Article
Multidisciplinary Sciences
Dennis Vollweiter, Jasmeet Kaur Shergill, Alexandra Hilse, Gaga Kochlamazashvili, Stefan Paul Koch, Susanne Mueller, Philipp Boehm- Sturm, Volker Haucke, Tanja Maritzen
Summary: The cortico-striatal-thalamocortical loop is crucial for the expression of motor routines and habits. Mutations in the intersectin proteins have been linked to neuropsychiatric diseases such as ASD and OCD. Deletion of the intersectin proteins leads to severe ASD/OCD-like behavioral alterations and defective cortico-striatal neurotransmission. The findings provide insights into the physiological role of intersectin in countering ASD/OCD and the molecular pathomechanism behind these neuropsychiatric symptoms.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Behavioral Sciences
Molly Brady, Anna Beltramini, Gavin Vaughan, Allison R. Bechard
Summary: This study found that the ketogenic diet can reduce abnormal repetitive circling behavior in a rodent model, and this effect may be related to the striatum.
BEHAVIOURAL BRAIN RESEARCH
(2022)
Article
Behavioral Sciences
Jagadeeswaran Indumathy, April Pruitt, Nicole M. Gautier, Kaitlin Crane, Edward Glasscock
Summary: The study found that mutations related to epilepsy result in a significant reduction in repetitive behaviors but normal social interactions, while partial deletion of the Kcna1 gene leads to increased self-grooming and decreased sociability, indicating characteristics similar to autism spectrum disorder. In double-mutant mice, the mutations interact to partially normalize behaviors associated with autism spectrum disorder.
BRAIN AND BEHAVIOR
(2021)
Review
Biochemistry & Molecular Biology
Robyn P. Thom, Christopher J. McDougle
Summary: This article describes how to recognize and classify different types of repetitive thoughts and behaviors in autism spectrum disorder, clarifying which phenomena should be considered a core feature of autism spectrum disorder and which phenomena are indicative of a comorbid psychiatric disorder. Repetitive thoughts can be differentiated based on whether they are distressing and the individual's degree of insight, while repetitive behaviors can be classified based on whether they are voluntary, goal-directed/purposeful, and rhythmic.
ACS CHEMICAL NEUROSCIENCE
(2023)
Article
Psychology, Developmental
Mirko Uljarevic, Thomas W. Frazier, Booil Jo, Lawrence Scahill, Eric A. Youngstrom, Emily Spackman, Jennifer M. Phillips, Wesley Billingham, Antonio Hardan
Summary: The study aimed to validate the Dimensional Assessment of Restricted and Repetitive Behaviors (DARB), a new parent-report measure. Results showed that the DARB had good factor structure, reliability, and validity, and it can be useful in research and clinical contexts for autism spectrum disorder.
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
(2023)
Article
Psychiatry
Jessica M. Schwartzman, Zachary J. Williams, Jared K. Richards, Samantha R. Mattheiss, Katherine O. Gotham
Summary: Depression is more prevalent among autistic adults, and the insistence on sameness behavior is moderately related to depressive symptoms in this population. However, repetitive sensorimotor behaviors have only a slight impact on predicting depression. Neuroticism has a strong positive relationship with depression, completely attenuating the effect of insistence on sameness behavior. This study provides important insights into risk factors for depression in autism.
FRONTIERS IN PSYCHIATRY
(2022)
Review
Behavioral Sciences
Miguel Comparan-Meza, Ivette Vargas de la Cruz, Fernando Jauregui-Huerta, Rocio E. Gonzalez-Castaneda, Oscar Gonzalez-Perez, Alma Y. Galvez-Contreras
Summary: This study examined the biopsychological correlates of RRBs in ASD patients, exploring the etiology, continuance, and clinical evolution of these behaviors. Alterations in neurotransmission system, brain volume, growth factors, neural connectivity, behavioral inhibition, cognitive flexibility, and environmental factors were identified as key factors in the origin of RRBs, suggesting potential targets for novel therapeutic strategies.
