A., Hainz, Daniela, Schirman, S., Christine Freitag, Bolte, S, Walter, Henrik, Shella Schirman, Angela Ciaramidaro, Gapp, Volker, Freitag Christine, Walter, H, Bernhard Weber, Bölte, Sven, Freitag, C, Sabine Schlitt, Schlitt, S., Freitag, Christine M., Poustka, F., Bölte Sven, Daniela Hainz, Walter Henrik, Schirman, S, Schirman, Shella, Weber, B., Freitag, Christine, Sven Bölte, Freitag, C., Poustka, F, Poustka, Fritz   +49 more
core   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Recognising social and non-social emotions in self and others: A study of autism [PDF]

, 2010
Studies of emotion processing in autism have produced mixed results, with fewer studies observing autism-specific deficits than might be imagined. In the current study, 21 individuals with autism and 21 age- and ability-matched, learning disabled ...
Williams, David M., Williams, David, Happe, Francesca   +2 more
core   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source