A 28-Year-Old Woman with Secondary Amenorrhea and Family History of Mental Retardation (Fragile X Premutation)

2019 ◽  
pp. 47-50
Author(s):  
Frederick Friedman Jr
Keyword(s):  
Mental Retardation ◽  
Family History ◽  
Fragile X ◽  
Secondary Amenorrhea ◽  
Fragile X Premutation ◽  
History Of

Fragile X Syndrome: Recognition in Young Children

PEDIATRICS ◽  
1989 ◽  
Vol 83 (4) ◽  
pp. 547-552
Author(s):  
Aaron Simko ◽  
Lusia Hornstein ◽  
Shirley Soukup ◽  
Nancy Bagamery
Keyword(s):  
Mental Retardation ◽  
Family History ◽  
Young Children ◽  
Fragile X Syndrome ◽  
Developmental Disorders ◽  
Motor Coordination ◽  
Fragile X ◽  
Nasal Bridge ◽  
History Of ◽  
Physical Findings

In recent years, a number of articles have appeared in the literature concerning the fragile X syndrome; however, in few cases was the diagnosis of the syndrome in young children discussed. A review of 20 children younger than 7½ years of age who had the fragile x syndrome seen at the Cincinnati Center of Developmental Disorders was undertaken in an attempt to establish guidelines that would aid the practicing physician in determining which children should have a chromosomal analysis. All children were developmentally delayed; 95% had speech delays. Short attention span with hyperactivity, temper tantrums, mouthing of objects persisting at an age beyond when it would be expected, autistic behaviors, and poor gross motor coordination were seen in 50% or more of the children. Mental retardation was present in the family history of 65%, and 90% had a family history of at least one of the following mental retardation, learning disabilities, or hyperactivity. The most common physical findings were long and/or wide and/or protruding ears, prominent jaw and/or long face, high arched palate, and a flattened nasal bridge. The fragile x syndrome can be recognized by noting key aspects of the behavioral and family histories as well as the physical findings.

scholarly journals Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation

2022 ◽  
Vol 14 (1) ◽  
Author(s):  
Jessica Klusek ◽  
Amanda Fairchild ◽  
Carly Moser ◽  
Marsha R. Mailick ◽  
Angela John Thurman ◽  
...  
Keyword(s):  
Family History ◽  
Neurodegenerative Disease ◽  
Cognitive Skills ◽  
Fragile X ◽  
Repeat Length ◽  
Syntactic Complexity ◽  
Cgg Repeat ◽  
Age Related ◽  
Increased Risk ◽  
History Of

Abstract Background Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline are poorly understood, including the potential role of family history and genetic factors. In other forms of pathological aging, early decline in syntactic complexity is observed and predicts the later onset of neurodegenerative disease. To shed light on the earliest signs of degeneration, the present study characterized longitudinal changes in the syntactic complexity of women with the FMR1 premutation across midlife, and associations with family history of fragile X-associated tremor/ataxia syndrome (FXTAS) and CGG repeat length. Methods Forty-five women with the FMR1 premutation aged 35–64 years at study entry participated in 1–5 longitudinal assessments spaced approximately a year apart (130 observations total). All participants were mothers of children with confirmed fragile X syndrome. Language samples were analyzed for syntactic complexity and participants provided information on family history of FXTAS. CGG repeat length was determined via molecular genetic testing. Results Hierarchical linear models indicated that women who reported a family history of FXTAS exhibited faster age-related decline in syntactic complexity than those without a family history, with that difference emerging as the women reached their mid-50 s. CGG repeat length was not a significant predictor of age-related change. Conclusions Results suggest that women with the FMR1 premutation who have a family history of FXTAS may be at increased risk for neurodegenerative disease, as indicated by age-related loss of syntactic complexity. Thus, family history of FXTAS may represent a personalized risk factor for age-related disease. Follow-up study is needed to determine whether syntactic decline is an early indicator of FXTAS specifically, as opposed to being a more general age-related cognitive decline associated with the FMR1 premutation.

Fragile-X Syndrome Ascertained by the Presence of Macro-orchidism in a 5-Month-Old Infant

PEDIATRICS ◽  
1984 ◽  
Vol 74 (5) ◽  
pp. 883-886
Author(s):  
Rivka Carmi ◽  
David L. Meryash ◽  
John Wood ◽  
Park S. Gerald
Keyword(s):  
Mental Retardation ◽  
Family History ◽  
Physical Examination ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Actual Measurement ◽  
The Family ◽  
Careful Measurement ◽  
Prepubertal Boys ◽  
Testicular Size

The fragile-X syndrome, an X-linked form of mental retardation, is estimated to affect one in every 1,000 to 2,000 live-born male infants. Most commonly, fragile-X syndrome has been detected only after patients clearly demonstrate developmental delay, and frequently detection occurs only if the family history is consistent with X-linked mental retardation. Macro-orchidism is a finding commonly associated with the fragile-X syndrome. It has been suggested that the sparsity of reports of macro-orchidism among prepubertal boys with the fragile-X syndrome might be due to lack of careful measurement of the testes rather than to initiation of the enlargement at puberty. A 5-month-old infant with fragile-X syndrome, ascertained through testicular enlargement noted by actual measurement of testicular size as part of his physical examination, is reported.

