Evidence map›Paper›PMID 24464091›Full record

SynthesisEuropean journal of pediatrics2014

Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature.

Lucia Margari, Anna Linda Lamanna, Francesco Craig, Marta Simone, Mattia Gentile

Abstract readCase ReportsSystematic Review
PubMed Publisher
In one paragraph

Synthesis in European journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
4.4field-weighted citation impact, top 5% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 36 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2019
    Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Review
  10. Review
  11. XYY syndrome: a 13-year-old boy with tall stature.Annals of pediatric endocrinology & metabolism · 2015
    Article
  12. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Lucia MargariUnit of Child Neuropsychiatry, Department of Basic Medical Sciences, Neuroscience and Sense Organs, "Aldo Moro" University of Bari, Bari, Italy, lucia.margari@uniba.it.
Anna Linda Lamanna
Francesco Craig
Marta Simone
Mattia Gentile
University of Bari Aldo Moro · ITGastroenterology Hospital "Saverio de Bellis" · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

unlabelledAbnormalities of the sex chromosomes (47, XXY, 47 XYY, 45,X/46,XY mosaicism) are frequently associated with Autism Spectrum Disorders (ASD), but the male predisposition to these disorders has not been clearly explained. Previously, the role of the X chromosome was considered important in the ASD mainly because autistic symptoms were detected in genetic syndromes involving X chromosome (fragile X syndrome, Rett syndrome, Klinefelter syndrome). Instead, few studies have analyzed the possible role of the Y chromosome in the ASD. This study explores the role of the Y chromosome in ASD through a systematic literature review about the association between ASD and XYY syndrome and a description of two new cases with this association. The literature review considered studies published in peer-reviewed journals, included in the MEDLINE and PubMed databases, that examined the association between ASD and XYY syndrome. Few studies reported the occurrence of ASD in children with XYY karyotype and the majority of them did not reported a well-defined autism diagnostic category associated with an extra Y chromosome, but several clinical conditions that are generically described as language and social impairment.

conclusionThis study underlines the underestimated role of the Y chromosome in ASD, and we postulate that all the ASD associated with the XYY karyotype may presumably fall within mild degree of ASD as in our cases.

Indexed as

Sex Chromosome AberrationsSex Chromosome DisordersXYY KaryotypeChild Development Disorders, PervasiveChild, PreschoolHumansMale

Identifiers

PMID24464091
OpenAlexW2079899230

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.