Evidence map›Paper›PMID 33752588›Full record

ArticleJournal of neurodevelopmental disorders2021

Modeling familial predictors of proband outcomes in neurogenetic disorders: initial application in XYY syndrome.

Kathleen E Wilson, Ari M Fish, Catherine Mankiw, Anastasia Xenophontos, Allysa Warling, Ethan Whitman, Liv Clasen, Erin Torres, Jonathan Blumenthal, Armin Raznahan

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

Article in Journal of neurodevelopmental disorders, 2021. 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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 39% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. 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

10 authors at 2 institutions in 1 country.

Kathleen E WilsonSection on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Building 10 Room 4N242 MSC 1367, 10 Center Drive, Bethesda, MD, 20892-1367, USA.
Ari M FishSection on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Building 10 Room 4N242 MSC 1367, 10 Center Drive, Bethesda, MD, 20892-1367, USA.
Catherine MankiwSection on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Building 10 Room 4N242 MSC 1367, 10 Center Drive, Bethesda, MD, 20892-1367, USA.
Anastasia XenophontosSection on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Building 10 Room 4N242 MSC 1367, 10 Center Drive, Bethesda, MD, 20892-1367, USA.
Allysa WarlingSection on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Building 10 Room 4N242 MSC 1367, 10 Center Drive, Bethesda, MD, 20892-1367, USA.
Ethan WhitmanSection on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Building 10 Room 4N242 MSC 1367, 10 Center Drive, Bethesda, MD, 20892-1367, USA.
Liv ClasenSection on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Building 10 Room 4N242 MSC 1367, 10 Center Drive, Bethesda, MD, 20892-1367, USA.
Erin TorresSection on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Building 10 Room 4N242 MSC 1367, 10 Center Drive, Bethesda, MD, 20892-1367, USA.
Jonathan BlumenthalSection on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Building 10 Room 4N242 MSC 1367, 10 Center Drive, Bethesda, MD, 20892-1367, USA.
Armin RaznahanSection on Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health, Building 10 Room 4N242 MSC 1367, 10 Center Drive, Bethesda, MD, 20892-1367, USA. raznahana@mail.nih.gov.
National Institute of Mental Health · USNational Institutes of Health · US

Funding

Section on Developmental NeurogenomicsZIAMH002949 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI RAZNAHAN, ARMIN · 2016 to 2025
$30.0M
NIMH NIH HHS ZIA MH002949-04
6 · The paper itself

Abstract

backgroundDisorders of gene dosage can significantly increase risk for psychopathology, but outcomes vary greatly amongst carriers of any given chromosomal aneuploidy or sub-chromosomal copy number variation (CNV). One potential path to advance precision medicine for neurogenetic disorders is modeling penetrance in probands relative to observed phenotypes in their non-carrier relatives. Here, we seek to advance this general analytic framework by developing new methods in application to XYY syndrome-a sex chromosome aneuploidy that is known to increase risk for psychopathology.

methodsWe analyzed a range of cognitive and behavioral domains in XYY probands and their non-carrier family members (n = 58 families), including general cognitive ability (FSIQ), as well as continuous measures of traits related to autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). Proband and relative scores were compared using covariance, regression and cluster analysis. Comparisons were made both within and across traits.

resultsProband scores were shifted away from family scores with effect sizes varying between 0.9 and 2.4 across traits. Only FSIQ and vocabulary scores showed a significant positive correlation between probands and their non-carrier relatives across families (R

conclusionsWe present a suite of generalizable methods for modeling variable penetrance in aneuploidy and CNV carriers using family data. These methods update estimates of phenotypic penetrance for XYY and suggest that the predictive utility of family data is likely to vary for different traits and different gene dosage disorders. TRIAL REGISTRATIONS: ClinicalTrials.gov NCT00001246 , "89-M-0006: Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Controls." Date of registry: 01 October 1989.

Indexed as

Sex Chromosome DisordersXYY KaryotypeAdolescentAdultAutism Spectrum DisorderChildChild, PreschoolDNA Copy Number VariationsFamilyHumansMaleYoung AdultCopy number variantsModeling penetranceNeurogenetic disordersPrecision psychiatrySex chromosome aneuploidies

Identifiers

PMID33752588
PMCPMC7986517
OpenAlexW3106794824

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.