Evidence map›Paper›PMID 42650116›Full record

ReviewGenes2026

The Neurobehavioral Profile of Phelan-McDermid Syndrome: Suggestions for Assessment Tools in Light of the 2023 Consensus Guidelines.

Emily Payne, Sara M Sarasua, Curtis Rogers, Rebekah Martin, Katy Phelan, Laura Beamer, Luigi Boccuto

Abstract readReview
In one paragraph

Review in Genes, 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

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.

Emily PayneHealthcare Genetics and Genomics Program, School of Nursing, Clemson University, Clemson, SC 29634, USA.ORCID 0009-0005-0836-6095
Sara M SarasuaHealthcare Genetics and Genomics Program, School of Nursing, Clemson University, Clemson, SC 29634, USA.ORCID 0000-0002-1625-7404
Curtis RogersRCR Genetics, Greenville, SC 29601, USA.
Rebekah MartinHealthcare Genetics and Genomics Program, School of Nursing, Clemson University, Clemson, SC 29634, USA.ORCID 0000-0002-6424-8692
Katy PhelanGenetics Laboratory, Florida Cancer Specialists & Research Institute, Fort Myers, FL 33916, USA.ORCID 0000-0003-2457-6226
Laura BeamerGreenwood Genetic Center, Greenwood, SC 29646, USA.
Luigi BoccutoHealthcare Genetics and Genomics Program, School of Nursing, Clemson University, Clemson, SC 29634, USA.ORCID 0000-0003-2017-4270

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

OBJECTIVES AND

backgroundIndividuals with Phelan-McDermid Syndrome (PMS) present with a variety of symptoms, including a breadth of behavioral issues. Clinically assessing behavior in PMS remains challenging due to the overabundance of behavioral assessments and the lack of tools validated explicitly for use in individuals with intellectual disability (ID) and neurodevelopmental disorders. This review sought to suggest which assessment tools would best clinically assess behavior in individuals with PMS.

methodsValidated behavioral assessment tools were identified using a systematic search of the literature, and relevant data for each assessment were extracted. The consensus guidelines for PMS were reviewed.

resultsThis review identified 131 validated assessment tools that were categorized by the intended age group and into specific behavioral domains: Autism spectrum disorder (ASD) screening, adaptive behavior, restricted and repetitive behaviors, challenging/disruptive behaviors, mental health screening, and other miscellaneous behaviors such as avoidance and impulsivity. DISCUSSION: Based on the 2023 consensus guidelines, suggestions were given on which tools would be best for assessing various symptoms and behaviors in PMS. Choosing the best assessment tools to appraise behavior and related symptoms in individuals with PMS will aid clinicians in decision-making and lead to more personalized treatment plans.

Indexed as

Chromosome DisordersAutism Spectrum DisorderChromosome DeletionChromosomes, Human, Pair 22ConsensusHumansIntellectual DisabilityPractice Guidelines as Topicassessment toolbehaviorclinical decision-makingconsensus guidelinesintellectual disabilityPhelan–McDermid Syndrome

Identifiers

PMID42650116
PMCPMC13512427

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.