Predictors, Parental Views, and Concordance Across Diagnostic Sources of Autism in Male Youth with Fragile X Syndrome: Clinical Best Estimate and Community Diagnoses.
Community identification
Diagnostic overshadowing
FMR1
Intellectual disability
Neurodevelopmental disorder
Journal
Research on child and adolescent psychopathology
ISSN: 2730-7174
Titre abrégé: Res Child Adolesc Psychopathol
Pays: United States
ID NLM: 101773609
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
accepted:
15
02
2023
medline:
19
6
2023
pubmed:
4
3
2023
entrez:
3
3
2023
Statut:
ppublish
Résumé
Persons with fragile X syndrome (FXS) with cooccurring autism spectrum disorder (ASD) are at risk for poorer educational, medical, employment, and independent living outcomes. Thus, the identification of ASD in those with FXS is fundamental to ensuring access to appropriate supports to achieve good quality of life. Yet, optimal diagnostic methods and the exact rate of ASD comorbidity remains controversial, and description of ASD identification in the community in FXS has been limited. This study characterized ASD in a sample of 49 male youth with FXS across multiple diagnostic sources: parent-reported community diagnoses, classification derived from ADOS-2 and ADI-R thresholds, and clinical best-estimate classifications from an expert multidisciplinary team. High concordance was found between ADOS-2/ADI-R and clinical best estimate classifications, with both methods supporting ASD in ~ 75% of male youth with FXS. In contrast, 31% had a community diagnosis. Findings supported gross under-identification of ASD in male youth with FXS in community settings; 60% of those who met clinical best estimate criteria for ASD had not received a diagnosis in the community. Moreover, community diagnoses were poorly aligned with the presence of ASD symptoms as perceived by parents and professionals and, unlike clinical best estimate diagnoses, were not associated with cognitive, behavioral, or language features. Findings highlight under-identification of ASD in community settings as a significant barrier to service access for male youth with FXS. Clinical recommendations should emphasize the benefits of seeking a professional ASD evaluation for children with FXS who are noted to display key ASD symptoms.
Identifiants
pubmed: 36867382
doi: 10.1007/s10802-023-01044-1
pii: 10.1007/s10802-023-01044-1
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
989-1004Subventions
Organisme : NCATS NIH HHS
ID : UL1TR001860
Pays : United States
Organisme : NIDCD NIH HHS
ID : R21DC017804
Pays : United States
Organisme : NIA NIH HHS
ID : R01AG073374
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1TR001860
Pays : United States
Organisme : NIDCD NIH HHS
ID : R21DC017804
Pays : United States
Organisme : NIA NIH HHS
ID : R01AG073374
Pays : United States
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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