Article
Multidisciplinary Sciences
Ha Eun Kong, Junghwa Lim, Alexander Linsalata, Yunhee Kang, Indranil Malik, Emily G. Allen, Yiqu Cao, Lisa Shubeck, Rich Johnston, Yanting Huang, Yanghong Gu, Xiangxue Guo, Michael E. Zwick, Zhaohui Qin, Thomas S. Wingo, Jorge Juncos, David L. Nelson, Michael P. Epstein, David J. Cutler, Peter K. Todd, Stephanie L. Sherman, Stephen T. Warren, Peng Jin
Summary: This study identified Prosbeta5 (PSMB5) as a candidate genetic modifier for FXTAS using a Drosophila model. Knockdown of PSMB5 suppressed CGG-associated neurodegeneration in flies and cells. Additionally, an expression quantitative trait locus variant in PSMB5 was associated with delayed onset of FXTAS in human carriers. These findings suggest a therapeutic strategy for FXTAS by targeting PSMB5.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Genetics & Heredity
Ramkumar Aishworiya, Dragana Protic, Si Jie Tang, Andrea Schneider, Flora Tassone, Randi Hagerman
Summary: This study identified a high prevalence of fragile X-associated neurodevelopmental disorders (FXAND) in a sample of young individuals with fragile X premutation carrier state (PM). The presence of FXAND and early recognition of associated symptoms may facilitate timely and appropriate care for PM individuals.
Article
Clinical Neurology
Jessica Famula, Emilio Ferrer, Randi J. Hagerman, Flora Tassone, Andrea Schneider, Susan M. Rivera, David Hessl
Summary: Carriers of the FMR1 premutation have an increased risk of developing FXTAS, a neurodegenerative disease characterized by intention tremor, ataxia, and cognitive decline. Longitudinal study showed that FMR1 premutation carriers exhibited greater rates of decline in visual working memory, motor dexterity, inhibitory control, and manual movement speed. The findings suggest that executive function decline and subtle motor changes may precede and track with the emergence of FXTAS symptoms.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2022)
Article
Biochemistry & Molecular Biology
Marwa Zafarullah, Jie Li, Michelle R. Salemi, Brett S. Phinney, Blythe P. Durbin-Johnson, Randi Hagerman, David Hessl, Susan M. Rivera, Flora Tassone
Summary: FXTAS is a neurodegenerative disorder associated with the FMR1 premutation. By analyzing the proteome of premutation carriers, researchers have identified differentially expressed proteins and dysregulated metabolic pathways associated with FXTAS. This provides clues for early diagnosis, development, and progression of FXTAS, as well as the study of related pathways.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Psychiatry
Marwa Zafarullah, Blythe Durbin-Johnson, Emily S. Fourie, David R. Hessl, Susan M. Rivera, Flora Tassone
Summary: FXTAS is a neurodegenerative disorder that affects movement and cognition in carriers of a premutation allele in the FMR1 gene. This study aimed to investigate the correlation between brain changes and metabolic biomarkers in individuals with FXTAS, finding differential metabolite levels between healthy controls and premutation groups. These metabolites suggest potential targets for personalized therapeutic development.
FRONTIERS IN PSYCHIATRY
(2021)
Review
Genetics & Heredity
Nattaporn Tassanakijpanich, Randi J. Hagerman, Juthamas Worachotekamjorn
Summary: FXS is caused by mutations in the FMR1 gene, with carriers possibly exhibiting a premutation. Carriers of the premutation may experience various health issues, including neuropsychiatric disorders and ovarian dysfunction. Physicians need to recognize these problems and provide appropriate management.
Article
Biology
Osnat Segal, Tamar Kowal, Yonit Banet-Levi, Lidia V. Gabis
Summary: This study is among the first to investigate executive functions and phonological memory in females with the Fragile X premutation. The results showed that females carrying the premutation of the FMR1 gene reported lower executive functions compared to the control group in the BRIEF questionnaire. Additionally, a relationship was found between the number of CGG sequence repeats and nonword repetitions and forward digit span.
