Results 121 to 130 of about 433,850 (368)

Associations between parental psychiatric disorders and autism spectrum disorder in the offspring

Autism Research, Volume 15, Issue 12, Page 2409-2419, December 2022., 2022
Abstract Whether parental psychiatric disorders are associated with autism spectrum disorder (ASD) in offspring has remained inconclusive. We examined the associations of parental psychiatric disorders with ASD in offspring. This population‐based case–control study used Taiwan's National Health Insurance Research Database to identify a cohort of ...
Yi‐Ling Chien, Chi‐Shin Wu, Yen‐Chen Chang, Mei‐Leng Cheong, Tsung‐Chieh Yao, Hui‐Ju Tsai   +5 more
wiley   +1 more source

The Experiences of Late-diagnosed Women with Autism Spectrum Conditions: An Investigation of the Female Autism Phenotype

Journal of Autism and Developmental Disorders, 2016
We used Framework Analysis to investigate the female autism phenotype and its impact upon the under-recognition of autism spectrum conditions (ASC) in girls and women.
Sarah Bargiela, Robyn Steward, W. Mandy
semanticscholar   +1 more source

Integrated genetic and methylomic analyses identify shared biology between autism and autistic traits

Molecular Autism, 2019
Previous studies have identified differences in DNA methylation in autistic individuals compared to neurotypical individuals. Yet, it is unclear if this extends to autistic traits—subclinical manifestation of autism features in the general population ...
Aicha Massrali, Helena Brunel, Eilis Hannon, Chloe Wong, iPSYCH-MINERvA Epigenetics Group, Simon Baron-Cohen, Varun Warrier   +6 more
doaj   +1 more source

The Pathophysiology of Autism [PDF]

Global Advances in Health and Medicine, 2013
Autism has been classically defined by its behavioral symptoms. Traditional medical research has focused on genetic or intrinsic brain-based causes of autism. While both of these are important, additional research has focused on the underlying disordered biochemistry seen in many individuals with autism.
openaire   +3 more sources

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu, Kierstin Keller, Dong Li, Hope Thomas, Nora O'Connor, Abbas F. Jawad, Allison Thomas, Nina H. Thomas, Hakon Hakonarson, Leslie Castelo‐Soccio, Sarah E. Sheppard   +10 more
wiley   +1 more source

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2‐Associated Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SATB2‐associated syndrome (SAS) is characterized by intellectual disability, neurodevelopmental disorders, cleft palate, and dental abnormalities. SAS is caused by variants in the special AT‐rich sequence‐binding protein 2 (SATB2), which encodes a transcription factor containing two CUT domains and a homeobox (HOX) domain.
Nao Ukita, Takuya Ogawa, Mamiko Yamada, Chisen Takeuchi, Kenjiro Kosaki, Keiji Moriyama   +5 more
wiley   +1 more source

Community implementation of a brief parent mediated intervention for toddlers with probable or confirmed autism spectrum disorder: feasibility, acceptability, and drivers of success (IE Drmic et al.)

Frontiers in Pediatrics
BackgroundSocial ABCs is a caregiver-mediated Naturalistic Developmental Behavioral Intervention for toddlers with confirmed/suspected Autism Spectrum Disorder (ASD), with evidence in controlled research settings. Information is lacking on implementation
Irene Drmic, Jessica Brian, Jessica Brian, Caroline Roncadin, Chantelle Shaver, Marlene Pase, Natalie Rugajs, Kristina Tofano, Erin Dowds, Lonnie Zwaigenbaum, Isabel M. Smith, Susan E. Bryson   +11 more
doaj   +1 more source

On the aetiology of autism [PDF]

Acta Paediatrica, 2010
I have suggested that the primary environmental trigger for autism is not vaccinations, toxins or infections, but gestational and early childhood vitamin D deficiency (1,2). Subsequently, the title of an article in Scientific American recently asked, ‘What if vitamin D deficiency is a cause of autism?’ (3) Since then, an article on vitamin D and autism
openaire   +3 more sources

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren, Louisa Kalsner, Jessica M. Ewald, Michael Peracchio, Cameron King, Purva Vats, Peter A. Audano, Peter N. Robinson, Mark D. Adams, Melissa A. Kelly, Adam P. Matson   +10 more
wiley   +1 more source

Natural History of NAA15‐Related Neurodevelopmental Disorder Through Adolescence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The NatA N‐terminal acetyltransferase complex is composed of the NAA10 catalytic subunit and the auxiliary subunits NAA15 and HYPK. While those with variants in the enzymatic subunit develop Ogden Syndrome, individuals with variants in the NAA15 coding region develop NAA15‐related neurodevelopmental syndrome, which presents with a wide array ...
Rikhil Makwana, Carolina Christ, Rahi Patel, Elaine Marchi, Randie Harpell, Gholson J. Lyon   +5 more
wiley   +1 more source