MITOCHONDRIAL CYTOPATHY PRESENTING WITH CEREBELLAR ATAXIA

2015 ◽  
Vol 86 (11) ◽  
pp. e4.166-e4
Author(s):  
Emily Pegg ◽  
Katherine Dodd ◽  
Sandip Shaunak
Keyword(s):  
Family History ◽  
Cerebellar Ataxia ◽  
Fragile X ◽  
Mitochondrial Disorder ◽  
Cerebral Atrophy ◽  
Oligoclonal Bands ◽  
Spinocerebellar Ataxias ◽  
Antineuronal Antibodies ◽  
Mitochondrial Cytopathy ◽  
History Of

A previously fit and well 59 year old man presented with a 3 year history of slowly progressive decline in mobility with increasing unsteadiness and falls. He also reported clumsiness of both hands and his wife noted poor memory. There was no family history of note, including deafness and diabetes. He drank alcohol occasionally. On examination he had signs consistent with a cerebellar and pyramidal syndrome with subcortical cognitive impairment.An MRI scan of the brain and spine showed significant generalised cerebral atrophy. CSF protein was 0.80g/L, with normal cell count and no oligoclonal bands. Blood tests were normal or negative for antineuronal antibodies, vitamin E, coeliac disease, autoimmune screen. Genetic tests for spinocerebellar ataxias, Freidreich's, fragile X syndrome and DRPLA were also negative. Muscle biopsy revealed mitochondrial aggregation with COX negative fibres, in keeping with a mitochondrial disorder. Genetic testing found a novel mtDNA variant (p.GLY46Asp) at low levels within the MT-CO3 gene.He has subsequently developed myoclonus and generalised tonic clonic seizures but there is no evidence of other system involvement.Mitochondrial disorders should be considered in the differential diagnosis of cerebellar ataxia, even in the absence of multisystem involvement or a significant family history.

scholarly journals What is next after transfer of care from hospital to home for stroke patients? Evaluation of a community stroke care service based in a primary care clinic

2013 ◽  
Vol 04 (04) ◽  
pp. 408-412 ◽  
Author(s):  
Ram Lakhan
Keyword(s):  
Mental Illness ◽  
Mental Retardation ◽  
Family History ◽  
Care Service ◽  
Primary Care Clinic ◽  
Stroke Care ◽  
Inverse Association ◽  
Care Clinic ◽  
Population Type ◽  
History Of

ABSTRACT Background: Epilepsy is a disorder that is commonly found in people with intellectual disability (ID). The prevalence of epilepsy increases with the severity of ID. The objective of this study was to determine if there is an association between intelligence quotient (IQ) and epilepsy in children with ID. Materials and Methods: A total of 262 children, aged 3-18 years, with ID were identified as part of a community‑based rehabilitation project. These children were examined for epilepsy and diagnosed by a psychiatrist and physicians based on results of electroencephalogram tests. A Spearman’s correlation (ρ) was used to determine if there was an association between IQ scores and the occurrence of epilepsy. X2 statistics used to examine the relationship of epilepsy with gender, socioeconomic status, population type, severity of ID, family history of mental illness, mental retardation, epilepsy, and coexisting disorder. Results: Spearman’s rho –0.605 demonstrates inverse association of IQ with epilepsy. X2 demonstrates statistically significant association (P < 0.05) with gender, severity of ID, cerebral palsy, behavior problems, and family history of mental illness, mental retardation, and epilepsy. Conclusions: Lower IQ score in children with ID has association with occurrence of epilepsy. Epilepsy is also found highly associated with male gender and lower age.

O-117 Prevalence of Fragile X Mental Retardation 1 premutation (FMR1) in young infertile women with diminished ovarian reserve. Implications in clinical practice

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
A Borras Capo ◽  
I Agustí ◽  
S Peralta ◽  
Y Barral ◽  
A Goday ◽  
...  
Keyword(s):  
Family History ◽  
Ovarian Reserve ◽  
Fragile X ◽  
Young Patients ◽  
Diminished Ovarian Reserve ◽  
Fmr1 Gene ◽  
Control Group ◽  
Fmr1 Premutation ◽  
History Of ◽  
Ovarian Reserve Markers

