- ICH GCP
- Registre américain des essais cliniques
- Essai clinique NCT03718923
Syndrome FOXP1 : Le Seaver Autism Center for Research and Treatment caractérise les troubles neurodéveloppementaux liés à FOXP1 à l'aide de mesures génétiques, médicales et neuropsychologiques.
Centre de recherche et de traitement de l'autisme Seaver - Noyau d'évaluation
FOXP1, also known as Forkhead-box Protein P1, is a transcription factor protein belonging to the FOX gene family. Disruptions in the FOXP1 gene cause a phenotype characterized by global developmental delay, speech deficits, mild dysmorphic features, and traits of autism spectrum disorder. This study seeks to characterize FOXP1-related neurodevelopmental disorders using a number of genetic, medical and neuropsychological measures.
Aperçu de l'étude
Statut
Description détaillée
Subjects with a variant in the FOXP1 gene will be asked to complete a battery of developmental, behavioral and medical assessments to better characterize gene-related neurodevelopmental deficits. This series of assessments takes place over the course of a three-day period. It includes the Autism Diagnostic Observation Schedule (ADOS), parent interviews regarding developmental history and behavior, a psychiatric evaluation, a neurology assessment, as well as a clinical genetic evaluation that includes a physical and vitals exam. Affected individuals, as well as biologically related siblings, will also undergo a series of sensory assessments, including a research EEG, visual evoked potential, and an eyetracking assessment. Family members present for the visit will also be asked to provide a blood and/or saliva sample for research genetics.
Type d'étude
Inscription (Estimé)
Contacts et emplacements
Coordonnées de l'étude
- Nom: Seaver Autism Center
- Numéro de téléphone: 212-241-0961
- E-mail: TheSeaverCenter@mssm.edu
Lieux d'étude
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New York
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New York, New York, États-Unis, 10029
- Recrutement
- The Seaver Autism Center for Research and Treatment
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Contact:
- Seaver Autism Center
- Numéro de téléphone: 212-241-0961
- E-mail: TheSeaverCenter@mssm.edu
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Critères de participation
Critère d'éligibilité
Âges éligibles pour étudier
Accepte les volontaires sains
Sexes éligibles pour l'étude
Méthode d'échantillonnage
Population étudiée
Individuals for this cohort study will be selected from any population, provided that they have a variant in the FOXP1 gene and meet eligibility requirements.
La description
Inclusion Criteria:
- Eligible participants must have a documented variant affecting the FOXP1 gene that the research team determines to be likely or definitely pathogenic.
- Eligible participants must be at least 2 years of age.
Exclusion Criteria:
- none
Plan d'étude
Comment l'étude est-elle conçue ?
Détails de conception
- Modèles d'observation: COHORT
- Perspectives temporelles: CROSS_SECTIONAL
Que mesure l'étude ?
