Evidence map›Paper›PMID 32462456›Full record

ArticleJournal of autism and developmental disorders2021

Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families.

Sonja LaBianca, Jette LaBianca, Anne Katrine Pagsberg, Klaus Damgaard Jakobsen, Vivek Appadurai, Alfonso Buil, Thomas Werge

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of autism and developmental disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
1.4field-weighted citation impact, top 20% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Sex-dependent prediction of autism.Frontiers in genetics · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
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

7 authors at 2 institutions in 1 country.

Sonja LaBiancaInstitute of Biological Psychiatry, Sct. Hans Hospital, Mental Health Center Capital Region of Denmark, Boserupvej 2, 4000, Roskilde, Denmark. sonja.labianca@regionh.dk.ORCID http://orcid.org/0000-0001-5644-6472
Jette LaBiancaPsychiatric Specialist Clinic, Copenhagen, Denmark.
Anne Katrine PagsbergChild and Adolescent Mental Health Centre, Mental Health Services in the Capital Region of Denmark, Copenhagen, Denmark.
Klaus Damgaard JakobsenPsychiatric Specialist Clinic, Fredensborg, Denmark.
Vivek AppaduraiInstitute of Biological Psychiatry, Sct. Hans Hospital, Mental Health Center Capital Region of Denmark, Boserupvej 2, 4000, Roskilde, Denmark.
Alfonso BuilInstitute of Biological Psychiatry, Sct. Hans Hospital, Mental Health Center Capital Region of Denmark, Boserupvej 2, 4000, Roskilde, Denmark.
Thomas WergeInstitute of Biological Psychiatry, Sct. Hans Hospital, Mental Health Center Capital Region of Denmark, Boserupvej 2, 4000, Roskilde, Denmark.
Sankt Hans Hospital · DKMental Health Services · DK

Funding

Fonden for Faglig Udvikling af Speciallægepraksis No 38850/16Lundbeckfonden No R208-2015-3951
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we estimated the overall variance explained by known rare copy number variants (CNVs) and polygenic risk score (PRS) from common variants to be 10% in comorbid ASD/ADHD, 4% in ASD and 2% in ADHD. We show that burden of large, rare CNVs and PRS is significantly higher in adult ASD and/or ADHD patients with sustained need for specialist care compared to their unaffected relatives, while affected relatives fall in-between the two.

Indexed as

AdolescentAdultAttention Deficit Disorder with HyperactivityAutistic DisorderChildComorbidityDenmarkDNA Copy Number VariationsFemaleHumansMaleMultifactorial InheritancePredictive Value of TestsRisk FactorsAttention deficit/hyperactivity disorderAutism spectrum disorderComorbidityCopy number variantsFamiliesPolygenic risk score

Identifiers

PMID32462456
OpenAlexW3031509652

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.