Behavioural and cognitive-behavioural interventions for outwardly directed aggressive behaviour in people with intellectual disabilities
CONCLUSIONS: There is moderate-certainty evidence that cognitive-behavioural approaches such as anger management and PBS may reduce outwardly directed aggressive behaviour in the short term but there is less certainty about the evidence in the medium and long term, particularly in relation to other outcomes such as quality of life. There is some evidence to suggest that combining more than one intervention may have cumulative benefits. Most studies were small and there is a need for larger, robust randomised controlled trials, particularly for interventions where the certainty of evidence is very low. More trials are neede...
Source: Cochrane Database of Systematic Reviews - February 6, 2023 Category: General Medicine Authors: David Prior Soe Win Angela Hassiotis Ian Hall Michele A Martiello Afia K Ali Source Type: research
Behavioural and cognitive-behavioural interventions for outwardly directed aggressive behaviour in people with intellectual disabilities
CONCLUSIONS: There is moderate-certainty evidence that cognitive-behavioural approaches such as anger management and PBS may reduce outwardly directed aggressive behaviour in the short term but there is less certainty about the evidence in the medium and long term, particularly in relation to other outcomes such as quality of life. There is some evidence to suggest that combining more than one intervention may have cumulative benefits. Most studies were small and there is a need for larger, robust randomised controlled trials, particularly for interventions where the certainty of evidence is very low. More trials are neede...
Source: Cochrane Database of Systematic Reviews - February 6, 2023 Category: General Medicine Authors: David Prior Soe Win Angela Hassiotis Ian Hall Michele A Martiello Afia K Ali Source Type: research
FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission
by Shannon N. Leahy, Chunzhu Song, Dominic J. Vita, Kendal Broadie
Noonan syndrome (NS) and NS with multiple lentigines (NSML) cognitive dysfunction are linked to SH2 domain-containing protein tyrosine phosphatase-2 (SHP2) gain-of-function (GoF) and loss-of-function (LoF), respectively. InDrosophila disease models, we find both SHP2 mutations from human patients andcorkscrew (csw) homolog LoF/GoF elevate glutamatergic transmission. Cell-targeted RNAi and neurotransmitter release analyses reveal a presynaptic requirement. Consistently, all mutants exhibit reduced synaptic depression during high-frequency stimulation. Both ...
Source: PLoS Biology: Archived Table of Contents - January 26, 2023 Category: Biology Authors: Shannon N. Leahy Source Type: research
3q29 microduplication syndrome: New evidence for the refinement of the critical region
CONCLUSION: To the best of our knowledge, one of the family members here analyzed is the second reported case of a patient carrying a small 3q29 microduplication including only DGL1 and BDH1 genes and without any additional genetic aberration. The recognition of the clinical spectrum in patients with the critical region of overlap associated with the 3q29 duplication syndrome should prove valuable for predicting outcomes and providing more informed genetic counseling to patients with duplications in this region.PMID:36691815 | DOI:10.1002/mgg3.2130 (Source: Molecular Medicine)
Source: Molecular Medicine - January 24, 2023 Category: Molecular Biology Authors: Alessia Bauleo Vincenza Pace Alberto Montesanto Laura De Stefano Rossella Brando Domenica Puntorieri Luca Cento Maurizio Genuardi Elena Falcone Source Type: research
3q29 microduplication syndrome: New evidence for the refinement of the critical region
CONCLUSION: To the best of our knowledge, one of the family members here analyzed is the second reported case of a patient carrying a small 3q29 microduplication including only DGL1 and BDH1 genes and without any additional genetic aberration. The recognition of the clinical spectrum in patients with the critical region of overlap associated with the 3q29 duplication syndrome should prove valuable for predicting outcomes and providing more informed genetic counseling to patients with duplications in this region.PMID:36691815 | DOI:10.1002/mgg3.2130 (Source: Molecular Medicine)
