ReviewJournal of autism and developmental disorders2005
Specific genetic disorders and autism: clinical contribution towards their identification.
Review in Journal of autism and developmental disorders, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
107 citing papers in PubMed, 1 synthesis or guideline pooled it, 315 citations in OpenAlex.
- Medical comorbidities in children and adolescents with autism spectrum disorders and attention deficit hyperactivity disorders: a systematic review.European child & adolescent psychiatry · 2017Pooled it
- Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA.The Journal of pediatrics · 2014Trial
- Assessing Autism Co-Occurrence in Fragile X Syndrome: Proposing a Preliminary CARS-2 Cut-Off Score.Journal of autism and developmental disorders · 2026Article
- Emotion- and Region-Specific Gaze Differences in Parents of Children With Autism Spectrum Disorder.Psychiatry investigation · 2026Article
- Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.Genes · 2026Article
- Neuroinflammation and autism: what have we learned so far?International journal of developmental disabilities · 2026Article
- Metabolomic changes in children with autism.World journal of clinical pediatrics · 2024Article
- Review
- Purine signaling pathway dysfunction in autism spectrum disorders: Evidence from multiple omics data.Frontiers in molecular neuroscience · 2023Article
- Automatic vocalisation-based detection of fragile X syndrome and Rett syndrome.Scientific reports · 2022Article
- Genomic Strategies for Understanding the Pathophysiology of Autism Spectrum Disorder.Frontiers in molecular neuroscience · 2022Review
- Rethinking Measurement Standards of Autism Symptomology in Adolescents with Fragile X Syndrome.Journal of autism and developmental disorders · 2021Article
- Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study.Annals of neurology · 2021Observational
- Autism Spectrum Disorder and Genetic Testing: Parents' Attitudes-Data from Turkish Sample.Journal of autism and developmental disorders · 2021Article
- Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.Journal of autism and developmental disorders · 2021Article
- Patterns of Restricted and Repetitive Behaviors in Autism Spectrum Disorders: A Cross-Sectional Video Recording Study. Preliminary Report.Brain sciences · 2021Article
- Effects of clonidine on progressive ratio schedule performance in Fmr1 knockout mice.Psychopharmacology · 2021Article
- Neural Correlates of Auditory Hypersensitivity in Fragile X Syndrome.Frontiers in psychiatry · 2021Review
- Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD).International journal of molecular sciences · 2020Review
- The Association Between Somatic Health, Autism Spectrum Disorder, and Autistic Traits.Behavior genetics · 2020Article
47 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them. A rigorous initial clinical screening is presented to avoid unnecessary laboratory and imaging studies. Regarding psychiatric nosography, the concept of "syndromal autism"--autism associated with other clinical signs should be promoted because it may help to distinguish patients who warrant a multidisciplinary approach and further investigation.
Indexed as
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What OpenQuestion holds
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.