Evidence map›Paper›PMID 38578549›Full record

ArticleJournal of autism and developmental disorders2025

Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.

Julia Wynn, Anna Karlsen, Benjamin Huber, Alina Levine, Amanie Salem, L Casey White, Marti Luby, Ekaterina Bezborodko, Sabrina Xiao, Wendy K Chung and 2 more

Abstract read
In one paragraph

Article in Journal of autism and developmental disorders, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 2 pooled it
3.8field-weighted citation impact, top 7% 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

11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 14 citations in OpenAlex.

  1. Systematic review of measures and interventions for caregiver adjustment to child autism diagnosis.Autism : the international journal of research and practice · 2026
    Pooled it
  2. Systematic Review: The Psychosocial Impacts of Autism-Related Genetic Testing.Journal of the American Academy of Child and Adolescent Psychiatry · 2026
    Pooled it
  3. Article
  4. Genetic Testing History in Adults With Autism Spectrum Disorder.Journal of autism and developmental disorders · 2026
    Article
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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

12 authors at 5 institutions in 1 country.

Julia WynnDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA. wynn.julia@gmail.com.ORCID http://orcid.org/0000-0002-5220-6022
Anna KarlsenColumbia University Genetic Counseling Graduate Program, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Benjamin HuberDepartment of Epidemiology, Columbia University Irving Medical Center, New York, NY, USA.
Alina LevineDepartment of Epidemiology, Columbia University Irving Medical Center, New York, NY, USA.
Amanie SalemDepartment of Psychiatry, Columbia University Irving Medical Center, New York, NY, USA.
L Casey WhiteSimons Foundation, New York, NY, USA.
Marti LubySimons Foundation, New York, NY, USA.
Ekaterina BezborodkoDepartment of Psychiatry, Columbia University Irving Medical Center, New York, NY, USA.
Sabrina XiaoSimons Foundation, New York, NY, USA.
Wendy K ChungDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Robert L KlitzmanDepartment of Psychiatry and Masters of Bioethics Program, and New York State Psychiatric Institute, Columbia University, New York, NY, USA.
Paul S AppelbaumDepartment of Psychiatry, and New York State Psychiatric Institute, Columbia University Irving Medical Center, New York, NY, USA.
Columbia University Irving Medical Center · USSimons Foundation · USColumbia University · USBoston Children's Hospital · USNew York Psychoanalytic Society and Institute · US

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral GeneticsRM1HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2018 to 2021
$4.4M
NHGRI NIH HHS RM1 HG007257NHGRI NIH HHS RM1HG007257NICHD NIH HHS P50 HD105351
6 · The paper itself

Abstract

Genetic testing is recommended as part of an autism assessment, and most parents support genetic testing for their minor children. However, the impact on parents of receiving a monogenetic/ copy number variant diagnosis for autism in their child is not well understood. To explore this, we surveyed and interviewed parents of children in the SPARK study, a study of autism that includes genetic testing. Surveys were administered one month before and one and 12 months after parents received their child's genetic result. Interviews were conducted approximately one month after results disclosure. A genetic diagnosis (GD) for their child appeared to reduce parents' sense of self-blame and feelings of guilt, and this impact was relatively stable. The data also indicate a modest impact on parents' actions related to the condition, perceptions of themselves, and some aspects of life planning for their child, as measured by quantitative instruments at one month and 12 months after receipt of results. Other measures of parental identity and expectations for their child, in contrast, showed little change following receipt of genetic findings. Overall, parents who were told that no GD was identified showed minimal changes in their responses over time. These results suggest a discernable but relatively limited impact of genetic test results on parents of children with autism. These results should be reassuring to clinicians caring for children with autism and are consistent with studies in other areas of medicine that have suggested that genetic results tend to have fewer effects-negative or positive-than were anticipated.

Indexed as

Autistic DisorderGenetic TestingParentsAdultChildChild, PreschoolFemaleGuiltHumansMaleSurveys and QuestionnairesAutismGenetic diagnosisGenetic testingImpact of genetic testing

Identifiers

PMID38578549
PMCPMC11452567
OpenAlexW4393994748

What OpenQuestion holds

Textmetadata
LicenceTDM
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.