Diagnostic accuracy of referral criteria for head circumference to detect hydrocephalus in the first year of life.

Background: Increased head circumference is often the first and main sign leading to the diagnosis of hydrocephalus. Our aim is to investigate the diagnostic accuracy of referral criteria for head circumference to detect hydrocephalus in the first year of life.

Methods: A reference group with longitudinal head circumference data (n = 1938) was obtained from the Social Medical Survey of Children Attending Child Health Clinics study.

Surviving a brain tumor in childhood: impact on family functioning in adolescence.

Objective: To investigate family functioning in families with an adolescent survivor of a pediatric brain tumor. We explored whether adolescent, parent, disease and treatment factors, and demographic characteristics predicted family functioning.

Methods: In this cross-sectional study, 45 adolescent survivors of pediatric brain tumors and their parents completed self-report questionnaires on family functioning, and emotional and behavioral problems.

Survival prediction model of children with diffuse intrinsic pontine glioma based on clinical and radiological criteria.

Background: Although diffuse intrinsic pontine glioma (DIPG) carries the worst prognosis of all pediatric brain tumors, studies on prognostic factors in DIPG are sparse. To control for confounding variables in DIPG studies, which generally include relatively small patient numbers, a survival prediction tool is needed.

Methods: A multicenter retrospective cohort study was performed in the Netherlands, the UK, and Germany with central review of clinical data and MRI scans of children with DIPG.

At what age is hydrocephalus detected, and what is the role of head circumference measurements?

To investigate at what age hydrocephalus is detected and to assess the role of head circumference measurements in detecting hydrocephalus, we performed a retrospective chart review in children with hydrocephalus treated in a tertiary paediatric hospital in the Netherlands. The study group contained 146 patients; 38 patients (31%) were referred because of abnormalities in head circumference. Eighty-nine per cent of the patients were detected in the first year of life.

Imaging the course of a hypoplastic cerebellum in a spina bifida newborn.

Introduction: We report about a spina bifida patient with myelomeningocele at the lumbar level L5, extensive Chiari malformation type II with vermal herniation reaching to C6 with downward pontine shift, and a severe hypoplastic cerebellum. Chromosomal diagnostic tests showed no abnormalities.

Case Report: The infant experienced severe central apneas successfully treated with oxygen therapy and caffeine medication; functional motor level was established at L5 with sparse anal sphincter function.

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.

Spinal muscular atrophy with respiratory distress type 1 is an autosomal recessive disorder with early respiratory difficulties, distal muscle weakness, and contractures leading to foot deformities as the most striking clinical symptoms. Mutations of the gene encoding the immunoglobulin heavy chain μ-binding protein 2, mapped on chromosome 11q13, are the cause of the disease. We present the clinical and mutational characteristics of ten patients in the Netherlands who showed considerable clinical variability; they carried six novel mutations, including a deletion of exon 2.

Randomized controlled study of home-based treadmill training for ambulatory children with spina bifida.

Background: Many ambulatory children with spina bifida (SB) decline in their walking despite stable or even improved motor function.

Objective: The authors evaluated the effects of a home-based treadmill training program on both ambulatory function and aerobic fitness.

Methods: This randomized clinical trial of 34 ambulatory children with SB allocated 18 to supervised treadmill training for 12 weeks at home and 14 to usual care.

Reproducibility of maximal and submaximal exercise testing in "normal ambulatory" and "community ambulatory" children and adolescents with spina bifida: which is best for the evaluation and application of exercise training?

Background: With emerging interest in exercise and lifestyle interventions for children and adolescents with spina bifida, there is a need for appropriate measurements in exercise testing.

Objective: The purpose of this study was to assess both reliability and agreement of maximal and submaximal exercise measures in "normal ambulatory" and "community ambulatory" children and adolescents with spina bifida.

Design: This was a reproducibility study.

Noninvasive detection of the distinction between progressive and compensated hydrocephalus in infants: is it possible?

Object: Clinical signs and symptoms of hydrocephalus can be clear and specific, but also subtle, nonspecific, or even absent. It may be difficult to decide whether shunt placement is indicated, especially in infants. Therefore, there is a need for the development of better noninvasive detection methods to distinguish between compensated and (slowly) progressive hydrocephalus.

Is cognitive functioning associated with subjective quality of life in young adults with spina bifida and hydrocephalus?

Objective: To test the hypothesis that cognitive functioning is associated with subjective quality of life of young adults with spina bifida and hydrocephalus (SBHC).

Design: Cross-sectional multi-centre study in The Netherlands.

Subjects: A total of 110 young adults with SBHC (16-25 years old, 63% female).

New transcranial Doppler index in infants with hydrocephalus: transsystolic time in clinical practice.

Raised intracranial pressure (ICP) in infants with hydrocephalus may cause (ir)reversible damage to the brain parenchyma but can be present without clinical signs and/or symptoms. Therefore, new, favorably noninvasive, detection methods are needed to distinguish between compensated hydrocephalus with normal intracranial pressure and slowly progressive hydrocephalus with increased intracranial pressure. Because early ischemic changes in the brain parenchyma are associated with increased intracranial pressure, transcranial Doppler (TCD) indices may be useful to detect increased intracranial pressure in infants with hydrocephalus.

Longitudinal diffusion-weighted imaging in infants with hydrocephalus: decrease in tissue water diffusion after cerebrospinal fluid diversion.