Principaux critères de jugement
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
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Autism Diagnostic Observation Schedule (ADOS)
Délai: Day 1
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The ADOS is a structured, play-based assessment of communication, social interaction and behavior in individuals (children and adults) suspected of having a diagnosis of Autism Spectrum Disorder. The examiner will select 1 of 4 different ADOS modules, which differ based on chronological age and verbal fluency, to use for the individual being assessed. An Overall Total score >= 16, if the individual meets for the "few to no words" algorithm, or 12, if the individual meets for the "some words" algorithm, suggests autism in the individual. An Overall Total score of 11 to 15, if the individual meets for the "few to no words" algorithm, or 8 to 11, if the individual meets for the "some words" algorithm, suggests the individual is on the autism spectrum. An Overall Total score equal to or lower than 10, if the individual meets for "few to no words" algorithm, or 7, if the individual meets for the "some words" algorithm, classifies the individual as "non-spectrum" or not on the spectrum. |
Day 1
|
Mesures de résultats secondaires
Mesure des résultats |
Description de la mesure |
Délai |
|---|---|---|
|
Autism Diagnostic Interview - Revised (ADI-R)
Délai: Day 1
|
The ADI-R is a standardized, semi-structured clinical assessment used to diagnose Autism Spectrum Disorder (ASD) in children and adults. The ADI-R is a structured interview administered by an examiner to the primary caregiver of children and adults suspected of having ASD. The assessment contains 93 items, scored from 0 (behavior not present) to 279 (severe or frequent behavior), A higher assessment score indicates poorer outcomes. |
Day 1
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Stanford-Binet Intelligence Scales
Délai: Day 1
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The Stanford-Binet Intelligence Scales are a cognitive assessment measuring the five factors of fluid reasoning, knowledge, quantitative reasoning, visual-spatial processing and working memory. The number of correct responses for the subtests is converted to a Standard Age Score, based on the chronological age of the individual being assessed. The Area Scores and Test Composite on the Stanford-Binet test have an average score of 100 and a standard deviation of 16. The converted score of the individual being assessed indicates where he/she is relative to the norm. A score exceeding 145 is classified as "Genius or near genius," and scores below 70 are classified as "Borderline deficiency." |
Day 1
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Differential Ability Scales (DAS)
Délai: Day 1
|
The DAS is a battery of cognitive and achievement testing for children 2.5-18 years old that is divided into Early Years and School-Age versions. The 20 subtests of the DAS are broken up into 17 cognitive and 3 achievement subtests. The scores of the test are categorized into i) General Conceptual Ability (GCA) which is based on the ability of the individual being assessed to perform complex mental processing involving transformation of information ii) cluster scores that indicate verbal, spatial and nonverbal reasoning abilities and iii) subtest scores that represent specific abilities or processes. The tests yield t-scores and percentiles by age. |
Day 1
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Mullen Scales of Early Learning
Délai: Day 1
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The Mullen Scales of Early Learning are a clinical assessment used to measure cognitive ability and motor development in children ages 0-68 months on the five scales of Gross Motor, Visual Reception, Fine Motor, Expressive Language, and Receptive Language. T-scores, percentile rankings, and age equivalents can be calculated for each of these five scales. |
Day 1
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Collaborateurs et enquêteurs
Parrainer
Collaborateurs
Les enquêteurs
- Chercheur principal: Paige Siper, Ph.D., Icahn School of Medicine at Mount Sinai
- Chercheur principal: Elodie Drapeau, Ph.D., Icahn School of Medicine at Mount Sinai
- Chercheur principal: Reymundo Lozano, M.D., Icahn School of Medicine at Mount Sinai
- Chercheur principal: Alexander Kolevzon, MD, Icahn School of Medicine at Mount Sinai
Dates d'enregistrement des études
Dates principales de l'étude
Début de l'étude (Réel)
Achèvement primaire (Estimé)
Achèvement de l'étude (Estimé)
Dates d'inscription aux études
Première soumission
Première soumission répondant aux critères de contrôle qualité
Première publication (Réel)
Mises à jour des dossiers d'étude
Dernière mise à jour publiée (Réel)
Dernière mise à jour soumise répondant aux critères de contrôle qualité
Dernière vérification
Plus d'information
Termes liés à cette étude
Mots clés
Termes MeSH pertinents supplémentaires
- Manifestations neurologiques
- Maladies du système nerveux
- Les troubles mentaux
- Manifestations neurocomportementales
- Troubles neurodéveloppementaux
- Troubles envahissants du développement de l'enfant
- Troubles de la communication
- Conditions pathologiques, signes et symptômes
- Signes et symptômes
- Troubles du spectre autistique
- Troubles du développement
- Déficience intellectuelle
- Des troubles d'apprentissage
Autres numéros d'identification d'étude
- GCO 98-436 - A
Plan pour les données individuelles des participants (IPD)
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Informations sur les médicaments et les dispositifs, documents d'étude
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