Evidence map›Paper›PMID 41784758›Full record

ArticleJournal of autism and developmental disorders2026

Genetic Testing History in Adults With Autism Spectrum Disorder.

Susanna B Mierau, Robyn P Thom, Caitlin T Ravichandran, Amanda Nagy, Cashel Rice, Christina Macenski, Christopher J Keary, Michelle L Palumbo, Christopher J McDougle, Ann M Neumeyer

Abstract read
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Article in Journal of autism and developmental disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Susanna B MierauMassachusetts General Hospital Lurie Center for Autism, 1 Maguire Rd, Lexington, MA, 02421, USA.ORCID http://orcid.org/0000-0002-1220-6423
Robyn P ThomMassachusetts General Hospital Lurie Center for Autism, 1 Maguire Rd, Lexington, MA, 02421, USA.
Caitlin T RavichandranMassachusetts General Hospital Lurie Center for Autism, 1 Maguire Rd, Lexington, MA, 02421, USA.
Amanda NagyMassachusetts General Hospital Lurie Center for Autism, 1 Maguire Rd, Lexington, MA, 02421, USA.
Cashel RiceMassachusetts General Hospital Lurie Center for Autism, 1 Maguire Rd, Lexington, MA, 02421, USA.
Christina MacenskiMassachusetts General Hospital Lurie Center for Autism, 1 Maguire Rd, Lexington, MA, 02421, USA.
Christopher J KearyMassachusetts General Hospital Lurie Center for Autism, 1 Maguire Rd, Lexington, MA, 02421, USA.
Michelle L PalumboMassachusetts General Hospital Lurie Center for Autism, 1 Maguire Rd, Lexington, MA, 02421, USA.
Christopher J McDougleMassachusetts General Hospital Lurie Center for Autism, 1 Maguire Rd, Lexington, MA, 02421, USA.
Ann M NeumeyerMassachusetts General Hospital Lurie Center for Autism, 1 Maguire Rd, Lexington, MA, 02421, USA. ANEUMEYER@mgh.harvard.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeMany genes have been identified in autism spectrum disorder (ASD). Yet how many adults with ASD receive recommended genetic testing and their outcomes is unknown. We investigated the percentage of adults with ASD with documented genetic testing in our ASD specialty clinic and the percentage with positive findings.

methodsAdults were identified through search of our data repository and ASD diagnoses confirmed using record review by psychiatrists specializing in ASD. Patients were included (N = 630) who had at least one visit with a qualifying clinician between 5/1/2010 and 12/15/2020. Data were collected through manual retrospective record review.

resultsOnly 41% of the adults with ASD (261/630) had a documented history of genetic testing. Genetic testing was declined by patients or families for 11% of records and not recorded in 47%. Mean (SD; range) age for the 261 adults was 28.5 (5.3; 22-58) years; 26% were female and 73% had intellectual disability (ID). The genetic testing method was recorded in 91% (238). Only 54% of these patients had testing using a recommended method (chromosomal array, autism/ID sequencing panel, or exome sequencing). Few adults received testing with sequencing technologies. A genetic cause of ASD was found in 28%.

conclusionASD-related genetic testing is underutilized in adults with ASD. Nearly half of the adults in our sample lacked documentation of genetic testing. Adults with ASD may benefit from having their genetic testing history reviewed in the clinic and the recommended testing performed.

Indexed as

AdultsAutism spectrum disorderGenetic testingGene variantsHealthcare accessSequencing

Identifiers

PMID41784758

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Registered trials

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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.