Source: Molecular Medicine - January 24, 2023 Category: Molecular Biology Authors: Alessia Bauleo Vincenza Pace Alberto Montesanto Laura De Stefano Rossella Brando Domenica Puntorieri Luca Cento Maurizio Genuardi Elena Falcone Source Type: research
3q29 microduplication syndrome: New evidence for the refinement of the critical region
ConclusionTo the best of our knowledge, one of the family members here analyzed is the second reported case of a patient carrying a small 3q29 microduplication including onlyDGL1 andBDH1 genes and without any additional genetic aberration. The recognition of the clinical spectrum in patients with the critical region of overlap associated with the 3q29 duplication syndrome should prove valuable for predicting outcomes and providing more informed genetic counseling to patients with duplications in this region. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 24, 2023 Category: Genetics & Stem Cells Authors: Alessia Bauleo,
Vincenza Pace,
Alberto Montesanto,
Laura De Stefano,
Rossella Brando,
Domenica Puntorieri,
Luca Cento,
Maurizio Genuardi,
Elena Falcone Tags: CLINICAL REPORT Source Type: research
Proteome profiling of the prefrontal cortex of Fmr1 knockout mouse reveals enhancement of complement and coagulation cascades
This study used a TMT-labeled proteomic analysis to identify a protein profile of the PFC in the Fmr1 knockout mouse. A total of 5886 proteins were identified in the PFC with 100 differentially abundant proteins (DAPs) in response to FMRP deficiency. Bioinformatical analyses showed that these DAPs were mostly enriched in immune system, extracellular part and complement and coagulation cascades. The complement and coagulation cascades include 6 upregulated proteins (SERPING1, C1QA, C3, FGA, FGB and FGG), which are associated with fibrin degradation, cell lysis, degranulation chemotaxis and phagocytosis linked to activation ...
Source: Journal of Proteomics - January 16, 2023 Category: Biochemistry Authors: Mei-Mei Gao Hang Shi Hua-Juan Yan Yue-Sheng Long Source Type: research
Proteome profiling of the prefrontal cortex of Fmr1 knockout mouse reveals enhancement of complement and coagulation cascades
This study used a TMT-labeled proteomic analysis to identify a protein profile of the PFC in the Fmr1 knockout mouse. A total of 5886 proteins were identified in the PFC with 100 differentially abundant proteins (DAPs) in response to FMRP deficiency. Bioinformatical analyses showed that these DAPs were mostly enriched in immune system, extracellular part and complement and coagulation cascades. The complement and coagulation cascades include 6 upregulated proteins (SERPING1, C1QA, C3, FGA, FGB and FGG), which are associated with fibrin degradation, cell lysis, degranulation chemotaxis and phagocytosis linked to activation ...
Source: Journal of Proteomics - January 16, 2023 Category: Biochemistry Authors: Mei-Mei Gao Hang Shi Hua-Juan Yan Yue-Sheng Long Source Type: research
Impaired dendritic spike generation in the Fragile X prefrontal cortex is due to loss of dendritic sodium channels
This article is protected by copyright. All rights reserved.PMID:36625320 | DOI:10.1113/JP283311 (Source: The Journal of Physiology)
Source: The Journal of Physiology - January 10, 2023 Category: Physiology Authors: Federico Brandalise Brian E Kalmbach Erik P Cook Darrin H Brager Source Type: research
Impaired dendritic spike generation in the Fragile X prefrontal cortex is due to loss of dendritic sodium channels
This article is protected by copyright. All rights reserved.PMID:36625320 | DOI:10.1113/JP283311 (Source: The Journal of Physiology)
Source: The Journal of Physiology - January 10, 2023 Category: Physiology Authors: Federico Brandalise Brian E Kalmbach Erik P Cook Darrin H Brager Source Type: research
Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment
AbstractMultiple lines of evidence suggest a central role for the endocannabinoid system (ECS) in the neuronal development and cognitive function and in the pathogenesis of fragile X syndrome (FXS). This review describes the ECS, its role in the central nervous system, how it is dysregulated in FXS, and the potential role of cannabidiol as a treatment for FXS. FXS is caused by deficiency or absence of the fragile X messenger ribonucleoprotein 1 (FMR1) protein, FMRP, typically due to the presence of>200 cytosine, guanine, guanine sequence repeats leading to methylation of theFMR1 gene promoter. The absence of FMRP, follo...
