Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

F Tassone, D Protic, EG Allen, AD Archibald, A Baud… - Cells, 2023 - mdpi.com
The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is
characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the …

A constellation of eye-tracking measures reveals social attention differences in ASD and the broad autism phenotype

K Nayar, F Shic, M Winston, M Losh - Molecular Autism, 2022 - Springer
Background Social attention differences, expressed through gaze patterns, have been
documented in autism spectrum disorder (ASD), with subtle differences also reported among …

Autism under the umbrella of ESSENCE

E Fernell, C Gillberg - Frontiers in Psychiatry, 2023 - frontiersin.org
This brief article gives a short overview of “comorbidity” in autism. The most common co-
occurring disorders will be presented and discussed within the context of ESSENCE (Early …

The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities

N Maltman, J Guilfoyle, K Nayar, GE Martin… - Frontiers in …, 2021 - frontiersin.org
The FMR1 gene in its premutation (PM) state has been linked to a range of clinical and
subclinical phenotypes among FMR1 PM carriers, including some subclinical traits …

Autistic Traits Associated with the Fragile X Premutation Allele: The Neurodevelopmental Profile

A Zucker, VJ Hinton - Developmental Neuropsychology, 2024 - Taylor & Francis
Although most individuals who carry the Fragile X premutation allele, defined as 55–200
CGG repeats on the X-linked FMR1 gene (Fragile X Messenger Ribonucleoprotein 1 gene) …

Social Communication Delay in an Unbiased Sample of Preschoolers With the FMR1 Premutation

J Klusek, E Will, T Christensen, K Caravella… - Journal of Speech …, 2024 - ASHA
Purpose: The Fragile X Messenger Ribonucleoprotein-1 (FMR1) premutation (FXpm) is a
genetic variant that is common in the general population and is associated with health …

Evidence for Three Subgroups of Female FMR1 Premutation Carriers Defined by Distinct Neuropsychiatric Features: A Pilot Study

LM Schmitt, KC Dominick, R Liu… - Frontiers in Integrative …, 2022 - frontiersin.org
Over 200 Cytosine-guanine-guanine (CGG) trinucleotide repeats in the 5′ untranslated
region of the Fragile X mental retardation 1 (FMR1) gene results in a “full mutation,” clinically …

A Unique Visual Attention Profile Associated With the FMR1 Premutation

M Winston, K Nayar, E Landau, N Maltman… - Frontiers in …, 2021 - frontiersin.org
Atypical visual attention patterns have been observed among carriers of the fragile X mental
retardation gene (FMR1) premutation (PM), with some similarities to visual attention patterns …

Slower Peak Pupillary Response to Emotional Faces in Parents of Autistic Individuals

AL Hogan, M Winston, J Barstein, M Losh - Frontiers in Psychology, 2022 - frontiersin.org
Background Atypical autonomic arousal has been consistently documented in autism
spectrum disorder (ASD) and is thought to contribute to the social-communication phenotype …

Association of Autistic Traits and Psychiatric Symptoms in Children with a Fragile X Premutation Allele: The Neurodevelopmental Profile

A Zucker - 2024 - search.proquest.com
Throughout the lifespan, approximately 14% of males and 5% of females with a fragile X
premutation (PM)(defined as 55-200 CGG repeats on the X-linked FMR1 gene) are …