Results 61 to 70 of about 7,199,374 (204)

A new strategy to uncover fragile X proteomic biomarkers using the nascent proteome of peripheral blood mononuclear cells (PBMCs)

Scientific Reports, 2021
Fragile X syndrome (FXS) is the most prevalent inherited cause of intellectual disabilities and autism spectrum disorders. FXS result from the loss of expression of the FMRP protein, an RNA-binding protein that regulates the expression of key synaptic ...
Olivier Dionne, François Corbin
doaj   +1 more source

Social cognition in children and adolescents with fragile X syndrome: A comparison with individuals with autism symptoms and typical development

Journal of Neuropsychology, EarlyView.
Abstract Most individuals with fragile X syndrome (FXS) exhibit symptoms of autism spectrum disorder (ASD), suggesting a substantial overlap in social cognitive profiles. This cross‐sectional study aimed to explore social cognitive abilities in children and adolescents with FXS in comparison with an age‐matched heterogeneous ASD group and typically ...
Kamil R. Hiralal, Nienke Bouw, Britt R. Kok, Kyra Lubbers, Bram Dierckx, Kirstin Greaves‐Lord, Manon H. J. Hillegers, Gwendolyn C. Dieleman, Sabine E. Mous   +8 more
wiley   +1 more source

Periventricular Heterotopia in Fragile X Syndrome

, 2006
The authors describe two unrelated individuals with fragile X syndrome (FXS) due to marked expansion and instability of the CGG trinucleotide repeats within the fragile X mental retardation 1 gene (FMR1) and periventricular heterotopia (PH).
MORO F, BATTAGLIA A, ZOCCANTE L, PISANO T, FARRA F, PISANO T., BATTAGLIA A., POLLI R, GUERRINI R., DELLA BERNARDINA B, MURGIA, ALESSANDRA, DALLA BERNARDINA, Bernardo, ZOCCANTE L., PRAMPARO T, POLLI R., ZUFFARDI O., MURGIA A., DARRA, Francesca, ZUFFARDI O, MORO F., PRAMPANO T., Guerrini, Renzo   +21 more
core   +1 more source

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome.

PLoS ONE, 2016
Fragile X syndrome (FXS) is a common cause of intellectual disability that is most often due to a CGG-repeat expansion mutation in the FMR1 gene that triggers epigenetic gene silencing.
Nina Xie, He Gong, Joshua A Suhl, Pankaj Chopra, Tao Wang, Stephen T Warren   +5 more
doaj   +1 more source

De Novo Large Deletion Leading to Fragile X Syndrome

Frontiers in Genetics, 2022
Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5′UTR of
Poonnada Jiraanont, Esther Manor, Esther Manor, Nazi Tabatadze, Marwa Zafarullah, Guadalupe Mendoza, Gia Melikishvili, Flora Tassone, Flora Tassone   +8 more
doaj   +1 more source

School attendance in individuals with cerebral palsy in Brazil

Developmental Medicine &Child Neurology, Volume 68, Issue 12, Page 1740-1750, December 2026.
This graphical abstract summarizes the main findings of the study. Portuguese translation of this Original Article is available in the online issue. Abstract Aim To identify factors associated with school attendance among Brazilian children, adolescents, and young adults with cerebral palsy (CP) using population‐based data from the Brazilian Cerebral ...
Ricardo Rodrigues de Sousa Junior, Luana Cristina da Silva, Ana Cristina Resende Camargos, Eliane Beatriz Cunha Policiano, Lívia Ferreira Coutinho Alonso, Nadia Badawi, Israt Jahan, Gulam Khandaker, Maria De Las Mercedes Ruiz Brunner, Paula Silva de Carvalho Chagas, Hércules Ribeiro Leite   +10 more
wiley   +1 more source

Longitudinal Profiles of Expressive Vocabulary, Syntax, and Pragmatic Language in Boys with Fragile X Syndrome or Down Syndrome [PDF]

, 2013
Fragile X syndrome (FXS) and Down syndrome (DS) are the two leading genetic causes of intellectual disability, and FXS is the most common known genetic condition associated with autism. Both FXS and DS are associated with significant language impairment,
Roberts, Joanne, Martin, Gary E., Estigarribia, Bruno   +2 more
core   +1 more source

Sleep health of adults with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, Volume 68, Issue 12, Page 1645-1656, December 2026.
Although many people with cerebral palsy (CP) are adults, most sleep research in CP focuses on children. As poor sleep can affect pain, mood, energy, daily functioning, and quality of life we reviewed what is currently known about the sleep health of adults with CP. We searched three major research databases (MEDLINE, Embase, and CINAHL) up to February
Deepika Nagabhushan, Caleb Kim, Daniel G. Whitney, Rita Ayyangar, Angeline Bowman, Sonia Sharma, Maxwell S. Barnish, Daniel Whibley   +7 more
wiley   +1 more source

Mental health difficulties in cerebral palsy: A qualitative study of young people's and parents' perspectives

Developmental Medicine &Child Neurology, Volume 68, Issue 11, Page 1538-1550, November 2026.
Abstract Aim To explore the experiences of mental health difficulties and access to mental health support among young people with cerebral palsy (CP). Method We used a qualitative descriptive design. Participants were young people with CP aged 13 to 25 years and parents of children with CP (6–25 years).
Manjula Manikandan, Jennifer Fortune, Jessica Burke, Aisling Walsh, Aoife Twohig, Ian McClelland, Amanda Breen, Meriel Norris, Jennifer M. Ryan, RELATE‐CP study team, Reuel Jalal, Mary Cannon, Kimberley J Smith, Michael Walsh, Ruth Kevlin, Claire Kerr   +15 more
wiley   +1 more source

Additional file 1 of A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX)

, 2022
Additional file 1: Supplemental Table S1. Change in ABC-CFXS Social Avoidance, Irritability, and Socially Unresponsive/Lethargic Subscale Scores by CaGI-S Change Categories. Supplemental Table S2. Change in ABC-CFXS Social Avoidance, Irritability, and Socially Unresponsive/Lethargic Subscale Scores by CaGI-C Week 12 Values.
Berry-Kravis, Elizabeth, Hagerman, Randi, Budimirovic, Dejan, Erickson, Craig, Heussler, Helen, Tartaglia, Nicole, Cohen, Jonathan, Tassone, Flora, Dobbins, Thomas, Merikle, Elizabeth, Sebree, Terri, Tich, Nancy, Palumbo, Joseph M., O’Quinn, Stephen   +13 more
openaire   +1 more source