Evidence map›Paper›PMID 38711055›Full record

ArticleBMC pediatrics2024

An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.

Yuto Arai, Tohru Okanishi, Tetsuya Okazaki, Hiroyuki Awano, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Akiko Tamasaki, Yoshihiro Maegaki

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC pediatrics, 2024. 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

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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

9 authors.

Yuto AraiDivision of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, 683-8504, Tottori, Japan.
Tohru OkanishiDivision of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, 683-8504, Tottori, Japan. okanishipediatrics@gmail.com.
Tetsuya OkazakiDepartment of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
Hiroyuki AwanoDepartment of Clinical Genetics, Tottori University Hospital, Yonago, Japan.
Rie SeyamaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yuri UchiyamaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Akiko TamasakiHakuai Child Development, Home Care Support Clinic, Tottori, Japan.
Yoshihiro MaegakiDivision of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 36-1 Nishi-Cho, Yonago, 683-8504, Tottori, Japan.

Funding

Japan Agency for Medical Research and Development JP23ek0109674JSPS KAKENHI JP23K07229
6 · The paper itself

Abstract

backgroundASXL3-related disorder, first described in 2013, is a genetic disorder with an autosomal dominant inheritance that is caused by a heterozygous loss-of-function variant in ASXL3. The most characteristic feature is neurodevelopmental delay with consistently limited speech. Feeding difficulty is a main symptom observed in infancy. However, no adolescent case has been reported. CASE PRESENTATION: A 14-year-old girl with ASXL3-related syndrome was referred to our hospital with subacute onset of emotional lability. Limbic encephalitis was ruled out by examination; however, the patient gradually showed a lack of interest in eating, with decreased diet volume. Consequently, she experienced significant weight loss. She experienced no symptoms of bulimia, or food allergy; therefore, avoidant/restrictive food intake disorder (ARFID) was clinically suspected.

conclusionsWe reported the first case of ASXL3-related disorder with adolescent onset of feeding difficulty. ARFID was considered a cause of the feeding difficulty.

Indexed as

Abnormalities, MultipleFaciesFeeding and Eating DisordersNeurodevelopmental DisordersAdolescentFemaleHumansRepressor ProteinsASXL3 protein, humanBainbridge-Ropers syndromeRepressor ProteinsASXL3-related disorderAvoidant/restrictive food intake disorderEmotional labilityFeeding difficultyWhole-exome sequencing

Identifiers

PMID38711055
PMCPMC11071253

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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.