CoChat
Sign Up
Cited by 261Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability researchWilliams Syndrome Research

The DOI matches its Crossref record; 42 of the 42 references it cites were found in a registry or an index.

The fra(X) syndrome: Neurological, electrophysiological, and neuropathological abnormalities

Wisniewski, K. E., Segan, S. M., Miezejeski, C. M., Sersen, E. A., Rudelli, R. D.·1991·American Journal of Medical Genetics
DOI 10.1002/ajmg.1320380267
Open this paper in CoChat — free account

Abstract

We have evaluated 62 fragile X syndrome [fra(X)] individuals (55 males and 7 females) with different degrees of developmental disabilities that were clinically non‐progressive and non‐focal in character. The mean age for the 55 males was 23.1 years ± 14.3 SD with a range of 2–70: for the 7 females, the mean age was 15.7 years ± 3.5 SD with a range of 10–20 years. Mental retardation (MR) was found in 53 males (8/53 [15.1%] mild, 26/53 [49.1%] moderate, 14/53 [26.4%] severe, and 5/53 [9.4%] profound). Learning disabilities were found in 2/55 (3.6%) of males. One of the 7 females had mild and one had moderate MR: the other 5 were learning disabled. Autistic stigmata were present in 10/62 (16%) of the patients. Only 14/62 (23%) had a history of seizures, all of which were controlled with anticonvulsants. In 36/62 cases, an electroencephalogram (EEG) was performed. We compared these data with that of others. Brain stem auditory evoked response (BAER) was performed in 12 cases. Abnormalities were found in only 5/12. Neuroimaging and computerized cranial transaxial tomography (CT scan) were performed on 21/62 (34%) of the patients. Only 8 of these 21 (38%) studies were abnormal. One patient died; neuropathological studies showed mild brain atrophy, with light microscopic and ultrastructural abnormalities. Rapid Golgi dendritic spine patterns showed that the proximal apical segments were abnormally developed. Very thin, long tortuous spines with prominent terminal heads and irregular dilatations were present. Marked reductions in the length of the synapses, as determined on EPTA‐postfixed tissue where noted. The mean synaptic contact area was 35% shorter than the normal length observed in controls. In summary, the neurological abnormalities are mainly in the cognitive function, seizures appear similar to the benign age‐related epilepsies, whereas the neuropathological abnormalities are in the wiring system, showing synaptic dysgenesis.

Overview

Integrity signals

Registry

Crossref · 10.1002/ajmg.1320380267

Cites

42 of 42 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Verification

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Citations

Cites

Flagged first, then by citations

Show all 42 references

Research works printed but not linked: 8

  1. Allan W, 1944, Some examples of the inheritance of mental deficiency: Apparently sex‐linked idiocy and microcephaly, Am J Ment Defic, 48, 325
  2. The Nervous System, 2, 67
  3. Brown WT, 1981, Screening for fragile X syndrome by testicular size measurement [letter], Lancet, 2, 1055
  4. Dunn HG, 1963, Mental retardation as a sex‐linked defect, Am J Ment Defic, 67, 827
  5. Fink M, 1968, Psychopharmacology: a Review of Progress, 1957–1967, 497
  6. BD:OAS, 1
  7. Pirozzolo FJ, 1985, Neurobehavioural Disorders, 1
  8. Turner G, 1982, Human Genetics Part B: Medical Aspects, 311

Cited by

Sorted by citations

Items 201–261 of 261

Related

See all

Metadata

Authors
Wisniewski, K. E., Segan, S. M., Miezejeski, C. M., Sersen, E. A., & Rudelli, R. D.
Affiliations
New York State Office for People With Developmental Disabilities (US)
Corresponding author
Wisniewski, K. E.
ORCID
Wisniewski, K. E.
Venue
American Journal of Medical Genetics
Publisher
Wiley
Published
1991-02
Volume
38
Issue
2-3
Pages
476-480
ISSN
  • 0148-7299 (ISSN-L)
  • 1096-8628
DOI
10.1002/ajmg.1320380267
OpenAlex
W1993755985
Cited by
261
References
42
Citations by year
2025: 4 · 2024: 4 · 2023: 6 · 2022: 7 · 2021: 6 · 2020: 8 · 2019: 8 · 2018: 8 · 2017: 7 · 2016: 5 · 2015: 6 · 2014: 8 · 2013: 12 · 2012: 11
FWCI
2.14
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 5240 d)
Locations
  • American Journal of Medical Genetics (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords
fragile X syndrome, intellectual disability, learning disabilities, autism spectrum disorder, seizures, EEG abnormalities, auditory brainstem response, brain atrophy, dendritic spines, neuropathology, neuroimaging abnormalities
MeSH terms
Adolescent, Adult, Aged, Autistic Disorder, Brain, Child, Child, Preschool, Electroencephalography, Female, Fragile X Syndrome, Humans, Learning Disabilities, Male, Intellectual Disability, Middle Aged, Muscle Hypotonia, Seizures

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review