ArticleAmerican journal of medical genetics. Part A2020
Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Assessment of Challenging Behavior Exhibited by People with Intellectual and Developmental Disabilities: A Systematic Review.International journal of environmental research and public health · 2022Pooled it
- Excess EEG beta-band oscillations in Dup15q syndrome correlate with clinical severity.Translational psychiatry · 2026Article
- Review
- Vision In SyndrOmic Neurodevelopmental disorders-15q (VISiON-15q) study: eye tracking to supplement clinical examination for detection of cerebral/cortical visual impairment in children with Angelman and Duplication of 15q Syndromes.Frontiers in human neuroscience · 2026Article
- Article
- Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders.Current opinion in neurobiology · 2025Review
- Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.Nature neuroscience · 2024Article
- Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.medRxiv : the preprint server for health sciences · 2024Article
- Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome.Journal of neurodevelopmental disorders · 2024Article
- Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles.European journal of human genetics : EJHG · 2024Article
- The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons.Stem cell reports · 2023Article
- A review of the cognitive impact of neurodevelopmental and neuropsychiatric associated copy number variants.Translational psychiatry · 2023Review
- The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.Journal of autism and developmental disorders · 2023Article
- Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).Frontiers in neuroscience · 2023Article
- Challenges and opportunities for precision medicine in neurodevelopmental disorders.Advanced drug delivery reviews · 2022Review
- Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome.Molecular autism · 2021Article
- An Unbiased Drug Screen for Seizure Suppressors in Duplication 15q Syndrome Reveals 5-HTBiological psychiatry · 2020Article
- Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD.Autism research : official journal of the International Society for Autism Research · 2020Article
- An integrated action plan to fund and support drug development for Dup15q syndrome: a patient organization perspective.Therapeutic advances in rare diseaseArticle
- Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions.Therapeutic advances in rare diseaseReview
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
Duplication of 15q11.2-q13.1 (dup15q syndrome) is one of the most common copy number variations associated with autism spectrum disorders (ASD) and intellectual disability (ID). As with many neurogenetic conditions, accurate behavioral assessment is challenging due to the level of impairment and heterogeneity across individuals. Large-scale phenotyping studies are necessary to inform future clinical trials in this and similar ID syndromes. This study assessed developmental and behavioral characteristics in a large cohort of children with dup15q syndrome, and examined differences based on genetic subtype and epilepsy status. Participants included 62 children (2.5-18 years). Across individuals, there was a wide range of abilities. Although adaptive behavior was strongly associated with cognitive ability, adaptive abilities were higher than cognitive scores. Measures of ASD symptoms were associated with cognitive ability, while parent report of challenging behavior was not. Both genetic subtype and epilepsy were related to degree of impairment across cognitive, language, motor, and adaptive domains. Children with isodicentric duplications and epilepsy showed the greatest impairment, while children with interstitial duplications showed the least. On average, participants with epilepsy experienced seizures over 53% of their lives, and half of children with epilepsy had infantile spasms. Parents of children with isodicentric duplications reported more concerns regarding challenging behaviors. Future trials in ID syndromes should employ a flexible set of assessments, allowing each participant to receive assessments that capture their skills. Multiple sources of information should be considered, and the impact of language and cognitive ability should be taken into consideration when interpreting results.
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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.