Abstract Study question Are young infertile patients with diminished ovarian reserve (DOR) elegible to perform the FMR1 premutation study? Summary answer Study of the FMR1 premutation should be considered in infertile young patients with DOR in order to give them an adequate genetic counselling. What is known already FMR1 gene may have some reproductive implications. Most notable is that FMR1 premutation expansions are associated with premature ovarian insufficiency (POI), diagnosed by amenorrhea or oligomenorrhea and FSH hormonal levels &gt;25U/L before 40 years old. Presence of FMR1 premutation implies a risk of develop POI up to 24% and having an offspring with fragile X syndrome. The frequency of FMR1 premutation in general population is estimated in 0.3-0.7%. The role of FMR1 premutation expansions in diminished ovarian reserve (DOR) patients is not clearly established and could be considered as a previous step to POI that may be related to sterility. Study design, size, duration Retrospective review of the FMR1 gene study requested in patients of an Assisted Reproduction Unit of a tertiary Hospital in Barcelone from January-2016 to December-2019. A total of 307 cases were evaluated to determine the number of CGG repeat and AGG interruptions to assess the FMR1 gene status. Participants/materials, setting, methods A total of 307 samples were assessed. Clinical and reproductive data were collected. The FMR1 status was requested on patients who present: a) POI (n = 60); b) Family history of the FMR1 mutation (n = 11); c) Infertile normo-ovulatory and young (≤35 years old) women with DOR defined as antral follicle count (AFC) &lt; 7 and antimüllerian hormone &lt;0.8ng/ml (n = 71); d) Miscellaneous (n = 29) FMR1 was studied in 136 oocyte donors (screened by protocol), this was considered control group. Main results and the role of chance Mean age (±SD) of infertile DOR group was 32.7 +/- 2.1 years old (range 26-35) and showed altered ovarian reserve markers: AMH 0.43 ng/ml (SD ± 0.28) and AFC 4.27 (SD ± 2.1) follicles. In this group, 4 FMR1 premutation cases were found. Mean age (±SD) in control group was 26.28 +/- 5.2 years old and presented normal AMH and AFC values. One FRM1 premutation carrier was detected among 136 patients, prevalence comparable to the non-sterile population. The prevalence of FRM1 premutation was significantly higher in the DOR infertile group 5,6% vs 0,73% in the donors’ group (p = 0.02). Significant differences were observed also in terms of age and ovarian reserve markers between both groups. Very few cases of POI patients or family history of Fragile X Syndrome have been evaluated, due to the fact we are not a reference of these kind of patients. Among patients with a family history, 1 case from 11 (9.1%) was detected. In the POI group, three cases of premutation out of 60 (5%) were found. Limitations, reasons for caution This is a retrospective study with limited determinations of FMR1 studies. Donor screening and young infertile patients with significant low ovarian reserve are the main indications to request FMR1 status gene, so may lead to a selection bias. Wider implications of the findings These results should be confirmed prospectively in a higher population of infertile young patients with DOR, in order to identify the profile of infertile patient with diminished ovarian reserve who are elegible to perfom FMR1 gene premutation to give them an adequate clinical and genetic counselling. Trial registration number not apllicable

Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series

2021 ◽  
pp. jmedgenet-2020-107609
Author(s):  
Nattaporn Tassanakijpanich ◽  
Forrest McKenzie ◽  
Yingratana A McLennan ◽  
Elisabeth Makhoul ◽  
Flora Tassone ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Connective Tissue ◽  
Messenger Rna ◽  
Fragile X ◽  
Case Series ◽  
Ehlers Danlos Syndrome ◽  
Cgg Repeat ◽  
Fragile X Mental Retardation ◽  
Fragile X Premutation ◽  
Danlos Syndrome

BackgroundWhile an association between full mutation CGG-repeat expansions of the Fragile X Mental Retardation 1 (FMR1) gene and connective tissue problems are clearly described, problems in fragile X premutation carriers (fXPCs) CGG-repeat range (55–200 repeats) of the FMR1 gene may be overlooked.ObjectiveTo report five FMR1 fXPCs cases with the hypermobile Ehlers-Danlos syndrome (hEDS) phenotype.MethodsWe collected medical histories and FMR1 molecular measures from five cases who presented with joint hypermobility and loose connective tissue and met inclusion criteria for hEDS.ResultsFive cases were female and ranged between 16 and 49 years. The range of CGG-repeat allele sizes ranged from 66 to 150 repeats. All had symptoms of hEDS since early childhood. Commonalities in molecular pathogenesis and coexisting conditions between the fXPCs and hEDS are also presented. The premutation can lead to a reduction of fragile X mental retardation protein, which is crucial in maintaining functions of the extracellular matrix-related proteins, particularly matrix metallopeptidase 9 and elastin. Moreover, elevated FMR1 messenger RNA causes sequestration of proteins, which results in RNA toxicity.ConclusionBoth hEDS phenotype and premutation involvement may co-occur because of related commonalities in pathogenesis.

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