Fragile X mutation and FG syndrome‐like phenotype

Piussan, C; Mathieu, MichÃ ̈le; Berquin, Patrick

doi:10.1002/(sici)1096-8628(19960809)64:2<395::aid-ajmg32>3.3.co;2-x

Cited by 3 publications

(5 citation statements)

References 4 publications

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“…In the present study a significant relationship was demonstrated between constipation, and non‐ambulancy, cerebral palsy, the use of anticonvulsant therapy or benzodiazepines (possible as a result of relaxation of the abdominal muscles), the use of H 2 ‐receptor antagonists or PPIs, and an IQ < 35. Previous studies have reported findings which are comparable with the present results; for example, a high prevalence of constipation in people with ID has been reoprted to be caused by multi‐factorial contributing factors, such as low IQ, cerebral palsy and non‐ambulancy, which are usually jointly present (Thompson et al 1985; Piazza et al 1991; Zwamborn‐Hanssen et al 1995; Piussan et al 1996); and cerebral palsy has also been described as an independent factor for developing constipation (Maemura & Miyagawa 1977; Nishiyama et al 1978; Weber et al 1985; Agnarsson et al 1989; Nicholson & Hockey 1993). This is possibly a result of a disorder in the supraspinal control of colonic and anorectal motility, located in the pons cerebri (Weber et al 1985), which also leads to faecal incontinence in 60% of cases (Cameron et al 1996; O’Brien et al 1996).…”

Section: Discussionsupporting

confidence: 90%

“…A number of potential causes have been described in the medical literature (Clayden 1991). These causes have been associated with a neurological origin or ID (Piussan et al 1996), but have also been attributed to the effects of poor fluid intake, vomiting, dietary habits such as low fiber intake (Fischer et al 1985) or decreased mobility (Glickmann & Kamm 1996; Maemura & Miyagawa 1977; Nishiyama et al 1978; Agnarsson et al 1989; Weber et al 1985; Nicholson & Hockey 1993). Two different types of constipation have been described in intellectually normal children: (1) constipation with the retention of hard faeces and difficult defecation of small pellets of stool; and (2) severe faecal incontinence with frequent soiling accidents.…”

Section: Introductionmentioning

confidence: 99%

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The prevalence of constipation in institutionalized people with intellectual disability

Böhmer

Taminiau

Klinkenberg‐Knol

et al. 2001

J intellect Disabil Res

106

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Constipation is a common problem in people with intellectual disability (ID). Laxatives are frequently prescribed with disappointing results. The prevalence of constipation was investigated in a random population of 215 people with ID (IQ < 50) and constipation was correlated with clinical symptoms. All subjects were scored for bowel habits. Constipation was defined as having a bowel movement less than three times a week or the necessity of using laxatives more than three times a week. Further possible accompanying factors were evaluated. The control subjects were defined as individuals who did not use laxatives. Subjects with constipation were defined as patients and were compared to subjects without constipation (controls). One hundred and forty-nine out of 215 cases (69.3%) showed constipation. Constipation was significantly correlated with non-ambulancy, cerebral palsy, the use of anticonvulsive medication or benzodiazepines, H2-receptor antagonists or proton pump inhibitors, food refusal, and an IQ < 35. Fifty-eight per cent of the patients used bisacodyl or magnesium oxide, 39% lactulose, 13% sodiumlaurylsulphoacetate/sodium citrate/sorbitol and only 10% were given sodium phosphate enemas. Faecal soiling was found in 15% of subjects, while manual evacuation of faeces was performed in nearly 7% of cases. Constipation was randomly demonstrated in almost 70% of the population with ID. Subjects with the above-mentioned accompanying factors are especially at risk for constipation. Contrary to the general population, constipation in people with ID is associated with little use of phosphate enemas, microlax, a low incidence of faecal soiling and manual evacuation of faeces, suggesting an aetiology without distal faecal impaction. The regimen and effect of therapy has to be studied to define adequate treatment schedules.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

The prevalence of constipation in institutionalized people with intellectual disability

Böhmer

Taminiau

Klinkenberg‐Knol

et al. 2001

J intellect Disabil Res

106

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“…Features of FG syndrome have also been reported in association with other syndromes such as the fragile X syndrome and in a patient with a microdeletion 19q13.2 [5,6].…”

mentioning

confidence: 72%

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome

et al. 2000

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Over recent years, submicroscopic subtelomeric rearrangements have been shown to be a significant cause of mental retardation and, therefore, such abnormalities should be considered in every child with moderate to severe retardation with additional features suggestive of a chromosomal abnormality. The FG syndrome is an X-linked recessive mental retardation syndrome with congenital hypotonia, relative macrocephaly, a characteristic facies and constipation. We describe a severely mentally retarded boy with a history of severe constipation, truncal hypotonia, facial dysmorphism, fetal pads, and joint laxity, leading to an initial diagnosis of FG syndrome at the age of 3 years. Clinical re-evaluation at the age of 6 years, when he showed signs of general overgrowth, initiated a telomere screen, and a submicroscopic 22q13.3 telomere deletion was detected. The features suggestive of FG syndrome in this boy with a 22q13.3--> qter deletion may indicate testing for submicroscopic 22qter deletions in patients with atypical features of FG syndrome without a definite X-linked family history.

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“…In the same linkage analysis, genetic heterogeneity was shown. A FG syndrome‐like phenotype has been reported in patients with Martin–Bell syndrome [fra(X)] and it has been proposed that the gene responsible for the FG syndrome should be localized close to the FMR1 locus [18,19].…”

Section: Discussionmentioning

confidence: 99%

“…Hematological changes have not been described in these patients. An FG syndrome‐like phenotype has been repeatedly described in patients with fragile X syndrome [18,19]. Other patients with a similar phenotype, but absence of some typical features, have been reported, and at least some of them are regarded as FG syndrome patients as well [20–23].…”

mentioning

confidence: 98%

A microdeletion syndrome due to a 3‐Mb deletion on 19q13.2 – Diamond–Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

et al. 1999

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We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation. These features show similarity to the phenotype of the X-linked FG syndrome. DBA was diagnosed at the age of 4 months, and the boy underwent treatment with transfusion and with prednisolone. He had a normal 46, XY karyotype, but fluorescence in situ hybridization (FISH) analysis to metaphase chromosomes revealed a 3-Mb deletion on 19q13.2. This chromosomal region has previously been linked to the DBA phenotype and one 19q13 microdeletion has been identified in a patient with DBA. This deletion coincides with the deletion reported here. We suggest that the complex phenotype of our patient, including both DBA and the associated features, represent a microdeletion syndrome.

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Fragile X mutation and FG syndrome‐like phenotype

Cited by 3 publications

References 4 publications

The prevalence of constipation in institutionalized people with intellectual disability

The prevalence of constipation in institutionalized people with intellectual disability

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome

A microdeletion syndrome due to a 3‐Mb deletion on 19q13.2 – Diamond–Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

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