Object: Progressive hydrocephalus may lead to edema of the periventricular white matter and to damage of the brain parenchyma because of compression, stretching, and ischemia. The aim of the present study was to investigate whether cerebral edema can be quantified using diffusion-weighted imaging in infants with hydrocephalus and whether CSF diversion could decrease cerebral edema.

Methods: Diffusion-weighted MR imaging was performed in 24 infants with progressive hydrocephalus before and after CSF diversion.

Treadmill testing of children who have spina bifida and are ambulatory: does peak oxygen uptake reflect maximum oxygen uptake?

Background: Earlier studies have demonstrated low peak oxygen uptake ((.)Vo(2)peak) in children with spina bifida. Low peak heart rate and low peak respiratory exchange ratio in these studies raised questions regarding the true maximal character of (.

Magnetic resonance imaging for quantitative flow measurement in infants with hydrocephalus: a prospective study.

Object: Raised intracranial pressure (ICP) that is associated with hydrocephalus may lead to alterations in cerebral hemodynamics and ischemic changes in the brain. In infants with hydrocephalus, defining the right moment for surgical intervention based on clinical signs alone can sometimes be a difficult task. Clinical signs of raised ICP are known to be unreliable and sometimes even misleading.

Neurological outcome in isolated congenital heart block and hydrops fetalis.

Objective: Isolated fetal heart block (HB), a condition associated with fetal hydrops, carries a high mortality rate and may result in neurodevelopmental sequelae. To the best of our knowledge, no data exist regarding the long-term outcome of such hydropic fetuses. We reviewed our experience with this condition to determine the neurodevelopmental outcome of prenatally diagnosed cases with isolated HB complicated by hydrops fetalis.

Outcome in pediatric hydrocephalus: a comparison between previously used outcome measures and the hydrocephalus outcome questionnaire.

Object: The objectives of this study were to assess, in a cohort of children with recently treated hydrocephalus, the correlation between scores on the Hydrocephalus Outcome Questionnaire (HOQ) and the children's type of schooling and motor functioning, and to assess the overall outcome of the children.

Methods: The health status of 142 pediatric patients (85 boys) with previous hydrocephalus, born between 1995 and 1999, was assessed. Outcomes were determined using the HOQ, type of schooling, and motor functioning.

Sumatriptan nasal spray in the acute treatment of migraine in adolescents and children.

About 4-10% of children and adolescents suffer from migraine. In the last few years, several studies have been performed to assess the efficacy and safety of triptans for the acute treatment of migraine in children and adolescents. Only sumatriptan nasal spray has been approved for the treatment of acute migraine with or without aura in adolescents aged 12-17 years in Europe.

MRI, volumetry, 1H spectroscopy, and cerebropetal blood flowmetry in childhood idiopathic anatomic megalencephaly.

Purpose: To evaluate cerebral abnormalities in childhood idiopathic anatomic megalencephaly (MC) by means of different magnetic resonance (MR) modalities.

Materials And Methods: MRI, volumetry, spectroscopy, and cerebropetal blood flowmetry were performed in six children with idiopathic anatomic MC, and seven volunteers.

Results: MRI revealed an increased ventricular system in five of six patients.

Functional independence among young adults with spina bifida, in relation to hydrocephalus and level of lesion.

Knowledge about the level of functional independence that can be expected in adulthood might support decisions on the treatment of newborn infants with spina bifida. This study determined functional independence among young adults with spina bifida and its relationships with pathological characteristics known from birth (hydrocephalus and level of lesion). Data were collected from medical records and by physical examination.

Sex education, relationships, and sexuality in young adults with spina bifida.

Objectives: To assess the adequacy of sex education and to determine the incidence of various difficulties encountered in relationships and sexual contact by young adults who have spina bifida (SB) with and without hydrocephalus (HC) in the Netherlands.

Design: Cross-sectional.

Setting: Community.

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.

We present a so far unrecognized X-linked mental retardation syndrome with features overlapping with Joubert syndrome (JBS). Two brothers showed hypotonia, mental retardation, ocular abnormalities with impaired vision and colobomas and a breathing pattern compatible with JBS. Neuroimaging revealed cerebellar vermis hypoplasia and ventriculomegaly.

Marginal maternal vitamin B12 status increases the risk of offspring with spina bifida.

Objective: The purpose of this study was to investigate B vitamins and homocysteine as risk factor for offspring with spina bifida.

Study Design: Blood samples from 45 mothers and their children with spina bifida and from 83 control mothers and their children were obtained to determine the levels of serum and red blood cell folate, serum vitamin B(12), whole blood vitamin B(6), and total plasma homocysteine.

Results: In the case mothers, the vitamin B(12) concentration was 21% lower (95% CI, 8%-33%) compared with control mothers.

1H magnetic resonance spectroscopy in human hydrocephalus.

Purpose: To evaluate cerebral metabolism in clinical hydrocephalus with (1)H magnetic resonance spectroscopy (MRS).

Materials And Methods: In 24 children and adults with progressive, arrested, or normal pressure hydrocephalus, long-echo time (1)H MR spectra were acquired from periventricular white matter and intraventricular cerebrospinal fluid (CSF). Metabolite ratios, and the presence of lactate, were compared with 38 age-matched controls.