Article
Computer Science, Artificial Intelligence
Davide Di Febbo, Simona Ferrante, Marco Baratta, Matteo Luperto, Carlo Abbate, Pietro Davide Trimarchi, Fabrizio Giunco, Matteo Matteucci
Summary: In this study, a decision support system (DSS) was developed for the evaluation of the ROCF copy test. The system provided qualitative judgement for each pattern and estimated the most probable diagnosis for the patient, while identifying the main signs associated with the diagnosis. The DSS performed well in the diagnosis classification tasks and the model explanation revealed the impact of different patterns on the predictions.
EXPERT SYSTEMS WITH APPLICATIONS
(2023)
Article
Behavioral Sciences
Ramona Cardillo, Rachele Lievore, Irene C. Mammarella
Summary: The study compares visuospatial organization abilities in children and adolescents with ASD and typically developing individuals, considering the underlying visuospatial skills involved. Impairments in visuospatial organization were found in children with ASD, who differed from TD individuals in related underlying skills. These findings have implications for inspiring practitioners to develop training interventions that take into account the strengths and weaknesses of individuals with ASD in the crucial visuospatial organization abilities needed for everyday life.
Article
Psychology, Clinical
L. Tommasini, J. Bonaccorsi, E. Del Prete, S. Cintoli, C. Pagni, S. Mazzucchi, G. Palermo, R. Morganti, D. Frosini, G. Siciliano, G. Tognoni, R. Ceravolo
Summary: This study explored the role of neuropsychological markers in differentiating between Parkinson's Disease and Progressive Supranuclear Palsy. It found that specific qualitative scoring systems were useful in distinguishing between the two diseases, and proposed a regression model with high diagnostic accuracy.
CLINICAL NEUROPSYCHOLOGIST
(2023)
Article
Clinical Neurology
Young Chul Youn, Jung-Min Pyun, Nayoung Ryu, Min Jae Baek, Jae-Won Jang, Young Ho Park, Suk-Won Ahn, Hae-Won Shin, Kwang-Yeol Park, Sang Yun Kim
Summary: The study compared the performance of different drawing tests in predicting cognitive impairment using convolutional neural network algorithms, with the results showing that the CDT was more accurate in distinguishing mild and severe impairment, while the RCFT had better performance in predicting overall cognitive impairment. However, there was no significant difference between the two tests in terms of three-way classification accuracy, both showing good performance in predicting severe cognitive impairment.
ALZHEIMERS RESEARCH & THERAPY
(2021)
Article
Clinical Neurology
Alice Maier, Natalie A. A. Pride, Stephen J. C. Hearps, Nijashree Shah, Melanie Porter, Kathryn N. N. North, Jonathan M. M. Payne
Summary: Children with NF1 are at risk for cognitive difficulties, including visuospatial deficits and executive dysfunction. This study aimed to assess the overall performance of children with NF1 on the RCFT compared to unaffected siblings, and examine neuropsychological predictors of RCFT performance. Results revealed that visuospatial skills, executive abilities, ADHD symptoms, and intellectual skills predicted poorer RCFT performance, with the JLO emerging as the strongest predictor. This study provides evidence for the importance of visuospatial deficits and executive skills in understanding RCFT performance in NF1.
CHILD NEUROPSYCHOLOGY
(2023)
Article
Psychology, Clinical
Sara Garcia-Herranz, M. Carmen Diaz-Mardomingo, Juan Carlos Suarez-Falcon, Raquel Rodriguez-Fernandez, Herminia Peraita, Cesar Venero
Summary: This study aimed to provide updated normative data for commonly used tests in neuropsychological assessment applied to older Spanish adults. The normative procedure followed helps to make consistent comparisons when using these tests, improving the interpretation of data and reducing the risk of misdiagnosing cognitive impairment in older adults.
ARCHIVES OF CLINICAL NEUROPSYCHOLOGY
(2022)
Article
Neurosciences
Peiyuan Wang, Jennapher Lingo VanGilder, Nicolas Schweighofer, Sydney Y. Schaefer
Summary: This study explores the relationship between visuospatial memory and motor learning in older adults, while controlling for other factors using a standardized visuospatial memory test. The results suggest that higher visuospatial memory scores are associated with faster rates of skill acquisition and better short-term retention in older adults, after controlling for age. These associations are dependent on the level of initial skill.