Article
Genetics & Heredity
Bonnie Poteet, Nadia Ali, Cecelia Bellcross, Stephanie L. Sherman, Whitney Espinel, Heather Hipp, Emily G. Allen
Summary: This study aimed to identify barriers and facilitators to receiving a FXPOI diagnosis and follow-up care. Interviews revealed that FXPOI patients often face issues such as lack of clinician awareness, absence of clear clinical treatment guidelines, and difficulty finding centralized sources of care.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Clinical Neurology
Maria Jimena Salcedo-Arellano, Jun Yi Wang, Yingratana A. McLennan, Mai Doan, Ana Maria Cabal-Herrera, Sara Jimenez, Marisol W. Wolf-Ochoa, Desiree Sanchez, Pablo Juarez, Flora Tassone, Blythe Durbin-Johnson, Randi J. Hagerman, Veronica Martinez-Cerdeno
Summary: The study aimed to analyze the presence of cerebral microbleeds in patients with fragile X-associated tremor/ataxia syndrome and investigate possible causes for these microbleeds. The results showed an increased number of cerebral microbleeds in the brains of individuals with fragile X-associated tremor/ataxia syndrome, indicating cerebrovascular dysfunction. Additionally, a suggestive association between the presence of amyloid beta in capillaries and disease progression rate was found.
MOVEMENT DISORDERS
(2021)
Article
Neurosciences
Carly Moser, Lyndsay Schmitt, Joseph Schmidt, Amanda Fairchild, Jessica Klusek
Summary: This study aimed to investigate the oculomotor response inhibition skills in women with the FMR1 premutation, finding that these women exhibited deficiencies in response inhibition compared to controls. The longer response latency associated with older age in the FMR1 premutation group was predictive of fall risk. Clinical prevention efforts to decrease and delay age-related executive decline in middle-aged women with the FMR1 premutation are supported based on the findings.
BRAIN AND COGNITION
(2021)
Article
Psychiatry
Sarah J. White, Denise Gerber, Romina D. Sanchez Hernandez, Anthonia Efiannayi, Ishita Chowdhury, Hannah Partington, Joanna F. Moss
Summary: Research on women with the fragile-X premutation has shown that they have an increased risk for autistic traits and anxiety, which is specifically related to the presence of the premutation and not fully explained by maternal status or the stress of caring for children with neurodevelopmental disorders.
BRITISH JOURNAL OF PSYCHIATRY
(2021)
Review
Clinical Neurology
Ramkumar Aishworiya, Dragana Protic, Randi Hagerman
Summary: There is increasing recognition of the heterogeneity of origin of cases of autism spectrum disorder (ASD), with genetic etiology identified in 20-40% of cases. The Fragile X premutation state is a newly discovered disease state associated with various disorders, including ASD, and understanding molecular mechanisms may facilitate targeted treatments in the future.
JOURNAL OF NEUROLOGY
(2022)
Review
Psychiatry
Andrea Elias-Mas, Maria Isabel Alvarez-Mora, Conxita Caro-Benito, Laia Rodriguez-Revenga
Summary: FMR1 premutation carriers are at risk of developing neurodegenerative diseases and ovarian dysfunction, with an increasing number of reports on psychiatric disorders in recent years. Neuroimaging studies show that abnormalities in the amygdala and hippocampus are associated with neuropsychiatric disorders in adult FMR1 premutation carriers. FMRP may play a key role in the pathophysiology of psychiatric symptoms in this population.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Cell Biology
Jun Yi Wang, Gerard J. Sonico, Maria Jimena Salcedo-Arellano, Randi J. Hagerman, Veronica Martinez-Cerdeno
Summary: We conducted a postmortem MRI study of FXTAS to investigate cerebrovascular disease, brain atrophy, and iron content, and found that both ischemic and hemorrhagic brain damage may occur in FXTAS, with different characteristics. The former is marked by demyelination/iron depletion and atrophy, while the latter is characterized by intracranial hemorrhage (ICH) and iron accumulation in basal ganglia.
