ADHD and ASD symptoms in young males with fragile X syndrome: associations with early trajectories of inhibitory control
Child Neuropsychol. 2022 Sep 9:1-27. doi: 10.1080/09297049.2022.2120605. Online ahead of print.ABSTRACTInhibitory control (IC), the ability to suppress inappropriate responses, emerges late in the first year of life and improves across typical development, concurrent with brain maturation. The development of IC is critical to various social-emotional and behavioral functions, with IC difficulties being linked to numerous neurodevelopmental disorders, including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Fragile X syndrome (FXS) is a single-gene disorder characterized by IC difficulti...
Source: Child Neuropsychology - September 9, 2022 Category: Child Development Authors: Erin Hunt Abigail Hogan Elizabeth A Will Jane E Roberts Source Type: research

Genes, Vol. 13, Pages 1609: Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review
uisa Martin-Ramos Manuela Fernández-Guijarro Marta Moreno-García Maria Isabel Alvarez-Mora Fragile X syndrome (FXS) is caused by an abnormal expansion of the number of trinucleotide CGG repeats located in the 5′ UTR in the first exon of the FMR1 gene. Size and methylation mosaicisms are commonly observed in FXS patients. Both types of mosaicisms might be associated with less severe phenotypes depending on the number of cells expressing FMRP. Although this dynamic mutation is the main underlying cause of FXS, other mechanisms, including point mutations or deletions, can lead to FXS. Several reports...
Source: Genes - September 8, 2022 Category: Genetics & Stem Cells Authors: Maria Jose G ómez-Rodríguez Montserrat Morales-Conejo Ana Arteche-L ópez Maria Teresa S ánchez-Calvín Juan Francisco Quesada-Espinosa Irene G ómez-Manjón Carmen Palma-Milla Jose Miguel Lezana-Rosales Ruben P érez de la Fuente Maria-Luisa Martin-Ra Tags: Case Report Source Type: research

Genes, Vol. 13, Pages 1594: Parent and Caregiver Perspectives towards Cannabidiol as a Treatment for Fragile X Syndrome
do Lozano Cannabidiol (CBD) is a non-intoxicating chemical in cannabis plants that is being investigated as a candidate for treatment in Fragile X Syndrome (FXS), a leading known cause of inherited intellectual developmental disability. Studies have shown that CBD can reduce symptoms such as anxiety, social avoidance, hyperactivity, aggression, and sleep problems. This is a qualitative study that utilized a voluntary-anonymous survey that consisted of questions regarding demographics, medical information, the form, type, brand, dose, and frequency of CBD use, the rationale for use, the perception of effects, side effec...
Source: Genes - September 6, 2022 Category: Genetics & Stem Cells Authors: Madison Maertens Hailey Silver Jayne Dixon Weber Hillary Rosselot Reymundo Lozano Tags: Article Source Type: research

Agmatine relieves behavioral impairments in Fragile X mice model
CONCLUSIONS: The results highlight the potential of agmatine's novel disease-ameliorating effects in FXS, which warrants further studies to ascertain whether these findings translate into clinical effects in FXS patients.PMID:36057317 | DOI:10.1016/j.neuropharm.2022.109234 (Source: Neuropharmacology)
Source: Neuropharmacology - September 3, 2022 Category: Drugs & Pharmacology Authors: Se Jin Jeon Huiyoung Kwon Ho Jung Bae Edson Luck Gonzales Junhyeong Kim Hye Jin Chung Dong Hyun Kim Jong Hoon Ryu Chan Young Shin Source Type: research

Agmatine relieves behavioral impairments in Fragile X mice model
CONCLUSIONS: The results highlight the potential of agmatine's novel disease-ameliorating effects in FXS, which warrants further studies to ascertain whether these findings translate into clinical effects in FXS patients.PMID:36057317 | DOI:10.1016/j.neuropharm.2022.109234 (Source: Neuropharmacology)
Source: Neuropharmacology - September 3, 2022 Category: Drugs & Pharmacology Authors: Se Jin Jeon Huiyoung Kwon Ho Jung Bae Edson Luck Gonzales Junhyeong Kim Hye Jin Chung Dong Hyun Kim Jong Hoon Ryu Chan Young Shin Source Type: research