Evidence map›Paper›PMID 35372156›Full record

ArticleFrontiers in pediatrics2022

Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin.

Carole A Samango-Sprouse, Mary P Hamzik, Kenneth Rosenbaum, Kosar Khaksari, Francie Mitchell, Ritika Kommareddi, Michaela R Brooks, Elizabeth Tipton, Teresa Sadeghin, Andrea L Gropman

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

Article in Frontiers in pediatrics, 2022. 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
0.2field-weighted citation impact, top 41% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

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

10 authors at 2 institutions in 1 country.

Carole A Samango-SprouseDepartment of Pediatrics, George Washington University, Washington, DC, United States.
Mary P HamzikDepartment of Research, The Focus Foundation, Davidsonville, MD, United States.
Kenneth RosenbaumDivision of Genetics and Metabolism, Children's National Health System, Washington, DC, United States.
Kosar KhaksariDepartment of Research, The Focus Foundation, Davidsonville, MD, United States.
Francie MitchellDepartment of Research, The Focus Foundation, Davidsonville, MD, United States.
Ritika KommareddiDepartment of Research, The Focus Foundation, Davidsonville, MD, United States.
Michaela R BrooksDepartment of Research, The Focus Foundation, Davidsonville, MD, United States.
Elizabeth TiptonDepartment of Research, The Focus Foundation, Davidsonville, MD, United States.
Teresa SadeghinDepartment of Research, The Focus Foundation, Davidsonville, MD, United States.
Andrea L GropmanDivision of Neurogenetics and Developments Pediatrics, Children's National Health System, Washington, DC, United States.
George Washington University · USChildren's National · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pallister-Killian syndrome is an uncommon genetic disorder that has broad developmental and multisystemic effects. While medical complications are widely reported throughout the literature, research on the neurodevelopmental profile has been limited. Case reports make up the majority of the few existing studies regarding the neurodevelopmental phenotype associated with this disorder. The current case report describes a 3-year-old male with Pallister-Killian syndrome (AF), reports the neurodevelopmental evaluation of his unaffected twin brother (MF), and outlines the results of an optical imaging study on both boys. AF presents with severe developmental delays, however, he ambulates with support and engages in conversation using his communication device. Most severely impaired was AF's speech and expressive language, with childhood apraxia of speech (CAS) as a possible explanation for these severe deficits. MF, the sibling, demonstrated neurotypical abilities and often advanced scores for his age. Both subjects completed a functional near-infrared spectroscopy (fNIRS) study, revealing decreased temporal and frontal lobe function in AF and typical functioning in MF. This case report expands on the existing literature on PKS by describing variances in fraternal twin presentation and novel reporting on fNIRS findings in both boys.

Indexed as

functional near-infrared spectroscopygeneticsneurodevelopmentPallister-Killian syndromephenotypetwin study

Identifiers

PMID35372156
PMCPMC8965074
OpenAlexW4220821240

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.