Evidence map›Paper›PMID 36803654›Full record

ArticleJournal of neurodevelopmental disorders2023

Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome.

Armin Raznahan, Srishti Rau, Luke Schaffer, Siyuan Liu, Ari M Fish, Catherine Mankiw, Anastasia Xenophontos, Liv S Clasen, Lisa Joseph, Audrey Thurm and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neurodevelopmental disorders, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. 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

13 authors.

Armin RaznahanSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA. raznahana@mail.nih.gov.
Srishti RauSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA.
Luke SchafferSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA.
Siyuan LiuSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA.
Ari M FishSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA.
Catherine MankiwSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA.
Anastasia XenophontosSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA.
Liv S ClasenSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA.
Lisa JosephNeurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health Intramural Research Program, Bethesda, MD, USA.
Audrey ThurmNeurodevelopmental and Behavioral Phenotyping Service, Office of the Clinical Director, National Institute of Mental Health Intramural Research Program, Bethesda, MD, USA.
Jonathan D BlumenthalSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA.
Dani S BassettDepartments of Bioengineering, Electrical & Systems Engineering, Physics and Astronomy, Neurology and Psychiatry, University of Pennsylvania, Philadelphia, PA, USA.
Erin N TorresSection On Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health Intramural Research Program, Bethesda, MD, 20892, USA.

Funding

Section on Developmental NeurogenomicsZIAMH002949 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI RAZNAHAN, ARMIN · 2016 to 2025
$30.0M
Road Map to Precision Psychiatry: Comprehensive Investigation of Chromosomal Anomalies (PsychMap)R01MH124789 · NIMH · REGION HOVEDSTADEN · PI Thomas Mears Werge · 2021 to 2026
$2.5M
NIMH NIH HHS 1ZIAMH002949NIMH NIH HHS R01 MH124789-01
6 · The paper itself

Abstract

backgroundRecurrent gene dosage disorders impart substantial risk for psychopathology. Yet, understanding that risk is hampered by complex presentations that challenge classical diagnostic systems. Here, we present a suite of generalizable analytic approaches for parsing this clinical complexity, which we illustrate through application to XYY syndrome.

methodWe gathered high-dimensional measures of psychopathology in 64 XYY individuals and 60 XY controls, plus additional interviewer-based diagnostic data in the XYY group. We provide the first comprehensive diagnostic description of psychiatric morbidity in XYY syndrome and show how diagnostic morbidity relates to functioning, subthreshold symptoms, and ascertainment bias. We then map behavioral vulnerabilities and resilience across 67 behavioral dimensions before borrowing techniques from network science to resolve the mesoscale architecture of these dimensions and links to observable functional outcomes.

resultsCarriage of an extra Y-chromosome increases risk for diverse psychiatric diagnoses, with clinically impactful subthreshold symptomatology. Highest rates are seen for neurodevelopmental and affective disorders. A lower bound of < 25% of carriers are free of any diagnosis. Dimensional analysis of 67 scales details the profile of psychopathology in XYY, which survives control for ascertainment bias, specifies attentional and social domains as the most impacted, and refutes stigmatizing historical associations between XYY and violence. Network modeling compresses all measured symptom scales into 8 modules with dissociable links to cognitive ability, adaptive function, and caregiver strain. Hub modules offer efficient proxies for the full symptom network.

conclusionsThis study parses the complex behavioral phenotype of XYY syndrome by applying new and generalizable analytic approaches for analysis of deep-phenotypic psychiatric data in neurogenetic disorders.

Indexed as

Sex Chromosome DisordersXYY KaryotypeCognitionHumansMalePhenotypeAdaptive functionBehavioral phenotypingDeep phenotypingNeurogeneticsSex chromosomesSymptom networks

Identifiers

PMID36803654
PMCPMC9940341

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.