Ignite Creation Date:
2024-05-06 @ 8:00 PM
Last Modification Date:
2024-10-26 @ 3:18 PM
Study NCT ID:
NCT06211673
Status:
RECRUITING
Last Update Posted:
2024-02-01
First Post:
2024-01-09
Brief Title:
Psychiatric Phenotype Characterization of Individuals With FOXP1 Syndrome
Sponsor:
Assistance Publique - Hôpitaux de Paris
Organization:
Assistance Publique - Hôpitaux de Paris
Study Overview
Official Title:
Psychiatric Phenotype Characterization of Individuals With FOXP1 Syndrome
Status:
RECRUITING
Status Verified Date:
2024-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
FOXP1-PP
Brief Summary:
FOXP1 syndrome is a rare genetic disorder with a variable phenotype characterized somatically by facial dysmorphia dysphagia hypotonia relative or real macrocephaly which may be associated with cerebral cardiac urogenital and ocular malformations Psychiatrically the syndrome manifests as a global developmental delay then as mild to severe intellectual development disorder speech and language impairments behavioral issues that may include autistic features hyperactivity and emotional lability Assessing a cohort of 17 patients with FOXP1 syndrome Trelles et al 2021 reported a significant frequency of autistic spectrum disorders attention deficithyperactivity disorder ADHD and anxiety disorders They also noted the presence of repetitive behaviors in the majority of patients and sensory-seeking behaviors However within the patient population at the Child and Adolescent Psychiatry Department of Necker Enfants Malades Hospital a significant prevalence of psychotic disorders was observed Additionally families reported ineffectiveness and poor tolerance of methylphenidate in these patients Therefore it appears crucial to further characterize the psychiatric phenotype of individuals with FOXP1 syndrome and explore the link between agitation and psychotic prodromes
Detailed Description:
FOXP1 syndrome is a rare genetic pathology disorder with a variable phenotype characterized somatically by facial dysmorphia dysphagia hypotonia relative to or real macrocephaly which may be associated with cerebral cardiac urogenital and ocular malformations Psychiatrically the syndrome manifests as a global developmental delay then as mild to severe intellectual development disorder speech and language impairments behavioral abnormalities issues that may include autistic features hyperactivity and emotional lability Nevertheless the investigative team of the study noted within the population of patients with FOXP1 syndrome followed in the child and adolescent psychiatry department of the Necker Enfants Malades hospital a significant prevalence of psychotic disorders Furthermore families report a lack of effectiveness and poor tolerance of methylphenidate in these patients Also it seems important to continue the characterization of the psychiatric phenotype of patients with FOXP1 syndrome and to question the link between agitation and psychotic prodromes Assessing a cohort of 17 patients with FOXP1 syndrome Trelles et al 2021 reported a significant frequency of autistic spectrum disorders attention deficithyperactivity disorder ADHD and anxiety disorders They also noted the presence of repetitive behaviors in the majority of patients and sensory-seeking behaviors However within the patient population at the Child and Adolescent Psychiatry Department of Necker Enfants Malades Hospital a significant prevalence of psychotic disorders was observed Additionally families reported ineffectiveness and poor tolerance of methylphenidate in these patients Therefore it appears crucial to further characterize the psychiatric phenotype of individuals with FOXP1 syndrome and explore the link between agitation and psychotic prodromes
The different elements that will be assessed include
hyperactivity symptoms
attention disorder symptoms
psychotic symptoms
autistic symptoms
sensory peculiarities
anxiety symptoms
sleeping disturbances
behavioral issues
general psychopathology
adaptive skills Furthermore the study will seek to determine whether agitation falls within the scope ofADHD Attention Deficit Disorder withwithout Hyperactivity or whether if it is part of a context of emerging psychotic symptomatology
The different elements that will be assessed include
hyperactivity symptoms
attention disorder symptoms
psychotic symptoms
autistic symptoms
sensory peculiarities
anxiety symptoms
sleeping disturbances
behavioral issues
general psychopathology
adaptive skills Furthermore the study will seek to determine whether agitation falls within the scope ofADHD Attention Deficit Disorder withwithout Hyperactivity or whether if it is part of a context of emerging psychotic symptomatology
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 2023-A01981-44 | OTHER | IDRCB Number | None |