BRAIN AND BEHAVIOR
(2021)
Review
Neurosciences
Junbin Tian, Xuping Gao, Li Yang
Summary: Autism spectrum disorder is a complex neurodevelopmental disorder characterized by deficits in social communication, social interaction, and repetitive restricted behaviors. Understanding the potential mechanisms behind these behaviors is crucial for finding new treatment options.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Psychology, Developmental
John C. Huston, Robyn P. Thom, Caitlin T. Ravichandran, Jennifer E. Mullett, Carly Moran, Jessica L. Waxler, Barbara R. Pober, Christopher J. McDougle
Summary: The study aimed to characterize repetitive phenomena in Williams syndrome (WS). Most of the WS patients exhibited at least one stereotyped behavior, and increased anxiety was associated with increased severity of obsessions.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Pediatrics
Martina Siracusano, Valentina Postorino, Assia Riccioni, Leonardo Emberti Gialloreti, Monica Terribili, Paolo Curatolo, Luigi Mazzone
Summary: Sex differences in restricted and repetitive behaviors in individuals with Autism Spectrum Disorder were investigated with no significant findings, while repetitive behaviors were negatively associated with adaptive skills in older participants regardless of sex and age, emphasizing the importance of early intervention targeting RRBs for improving adaptive skills in individuals with autism.
Article
Neurosciences
Evamaria Lanzarini, Jacopo Pruccoli, Irene Grimandi, Chiara Spadoni, Marida Angotti, Veronica Pignataro, Leonardo Sacrato, Emilio Franzoni, Antonia Parmeggiani
Summary: This study investigated the frequency and types of phonic and motor stereotypies in children with ASD, finding that 83.0% of patients exhibited phonic stereotypies, with noncommunicative vocalizations being the most common. Patients with intellectual disability showed higher numbers and variability of motor stereotypies, with specific correlations between certain phonic stereotypies and verbal abilities warranting further investigation.
Article
Biochemistry & Molecular Biology
Chuanchuan Wang, Weixuan Chen, Yishan Jiang, Xiao Xiao, Qianhui Zou, Jiarui Liang, Yu Zhao, Qianxu Wang, Tian Yuan, Rui Guo, Xuebo Liu, Zhigang Liu
Summary: Autism Spectrum Disorder (ASD) symptoms may be improved through modulation of gut microbiota. This study investigated the effects of a synbiotic treatment on an ASD-like mouse model, and found that it rectified social impairments, attenuated inflammatory cytokine expressions, protected gut barrier integrity, and altered gut microbiota composition. The synbiotic treatment elevated beneficial metabolites and upregulated genes associated with their synthesis. Overall, the synbiotic combination mitigated ASD-related social impairments through regulation of the gut-brain axis.
Article
Psychology, Developmental
Noah J. Brierley, Christina G. McDonnell, Kaitlyn M. A. Parks, Samantha E. Schulz, Tyler C. Dalal, Elizabeth Kelley, Evdokia Anagnostou, Robert Nicolson, Stelios Georgiades, Jennifer Crosbie, Russell Schachar, Xudong Liu, Ryan A. Stevenson
Summary: Restricted interests and repetitive behaviors (RRBs) are core symptoms of both autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), with similar factor structures observed in both disorders but more severe symptoms in ASD, as well as differences in the relationship with IQ.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Neurosciences
Yu-Chiao Wang, Chin-Hao Chen, Cheng-Yi Yang, Pin Ling, Kuei-Sen Hsu
Summary: This study found that a high-fat diet (HFD) worsened the autistic-like phenotypes of Autism Spectrum Disorder (ASD), resulting in increased restricted repetitive behaviors and impaired preference for social novelty. HFD also caused an increase in reactive microglia and astrocytes, as well as exacerbated reductions in dendritic complexity and spine density of hippocampal CA1 pyramidal neurons. Chronic treatment with minocycline showed potential in rescuing these behavioral and morphological deficits.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Genetics & Heredity
Valentina Bieneck, Anke Bletsch, Caroline Mann, Tim Schaefer, Hanna Seelemeyer, Njal Heroy, Jennifer Zimmermann, Charlotte Marie Pretzsch, Elke Hattingen, Christine Ecker
Summary: This study revealed significantly reduced cortical thinning in several brain regions related to autism symptoms in individuals with ASD, with these neuroanatomical differences enriched for genes associated with ASD at a genetic and transcriptomic level. Furthermore, intra-individual differences in cortical thickness correlated with the severity of repetitive behaviors within individuals with ASD.
