Motor sequence learning in children with spina bifida.

Cognitive and motor problems are common in children with spina bifida (SB), particularly in those children with cerebral malformations (SBM). Little is known about how these conditions affect motor learning. This study examines motor sequence learning in children with SB, SBM, and healthy controls.

Interobserver reliability and diagnostic performance of Chiari II malformation measures in MR imaging--part 2.

Purpose: Brain MR imaging is essential in the assessment of Chiari II malformation in clinical and research settings concerning spina bifida. However, the interpretation of MR images of the malformation is not always straightforward. Morphometric analyses of the extent of Chiari II malformation may improve the assessment.

Essential features of Chiari II malformation in MR imaging: an interobserver reliability study--part 1.

Purpose: Brain MR imaging is essential in the assessment of Chiari II malformation in clinical and research settings concerning spina bifida. However, the interpretation of morphological features of the malformation on MR images may not always be straightforward. In an attempt to select those features that unambiguously characterize the Chiari II malformation, we investigated the interobserver reliability of all its well-known MR features.

Influence of birth mode on early neurological outcome in infants with myelomeningocele.

Objective: The aim of the study was to determine whether route of birth affects early neurological outcome in infants with myelomeningocele.

Study Design: In a retrospective cohort study, 95 neonates with myelomeningocele evaluated at the Radboud University Nijmegen Medical Centre between 1990 and 2006 were reviewed. The effect of delivery mode on early neurological outcome was assessed as the difference between the functional neurological level of the defect and the X-ray level (ΔFAX).

Motor profile and cognitive functioning in children with spina bifida.

Background: Spina bifida is a complex neuroembryological disorder resulting from incomplete closure of the posterior neural tube. Morbidity in the different fields of motor and cognitive neurodevelopment is variable in nature and severity, and often hard to predict.

Aims: The current study investigates the relationship between cognitive functioning, fine motor performance and motor quality in children with spina bifida myelomeningocele (SBM) and SB-only, taking into consideration the cerebral malformations.

Compound muscle action potentials in newborn infants with spina bifida.

The aim of this study was to investigate the relationship between compound muscle action potentials (CMAPs) and neurological impairment in newborn infants with spina bifida. Thirty-one newborn infants (17 males, 14 females, mean gestational age 39 wks [SD 2]; mean birthweight 3336 g [SD 496]) with spina bifida were investigated at a median age of 2 days (range 1-18 d). Motor and sensory impairment and muscle stretch reflexes were assessed and neuroimaging was performed.

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

We discuss four cases of acid alpha-glucosidase deficiency (EC, 3.2.1.

PMTS and stress response sequences in parents of children with spina bifida.

Objective: To test the presence and progress of Pediatric Medical Traumatic Stress (PMTS) symptoms in parents of children with spina bifida (SB).

Methods: Parents of 23 newborns with SB were interviewed prospectively and parents of 58 school-aged children with SB were interviewed retrospectively. PMTS symptoms were assessed with 17 DSM-IV criteria for the clusters Intrusion, Avoidance, and Increased Arousal.

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

Failure to thrive, feeding difficulties, variable forms of infantile epilepsy or psychomotor developmental delay and hypotonia were the most frequent clinical disease presentations in eight children with combined oxidative phosphorylation enzyme complex deficiencies carrying mutations in the polymerase gamma (POLG1) gene. Five out of eight patients developed severe liver dysfunction during the course of the disease. Three of these patients fulfilled the disease criteria for Alpers syndrome.

Responses to lumbar magnetic stimulation in newborns with spina bifida.

Searching for a tool to quantify motor impairment in spina bifida, transcranial and lumbar magnetic stimulation were applied in affected newborn infants. Lumbar magnetic stimulation resulted in motor evoked potentials in both the quadriceps muscle and the tibialis anterior muscle in most (11/13) subjects. However, transcranial magnetic stimulation did not lead to any response at all.

Recurrence of febrile seizures in the respiratory season is associated with influenza A.

Objectives: To investigate the association of viral infections and febrile seizures (FS).

Study Design: From April 1998 to April 2002, a prospective, population-based study was carried out among general practitioners to assess the incidence of FS in their practices. Data thus obtained were compared with the incidence of common viral infections recorded in a national registry.