Spinal dysraphism is an umbrella term that encompasses a number of congenital malformations that affect the central nervous system. The etiology of these conditions can be traced back to a specific defect in embryological development, with the more disabling malformations occurring at an earlier gestational age. A thorough understanding of the relevant neuroembryology is imperative for clinicians to select the correct treatment and prevent complications associated with spinal dysraphism. This paper will review the neuroembryology associated with the various forms of spinal dysraphism and provide a clinical-pathological correlation for these congenital malformations.

Open neural tube defects or myelomeningoceles are a common congenital condition caused by failure of closure of the neural tube early in gestation, leading to a number of neurologic sequelae including paralysis, hindbrain herniation, hydrocephalus and neurogenic bowel and bladder dysfunction. Traditionally, the condition was treated by closure of the defect postnatally but a recently completed randomized controlled trial of prenatal versus postnatal closure demonstrated improved neurologic outcomes in the prenatal closure group. Fetal surgery, or more precisely maternal-fetal surgery, raises a number of ethical issues that we address including who the patient is, informed consent, surgical innovation and equipoise as well maternal assumption of risk. As the procedure becomes more widely adopted into practice, we suggest close monitoring of new fetal surgery centers, in order to ensure that the positive results of the trial are maintained without increased risk to both the mother and fetus.

Executive dysfunction causes significant real-life disability for patients with spina bifida (SB). However, no previous research has been directed toward the amelioration of executive functioning deficits amongst persons with SB. Goal Management Training (GMT) is a compensatory cognitive rehabilitation approach, addressing underlying deficits in sustained attention to improve executive function. GMT has received empirical support in studies of other patient groups. The purpose of the present study was to determine the efficacy of GMT in treating subjects with SB, using inpatient intervention periods. We hypothesized post-intervention changes in scores on neuropsychological measures to reflect improved attentional control, including sustained attention and inhibitory control. Thirty-eight adult subjects with SB were included in this randomized controlled trial. Inclusion was based upon the presence of executive functioning complaints. Experimental subjects (n = 24) received 21 hr of GMT, with efficacy of GMT being compared to results of subjects in a wait-list condition (n = 14). All subjects were assessed at baseline, post-intervention, and at 6-month follow-up. Findings indicated superior effects of GMT on domain-specific neuropsychological measures and on a functional “real-life” measure, all lasting at least 6 months post-treatment. These results show that deficits in executive functioning can be ameliorated in patients with congenital brain dysfunction. (JINS, 2013, 19, 1–14)

We compared neuropsychological profiles in children with shunted hydrocephalus secondary to aqueductal stenosis (AS), a rare form of congenital hydrocephalus, and spina bifida myelomeningocele (SBM), a common form of congenital hydrocephalus. Participants were 180 children with shunted hydrocephalus grouped according to etiology: SBM (n = 151), AS (n = 29), and typically developing (TD; n = 60) individuals. The group with AS performed below the TD group on all tasks except for reading, and their overall performance was higher than the group with SBM, who had the lowest performance in the sample. Both clinical groups significantly differed from the TD group on tasks of spatial function, concept formation, motor function, and memory. Performance of the subgroup of AS children with normal cerebellum status approximated that of the TD group, while those with cerebellar anomalies performed lower than others with AS. Cerebellar abnormalities (present in the whole SBM group and in a subset of the AD group) are associated with more compromise of cognitive as well as motor function. (JINS, 2012, 18, 1–10)

Adolescents with spina bifida (SB) vary in their ability to adapt to the disease, and it is likely that numerous risk and protective factors affect adaptation outcomes. The primary aim was to test neuropsychological impairment, exemplified herein by executive dysfunction, as a risk factor in the Ecological Model of Adaptation for Adolescents with SB. Specific hypotheses were that: (1) executive functioning predicts the adaptation outcome of functional independence in adolescents with SB; (2) executive functioning mediates the impact of neurological severity on functional independence; and (3) family and adolescent protective factors are related to functional independence and moderate the relationship between executive functioning and functional independence. Forty-three adolescents aged 12–21 years completed neuropsychological measures and an interview that assessed risk, adolescent and family protective factors, and functional independence. Age, level of lesion, executive functioning, and the protective factor adolescent activities were significantly correlated with the functional independence outcome. In hierarchical regression analysis, the model accounted for 61% of the variance in functional independence outcomes. Executive functioning mediated the impact of neurological severity on functional independence. (JINS, 2008, 14, 793–804.)

