ArticleMolecular autism2017
Neurogenetic analysis of childhood disintegrative disorder.
Article in Molecular autism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- Excitation/inhibition balance subtypes in autism and their genetic, neural, and clinical profiles.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- Number of Alpha Peaks in the Electroencephalogram Is Associated With Clinical Phenotype and Copy Number Variants in Youths With Autism.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2026Article
- Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.Clinical genetics · 2026Article
- Molecular and Genetic Mechanisms in Autism Spectrum Disorder.Annals of neurology · 2025Review
- Autism Spectrum Disorder, Oral Implications, and Oral Microbiota.Children (Basel, Switzerland) · 2025Review
- Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.International journal of molecular sciences · 2024Article
- The Role ofInternational journal of molecular sciences · 2023Article
- Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis.Journal of personalized medicine · 2022Article
- Evidence of neuroinflammation and immunotherapy responsiveness in individuals with down syndrome regression disorder.Journal of neurodevelopmental disorders · 2022Article
- Childhood Disintegrative Disorder (CDD): Symptomatology of the Norwegian Patient Population and Parents' Experiences of Patient Regression.Journal of autism and developmental disorders · 2022Article
- Article
- Big data approaches to decomposing heterogeneity across the autism spectrum.Molecular psychiatry · 2019Review
- Changing conceptualizations of regression: What prospective studies reveal about the onset of autism spectrum disorder.Neuroscience and biobehavioral reviews · 2019Review
- Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.American journal of human genetics · 2019Article
- De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.BMC medical genetics · 2018Article
Corrections and comments
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Authors and funding
23 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundChildhood disintegrative disorder (CDD) is a rare form of autism spectrum disorder (ASD) of unknown etiology. It is characterized by late-onset regression leading to significant intellectual disability (ID) and severe autism. Although there are phenotypic differences between CDD and other forms of ASD, it is unclear if there are neurobiological differences.
methodsWe pursued a multidisciplinary study of CDD (
resultsWe observed potential differences between CDD and other forms of ASD. WES and CNV analyses identified one or more rare de novo, homozygous, and/or hemizygous (mother-to-son transmission on chrX) variants for most probands that were not shared by unaffected sibling controls. There were no clearly deleterious variants or highly recurrent candidate genes. Candidate genes that were found to be most conserved at variant position and most intolerant of variation, such as
conclusionsGiven that cohort sizes were limited by the rarity of CDD, and the challenges of conducting non-sedated fMRI and eye tracking in subjects with ASD and significant ID, this is an exploratory study designed to investigate the neurobiological features of CDD. In addition to reporting the first multimodal analysis of CDD, a combination of fMRI and eye-tracking analyses are being presented for the first time for low-functioning individuals with ASD. Our results suggest differences between CDD and other forms of ASD on the neurobiological as well as clinical level.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.