ArticleEuropean journal of pediatrics2008
The diagnosis of autism in a female: could it be Rett syndrome?
Article in European journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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.
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
28 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Malocclusion characteristics amongst individuals with autism spectrum disorder: a systematic review and meta-analysis.BMC oral health · 2022Pooled it
- Atypical case of Rett syndrome with concurrentWorld journal of clinical pediatrics · 2025Article
- The CaInternational journal of molecular sciences · 2025Review
- Behavioral and Psychiatric Disorders in Syndromic Autism.Brain sciences · 2024Review
- Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials.Brain sciences · 2024Review
- Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder.Genes · 2022Review
- Reviewing Evidence for the Relationship of EEG Abnormalities and RTT Phenotype Paralleled by Insights from Animal Studies.International journal of molecular sciences · 2021Review
- Autism Spectrum Disorder Versus Autism Spectrum Disorders: Terminology, Concepts, and Clinical Practice.Frontiers in psychiatry · 2020Article
- Behavioral profiles in Rett syndrome: Data from the natural history study.Brain & development · 2019Article
- Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.Dialogues in clinical neuroscience · 2017Review
- Prevalence of four Mendelian disorders associated with autism in 2392 affected families.Journal of human genetics · 2017Article
- Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.International journal of molecular sciences · 2017Review
- Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.The Journal of pediatrics · 2016Article
- Neurobiologically-based treatments in Rett syndrome: opportunities and challenges.Expert opinion on orphan drugs · 2016Review
- Autism spectrum disorder and epilepsy: Disorders with a shared biology.Epilepsy & behavior : E&B · 2015Review
- Rett syndrome and MeCP2.Neuromolecular medicine · 2014Review
- Brief report: MECP2 mutations in people without Rett syndrome.Journal of autism and developmental disorders · 2014Article
- Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms.Frontiers in psychiatry · 2014Review
- A review of the role of female gender in autism spectrum disorders.Journal of autism and developmental disorders · 2013Review
- TARGETED TREATMENTS IN AUTISM AND FRAGILE X SYNDROME.Research in autism spectrum disorders · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The overlap between autism and Rett syndrome clinical features has led to many cases of Rett syndrome being initially diagnosed with infantile autism or as having some autistic features. Both conditions seriously disrupt social and language development and are often accompanied by repetitive, nonpurposeful stereotypic hand movements. The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether or not a diagnosis of autism had been proposed before Rett syndrome had been diagnosed and compare the spectrum of methyl-CpG binding protein 2 (MECP2) mutations identified among the two groups. This study made use of a total of 313 cases recorded in two databases: the Australian Rett Syndrome Database (ARSD) and the International Rett Syndrome Phenotype Database (InterRett). Cases with an initial diagnosis of autism had significantly milder Rett syndrome symptoms and were more likely to remain ambulant, to have some functional hand use and not to have developed a scoliosis. Females with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial diagnosis of autism, and the specific Rett syndrome symptoms were noted at a later age. We recommend that females who are initially considered to have autism be carefully monitored for the evolution of the signs and symptoms of Rett syndrome.
Indexed as
Identifiers
17684768What 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.