Comparison of the ileal conduit and clean intermittent catheterization for myelomeningocele.

Clean intermittent catheterization has been shown to be a safe and effective means of regular vesical emptying in children with neurogenic bladders secondary to myelomeningocele. The major benefits appear to be the protection of the upper urinary tract, and in many children, improved urinary control. In contrast, the ileal conduit has been shown to produce significant long-term complications; the major one is deterioration of the upper urinary tract. Most children with myelomeningocele begin life with normal kidneys. Our goal of therapy, therefore, is a continent independent child with normal renal function. With proper patient selection, clean intermittent catheterization offers an excellent means of achieving this result in many children; the ileal conduit for permanent urinary diversion in children is outmoded.

Germline mosaicism at the fragile X locus.

We have identified a fragile X syndrome pedigree where the disorder is associated with a molecular deletion. The deletion was present in the DNA of 2 sons but was absent in the mother's somatic cell (lymphocyte) DNA. The results are consistent with the deletion arising as a postzygotic event in the mother, who therefore is germinally mosaic. This finding has important implications for counseling fragile X families with deletion mutations.

Clean intermittent catheterization for home management in children with myelomeningocele.

Sixty-two children with myelomeningocele and neurogenic bladders have been managed with clean intermittent catheterization (CIC) at home for periods of 6 to 42 months. Abnormal upper urinary tracts improved or stabilized in 83 per cent of the children. There was no renal deterioration in children who began with normal upper tracts while on CIC. Bacteruria was common, but clinically not a problem, unless ureterovesical reflux was present. Urinary control was improved in 66 per cent of the children. CIC is an effective and safe method to regularly empty the urinary bladder and is an alternative to supravesical urinary diversion in many children with neurogenic bladders.

Verbal learning and memory in children with myelomeningocele.

Examined verbal learning and memory in children with myelomeningocele using the California Verbal Learning Test (CVLT). Participants included 41 children with myelomeningocele, 8 to 15 years of age, 33 of whom had a history of shunted hydrocephalus, and 41 matched, unaffected controls. Children with myelomeningocele and shunted hydrocephalus performed worse than controls on the CVLT. They recalled as many words as controls on the first learning trial, but acquired words more slowly across trials, so that their overall recall was lower. Their learning was characterized by a pronounced recency effect. Their delayed recall of the original list was worse than controls, but not their recognition. Performance of children with myelomeningocele but without shunts was generally not significantly different from that of the other two groups, although they did demonstrate better long-delay free recall than children with shunts. Myelomeningocele is associated with significant retrieval problems when accompanied by shunted hydrocephalus.

Seizures in relation to shunt dysfunction in children with meningomyelocele.

To determine whether seizures are a reliable sign of increased intraventricular pressure in children with shunt-dependent hydrocephalus and meningomyelocele, we performed a retrospective chart review of 346 patients with meningomyelocele and shunt-dependent hydrocephalus. Fifty-one patients had seizures. Seizure episodes were investigated to determine whether they were temporally associated with shunt dysfunction. Episodes of actual or presumed shunt dysfunction were analyzed as to presenting symptoms, ventriculogram, computed tomography scan, and shunt film results. These 51 patients had 129 admissions for possible shunt dysfunction. One hundred one admissions were due to increased intraventricular pressure; nine (9%) of these, had a seizure as one of the presenting symptoms. All of the nine episodes had other common presenting symptoms of shunt dysfunction, such as headache, vomiting, lethargy, or respiratory compromise. We conclude that seizures alone are an inadequate predictor of shunt dysfunction in children with meningomyelocele, but can be seen as one of the presenting symptoms.