Article
Oncology
Anna Fetta, Jacopo Pruccoli, Giacomo Biasucci, Roberto Parisi, Francesco Toni, Fraia Melchionda, Duccio M. Cordelli
Summary: We report a case of HM-like attacks in a DLGNT patient and discuss the pathogenesis of this case, as well as previously reported cases with similar symptoms involving the leptomeninges.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2022)
Review
Genetics & Heredity
Luca Bergonzini, Jacopo Pruccoli, Ilaria Pettenuzzo, Rosa Pugliano, Luca Soliani, Anna Fetta, Duccio Maria Cordelli
Summary: 《》This article reviews the literature evidence on the clinical features, treatments, and outcomes of status epilepticus in patients with chromosomal disorders associated with epilepsy. It highlights the frequent occurrence of non-convulsive status epilepticus in Angelman Syndrome and Ring 20 Syndrome. The article also emphasizes the lack of specific therapies for status epilepticus in these patients and calls for further research to better understand their clinical features, treatment options, and outcomes.
Article
Psychiatry
Jacopo Pruccoli, Antonia Parmeggiani
Summary: This study aims to provide naturalistic data on early onset anorexia nervosa (EOAN) and found that EOAN patients received specific interventions and achieved better outcomes at discharge and follow-up compared to adolescent-onset AN (AOAN) patients.
EARLY INTERVENTION IN PSYCHIATRY
(2023)
Article
Pediatrics
Francesca Chiavarino, Jacopo Pruccoli, Ilaria Cecconi, Nicolo Vancini, Duccio M. Cordelli, Antonia Parmeggiani
Summary: This article describes the association between neurofibromatosis type 1 (NF1) and feeding and eating disorders (FED) in five patients. The onset of eating disorder symptoms occurred during the developmental age and was characterized by food intake restriction and physical hyperactivity. Further research is needed to screen NF1 populations for the presence of FED.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
(2023)
Article
Clinical Neurology
Jacopo Pruccoli, Luca Bergonzini, Ilaria Pettenuzzo, Antonia Parmeggiani
Summary: This study reports the use of risperidone in a group of children and adolescents with feeding and eating disorders, specifically anorexia nervosa. The results indicate that risperidone has a certain effectiveness in treating anorexia nervosa and is well-tolerated.
JOURNAL OF PSYCHOPHARMACOLOGY
(2023)
Article
Pharmacology & Pharmacy
Jacopo Pruccoli, Antonia Parmeggiani
Summary: This observational study aimed to investigate the use of mood stabilizers in children and adolescents with anorexia nervosa. The study found no significant difference in BMI and psychopathology between patients treated with mood stabilizers and those not treated, as well as no significant difference in re-hospitalization rates.
PHARMACOPSYCHIATRY
(2023)
Article
Psychology, Multidisciplinary
Jacopo Pruccoli, Giulia Guardi, Angela La Tempa, Beatrice Valeriani, Francesca Chiavarino, Antonia Parmeggiani
Summary: The impact of psychiatric comorbidities on the diagnosis and treatment of feeding and eating disorders (FEDs) is an important topic of research. However, there is a lack of studies investigating the developmental paths of individuals with comorbid FEDs and neurodevelopmental disorders (NDDs). This study reports on 11 cases of children and adolescents with comorbid FEDs and NDDs, examining the neuropsychological, psychopathological, and nutritional developmental pathways. It was found that the onset of FED-related psychopathology was often preceded by altered neurodevelopmental features leading to specific NDD diagnoses. The presence of NDDs influenced the diagnoses and treatments of FEDs, impacting socio-relational and emotional factors as well as access to FED-targeted treatments. Further longitudinal studies are needed to assess the experiences of care and neurodevelopmental pathways of children with comorbid FEDs and specific NDDs.