HUMAN MOVEMENT SCIENCE
(2022)
Article
Public, Environmental & Occupational Health
Kirsten R. R. Panton, James P. P. Fitzpatrick, Carmela F. F. Pestell
Summary: Fetal alcohol spectrum disorder (FASD) is underdiagnosed in Australia due to a lack of trained clinicians and diagnostic services. This project aimed to increase FASD knowledge and diagnostic capacity nationwide through training clinics, diagnostic clinics, and community education sessions. The project led to a significant increase in FASD diagnoses and positive feedback from community education sessions. Participants in the training clinics showed increased knowledge and confidence in FASD diagnosis. This evaluation highlights the benefits of a coordinated approach to FASD prevention, assessment, diagnosis, and training.
FRONTIERS IN PUBLIC HEALTH
(2023)
Review
Genetics & Heredity
Danielle Sambo, David Goldman
Summary: Fetal alcohol spectrum disorder (FASD) refers to the deleterious outcomes in offspring caused by prenatal alcohol exposure (PAE), including developmental delay, intellectual disability, attention deficits, and conduct disorders. Multiple factors, such as timing, dose, and duration of PAE, as well as maternal factors like age and nutrition, contribute to the risk and severity of FASD. Studies in humans and animal models have shown that genetic factors also play a role in the expression of FASD. This article reviews the literature on the genetics of FASD, including twin studies, candidate gene studies, and genetic testing, suggesting that different genetic factors in both mothers and offspring influence the phenotypic outcomes of PAE. Further research is needed to understand the genetic mechanisms behind FASD, which may lead to early detection and intervention methods.
Article
Pediatrics
Natalie Lynette Phillips, Marcel David Zimmet, Amy Phu, Meenakshi Rattan, Yvonne Zurynski, Elizabeth J. Elliott
Summary: This study evaluated the impact of fetal alcohol spectrum disorder (FASD) on child and family functioning through a prospective survey of caregivers of 35 children with FASD. The results showed that FASD has negative effects on children's health, family functioning, and unaffected siblings, causing high levels of stress for caregivers.
ARCHIVES OF DISEASE IN CHILDHOOD
(2022)
Article
Psychology, Multidisciplinary
Jae-Gu Kang, Myung-Sun Kim
Summary: This study investigated the neuropsychological profile of college students who engage in binge drinking and found that these individuals have difficulties with verbal/non-verbal memory and executive functions, possibly due to detrimental effects on the hippocampal-prefrontal circuit.
FRONTIERS IN PSYCHOLOGY
(2022)
Review
Neurosciences
Barbara Carpita, Lavinia Migli, Ilaria Chiarantini, Simone Battaglini, Clara Montalbano, Claudia Carmassi, Ivan Mirko Cremone, Liliana Dell'Osso
Summary: This review summarizes the research on the association between fetal alcohol spectrum disorders (FASD) and autism spectrum disorder (ASD), focusing on the clinical overlaps and shared pathogenic mechanisms. The findings highlight the similarities and differences between the two disorders and emphasize the need to improve diagnosis, particularly in milder presentations and sub-syndromic traits.
Article
Multidisciplinary Sciences
Michael Widder, Luisa Mierzwa, Lina Schwerg, Henrike Schecke, Johannes Kornhuber, Polyxeni Bouna-Pyrrou, Jan Malte Bumb, Tanja Richter-Schmidinger, Bernd Lenz
Summary: The study showed that the BSI-FASD is an efficient screening tool for identifying adults with suspected FASD, contributing to improved treatment for affected individuals.
SCIENTIFIC REPORTS
(2021)
Article
Multidisciplinary Sciences
Marco A. Petilli, Roberta Daini, Francesca Lea Saibene, Marco Rabuffetti
Summary: The study implemented a novel Tablet-based assessment to analyze drawing abilities comprehensively and extracted 12 indices capturing various dimensions of drawing abilities. Principal component analysis identified spatial, procedural, and kinematic components as distinct dimensions of drawing execution, with correlational analyses validating their associations with constructional, organizational, and motor measures. Copy accuracy was found to be associated with all these aspects of drawing, showing that copying complex figures involves an interplay of multiple functions.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Izabela M. Krzyzewska, Peter Lauffer, Adri N. Mul, Liselot van der Laan, Andrew Y. F. Li Yim, Jan Maarten Cobben, Jacek Niklinski, Monika A. Chomczyk, Robert Smigiel, Marcel M. A. M. Mannens, Peter Henneman
Summary: We aimed to identify epigenetic biomarkers for Fetal Alcohol Spectrum Disorder (FASD) by analyzing genome-wide DNA methylation profiles. In a subset of severely affected individuals from our previous FASD cohort, we also investigated gene expression profiles to understand the functional effects of altered DNA methylation. We found six differentially methylated regions associated with changes in gene expression. This study provides new insights into the molecular features of FASD and opens avenues for future research into multi-omics biomarkers for diagnosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