Introduction: Spina bifida is a rare congenital disorder due to a closure anomaly of the neural tube.

Clinical case: A 9 years-old girl presents with lumbar spina bifida aperta and cervical spina bifida occulta. Her case illustrates the importance of orthodontic xrays in the diagnosis of cervical spine malformations.

Discussion: There are two categories of spina bifida. When refered to as aperta, the disorder associates a dorsal vertebral bony gap and an involvement of the spinal cord. A skin pouch can form and include meninges alone (meningocele) or meninges with spinal cord (myelomeningocele). Spina bifida is generally located in the lumbar or sacral regions, and extends over 2-3 vertebrae. On the other hand, the involvement of the cervical spine is often of the occulta type, where the defect is covered by skin and is limited to the bone. This rare condition cannot be ignored by the clinician as the craniocervical junction anomalies induced by this malformation can be associated with C1-C2 instability, as in our case report.

As currently defined, it is not clear whether Nonverbal Learning Disabilities (NLD) should be considered a matter of kind or magnitude (Meehl, 1995). The taxonicity of NLD, or the degree to which it is best construed as discrete versus continuous, has not been investigated using methods devised for this purpose. Latent Class Analysis (LCA) is a method for finding subtypes of latent classes from multivariate categorical data. This study represents an application of LCA on a sample of children and adolescents with spina bifida myelomeningocele (SBM) (N = 44), those presenting with features of NLD (N = 28) but no medical condition, and control volunteers (N = 44). The two-class solution provided evidence for the presence of a taxon with an estimated base-rate in the SBM group of .57. Indicator validities (the conditional probabilities of indicator endorsement in each latent class) suggest a somewhat different priority for defining NLD than is typically used by researchers investigating this disorder. A high degree of correspondence between LCA classifications and those based on a more conventional algorithm provided evidence for the validity of this approach. (JINS, 2007, 13, 50–58.)

Myelomeningocele is a common developmental malformation of the central nervous system that usually results in motor deficits. Previous studies of myelomeningocele have not examined motor adaptation, which involves changes in the control of movements that occur as a result of repeated task exposure but do not depend on conscious recall of the exposure. We studied motor adaptation in 17 children with myelomeningocele and shunted hydrocephalus, 19 children with attention deficit/hyperactivity disorder (ADHD), and 20 healthy siblings. All children were 8 to 15 years of age. They were administered 2 measures of motor adaptation known to be sensitive to subcortical abnormalities in adult neurological disorders. One task assessed the biasing in weight judgments that occurs after exposure to heavy versus light weights, and the other assessed the adaptation in reaching movements that occurs when vision is laterally displaced by prisms. Contrary to expectations, the groups did not differ in motor adaptation. Children in all 3 groups displayed significant biasing in their weight judgments and improvement in the accuracy of pointing during prism adaptation trials. Performance on the 2 motor adaptation tasks was not related to age or IQ. Weight biasing was positively related to a measure of response disinhibition. The findings suggest that myelomeningocele does not result in global impairment of motor skills, but instead in a profile of intact and impaired motor functions that potentially may be decomposed in accordance with the neuroscience of motor skills. (JINS, 2003, 9, 642–652.)

As a group, children with myelomeningocele (MM) and early-onset hydrocephalus demonstrate many of the features of the syndrome of nonverbal learning disabilities (NLD). However, the frequency with which individual children display a pattern of neuropsychological functioning consistent with the NLD syndrome is unknown. We addressed this question by comparing the prevalence of NLD in 32 children with MM and shunted hydrocephalus to that in a group of 27 healthy siblings. Participants, who were between 8 and 15 years of age, completed a neuropsychological test battery that included 11 measures of possible assets and 17 measures of possible deficits that define the NLD syndrome. As a group, children with MM and shunted hydrocephalus displayed many of the specific assets and deficits. However, they also displayed significantly more variability in their patterns of assets and deficits than siblings, reflecting the substantial individual differences that characterize children with MM. About 50% of the children with myelomeningocele displayed a pattern of assets and deficits consistent with the NLD syndrome. Classification as NLD was weakly related to cumulative medical risk, as well as to left-handedness. The findings suggest a need for caution in making generalizations regarding the applicability of the NLD model to children with MM and early-onset hydrocephalus. (JINS, 2003, 9, 653–662.)