Lower extremity neuromotor function and short-term ambulatory potential following in utero myelomeningocele surgery.

OBJECTIVE: To evaluate lower extremity neuromotor function (LENF) and short-term ambulatory potential following fetal myelomeningocele (fMMC) closure. METHODS: Retrospective chart review of 54 children that underwent fMMC closure at our institution prior to the NIHCD-MOMS trial. Neonatal LENF was compared to predicted function based on spinal lesion level assigned by prenatal ultrasound. Ambulatory status was classified as independent walkers (walks without assistive appliances), assisted walker (requires walking aid), and non-ambulatory (wheelchair bound). RESULTS: Thoracic, lumbar, and sacral level lesions were present in 4, 44 and 6 fMMC infants, respectively. 31/54 of fMMC children (57.4%; median: 2 levels, range: 1-5) had better than predicted, 13/54 (24.1%) same as predicted and 10/54 (18.5%; median: 1 level, range: 1-2) worse than predicted LENF at birth. At a median follow-up age of 66 months (36-113), 37/54 (69%) walk independently, 13/54 (24%) are assisted walkers, and 4/54 (7%) are wheelchair dependent. The strongest factors predicting a lower likelihood to walk independently were higher-level lesion (>L4, p = 0.001) and the development of clubfoot deformity after fetal intervention (p = 0.026). Despite the observed improved ambulatory status, structured evaluation of coordinative skills revealed that the majority of independent ambulators and all children that require assistive devices to walk experience significant deficits in lower extremity coordination. CONCLUSIONS: We observed that fMMC surgery in this highly selective population results in better than predicted LENF at birth and short-term ambulatory status. However, fMMC toddlers continue to demonstrate deficits in movement coordination that are characteristic for children with spina bifida.

Intradural inclusion cysts following in utero closure of myelomeningocele: clinical implications and follow-up findings.

OBJECT: The goal in this study was to evaluate the incidence and clinical implications of the development of cutaneously derived intradural inclusion cysts (ICs) following fetal myelomeningocele (fMMC) closure. METHODS: Retrospective databases and responses to a parental questionnaire were reviewed to determine the incidence, clinical presentation, and outcomes of fMMCs in children in whom ICs developed at follow-up. RESULTS: Prior to the National Institutes of Health (NIH)-sponsored Management of Myelomeningocele Study (MOMS), 54 patients underwent fMMC closure at the authors' institution. Sixteen (30%) presented with symptomatic tethered cord syndrome (TCS) at a median age of 27 months (range 4-93 months). Ten (63%) of the 16 (19% of the total) developed TCS in association with an intradural IC. In 9 (90%) of 10 patients, the IC was seen on preoperative MR imaging, and in 1 it was found during surgery. Four additional children (7% of the total) with evidence of an IC on surveillance MR imaging are currently asymptomatic at 94, 84, 60, and 60 months of age, respectively. All but 1 (an L-3 level lesion) IC developed in infants with L-4 and L-5 defects. After cyst removal, 6 children are asymptomatic at a median follow-up of 36 months (range 12-63 months). Following IC removal, 4 children lost normal bladder function and now require clean intermittent catheterization, and 1 lost normal leg function and now requires a walking aid for ambulation. Histologically, 8 lesions were dermoid, 1 was an epidermoid, and 1 was a mixed dermoid-epidermoid IC. Three patients developed another IC and required its removal at 24, 39, and 51 months, respectively. One required another tethered cord release within 57 months after IC removal. CONCLUSIONS: Cutaneously derived intradural ICs can develop following fMMC surgery. Deterioration of bladder function, risk of recurrence, and loss of lower-extremity function appear to be the most important long-term complications of IC in children with fMMCs. The ongoing NIH-sponsored MOMS may help determine whether children with fMMC are at increased risk of IC development compared with children treated with postnatal MMC closure. Parents seeking fMMC closure should be informed about the possibility of IC formation and the potential clinical consequences.

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.

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.