Rita Barone
Biographic Data
| ID | 204532 |
|---|---|
| NAME | Rita Barone |
| GIVEN NAMES | Rita |
| FAMILY NAME | Barone |
| SIGNATURE | BARONE R |
| AFFILIATIONS | University of Catania |
| ORCID | 0000-0001-6302-2686 |
| VERIFIED | Yes |
| TOTAL WORKS | 11 |
| TOTAL CITATIONS | 0 |
| AUTHOR COUNT | 11 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 2004 |
| LATEST PUBLICATION YEAR | 2026 |
| H-INDEX | 0 |
De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder
This study identifies shared neurobehavioral features of idiopathic Autism Spectrum Disorder (ASD) associated with de novo LoF mutations in ARHGAP32 and reinforces the involvement of RhoGAP family proteins in neurodevelopmental disorders. Taken together with previous evidence, our data support the role of ARHGAP32 as a candidate gene for ASD, expanding the genetic spectrum
Genetic architecture and clinical features of Tourette syndrome in a child and adolescent cohort: An explorative clinical exome-based study
These findings support a dual model of genetic susceptibility in TS, where rare, high-impact exomic variants may contribute to more severe tics, cognitive impairment, and syndromic presentations, whereas polygenic inheritance mostly occurs in familial and milder forms. Incorporating exome sequencing into diagnostic workflows may enhance etiological classification and inform precision-medicine strategies for TS
Clinical and Behavioral Correlates of Blood Acylcarnitine Profiles in Children with Autism Spectrum Disorder: A Cross-Sectional Analysis
Background/Objectives : Autism Spectrum Disorder (ASD) etiology is complex, involving genetics and environmental factors, and associated with impaired energy metabolism. Mitochondrial fatty acid oxidation (mFAO) is instrumental to energy production through the oxidation of acylcarnitines (ACs). We performed a comprehensive investigation of blood AC profiles in a pediatric ASD cohort, aiming to define ASD subgroups based on AC profiles and link th…
Head circumference growth in children with Autism Spectrum Disorder: Trend and clinical correlates in the first five years of life
In this study HC size from birth to 5 years links to accelerated HC growth rate as early as the first 6 months of age in children with ASD and macrocephaly, preceding the onset and diagnosis of ASD. We found that in early childhood, children with ASD-M may exhibit some advantages in language and social communication and emotional skills without differences in autism severity, when compared with age-matched normocephalic ASD children. Longitudinal…
Sensory phenomena in children with Tourette syndrome or autism spectrum disorder
SP are a frequently reported characteristic both of ASD and TS. Future studies are needed to better evaluate the differences on their phenomenology in patients with TS and ASD
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample
Biological bases of autism spectrum disorder (ASD) include both genetic and epigenetic causes. Patients with ASD show anomalies in the profile of certain plasma amino acids, including neuroactive amino acids. Monitoring plasma amino acids may be relevant for patient care and interventions. We evaluated the plasma amino acid profile in samples extracted from dry blood spots by electrospray ionization-tandem mass spectrometry. Fourteen amino acids …
A Randomized Controlled Trial Comparing Videoconference vs. Face-to-Face Delivery of Behavior Therapy for Youths With Tourette Syndrome in the Time of Covid-19
Online remote behavior therapy is a promising tool for behavioral therapies for patients with Tourette Syndrome and may represents an alternative treatment option
Psychometric Properties of the Italian Version of the Assessment of Identity Development in Adolescence (Aida)
Identity diffusion is a core element of the borderline personality organization. A valid and reliable assessment tool is needed to identify at-risk adolescents in the Italian context. In this study, we investigated the psychometric properties of the Assessment of Identity Development in Adolescence (AIDA), a self-report questionnaire designed to assess identity diffusion vs. identity integration, in an Italian sample (N = 1,102) of clinical and n…
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses
Autism spectrum disorder (ASD) is currently diagnosed according to behavioral criteria. Biomarkers that identify children with ASD could lead to more accurate and early diagnosis. ASD is a complex disorder with multifactorial and heterogeneous etiology supporting recognition of biomarkers that identify patient subsets. We investigated an easily testable blood metabolic profile associated with ASD diagnosis using high throughput analyses of sample…
Congenital Insensitivity to Pain with Anhidrosis (NTRK1 Mutation) and Early Onset Renal Disease: Clinical Report on Three Sibs with a 25-Year Follow-Up in One of Them
Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene which encodes the receptor for nerve growth factor (NGF). We report the clinical course in three sibs with CIPA and proven NTRK1 gene mutations with a follow-up over a 25-year period in one of them. They had the characteristic clinical features of an abnormally high pain thresho…
Chitotriosidase, a prematurely orphan enzyme
