Frequency of fragile-x in x-linked mental retardation

Fragile X syndrome [FXS] is the most common form of inherited mental retardation and accounts for about one third of all cases of X linked mental retardation [XLMR]. It is inherited as an X-linked dominant trait with a fragile site at Xq27.3 locus named fragile X mental retardation gene [FMR-1]. The FMR-1 protein is widely expressed, with the highest expression in brain, testes, ovaries, esophagus, thymus, eye and spleen. This study was conducted on twenty mentally retarded boys aged 8.5 +/- 3.84 years, attending the genetic clinics at Menoufiya University hospitals. They represented 11 families. All patients were subjected to detailed history, family pedigree, anthropometric measurements, thorough clinical examination with clinical scoring for the 13 items fragile X checklist, IQ assessment, routine investigations and cytogenetic studies which included conventional karyotyping using G banding and cytogenetic analysis for fragile X detection. Positive consanguineous marriage was found in 15% of our studied cases. Nine families out of total eleven families had positive family history most of them were second degree relative males through maternal cousins. Craniofacial abnormalities included high arched palate in 65% of patients, large ears in 55%, prominent forehead in 45% and elongated face and abnormal teeth in 30% for each. Speech problems were present in 75% and hyperactivity in 55% of patients. Sixty five percent had mild mental retardation [IQ= 50-70%].By applying the clinical scoring fragile X checklist, it was found that 3 patients [15%] had score more or equal to 19 and 3 [15%] had score from 16 to less than 19, while 14 [70%] had score less than 16. As regards cytogenetic studies, 80% of our patients had normal karyotyping [46 XY] while four cases [20%] had positive fragile site on X-chromosome of whom two cases from the same family had 46, Y, Frg [X] [q27.3], while the other two cases, also from a single family, had inversion of Y chromosome beside positive fragile X chromosome site 46, Fra[X] [q27.3], inv [Y]. So, in a child with isolated mental retardation or autism of unknown etiology with considerable fragile X dysmorphic features or established family history of fragile X syndrome, chromosomal study that identifies the fragile site at Xq27.3 in addition to other cytogenetic abnormalities could be useful or early diagnosis and intervention by a special services team

Anti-Helicobacter antibodies and fasting gastrin concentrations in children with recurrent abdominal pain

Fifty children divided into 2 groups were studied. Group I included 30 children with non organic recurrent abdominal pain [RAP] as defined by Apley and Naish, aged 3.5-11.8 years. Group II [control group] consisted of 20 apparently healthy children with no gastrointestinal symptoms nor signs, aged 4 -10.5 years. All children were subjected to detailed history taking and thorough physical examination, urine and stool analysis, complete blood count and abdominal ultrasonography. Anti-Helicobacter IgG antibodies were investigated by immunoassay and fasting gastrin concentrations were measured using the Double Antibody Gastrin procedure for all children. In the present study, children with and without RAP were well matched for age and sex. The mean fasting gastrin concentration was not significantly related to RAP. Thirty percent [30%] of studied children with RAP were seropositive for H-pylori compared to 15% only of control children. In children seropositive for H. Pylori, there were no significant relations between sex, age and fasting gastrin concentration to occurrence of RAP. Similarly, the relation of sex, age and fasting gastrin concentration to occurrence of RAP was not significant among children seronegative for H. pylori. Evaluation of the differences between seropositive and seronegative children in our study showed that H. pylori infection increased fasting gastrin concentration by more than 100%. It could be concluded that H. pylori is a common infection in our children. It results in a marked rise of fasting gastrin with its possible clinicopathologic consequences. However, H. pylori infection and hypergastrinemia showed no significant causal relationship to RAP at the currently available clinical characteristics