Paolo Alfieri
Biographic Data
| ID | 7956154 |
|---|---|
| NAME | Paolo Alfieri |
| GIVEN NAMES | Paolo |
| FAMILY NAME | Alfieri |
| SIGNATURE | ALFIERI P |
| AFFILIATIONS | Bambino Gesù Children's Hospital |
| ORCID | 0000-0003-2197-9417 |
| VERIFIED | Yes |
| TOTAL WORKS | 5 |
| TOTAL CITATIONS | 0 |
| AUTHOR COUNT | 5 |
| EDITOR COUNT | 0 |
| FIRST PUBLICATION YEAR | 2022 |
| LATEST PUBLICATION YEAR | 2025 |
| H-INDEX | 0 |
Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome
Background/Objectives : Malan syndrome (MALNS) is an ultra-rare genetic disorder caused by aberrations in the NFIX gene, located at chromosome 19p13.2. Key features of MALNS include general overgrowth, a typical facial gestalt, muscle-skeletal abnormalities, speech difficulties and intellectual disability. Additionally, MALNS frequently presents with autism-like behaviour and social challenges. However, characterisation of the cognitive profile o…
Investigating the relationship between sleep disturbances and psychopathology In children and adolescents with microdeletion of 22q11 chromosome
Our study is one of the few to specifically investigate sleep problems in the pediatric population with 22q11.2DS and the first to use the Sleep Disturbance Scale for Children (SDSC) to assess various aspects of sleep disorders in this group. Further studies are required to draw more consistent conclusions
PTCHD1 gene mutation/deletion
Our analysis shows that the psychopathological and behavioral comorbidities along with cognitive impairment interfere with development, therefore contributing to the severity of disability associated with PTCHD1 gene mutation. Awareness of this profile by professionals and caregivers can promote prompt diagnosis as well as early cognitive and occupational enhancement interventions
Assessment of oppositional defiant disorder and oppositional behavior in children and adolescents with Down syndrome
This study provides support for the use of parent-report questionnaires to assess ODD symptoms in children and adolescents with DS by evaluating their levels of agreement with a semi-structured psychopathological interview. In particular, our results suggest that CPRS could be considered a suitable screening tool for ODD clinical and subclinical symptoms in youth with DS
A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome
Interstitial deletions of 7q11.23 cause the well-known Williams-Beuren Syndrome (WBS), while duplication of the same region leads to duplication 7 syndrome (Dup7). Children with WBS share a distinct neurobehavioral phenotype including mild to severe intellectual disability, severely impaired visual spatial abilities, relatively preserved verbal expressive skills, anxiety problems, enhanced social motivation (i.e., hypersociable behaviors) and soc…
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A Comparison of Adaptive Functioning Between Children With Duplication 7 Syndrome and Williams-Beuren Syndrome
Interstitial deletions of 7q11.23 cause the well-known Williams-Beuren Syndrome (WBS), while duplication of the same region leads to duplication 7 syndrome (Dup7). Children with WBS share a distinct neurobehavioral phenotype including mild to severe intellectual disability, severely impaired visual spatial abilities, relatively preserved verbal expressive skills, anxiety problems, enhanced social motivation (i.e., hypersociable behaviors) and soc…
Assessment of oppositional defiant disorder and oppositional behavior in children and adolescents with Down syndrome
This study provides support for the use of parent-report questionnaires to assess ODD symptoms in children and adolescents with DS by evaluating their levels of agreement with a semi-structured psychopathological interview. In particular, our results suggest that CPRS could be considered a suitable screening tool for ODD clinical and subclinical symptoms in youth with DS
PTCHD1 gene mutation/deletion
Our analysis shows that the psychopathological and behavioral comorbidities along with cognitive impairment interfere with development, therefore contributing to the severity of disability associated with PTCHD1 gene mutation. Awareness of this profile by professionals and caregivers can promote prompt diagnosis as well as early cognitive and occupational enhancement interventions
Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome
Background/Objectives : Malan syndrome (MALNS) is an ultra-rare genetic disorder caused by aberrations in the NFIX gene, located at chromosome 19p13.2. Key features of MALNS include general overgrowth, a typical facial gestalt, muscle-skeletal abnormalities, speech difficulties and intellectual disability. Additionally, MALNS frequently presents with autism-like behaviour and social challenges. However, characterisation of the cognitive profile o…
Investigating the relationship between sleep disturbances and psychopathology In children and adolescents with microdeletion of 22q11 chromosome
Our study is one of the few to specifically investigate sleep problems in the pediatric population with 22q11.2DS and the first to use the Sleep Disturbance Scale for Children (SDSC) to assess various aspects of sleep disorders in this group. Further studies are required to draw more consistent conclusions
Psychiatry (5 works) · Psychology (5 works) · Autism (3 works) · Clinical Psychology (3 works) · Clinical Psychology (3 works) · Cognition (3 works) · Developmental psychology (3 works) · Intellectual disability (3 works) · Medicine (3 works) · Psychopathology (3 works)