Sexual function in adult patients with spina bifida and its impact on quality of life.

PURPOSE: We evaluated sexual function in adult patients with spina bifida and its impact on quality of life. MATERIALS AND METHODS: Between March 2005 and May 2006, 76 adult patients with spina bifida, including 34 women and 42 men, with a mean age of 24.4 years (range 18 to 37) were seen for followup at our institution. Following institutional review board approval data were collected from medical records and validated questionnaires were completed, including the Watts Sexual Function Questionnaire to assess sexual function and SF-36 to assess quality of life. RESULTS: Of the 76 patients 18 (24%), including 9 women and 9 men, achieved sexual intercourse at least once in the last 2 months. There was no difference regarding gender distribution and mean age +/- SD in sexually active vs not sexually active patients (25.8 +/- 4.2 vs 24 +/- 4.5 years, p = 0.13). All levels (thoracic to sacral) of myelomeningocele were seen in the 2 groups with significant higher lesions of neurological impairment in not sexually active than in sexually active patients. No difference was seen in relation to ambulatory status and urinary incontinence. Overall total Watts Sexual Function Questionnaire scores in sexually active patients were similar in men and women. When comparing the 4 domain scores on desire, arousal, orgasm and satisfaction, women scored similar to men. Only 2 men tried to achieve paternity but failed and 1 woman gave birth. When evaluating SF-36 for quality of life, there was no significant difference in physical health (42.4 +/- 11.9 vs 38.7 +/- 7.2, p = 0.11) and mental health (54.1 +/- 11.3 vs 58.6 +/- 10.7, p = 0.12) subscores in sexually active vs not sexually active patients. CONCLUSIONS: In our cohort 24% of adult patients with spina bifida were sexually active. Sexual activity was not related to gender, level of urinary incontinence or extent of physical disability but it was more likely in patients with more caudal levels of neurological impairment. Sexual function seems not to affect health related quality of life in these patients.

Maternal-fetal surgery for myelomeningocele: neurodevelopmental outcomes at 2 years of age.

OBJECTIVE: This study was undertaken to examine short-term neurodevelopmental outcomes in children with myelomeningocele (MMC) who underwent in utero neurosurgical closure. STUDY DESIGN: Between 1998 and 2002, 51 fetuses underwent in utero MMC closure at our Center. Thirty (63%) of these children have returned for neurodevelopmental testing at 2 years of age using the Bayley Scales of Infant Development and Preschool Language Scales. RESULTS: Overall shunt rate was 43% in this group. Neurodevelopmental testing found 67% with cognitive language and personal-social skills in the normal range, 20% with mild delays, and 13% with significant delays. Children with shunted hydrocephalus scored lower than those with unshunted ventriculomegaly. CONCLUSION: Children who have undergone fetal MMC closure have characteristic neurodevelopmental deficits that do not appear worsened by fetal surgery, and developmental outcomes may be improved by decreasing the need for ventriculoperitoneal shunting.

Craniosynostosis: another feature of the 22q11.2 deletion syndrome.

We report on the presence of craniosynostosis in four patients with the 22q11.2 deletion. In light of previous reports of the association, we propose that the occurrence is higher than the general population incidence. Therefore, we suggest that craniosynostosis should be considered a manifestation of the 22q11.2 deletion and conversely that the 22q11.2 deletion should be considered in the differential diagnosis of craniosynostosis.

Spina bifida.

Spina bifida results from failure of fusion of the caudal neural tube, and is one of the most common malformations of human structure. The causes of this disorder are heterogeneous and include chromosome abnormalities, single gene disorders, and teratogenic exposures. However, the cause is not known in most cases. Up to 70% of spina bifida cases can be prevented by maternal, periconceptional folic acid supplementation. The mechanism underlying this protective effect is unknown, but it is likely to include genes that regulate folate transport and metabolism. Individuals with spina bifida need both surgical and medical management. Although surgical closure of the malformation is generally done in the neonatal period, a randomised clinical trial to assess in utero closure of spina bifida has been initiated in the USA. Medical management is a lifelong necessity for individuals with spina bifida, and should be provided by a multidisciplinary team.

A new look at myelomeningoceles: functional level, vertebral level, shunting, and the implications for fetal intervention.

OBJECTIVE: Previous reports have suggested that 80% to 85% of patients who have a myelomeningocele (MMC) and undergo surgical repair after birth develop hydrocephalus and require the placement of a ventricular shunt. However, the rate of shunting as a function of spinal level is not well established. We sought to determine the distribution of postnatally repaired MMC lesions as characterized by both functional and radiologic assessment, as well as the incidence of shunting when patients were categorized according to these 2 methods. METHODS: A retrospective chart review of 297 patients who were born with open MMCs and followed in the spina bifida clinic at the Children's Hospital of Philadelphia was performed. The presence or absence of a shunt was determined for each patient. Functional spinal level was determined by the best-recorded neurologic examination and vertebral level by spine radiographs. RESULTS: The overall rate of ventricular shunting was 81%. The level of the lesion significantly affected the incidence of shunting, with more cephalad lesions correlating with higher rates. This was true both for functional and radiologic categorizations. A significantly higher shunt rate was found among patients with sacral lesions when categorized by radiologic rather than functional criteria. In 86% of patients, the functional level was found to be equal to or higher (worse) than the radiologic level. CONCLUSIONS: This study describes the natural history of ventricular shunting in MMC patients with relation to both radiologic and functional criteria. Fetal MMC closure is being performed in some centers in an attempt to decrease the incidence of shunting and to improve leg function in selected patients. The present data may serve as a comparison group and aid in the design and analysis of a prospective trial to assess the efficacy of this new procedure.