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

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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

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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.

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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

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

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