Our study examines the Diagnostic and Statistical Manual-Fifth Edition (DSM-5) and Diagnostic and Statistical Manual-Fourth Edition, Text Revision (DSM-IV-TR) when applied concurrently against the best estimate clinical diagnoses for 110 children (5.1-19.6 years old) referred for diagnostic assessments of Autism Spectrum Disorder (ASD) in a Singaporean outpatient speciality clinic. DSM-IV-TR performed slightly better, yielding sensitivity of 0.946 and specificity of 0.889, compared to DSM-5 (sensitivity = 0.837; specificity = 0.833). When considering the ASD sub-categories, sensitivity ranged from 0.667 to 0.933, and specificity ranged from 0.900 to 0.975. More participants with a PDD-NOS best estimate clinical diagnosis (40%) were misclassified on DSM-5. Merits and weaknesses to both classification systems, and implications for access to services and policy changes are discussed.
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http://dx.doi.org/10.1007/s10803-018-3594-x | DOI Listing |
Purpose: Our goals were to: 1) examine the occurrence of behavioral and emotional symptoms in children on the autism spectrum in a large national sample, stratifying by sex, and 2) evaluate whether children with increased autism-related social communication deficits also experience more behavioral and emotional problems.
Methods: Participants (n = 7,998) were from 37 cohorts from the Environmental influences on Child Health Outcomes (ECHO) Program. Cross-sectional information on demographic factors, parent-report of an ASD diagnosis by clinician, Social Responsiveness Scale (SRS) scores, and Child Behavior Checklist (CBCL) scores were obtained for children aged 2.
Nat Commun
January 2025
Department of Developmental and Cell Biology, University of California, Irvine, CA, USA.
Functional analysis of non-coding variants associated with congenital disorders remains challenging due to the lack of efficient in vivo models. Here we introduce dual-enSERT, a robust Cas9-based two-color fluorescent reporter system which enables rapid, quantitative comparison of enhancer allele activities in live mice in less than two weeks. We use this technology to examine and measure the gain- and loss-of-function effects of enhancer variants previously linked to limb polydactyly, autism spectrum disorder, and craniofacial malformation.
View Article and Find Full Text PDFGene
January 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
View Article and Find Full Text PDFMol Autism
January 2025
Human Anatomy Department, Nanjing Medical University, No.101 Longmian Avenue, Jiangning District, Nanjing, 211166, Jiangsu, People's Republic of China.
Autism spectrum disorder (ASD) is characterized by difficulties in social interaction, communication challenges, and repetitive behaviors. Despite extensive research, the molecular mechanisms underlying these neurodevelopmental abnormalities remain elusive. We integrated microscale brain gene expression data with macroscale MRI data from 1829 participants, including individuals with ASD and typically developing controls, from the autism brain imaging data exchange I and II.
View Article and Find Full Text PDFJ Mol Histol
January 2025
Department of Histology, Faculty of Medicine, Assiut University, Assiut, Egypt.
Autism spectrum disorder (ASD) is a group of severe neurodevelopmental disorders. This study aimed to elucidate the potential ameliorating effect of postnatal administration of MSCs-derived Exo in a rat model of ASD. Male pups were divided into control (Cont), (VPA); pups of pregnant rats injected with VPA subcutaneously (S.
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