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Chitotriosidase, a prematurely orphan enzyme
Congenital Insensitivity to Pain with Anhidrosis (NTRK1 Mutation) and Early Onset Renal Disease: Clinical Report on Three Sibs with a 25-Year Follow-Up in One of Them
Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive disorder caused by mutations in the neurotrophic tyrosine receptor kinase 1 (NTRK1) gene which encodes the receptor for nerve growth factor (NGF). We report the clinical course in three sibs with CIPA and proven NTRK1 gene mutations with a follow-up over a 25-year period in one of them. They had the characteristic clinical features of an abnormally high pain thresho…
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses
Autism spectrum disorder (ASD) is currently diagnosed according to behavioral criteria. Biomarkers that identify children with ASD could lead to more accurate and early diagnosis. ASD is a complex disorder with multifactorial and heterogeneous etiology supporting recognition of biomarkers that identify patient subsets. We investigated an easily testable blood metabolic profile associated with ASD diagnosis using high throughput analyses of sample…
Psychometric Properties of the Italian Version of the Assessment of Identity Development in Adolescence (Aida)
Identity diffusion is a core element of the borderline personality organization. A valid and reliable assessment tool is needed to identify at-risk adolescents in the Italian context. In this study, we investigated the psychometric properties of the Assessment of Identity Development in Adolescence (AIDA), a self-report questionnaire designed to assess identity diffusion vs. identity integration, in an Italian sample (N = 1,102) of clinical and n…
A Randomized Controlled Trial Comparing Videoconference vs. Face-to-Face Delivery of Behavior Therapy for Youths With Tourette Syndrome in the Time of Covid-19
Online remote behavior therapy is a promising tool for behavioral therapies for patients with Tourette Syndrome and may represents an alternative treatment option
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample
Biological bases of autism spectrum disorder (ASD) include both genetic and epigenetic causes. Patients with ASD show anomalies in the profile of certain plasma amino acids, including neuroactive amino acids. Monitoring plasma amino acids may be relevant for patient care and interventions. We evaluated the plasma amino acid profile in samples extracted from dry blood spots by electrospray ionization-tandem mass spectrometry. Fourteen amino acids …
Head circumference growth in children with Autism Spectrum Disorder: Trend and clinical correlates in the first five years of life
In this study HC size from birth to 5 years links to accelerated HC growth rate as early as the first 6 months of age in children with ASD and macrocephaly, preceding the onset and diagnosis of ASD. We found that in early childhood, children with ASD-M may exhibit some advantages in language and social communication and emotional skills without differences in autism severity, when compared with age-matched normocephalic ASD children. Longitudinal…
Sensory phenomena in children with Tourette syndrome or autism spectrum disorder
SP are a frequently reported characteristic both of ASD and TS. Future studies are needed to better evaluate the differences on their phenomenology in patients with TS and ASD
Clinical and Behavioral Correlates of Blood Acylcarnitine Profiles in Children with Autism Spectrum Disorder: A Cross-Sectional Analysis
Background/Objectives : Autism Spectrum Disorder (ASD) etiology is complex, involving genetics and environmental factors, and associated with impaired energy metabolism. Mitochondrial fatty acid oxidation (mFAO) is instrumental to energy production through the oxidation of acylcarnitines (ACs). We performed a comprehensive investigation of blood AC profiles in a pediatric ASD cohort, aiming to define ASD subgroups based on AC profiles and link th…
De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder
This study identifies shared neurobehavioral features of idiopathic Autism Spectrum Disorder (ASD) associated with de novo LoF mutations in ARHGAP32 and reinforces the involvement of RhoGAP family proteins in neurodevelopmental disorders. Taken together with previous evidence, our data support the role of ARHGAP32 as a candidate gene for ASD, expanding the genetic spectrum
Genetic architecture and clinical features of Tourette syndrome in a child and adolescent cohort: An explorative clinical exome-based study
These findings support a dual model of genetic susceptibility in TS, where rare, high-impact exomic variants may contribute to more severe tics, cognitive impairment, and syndromic presentations, whereas polygenic inheritance mostly occurs in familial and milder forms. Incorporating exome sequencing into diagnostic workflows may enhance etiological classification and inform precision-medicine strategies for TS
Medicine (9 works) · Autism (6 works) · Autism spectrum disorder (6 works) · Autism Spectrum Disorder Research (6 works) · Psychiatry (6 works) · Internal Medicine (5 works) · Clinical Psychology (4 works) · Genetics and Neurodevelopmental Disorders (4 works) · Pediatrics (4 works) · Psychology (4 works)