Source: Journal of Neurodevelopmental Disorders - January 9, 2023 Category: Neurology Source Type: research
Comparison of Linguistic Error Production in Conversational Language Among Boys With Fragile X Syndrome + Autism Spectrum Disorder and Autistic Boys
CONCLUSIONS: These findings suggest that omissions may be a unique grammatical marker associated with the ASD phenotype. Further examination of omissions across diagnostic groups would aid in clarifying the specificity of omissions in the language phenotype of ASD.PMID:36599155 | DOI:10.1044/2022_JSLHR-22-00078 (Source: Journal of speech, language, and hearing research : JSLHR)
Source: Journal of speech, language, and hearing research : JSLHR - January 4, 2023 Category: Speech-Language Pathology Authors: Nell Maltman Elizabeth Hilvert Laura Friedman Audra Sterling Source Type: research
Comparison of Linguistic Error Production in Conversational Language Among Boys With Fragile X Syndrome + Autism Spectrum Disorder and Autistic Boys
CONCLUSIONS: These findings suggest that omissions may be a unique grammatical marker associated with the ASD phenotype. Further examination of omissions across diagnostic groups would aid in clarifying the specificity of omissions in the language phenotype of ASD.PMID:36599155 | DOI:10.1044/2022_JSLHR-22-00078 (Source: Journal of speech, language, and hearing research : JSLHR)
Source: Journal of speech, language, and hearing research : JSLHR - January 4, 2023 Category: Speech-Language Pathology Authors: Nell Maltman Elizabeth Hilvert Laura Friedman Audra Sterling Source Type: research
GSE216875 Reduced LYNX1 and epilepsy phenotype-related changes in transcriptome of human iPSC-derived neural progenitors modeling fragile X syndrome
Contributors : Karo Talvio ; Rimante Minkeviciene ; Padraic Corcoran ; Maija Castr énSeries Type : Expression profiling by arrayOrganism : Homo sapiensTranscriptome analysis of RNA samples collected from human control and FXS iPS cell-derived neural progenitors at day 1 and day 7 of differentiationLack of fragile X mental retardation protein results in fragile X syndrome (FXS), which is the most common inherited intellectual disability syndrome and serves as an excellent model disease to study molecular mechanisms behind neuropsychiatric comorbidities. We compared the transcriptomes of human neural progenitors (NPCs) ...
Source: GEO: Gene Expression Omnibus - December 31, 2022 Category: Genetics & Stem Cells Tags: Expression profiling by array Homo sapiens Source Type: research
Genes, Vol. 14, Pages 87: Drosophila melanogaster as a Model to Study Fragile X-Associated Disorders
Dragana Protic
Fragile X syndrome (FXS) is a global neurodevelopmental disorder caused by the expansion of CGG trinucleotide repeats (≥200) in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene. FXS is the hallmark of Fragile X-associated disorders (FXD) and the most common monogenic cause of inherited intellectual disability and autism spectrum disorder. There are several animal models used to study FXS. In the FXS model of Drosophila, the only ortholog of FMR1, dfmr1, is mutated so that its protein is missing. This model has several relevant phenotypes, including defects in the circadian output pathw...
Source: Genes - December 28, 2022 Category: Genetics & Stem Cells Authors: Jelena Trajkovi ć Vedrana Makevic Milica Pesic Sofija Pavkovi ć-Lučić Sara Milojevic Smiljana Cvjetkovic Randi Hagerman Dejan B. Budimirovic Dragana Protic Tags: Review Source Type: research
