Evidence map›Paper›PMID 30348076›Full record

Trial reportJournal of neurodevelopmental disorders2018

Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome.

Lisa Joseph, Cristan Farmer, Colby Chlebowski, Laura Henry, Ari Fish, Catherine Mankiw, Anastasia Xenophontos, Liv Clasen, Bethany Sauls, Jakob Seidlitz and 4 more

Registry-linked trialOpen access · goldAbstract readClinical Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in Journal of neurodevelopmental disorders, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00001246 (Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers), which is not on this map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.3field-weighted citation impact, top 12% 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.

NCT00001246 active not recruitingnot on this map

Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers

TypeobservationalSponsorNational Institute of Mental Health (NIMH)Ran1990Enrolled4,274ConditionsAttention Deficit Hyperactivity Disorder, Schizophrenia, Attention Deficit Disorder With Hyperactivity
3 · Its place in the literature

Who cites it

18 citing papers in PubMed, 36 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
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  5. Review
  6. Article
  7. Article
  8. Review
  9. Review
  10. Article
  11. Article
  12. Article
  13. Testicular function in boys with 47,XYY and relationship to phenotype.American journal of medical genetics. Part C, Seminars in medical genetics · 2020
    Article
  14. Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognition.American journal of medical genetics. Part C, Seminars in medical genetics · 2020
    Article
  15. Article
  16. Article
  17. Review
  18. 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

14 authors at 2 institutions in 1 country.

Lisa JosephOffice of the Clinical Director, National Institute of Mental Health, National Institute of Health, Bethesda, MD, USA.
Cristan FarmerOffice of the Clinical Director, National Institute of Mental Health, National Institute of Health, Bethesda, MD, USA.
Colby ChlebowskiOffice of the Clinical Director, National Institute of Mental Health, National Institute of Health, Bethesda, MD, USA.
Laura HenryOffice of the Clinical Director, National Institute of Mental Health, National Institute of Health, Bethesda, MD, USA.
Ari FishDevelopmental Neurogenomics Unit, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Catherine MankiwDevelopmental Neurogenomics Unit, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Anastasia XenophontosDevelopmental Neurogenomics Unit, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Liv ClasenDevelopmental Neurogenomics Unit, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Bethany SaulsOffice of the Clinical Director, National Institute of Mental Health, National Institute of Health, Bethesda, MD, USA.
Jakob SeidlitzDevelopmental Neurogenomics Unit, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Jonathan BlumenthalDevelopmental Neurogenomics Unit, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Erin TorresDevelopmental Neurogenomics Unit, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA.
Audrey ThurmOffice of the Clinical Director, National Institute of Mental Health, National Institute of Health, Bethesda, MD, USA.
Armin RaznahanDevelopmental Neurogenomics Unit, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA. raznahana@mail.nih.gov.
National Institute of Mental Health · USNational Institutes of Health · US

Funding

Pediatric Brain ImagingZIAMH002794 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI RAPOPORT, JUDITH L. · 2009 to 2015
$15.3M
Intramural NIH HHS ZIA MH002794
6 · The paper itself

Abstract

backgroundXYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data.

methodsWe evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD. Our goals were to (i) detail the neurodevelopmental profile of XYY with a focus on ASD diagnostic rates and symptom profiles, (ii) screen phenotypes for potential ascertainment bias effects by contrasting pre- vs. postnatally diagnosed XYY subgroups, and (iii) define major modules of phenotypic variation using graph-theoretical analysis.

resultsAlthough there was marked inter-individual variability, the average profile was characterized by some degree of developmental delay, and decreased IQ and adaptive behavior. Impairments were most pronounced for language and socio-communicative functioning. The rate of ASD was 14%, and these individuals exhibited autism symptom profiles resembling those observed in ASD without XYY. Most neurodevelopmental dimensions showed milder impairment among pre- vs. postnatally diagnosed individuals, with clinically meaningful differences in verbal IQ. Feature network analysis revealed three reliably separable modules comprising (i) cognition and academic achievement, (ii) broad domain psychopathology and adaptive behavior, and (iii) ASD-related features.

conclusionsBy adding granularity to our understanding of neurodevelopmental difficulties in XYY, these findings assist targeted clinical assessment of newly identified cases, motivate greater provision of specialized multidisciplinary support, and inform future efforts to integrate behavioral phenotypes in XYY with neurobiology. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls."

Indexed as

AdolescentAdultAutism Spectrum DisorderChildChild, PreschoolCohort StudiesHumansMaleNeuropsychological TestsPhenotypeSex Chromosome DisordersXYY KaryotypeYoung AdultAdaptive behaviorAutism spectrum disorder symptomsCognitive functioningLearning disabilitiesSex chromosome aneuploidies

Identifiers

PMID30348076
PMCPMC6198503
OpenAlexW2897065690

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.