Article
Genetics & Heredity
Emily Graves Allen, Krista Charen, Heather S. Hipp, Lisa Shubeck, Ashima Amin, Weiya He, Sarah L. Nolin, Anne Glicksman, Nicole Tortora, Bonnie McKinnon, Katharine E. Shelly, Stephanie L. Sherman
Summary: The study revealed that women with 70-100 CGG repeats are at the highest risk for FXPOI, with those having 85-89 repeats having the highest risk; notably, women with 120 repeats did not show a significantly increased risk for FXPOI compared to those with <45 repeats.
GENETICS IN MEDICINE
(2021)
Article
Psychology, Developmental
Hannah E. Kirk, Megan Spencer-Smith, Joshua F. Wiley, Kim M. Cornish
Summary: This study found that classroom-based attention training can be beneficial in reducing inattention and hyperactivity in primary school children, but may not lead to improvements in cognitive or academic skills.
JOURNAL OF ATTENTION DISORDERS
(2021)
Article
Clinical Neurology
Peter A. J. Fanning, Laura Sparaci, Cheryl Dissanayake, Darren R. Hocking, Giacomo Vivanti
Summary: Functional play is crucial for developing symbolic play and social communication skills, yet it is understudied in children with developmental disorders like Autism Spectrum Disorder (ASD) and Williams syndrome (WS). This study found significant differences in the quantity of functional play in children with ASD and WS compared to typically developing children, with functional play behavior being associated with intellectual and adaptive function in children with WS but not ASD. These results highlight the importance of intervention strategies focusing on functional play for improving developmental outcomes in children with ASD and WS.
CHILD NEUROPSYCHOLOGY
(2021)
Review
Behavioral Sciences
Simon A. Moss, Duygu Serbetci, Kerry O'Brien, Nektarios Alexi
Summary: The study aims to construct an intervention that combines all the validated features of interventions that address the psychological barriers to weight loss. By analyzing relevant research articles, extracting practical recommendations, integrating and organizing them, a multi-featured intervention was generated.
BEHAVIORAL MEDICINE
(2022)
Article
Psychology, Clinical
Monika Coceski, Darren R. Hocking, Susan M. Reid, Hisham M. Abu-Rayya, Dinah S. Reddihough, Jacquie Wrennall, Robyn Stargatt
Summary: This study aimed to examine the impact of subtests requiring fine motor responses on measures of intellectual ability and compare different assessment methods for cognitive abilities in adolescents with cerebral palsy. Results showed that more participants were able to respond successfully to tests on Q-interactive compared to traditional methods, with slightly better performance. The Traditional method underestimated FSIQ compared to alternative methods, with the most pronounced difference observed in adolescents with more severe CP.
CLINICAL NEUROPSYCHOLOGIST
(2022)
Article
Social Work
Gary Robinson, Simon Moss, Yomei Jones
Summary: Papua New Guinea is a low-income country with high rates of family violence and child maltreatment. A research team was commissioned to develop a parenting programme and conducted a pre- and post-evaluation in remote provinces. The programme showed significant reductions in verbal abuse, corporal punishment, and overall harsh parenting, leading to improvements in family well-being.
INTERNATIONAL SOCIAL WORK
(2023)
Article
Engineering, Biomedical
Darren R. Hocking, Adel Ardalan, Hisham M. Abu-Rayya, Hassan Farhat, Anna Andoni, Rhoshel Lenroot, Stan Kachnowski
Summary: This study explored the feasibility and potential efficacy of a custom-designed VR game-based intervention for improving gross motor skills in youth with ASD. Although the intervention showed limited benefits in improving motor skills, the use of low-cost motion capture in VR-based motor training was found to be feasible in children with ASD.
JOURNAL OF NEUROENGINEERING AND REHABILITATION
(2022)
Article
Agriculture, Dairy & Animal Science
Eileen K. Tuite, Simon A. Moss, Clive J. Phillips, Samantha J. Ward
Summary: Zookeepers often face challenges in implementing enrichment practices, such as uncertainty about the effectiveness of certain methods and concerns about visitor perceptions. This can lead to the enrichment and stimulation of animals not being seen as important or urgent, resulting in deferral or neglect. Greater clarity and transparency on enrichment objectives could help address these challenges and improve animal welfare in zoos.
