Evidence map›Paper›PMID 26667650›Full record

ArticleJournal of genetic counseling2016

Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia.

Kimberly Splinter, Anna-Kaisa Niemi, Rachel Cox, Julia Platt, Monisha Shah, Gregory M Enns, Mureo Kasahara, Jonathan A Bernstein

Open access · bronzeAbstract read
PubMed Publisher
In one paragraph

Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 3 pooled it
0.6field-weighted citation impact, top 30% 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

22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 29 citations in OpenAlex.

  1. Being the Pillar for Children with Rare Diseases-A Systematic Review on Parental Quality of Life.International journal of environmental research and public health · 2021
    Pooled it
  2. Guideline
  3. Measurement of health-related quality of life in pediatric organ transplantation recipients: a systematic review of the PedsQL transplant module.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2020
    Pooled it
  4. Trial
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  10. Measuring health-related quality of life in children with suspected genetic conditions: validation of the PedsQL proxy-report versions.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2024
    Article
  11. A novelHeliyon · 2024
    Article
  12. Review
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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

8 authors at 4 institutions in 2 countries.

Kimberly SplinterDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, USA. kimberly_splinter@hms.harvard.edu.
Anna-Kaisa NiemiDepartment of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.
Rachel CoxDepartment of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.
Julia PlattDepartment of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.
Monisha ShahDepartment of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.
Gregory M EnnsDepartment of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.
Mureo KasaharaTransplantation Center, National Center for Child Health and Development, Tokyo, Japan.
Jonathan A BernsteinDepartment of Pediatrics, Division of Medical Genetics, Stanford Children's Hospital, Stanford University, Stanford, CA, USA.
Stanford Health Care · USLucile Packard Children's Hospital · USHarvard University · USNational Center For Child Health and Development · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

An understanding of health related quality of life (HRQoL) in children and families affected by methylmalonic acidemia (MMA) is important in planning counseling and therapeutic intervention. Liver transplantation (LT) is used as a treatment for MMA; however, its risks and benefits continue to be investigated. The purpose of this study was twofold: (1) to measure HRQoL in children and families affected by MMA using the Pediatric Quality of Life Inventory (PedsQL™) parent version, and (2) to assess the impact of LT on HRQoL by comparing LT and non-LT patient scores and free responses. Parents/caregivers reported lower scores on the majority of the PedsQL™ scales as compared to samples of healthy children, children with solid organ transplants for indications other than MMA, and families affected by chronic conditions. Scores for children with MMA were lowest in school and social functioning and scores for families were lowest in worry and activity impairment. There were no significant differences in LT and non-LT patient scores on the PedsQL™ scales. Our results document the negative impact of MMA on HRQoL.

Indexed as

Quality of LifeAdolescentAmino Acid Metabolism, Inborn ErrorsCaregiversChildChild, PreschoolChronic DiseaseFemaleHumansMaleNuclear FamilySurveys and QuestionnairesHealth-related quality of lifeInborn error of metabolismLiver transplantationMethylmalonic acidemia

Identifiers

PMID26667650
OpenAlexW2209052788

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.