ArticleFrontiers in psychiatry2022
Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.
Article in Frontiers in psychiatry, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 4 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 4 syntheses or guidelines pooled it, 20 citations in OpenAlex.
- Prevalence of neuropsychiatric and seizure disorders in neurofibromatosis type 1: a systematic review and meta-analysis.Journal of neurology · 2026Pooled it
- The neurodevelopmental spectrum of CASK-related disorder.Journal of neurodevelopmental disorders · 2025Pooled it
- Social Communication in Ras Pathway Disorders: A Comprehensive Review From Genetics to Behavior in Neurofibromatosis Type 1 and Noonan Syndrome.Biological psychiatry · 2025Pooled it
- Autism spectrum disorder profiles in RASopathies: A systematic review.Molecular genetics & genomic medicine · 2024Pooled it
- Relation Between Genotype and Behavioral Phenotype in Children and Adolescents With Neurofibromatosis Type 1.JAACAP open · 2026Article
- Genetic architecture of patients with autism spectrum disorder - data analysis based on the literature review.BMC medical genomics · 2026Review
- What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study.Journal of intellectual disability research : JIDR · 2026Article
- Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.Journal of autism and developmental disorders · 2026Article
- Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study.Journal of neurodevelopmental disorders · 2025Article
- Prelinguistic Communication Complexity of Children With Neurogenetic Syndromes.Journal of speech, language, and hearing research : JSLHR · 2025Article
- Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review.Journal of neurodevelopmental disorders · 2025Article
- Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome.Autism research : official journal of the International Society for Autism Research · 2025Article
- PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability.Orphanet journal of rare diseases · 2024Article
- Autism and anaesthesia: a simple framework for everyday practice.BJA education · 2024Review
- Use of melatonin for children and adolescents with chronic insomnia attributable to disorders beyond indication: a systematic review, meta-analysis and clinical recommendation.EClinicalMedicine · 2023Article
- Children neuropsychological and behavioral scale-revision 2016 in the early detection of autism spectrum disorder.Frontiers in psychiatry · 2022Article
- Social challenges, autism spectrum disorder, and attention deficit/hyperactivity disorder in youth with neurofibromatosis type I.Applied neuropsychology. ChildArticle
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: The etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in symptoms across individuals. This study compares ASD symptomatology between monogenetic syndromes with a high ASD prevalence, in order to reveal syndrome specific vulnerabilities and to clarify how genetic variations affect ASD symptom presentation. Methods: We assessed ASD symptom severity in children and young adults (aged 0-28 years) with Fragile X Syndrome (FXS, Results: Overall, ASD severity scores were highest for the FXS group and lowest for the NF1 group. Compared to nsASD, individuals with an ASD classification in our syndrome groups showed less problems on the instruments' social domains. We found a relative strength in the AS group on the social cognition, communication and motivation domains and a relative challenge in creativity; a relative strength of the NF1 group on the restricted interests and repetitive behavior scale; and a relative challenge in the FXS and TSC groups on the restricted interests and repetitive behavior domain. Conclusion: The syndrome-specific strengths and challenges we found provide a frame of reference to evaluate an individual's symptoms relative to the larger syndromic population and to guide treatment decisions. Our findings support the need for personalized care and a dimensional, symptom-based diagnostic approach, in contrast to a dichotomous ASD diagnosis used as a prerequisite for access to healthcare services. Similarities in ASD symptom profiles between AS and FXS, and between NF1 and TSC may reflect similarities in their neurobiology. Deep phenotyping studies are required to link neurobiological markers to ASD symptomatology.
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