Evidence map›Paper›PMID 42244324›Full record

ReviewZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences2026

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Haolin Duan, Juan Xiong, Nan Pang, Fei Yin, Jing Peng

Abstract readReviewEnglish Abstract
PubMed Full text at PMC Publisher
In one paragraph

Review in Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2026. 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

5 authors.

Haolin DuanChildren's Medical Center, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Changsha 410008, China. 218102082@csu.edu.cn.
Juan XiongChildren's Medical Center, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Changsha 410008, China.
Nan PangChildren's Medical Center, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Changsha 410008, China.
Fei YinChildren's Medical Center, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Changsha 410008, China.
Jing PengChildren's Medical Center, Xiangya Hospital, Central South University; Research Center of Children Intellectual Disability of Hunan Province; Clinical Research Center for Children Neurodevelopmental Disabilities of Hunan Province, Changsha 410008, China. pengjing@csu.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesHouge type of X-linked syndromic intellectual developmental disorder (MRXSHG) caused by

methodsA retrospective analysis was conducted on the clinical data of 7 children diagnosed with

resultsThe reported age ranged from 4 months to 62 years, with a male-to-female ratio of 11.2꞉1. Major clinical manifestations included global developmental delay/intellectual disability (100%, 49/49), epilepsy (91.8%, 45/49), attention deficit hyperactivity disorder (77.6%, 38/49), absence of speech (75.5%, 37/49), and sleep disturbances (28.6%, 14/49). Among 36 patients with available sleep electroencephalogram data, 16 (44.4%) exhibited ESES. A minority of patients also presented with feeding difficulties (12.2%, 6/49), autism spectrum disorder (10.2%, 5/49), abnormal muscle tone (6.1%, 3/49), microcephaly (6.1%, 3/49), and facial dysmorphism (4.1%, 2/49). Four patients from our center exhibited short stature and/or malnutrition, which have not been previously reported. Among 34 patients with known epilepsy outcomes, 14 (41.2%) achieved seizure control with valproate, carbamazepine, or lamotrigine; 16 (47.1%) had refractory epilepsy; and 4 (11.8%) were untreated, had unclear seizure status, or were still undergoing treatment adjustment.

conclusionsFor male patients presenting with intellectual disability and prominent language delay, particularly those with refractory epilepsy and ESES, MRXSHG caused by

Indexed as

Intellectual DisabilityMutationNerve Tissue ProteinsX-Linked Intellectual DisabilityAdaptor Proteins, Signal TransducingAdolescentChildChild, PreschoolEpilepsyExome SequencingFemaleHumansInfantMaleRetrospective StudiesAdaptor Proteins, Signal TransducingCNKSR2 protein, humanNerve Tissue Proteinsattention deficit hyperactivity disorderCNKSR2 geneelectrical status epilepticus during sleepepilepsyHouge type of X-linked syndromic intellectual developmental disorder

Identifiers

PMID42244324
PMCPMC13229662

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Registered trials

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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.