Previously unrecognized behavioral phenotype in Gaucher disease type 3.

Magy Abdelwahab, Michael Potegal, Elsa G Shapiro, Igor Nestrasil

Open access · goldAbstract read

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Article in Neurology. Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it

0cells of the map it votes in

5citing papers in PubMed

0.9field-weighted citation impact, top 25% 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

5 citing papers in PubMed, 11 citations in OpenAlex.

A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment.Acta neurologica Belgica · 2024
Review
Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy.eLife · 2022
Article
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.Molecular genetics and metabolism · 2021
Review
The definition of neuronopathic Gaucher disease.Journal of inherited metabolic disease · 2020
Article
Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease.PloS one · 2020
Article

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

4 authors at 1 institution in 1 country.

Magy AbdelwahabDepartment of Pediatric Hematology (M.A.), Cairo University Pediatric Hospital, Egypt; and Program in Occupational Therapy (M.P.), and Division of Clinical Behavioral Neuroscience (E.G.S., I.N.), Department of Pediatrics, University of Minnesota, Minneapolis.

Michael PotegalDepartment of Pediatric Hematology (M.A.), Cairo University Pediatric Hospital, Egypt; and Program in Occupational Therapy (M.P.), and Division of Clinical Behavioral Neuroscience (E.G.S., I.N.), Department of Pediatrics, University of Minnesota, Minneapolis.

Elsa G ShapiroDepartment of Pediatric Hematology (M.A.), Cairo University Pediatric Hospital, Egypt; and Program in Occupational Therapy (M.P.), and Division of Clinical Behavioral Neuroscience (E.G.S., I.N.), Department of Pediatrics, University of Minnesota, Minneapolis.

Igor NestrasilDepartment of Pediatric Hematology (M.A.), Cairo University Pediatric Hospital, Egypt; and Program in Occupational Therapy (M.P.), and Division of Clinical Behavioral Neuroscience (E.G.S., I.N.), Department of Pediatrics, University of Minnesota, Minneapolis.

Cairo University · EG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo provide a comprehensive description of abnormal behaviors in patients with Gaucher disease type 3 (GD3) and relate these behaviors to demographic, neurodevelopmental, and neurologic characteristics.

methodsThirty-four Egyptian patients with GD3 (mean age of 7.9 years) were enrolled in the study. They were selected based on parent report and/or physician observation of one or more abnormal behaviors documented in 2 settings and by 2 different individuals and/or by video recording. Behaviors were grouped into 4 categories: Crying/Withdrawal, Impatience/Overactivity, Anger/Aggression, and Repetitive Acts. Baseline and follow-up 6-12 monthly neurologic evaluations included IQ assessment and an EEG. All patients were receiving enzyme replacement therapy (30-60 IU/kg every 2 weeks) and were followed for periods of 3-10 years.

resultsSupranuclear palsy of horizontal gaze, and of both horizontal and vertical gaze, bulbar symptoms, seizures, convergent strabismus, abnormal gait, and neck retroflexion were present in 97.1%, 50%, 55.9%, 29.4%, 29.4%, 20.6%, and 4.4% of patients, respectively. The most abnormal behavioral features were excessive anger (88.2%) and aggression (64.7%), and both were significantly higher in males. Anger/Aggression scores were highly correlated with IQ but not with either EEG/Seizure status or neurologic signs.

conclusionsWe describe behavioral problems with a unique pattern of excessive anger and aggression in patients with GD3. Defining these components using quantitative behavioral scoring methods holds promise to provide a marker of neurologic disease progression and severity.

Identifiers

PMID28634598

DOI10.1212/NXG.0000000000000158

PMCPMC5458667

OpenAlexW2618589719

What OpenQuestion holds

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LicenceCC BY-NC-ND

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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.