Evidence map›Paper›PMID 40102980›Full record

ArticleOrphanet journal of rare diseases2025

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Odelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, Neta Feinstein-Goren, Aviva Eliyahu, Hagit Shani, Elon Pras, Tal Weissbach, Yoav Bolkier, Gali Heimer and 15 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2025. 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

25 authors.

Odelia ChorinInstitute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. odelia.chorin@sheba.health.gov.il.ORCID http://orcid.org/0000-0001-8968-0732
Lior GreenbaumThe Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
Shelly Lev-HochbergInstitute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
Neta Feinstein-GorenThe Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
Aviva EliyahuThe Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
Hagit ShaniThe Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
Elon PrasThe Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
Tal WeissbachFaculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.
Yoav BolkierFaculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.
Gali HeimerFaculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.
Dorit LevFaculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.
Marina MichelsonFaculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.
Miriam RegevThe Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
Sagi JosefsbergThe Genetics Institute, Kaplan Medical Center, Rehovot, Israel.
Nurit Assia BatzirPediatrics Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel.
Adel ShalataGenetics Institute, Bnai Zion Medical Center, Haifa, Israel.
Ronen SpiegelRuth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Reeval SegelShaare Zedek Medical Center, Wolf Children's Hospital, Jerusalem, Israel.
Orit LobelShaare Zedek Medical Center, Wolf Children's Hospital, Jerusalem, Israel.
Bassam Abu-LibdehDepartment of Pediatrics, Makassed Hospital and Faculty of Medicine, Al-Quds University, East Jerusalem, Israel.
Mordechai ShohatFaculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.
Moshe FrydmanThe Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
Ronen Hady-CohenFaculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.
Ben Pode-ShakkedInstitute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
Annick Rein-RothschildInstitute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPhelan-McDermid syndrome (PMS) is a neurodevelopmental disorder, caused by haploinsufficiency of the SHANK3 gene. In addition to global developmental delay (GDD)/intellectual disability (ID) and autism spectrum disorder (ASD), PMS is characterized by multiple neurologic, behavioral and multisystemic manifestations.

methodsWe aimed to establish a database of individuals with PMS in Israel. All participants underwent a detailed evaluation at a single medical center, and demographic, clinical, and genetic data were collected.

resultsSeventeen unrelated individuals with PMS (mean age 10 ± 8.2 years; range, 2.5-36 years) were enrolled (10 females, 59%), all of Jewish descent. Twelve cases (70%) were caused by deletions in chromosomal region 22q13.3, including mosaicism, ring chromosome and unbalanced translocation. The other 5 (30%) cases were due to single nucleotide variants (SNVs), while the de novo SNV c.3904dup (p.Ala1302GlyfsTer69), recurred in 3 cases. All 17 participants had GDD/ID (which was severe in 10, 59%), and ASD and seizures were present in 12 (70%) and 8 (47%) individuals, respectively. Additional frequent manifestations were sleep difficulties in 13 individuals (76%), bowel movement disorders in 13 (76%), urinary track involvement in 8 (47%) and endocrine disorders in 6 (35%). Abnormal but nonspecific findings on prenatal ultrasonography were noted in 3 participants (18%). The most common perinatal complication was prolonged jaundice in 5 infants (29%). Different medical treatment modalities, including cannabidiol (CBD) full-spectrum oil extracts, were used to ease symptoms, with variable results.

conclusionsOur experience adds to current knowledge about clinical manifestations and potential symptomatic treatment of PMS in Israel. These findings may promote clinical research and serve as infrastructure for future clinical trials.

Indexed as

Chromosome DisordersAdolescentAdultAutism Spectrum DisorderChildChild, PreschoolChromosome DeletionChromosomes, Human, Pair 22FemaleHumansIsraelMaleNerve Tissue ProteinsYoung AdultNerve Tissue ProteinsAutism spectrum disorderCopy number variantIntellectual disabilityPhelan–McDermid syndromeSHANK3Single nucleotide variant

Identifiers

PMID40102980
PMCPMC11917011

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