CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.
Journal
Human molecular genetics
ISSN: 1460-2083
Titre abrégé: Hum Mol Genet
Pays: England
ID NLM: 9208958
Informations de publication
Date de publication:
17 08 2022
17 08 2022
Historique:
received:
19
11
2021
revised:
17
12
2021
accepted:
02
01
2022
pubmed:
11
3
2022
medline:
25
8
2022
entrez:
10
3
2022
Statut:
ppublish
Résumé
CHAMP1-related neurodevelopmental disorder, or CHAMP1 disorder, is a recently described genetic syndrome associated with developmental delay, intellectual disability, behavioral symptoms, medical comorbidities, and dysmorphic features. To date, literature has focused on medical review and dysmorphology but has yet to prospectively assess neurobehavioral core domains such as autism, or behavioral, language, cognitive, and sensory features. Here, we present deep phenotyping results for 11 individuals with CHAMP1 disorder, based on approximately 12 hours of remote clinician-administered assessments and standardized caregiver questionnaires. Diagnoses of autism spectrum disorder were given to 33% of participants; repetitive behaviors and sensory-seeking symptoms were prominent in this cohort. In addition, 60% of participants met the criteria for attention-deficit/hyperactivity disorder (ADHD). High rates of ADHD and relatively low rates of treatment suggest potential areas for intervention. This study represents the first prospective phenotyping analysis of individuals with CHAMP1 disorder. The utility of specific measures as clinical endpoints, as well as benefits and limitations of remote phenotyping, are described.
Identifiants
pubmed: 35271727
pii: 6528266
doi: 10.1093/hmg/ddac018
pmc: PMC9396938
doi:
Substances chimiques
CHAMP1 protein, human
0
Chromosomal Proteins, Non-Histone
0
Phosphoproteins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
2582-2594Subventions
Organisme : NIMH NIH HHS
ID : U01 MH111661
Pays : United States
Informations de copyright
© The Author(s) 2022. Published by Oxford University Press.
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