Serial neuropsychological assessment and evidence of shunt malfunction in spina bifida: a longitudinal case study.

Myelomeningocele is often accompanied by hydrocephalus (MMH), making it a potentially unstable neurological condition requiring shunt placement and possible revisions. Serial neuropsychological assessment is an important tool in monitoring children with MMH, as cognitive changes can indicate shunt malfunction and hydrocephalus. We present the case of a girl with MMH who had five neuropsychological assessments (ages 5, 7, 11, 12, and 14). Despite a lack of overt neurological symptoms or report of behavioral decline, testing at age 11 revealed decline in multiple neurobehavioral domains, and imaging at that time showed increased hydrocephalus, requiring shunt revision. Subsequent neuropsychological assessment conducted after a 2-year period of medical stability showed improvement and/or a return to baseline levels in some skill areas (i.e., working memory, verbal memory, visuomotor integration, and sustained attention), yet more lasting impairments in others (i.e., Verbal IQ, processing speed, organization, and response inhibition). These lasting cognitive deficits potentially impact independent completion of complex medical self-care tasks. This pattern of recovery highlights vulnerability of brain systems supporting executive functions in children with hydrocephalus and shunt failure.

Uroneurological assessment of spina bifida cystica and occulta.

AIMS: Spina bifida is a rare but well-documented congenital spinal anomaly comprising a cystic form, which appears in infancy, and an occult form, which appears in late childhood and in adulthood. Herein, we report the results of uroneurological assessment in patients with spina bifida cystica and occulta, with respect to diagnosis and management of the disorders. METHODS: We performed a neurological examination, urinary questionnaire, and urodynamic studies in 28 consecutive patients with urinary symptoms, including 16 with the cystic form (nine male and seven female patients, ages 2 to 25 years), all of whom underwent neonatal surgical management, and 12 with occult form (six men and six women, ages 7 to 32 years) diagnosed by myelography and spinal magnetic resonance imaging who did not undergo surgery. RESULTS: Neurological examination revealed a combination of flaccid and spastic paresis, with dominant lower motoneuron signs in the cystic form, whereas there were dominant upper motoneuron signs in the occult form. Four patients with occult spina bifida presented with urinary symptoms as the sole initial complaint. There was no correlation between neurological findings and urodynamic abnormalities. Urinary incontinence and enuresis were common at all ages, and large post-micturition residuals and vesicoureteral reflux were not uncommon, particularly in the cystic form. Bladder abnormalities in the cystic and occult forms included detrusor hyperreflexia during filling in 38% and 42%, low compliance detrusor in 81% and 67%, supersensitivity to bethanechol in two (100%) patients with the cystic form and in three of four (75%) with the occult form, and impaired bladder sensation in 25% and 8% in each form, respectively. Urethral abnormalities in cystic and occult forms included detrusor/sphincter dyssynergia in 50% and 27%, low Pure max in 56% and 17%, silent sphincter electromyographic activity in 25% and 0%, absent bulbocavernosus reflex in 87% and 56%, absent anal reflex in 100% and 57%, neurogenic motor unit potentials in one patient with cystic form studied and in two of three patients with occult form, respectively. CONCLUSIONS: Spina bifida cystica and occulta present with a wide spectrum of urodynamic abnormalities including upper and lower motoneuron types of bladder and urethral dysfunction. Careful uroneurological assessment and spinal magnetic resonance imaging are important for diagnosing young adult patients with spina bifida occulta because they may present with urinary symptoms as the sole initial complaint and have no other obvious neurological abnormalities.

Magnetic resonance imaging in the pre-operative assessment of closed spinal dysraphism in children.

Magnetic resonance imaging (MRI) was used in the pre-operative assessment of closed spinal dysraphism in 61 paediatric patients. There were 25 cases of tethered cord, 6 of retethering at the site of myelomeningocele repair, 15 cases of diastematomyelia, 12 cases of lipomyelomeningocele, and 1 case each of dermal sinus, dermoid cyst and neurenteric cyst. MRI was found to have accurate correlation with surgical findings in all cases of tethered cord, and diastematomyelia. In cases of re-tethering at the site of previous myelomeningocele repair, while it was a significant advance on previous imaging techniques precise delineation of neural tissue and discrimination from post-operative fibrosis was frequently not possible. Imaging of dorsal lipomyelomeningoceles also correlated with surgical findings and provided accurate pre-operative information. However, the accuracy and pre-operative detail in cases of transitional and terminal lipomyelomeningoceles was disappointing.

Comparison of intracranial pressure between spina bifida patients and normal subjects using a non-invasive pressure assessment technique.

A comparison of mean intracranial pressure (ICP) between 36 spina bifida patients and 24 patients with clinically normal ICP was undertaken. A new non-invasive method of assessing ICP was used throughout this study. The technique relates tympanic membrane displacement to ICP and has been shown to be a reliable measure of mean ICP by comparison with direct measures via ventricular catheters and reservoirs, subdural catheters and lumbar punctures. Using this non-invasive method the results of this study indicated that the patients with spina bifida and without a ventricular shunt have a higher than average mean ICP. The results demonstrated a significant difference (99.9%) in the measures of ICP between the spina bifida and normal populations. A significant difference (99.9%) in the ICP was also found between patients with spina bifida and with and without ventricular shunts, and thus presumably those with and without diagnosed hydrocephalus. It is suggested that patients with spina bifida and without ventricular shunts probably have higher than average mean ICP when compared with the normal population.

The case of Baby Jane Doe. 2. Baby Jane Doe in the courts.

KIE: A parental decision to forego corrective surgery for a baby born with spina bifida in October 1983 resulted in a legal controversy and a public debate about the care of all babies born with serious disabilities. Steinbock traces the medical and legal history of the "Baby Jane Doe" case, contrasts the approachs of the New York courts involved, and looks at two other decisions involving the treatment of minors with which the case has been compared. She considers the difficulties in establishing a prognosis for handicapped newborns, and concludes with a discussion of government intervention in decisions about their care.^ieng

Neural tube defects in New South Wales: management and preventive policies, 1965-1980.

This paper reviews the results of the programme of antenatal testing and selective termination of fetuses with anencephaly and spina bifida in New South Wales over the last eight years. It discusses the problems associated with pregnancy screening, with reference to those involved in selection for treatment of newborn infants with spina bifida. The incidence of neural tube defects has been declining, and this, although possibly the result of early termination of affected fetuses, may have its basis in a worldwide trend. Preventive action based on a more precise understanding of aetiological factors will further decrease the incidence, thereby reducing the load of long-term handicapped survivors.