Evidence map›Paper›PMID 26306707›Full record

ArticleOrphanet journal of rare diseases2015

Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.

Lindsay M Oberman, Luigi Boccuto, Lauren Cascio, Sara Sarasua, Walter E Kaufmann

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
51citing papers in PubMed, 2 pooled it
8.2field-weighted citation impact, top 2% 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

51 citing papers in PubMed, 2 syntheses or guidelines pooled it, 128 citations in OpenAlex.

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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

5 authors at 3 institutions in 1 country.

Lindsay M ObermanDepartment of Neurology, Boston Children's Hospital, and Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA. loberman@lifespan.org.
Luigi BoccutoJC Self Research Institute, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC, 29646, USA. lboccuto@ggc.org.
Lauren CascioJC Self Research Institute, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC, 29646, USA. lcascio@ggc.org.
Sara SarasuaJC Self Research Institute, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC, 29646, USA. ssarasua@ggc.org.
Walter E KaufmannDepartment of Neurology, Boston Children's Hospital, and Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA. Walter.Kaufmann@childrens.harvard.edu.
Greenwood Genetic Center · USBoston Children's Hospital · USHarvard University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPhelan-McDermid syndrome (PMS) is a neurodevelopmental disorder associated with a terminal deletion affecting chromosome 22 (22q13) that results in the loss of function of the SHANK3 gene. SHANK3 has also been identified in gene-linkage studies to be associated with autism spectrum disorder (ASD). Diagnosis of ASD in individuals with PMS is complicated by the presence of moderate to profound global developmental delay/intellectual disability as well as other co-morbid systemic and neurological symptoms.

methodsThe current study aimed to characterize the symptoms of ASD in patients with PMS and to do a preliminary exploration of genotype-ASD phenotype correlations. We conducted a standardized interview with 40 parents/guardians of children with PMS. Further, we conducted analyses on the relationship between disruption of SHANK3 and adjacent genes on specific characteristic symptoms of ASD in PMS in small subset of the sample.

resultsThe majority of PMS participants in our sample displayed persistent deficits in Social communication, but only half met diagnostic criteria under the restricted, repetitive patterns of behavior, interests, or activities domain. Furthermore, logistic regressions indicated that general developmental delay significantly contributed to the ASD diagnosis. The analyses relating the PMS genotype to the behavioral phenotype revealed additional complex relationships with contributions of genes in both deleted and preserved SHANK3 regions to the ASD phenotype and other neurobehavioral impairments.

conclusionsThere appears to be a unique behavioral phenotype associated with ASD in individuals with PMS. There also appears to be contributions of genes in both deleted and preserved SHANK3 regions to the ASD phenotype and other neurobehavioral impairments. Better characterization of the behavioral phenotype using additional standardized assessments and further analyses exploring the relationship between the PMS genotype and behavioral phenotype in a larger sample are warranted.

Indexed as

GenotypePhenotypeAdolescentAutism Spectrum DisorderChildChild, PreschoolChromosome DeletionChromosome DisordersChromosomes, Human, Pair 22Cohort StudiesFemaleHumansMale

Identifiers

PMID26306707
PMCPMC4549933
OpenAlexW1957778050

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.