Delineating the autistic phenotype in children with neurofibromatosis type 1
Background Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this
Anita K. Chisholm +17 more
doaj +1 more source
Visual orienting in the early broader autism phenotype: disengagement and facilitation [PDF]
Background: Recent studies of infant siblings of children diagnosed with autism have allowed for a prospective approach to examine the emergence of symptoms and revealed behavioral differences in the broader autism phenotype within the early years.
Elsabbagh, Mayada +9 more
openaire +3 more sources
After spinal cord injury, adult microglia remain persistently activated with chronic PRMT6 (protein arginine methyltransferase 6) upregulation. Prmt6 deficiency or inhibition reestablishes microglial homeostasis and promotes a scar‐limited repairment, enhancing axonal regrowth.
Weilin Peng +9 more
wiley +1 more source
What Do We Know About the Preterm Behavioral Phenotype? A Narrative Review
Preterm birth is associated with a significantly increased risk for childhood and adolescent psychopathology relative to full-term birth, with an inverse relationship between gestational age at birth and later risk for psychopathology.
Grace C. Fitzallen +3 more
doaj +1 more source
Greater magnocellular saccadic suppression in high versus low autistic tendency suggests a causal path to local perceptual style [PDF]
Saccadic suppression—the reduction of visual sensitivity during rapid eye movements—has previously been proposed to reflect a specific suppression of the magnocellular visual system, with the initial neural site of that suppression at or prior to ...
David P. Crewther +4 more
doaj +1 more source
ハハオヤ ノ ジヘイショウ コウイキ ヒョウゲンガタ ガ ジヘイショウ スペクトラムジ ノ タイジン オウトウセイ ヲ ヨソク スル [PDF]
Chiaki Hasegawa, Mitsuru Kikuchi, Yuko Yoshimura, Hirotoshi Hiraishi, Toshio Munesue, Hideo Nakatani, Haruhiro Higashida, Minoru Asada, Manabu Oi and Yoshio Minabe, Broader autism phenotype in mothers predicts social responsiveness in young children with
ハセガワ, チアキ +1 more
core +1 more source
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde +12 more
wiley +1 more source
Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder. [PDF]
Autism spectrum disorder comprises several neurodevelopmental conditions presenting symptoms in social communication and restricted, repetitive behaviors.
Daniela Brunner +16 more
doaj +1 more source
Diary reports of concerns in mothers of infant siblings of children with autism across the first year of life [PDF]
We examined the home-based concerns reported by mothers of infant siblings of children with autism across the first year of life. At all three ages measured, mothers of high-risk infants were significantly more likely than mothers of low-risk infants to ...
Nelson, Charles A. +2 more
core +3 more sources
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source

