Evidence map›Paper›PMID 31060595›Full record

ArticleOrphanet journal of rare diseases2019

The neuropsychological phenotype of Chediak-Higashi disease.

Talia N Shirazi, Joseph Snow, Lillian Ham, Greta B Raglan, Edythe A Wiggs, Angela C Summers, Camilo Toro, Wendy J Introne

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

Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.0field-weighted citation impact, top 23% 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

7 citing papers in PubMed, 16 citations in OpenAlex.

  1. Diffusion tensor imaging in Chediak Higashi Disease.medRxiv : the preprint server for health sciences · 2025
    Article
  2. Chedíak-Higashi Syndrome: Hair-to-toe spectrum.Seminars in pediatric neurology · 2024
    Review
  3. Advances in laboratory medicine · 2024
    Article
  4. Article
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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 2 institutions in 1 country.

Talia N ShiraziNational Institute of Mental Health, 10 Center Drive, MSC 1274, Bethesda, MD, 20892, USA.
Joseph SnowNational Institute of Mental Health, 10 Center Drive, MSC 1274, Bethesda, MD, 20892, USA. JosephSnow@mail.nih.gov.
Lillian HamNational Institute of Mental Health, 10 Center Drive, MSC 1274, Bethesda, MD, 20892, USA.
Greta B RaglanNational Institute of Mental Health, 10 Center Drive, MSC 1274, Bethesda, MD, 20892, USA.
Edythe A WiggsNational Human Genome Research Institute, Bethesda, MD, USA.
Angela C SummersNational Institute of Mental Health, 10 Center Drive, MSC 1274, Bethesda, MD, 20892, USA.
Camilo ToroNational Human Genome Research Institute, Bethesda, MD, USA.
Wendy J IntroneNational Human Genome Research Institute, Bethesda, MD, USA.
National Institute of Mental Health · USNational Human Genome Research Institute · US

Funding

NHGRI NIH HHS n/aNIMH NIH HHS n/a
6 · The paper itself

Abstract

BACKGROUND/

objectivesChediak-Higashi Disease (CHD) is a rare autosomal disorder, purported to have cognitive and neurological impairments. Prior descriptions of cognitive impairment, however, are solely based on subjective, unstructured observations rather than on formal neuropsychological measures.

methodsFour pediatric and 14 adult patients with diagnostically confirmed CHD were administered a neuropsychological battery assessing memory, attention, processing speed, psychomotor speed, language fluency, executive function, and general intelligence. Nine of the adult patients received follow-up evaluations to elucidate the longitudinal progression or stability of cognition over time.

resultsPediatric CHD patients performed within the average range. Adult patients, however, performed below average on nearly all measures administered, and endorsed subjective reports of learning difficulties and poor academic performance in childhood. In particular, patients struggled with memory and psychomotor speed tasks, with 75% or more of patients scoring in the bottom 2.3 percentile in these two domains. No significant declines in cognition were observed among the patients who completed follow-up evaluations (M = 39.90, SD = 8.03 months between visits). Exploratory analyses suggested that adult patients who had classic CHD and previously received bone marrow transplants (BMTs; n = 3) exhibited moderately greater cognitive impairment than adult patients who had atypical CHD and had not received BMTs (n = 10).

conclusionsAdult patients with CHD uniformly exhibit deficits in multiple domains, but in psychomotor speed and memory, in particular. Based on their neuropsychological profile, their ability to hold jobs and succeed in school may require support and special accommodations. The source of cognitive deficits is probably multifactorial including central nervous system involvement in CHD, and, for those transplanted, BMT-related side effects and complications. Absence of cognitive decline at three-year follow-up is encouraging but does not exclude progression at a slower time-scale. Future work should elucidate the possible effects and timing of BMT on cognition, as well as the mechanisms driving neuropsychological impairment in CHD.

Indexed as

AdolescentAdultBone Marrow TransplantationChediak-Higashi SyndromeCognitionCognition DisordersFemaleHumansIntellectual DisabilityMaleNeuropsychological TestsNeuropsychologyYoung AdultBone marrow transplantChediak-Higashi diseaseIntellectual disabilityNeuropsychology

Identifiers

PMID31060595
PMCPMC6503440
OpenAlexW2947772214

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.