BEHAVIORAL SCIENCES
(2023)
Review
Psychiatry
Jacopo Pruccoli, Antonia Parmeggiani, Duccio Maria Cordelli, Marcello Lanari
Summary: Adrenergic dysregulation may be involved in the pathophysiology of FED. More research is needed to comprehend underlying mechanisms and treatment implications.
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
(2023)
Article
Pediatrics
Jacopo Pruccoli, Rosa Pugliano, Beatrice Pranzetti, Antonia Parmeggiani
Summary: This study examines premenarchal anorexia nervosa (AN) patients and compares them to postmenarchal AN patients. The study found differences between premenarchal and postmenarchal patients in terms of depression levels, luteinizing hormone levels, and antidepressant treatment. The study also identified predictive factors for rehospitalization at 1-year follow-up.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Pediatrics
Jacopo Pruccoli, Carlotta Biagi, Laura Andreozzi, Anna Fetta, Leonardo Sacrato, Carlotta Tartarini, Duccio Maria Cordelli, Marcello Lanari
Summary: Somatic symptom disorders (SSDs) are clinical conditions with various physical symptoms without organic support. This study aimed to investigate the psychopathological and clinical features of children with SSD during the SARS-CoV-2 pandemic. The study analyzed data from two historical cohorts of children admitted to an Italian hospital before and after the pandemic. The results highlighted specific clinical features in children with SSD during the pandemic.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Pediatrics
Jacopo Pruccoli, Francesca Chiavarino, Camilla Nanni, Antonia Parmeggiani
Summary: Recent research has found that general psychopathological symptoms play a role in the natural history of mental health conditions, such as anorexia nervosa in adults and obesity in children. However, there is a lack of literature that assesses general psychopathological symptoms in young patients with anorexia nervosa and their potential impact on long-term outcomes.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Psychiatry
Jacopo Pruccoli, Ilaria Pettenuzzo, Antonia Parmeggiani
Summary: This study focused on children and adolescents with treatment-resistant anorexia nervosa (TR-AN) and highlighted their clinical and psychopathological characteristics, finding that these patients were older, had higher eating disorder scores, and were less frequently fed with a nasogastric tube compared to good-outcome controls.
EATING AND WEIGHT DISORDERS-STUDIES ON ANOREXIA BULIMIA AND OBESITY
(2022)
Article
Pediatrics
Salvatore Ferdinando Aruta, Jacopo Pruccoli, Nicole Bandini, Paola Rucci, Antonia Parmeggiani
Summary: The prevalence of Specific Learning Disorder (SLD) is higher among patients with Anorexia Nervosa (AN) compared to the Italian reference values. Comorbidity with SLD is more frequent in male patients. A diagnosis of SLD is not significantly associated with any specific ED diagnosis or psychiatric comorbidity in general.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Article
Psychiatry
Jacopo Pruccoli, Angela La Tempa, Valentina Francia, Paola Gualandi, Elisabetta Malaspina, Filomena Moscano, Francesca Rossi, Leonardo Sacrato, Paola Rucci, Antonia Parmeggiani
Summary: This study aimed to compare treatment and clinical outcomes of first-generation and second-generation immigrant youth with Anorexia Nervosa. Results showed that first-generation immigrants had better improvement in weight and required less hospitalization compared to second-generation immigrants.
RIVISTA DI PSICHIATRIA
(2022)
Article
Psychiatry
Jacopo Pruccoli, Antonia Parmeggiani
Summary: In this case series study, 14 children and adolescents with AN were treated with valproate as an adjunctive therapy. The majority of patients showed improvement in target symptoms after valproate administration, with minor adverse drug reactions. Further research in larger populations and controlled studies is needed to verify these findings.
EATING AND WEIGHT DISORDERS-STUDIES ON ANOREXIA BULIMIA AND OBESITY
(2022)