Article
Pediatrics
Monika Coceski, Robyn Stargatt, Sarah Sherwell, Hisham M. Abu-Rayya, Susan M. Reid, Dinah S. Reddihough, Jacquie Wrennall, Darren R. Hocking
Summary: At the group level, nonverbal IQ scores declined significantly, while at the individual level, RCI indicated that nine children showed clinically significant decline in Full Scale IQ (FSIQ) and 11 in nonverbal IQ. Declines in FSIQ were related to a history of seizures, while declines in nonverbal IQ were associated with initial IQ levels.
Correction
Engineering, Biomedical
Darren R. Hocking, Adel Ardalan, Hisham M. Abu-Rayya, Hassan Farhat, Anna Andoni, Rhoshel Lenroot, Stan Kachnowski
JOURNAL OF NEUROENGINEERING AND REHABILITATION
(2022)
Article
Education, Special
N. Shields, N. Mizzi, K. Buhlert-Smith, A. Strydom, L. Prendergast, D. R. Hocking
Summary: The aim of the study was to determine the effect of regular exercise on cognitive functioning in young people with Down syndrome. The study found that participation in a 12-week exercise programme improved everyday executive functions in young people with Down syndrome.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
(2022)
Article
Environmental Sciences
Donelle Cross, Marilynne N. Kirshbaum, Lolita Wikander, Jing-Yu (Benjamin) Tan, Simon Moss, Daniel Gahreman
Summary: This comparative pre-post intervention study examined the feasibility and benefits of Kegel exercises in incontinent women before resistance training to reduce the risk of stress urinary incontinence (SUI). The results showed that Kegel exercises preceding resistance training significantly reduced SUI. Average pelvic floor muscle strength improved and there was a positive correlation between pelvic floor muscle strength and SUI. Additionally, participants in the Kegel exercise plus resistance training group demonstrated an increase in muscle mass and a decrease in fat mass.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2023)
Article
Neurosciences
Darren R. R. Hocking, Danuta Z. Z. Loesch, Paige Stimpson, Flora Tassone, Anna Atkinson, Elsdon Storey
Summary: The sequence expansion of the FMR1 gene is associated with the development of FXTAS, a neurodegenerative disorder. This study found that adult males with FXTAS had significant correlations between motor impairment, cognitive decline, and psychiatric symptoms. These relationships were also related to the size of the genetic expansion.
Article
Psychology, Developmental
Darren R. Hocking, Xiaoyun Sun, Kristina Haebich, Hayley Darke, Kathryn N. North, Giacomo Vivanti, Jonathan M. Payne
Summary: This study examined the habituation to repetitive information in children with Neurofibromatosis Type 1 (NF1) and found that they exhibited atypical habituation similar to Autism Spectrum Disorder (ASD). The slower habituation in NF1 was associated with elevated ASD traits, indicating possible abnormal attentional networks in both disorders.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Business
Steven J. Greenland, Robert Gill, Simon Moss, David Low
Summary: Unhealthy product marketing contributes to non-communicable diseases, and more research is needed to understand strategies that lead to increased consumption of these products. This study examined retail data on leading brands in unhealthy product categories, including junk food, alcohol, and tobacco, and compared them to non-harmful products. The findings revealed common strategies used by unhealthy brands, such as dynamic price promotion and volume discounting, which were more prevalent than in non-harmful brands. These findings highlight the need for policy recommendations to control unregulated price-promotion variables.
JOURNAL OF STRATEGIC MARKETING
(2023)
Article
Education & Educational Research
Margaret T. Lambert, Sue E. Smith, Simon Moss, Marilynne N. Kirshbaum
Summary: This study investigated the effectiveness of using EFT as a class exercise to improve student wellbeing. The results showed that EFT could reduce student anxiety and benefit both students and teachers in improving their overall health.
AUSTRALIAN JOURNAL OF TEACHER EDUCATION
(2022)