A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11. 2 deletion syndrome

AM Fiksinski, GD Hoftman, JAS Vorstman… - Molecular …, 2023 - nature.com
Recently, increasing numbers of rare pathogenic genetic variants have been identified that
are associated with variably elevated risks of a range of neurodevelopmental outcomes …

Speech-language disorders in 22q11. 2 deletion syndrome: best practices for diagnosis and management

CB Solot, D Sell, A Mayne, AL Baylis, C Persson… - American journal of …, 2019 - ASHA
Purpose Speech and language disorders are hallmark features of 22q11. 2 deletion
syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities …

[HTML][HTML] Dopamine dysregulation in reward and autism spectrum disorder

K Blum, A Bowirrat, K Sunder, PK Thanos, C Hanna… - Brain Sciences, 2024 - mdpi.com
Autism spectrum disorder (ASD) is primarily characterized by core deficits in social skills,
communication, and cognition and by repetitive stereotyped behaviors. These …

Decoding microRNAs in autism spectrum disorder

J Li, X Xu, J Liu, S Zhang, X Tan, Z Li, J Zhang… - … Therapy-Nucleic Acids, 2022 - cell.com
Autism spectrum disorder (ASD)—a congenital mental disorder accompanied by social
dysfunction and stereotyped behaviors—has attracted a great deal of attention worldwide. A …

Williams syndrome, human self-domestication, and language evolution

A Niego, A Benítez-Burraco - Frontiers in psychology, 2019 - frontiersin.org
Language evolution resulted from changes in our biology, behavior, and culture. One source
of these changes might be human self-domestication. Williams syndrome (WS) is a clinical …

Critical region within 22q11. 2 linked to higher rate of autism spectrum disorder

CC Clements, TL Wenger, AR Zoltowski, JR Bertollo… - Molecular autism, 2017 - Springer
Background Previous studies have reported no clear critical region for medical comorbidities
in children with deletions or duplications of 22q11. 2. The purpose of this study was to …

Social behavior in 16p11. 2 and 22q11. 2 copy number variations: Insights from mice and humans

A Benedetti, C Molent, W Barcik… - Genes, Brain and …, 2022 - Wiley Online Library
Abstract Genetic 16p11. 2 and 22q11. 2 deletions and duplications in humans may alter
behavioral developmental trajectories increasing the risk of autism and schizophrenia …

[HTML][HTML] Decoding the genetic landscape of autism: A comprehensive review

M Al-Beltagi, NK Saeed, AS Bediwy… - World Journal of …, 2024 - pmc.ncbi.nlm.nih.gov
BACKGROUND Autism spectrum disorder (ASD) is a complex neurodevelopmental
condition characterized by heterogeneous symptoms and genetic underpinnings. Recent …

Anhedonia and Hyperhedonia in autism and related neurodevelopmental disorders

GS Dichter, J Rodriguez-Romaguera - … : Preclinical, Translational, and …, 2022 - Springer
Although autism spectrum disorder (ASD) is defined by impaired social communication and
restricted and repetitive behaviors and interests, ASD is also characterized by impaired …

Psychiatric disorders and autism in young children with 22q11. 2 deletion syndrome compared to children with idiopathic autism

Y Serur, DS Frumber, K Daon, D Sobal-Havia… - European …, 2019 - cambridge.org
The 22q11. 2 deletion syndrome (22q11DS) is a neurogenetic condition characterized by
high rates of psychiatric disorders. To our knowledge, this is the first study to assess …