Subcortical band heterotopia (SBH) or ‘double cortex’, is a congenital brain abnormality that results from aberrant migration of neurons during development of the cortex. MRI shows a continuous band of heterotopic grey matter located between the cortex and ventricular walls, separated from them by a thin layer of white matter. The condition is quite rare, found predominantly in females, and is occasionally familial with an X-linked dominant inheritance. Current research has focused on genetic and neurological correlates, with cognitive assessment restricted to a global measure of general intellectual functioning. This paper describes in detail the results of a neuropsychological assessment of a 9-year-old female recently diagnosed with SBH. Predominant features were a significantly reduced speed of processing for visuomotor and oral output and reduced immediate registration of information. This difficulty has functional implications affecting skill acquisition, learning in the classroom, and social interaction.

The aim of the study was to find the epidemiological distribution of tic disorders and Tourette syndrome (TS) in Swedish school children aged 7 to 15 years. A total population of 4479 children and their parents were asked to fill in a questionnaire covering both motor and vocal tics. A three-stage procedure was used: screening, interview, and clinical investigation. Two hundred and ninety-seven children (190 males, 107 females) were found to have tics. TS, according to DSM-IV criteria, was found in 0.6% of the total population, another 0.8% had chronic motor tics, and 0.5% had chronic vocal tics. Further, 4.8% of the children had transient tics. All together 6.6% of 7- to 15-year-old children currently had or had experienced some kind of tic disorder during the last year. Prevalence of different tic disorders was higher among younger children and in males, and was highly associated with school dysfunction. The prevalence of TS was higher than was previously thought but other tic disorders were more common in this childhood population.

The purpose of this investigation was to quantitatively compare synergistic movement patterns between seven children (four male, three female; aged 3 to 17 years; mean 6.7, SD 5.3) without cerebral palsy (CP) (controls) and 27 children (15 male, 12 female; aged 2 to 16 years; mean 5.7, SD 3.7) with spastic diplegic CP before and after selective dorsal rhizotomy (SDR). The study design was also descriptive, comparing results of before and after SDR to control children. A two dimensional video system and retroreflective markers were used to obtain sagittal plane angles for the hip, knee, and ankle during maximum active knee flexion and extension. Correlations were calculated between the knee and hip and between the knee and ankle joint pairs. Control children demonstrated non-synergistic movement patterns (–0.75 and –0.61). These results were significantly different from children with CP (0.40 and 0.43, p<0.05). Eight months after SDR, synergistic patterns did not significantly change from preoperative results (0.23 and 0.36, p>0.05) and remained significantly different from control children (p<0.05). We conclude that it may not be possible to significantly alter synergistic patterns after SDR.

This study compared the functional efficacy of three commonly prescribed ankle–foot orthosis (AFO) configurations (solid [SAFO], hinged [HAFO], and posterior leaf spring [PLS]). Sixteen independently ambulatory children (10 males, six females; mean age 8 years 4 months, SD 2 years 4 months; range 4 years 4 months to 11 years 6 months) with spastic diplegia participated in this study. Four children were classified at level I of the Gross Motor Function Classification System (GMFCS; Palisano et al. 1997); the remaining 12 were at level II. Children were assessed barefoot (BF) at baseline (baseline assessment of energy consumption was performed with shoes on, no AFO) and in each orthotic configuration after three months of use, using gait analysis, oxygen consumption, and functional outcome measures. AFO use did not markedly alter joint kinematics or kinetics at the pelvis, hip, or knee. All AFO configurations normalized ankle kinematics in stance, increased step/stride length, decreased cadence, and decreased energy cost of walking. Functionally, all AFO configurations improved the execution of walking/running/jumping skills, upper extremity coordination, and fine motor speed/dexterity. However, the quality of gross motor skill performance and independence in mobility were unchanged. These results suggest that most children with spastic diplegia benefit functionally from AFO use. However, some children at GMFCS level II demonstrated a subtle but detrimental effect on function with HAFO use, shown by an increase in peak knee extensor moment in early stance, excessive ankle dorsiflexion, decreased walking velocity, and greater energy cost. Therefore, constraining ankle motion by using a PLS or SAFO should be considered for most, but not all, children with spastic diplegia.

Height is fundamental to assessing growth and nutrition, calculating body surface area, and predicting pulmonary function in childhood. Its measurement is hindered by muscle weakness, joint, or spinal deformity. Arm span has been used as a substitute, but is inaccurate. The objective of the study was to identify a limb measurement that precisely and reproducibly predicts height in childhood. Males (n=1144) and females (n=1199), aged 5 years 4 months to 19 years 7 months, without disability were recruited from Melbourne schools. Height, arm span, ulna, forearm, tibia, and lower leg lengths were measured with a Harpenden stadiometer and anthropometer. Prediction equations for height based on ulna length (U) and age in years (A) were developed using linear regression. Ulna centile charts were developed by the LMS method. For males, height (cm)=4.605U+1.308A+28.003 (R2=0.96); for females, height (cm)=4.459U+1.315A+31.485 (R2=0.94). Intra- and inter-observer variability was 0.41% and 0.61% relative to the mean, respectively. Height prediction equations from tibia, forearm, and lower leg length were calculated. We show that ulna measurement is reproducible and precisely predicts height in school-age children. It appears to be superior to arm span measurement when neuromuscular weakness, joint, or spinal deformity exists. Ulna growth charts should facilitate growth assessment.

The many concerns of parents of children with hydrocephalus have not previously been assessed using a reliable, quantitative measurement. The development and preliminary use of a questionnaire to measure the concerns of these parents is reported. A general health status measure for hydrocephalus was developed concurrently. Items were generated primarily from parent focus groups resulting in a comprehensive list of 22 unique parental concern items. The most important of these items, as selected by another sample of parents of 60 children (27 females, 33 males; mean age 8y 4mo, [SD 4y 6mo]) were retained for the final questionnaire. This 9-item parental concerns questionnaire was tested for reliability and construct validity (by assessing correlations with various independent measures of health status, including Health Utilities Index–2 and Impact-on-Family Scale) using a cohort consisting of the parents of 80 children (39 females, 41 males; mean age 10y, [SD 3y 6mo]). An exploratory analysis was performed to determine which patient variables were associated with greater parental concern. The parental concerns questionnaire demonstrated excellent test–retest reliability (0.86, 95% CI 0.77–0.92) and internal consistency (Cronbach's alpha=0.89). As expected, interrater reliability was somewhat lower (0.67, 95% CI 0.49–0.79). Construct validity was demonstrated by consistently moderate Pearson's correlations with several independent measures of the child's health. The presence of epilepsy and younger patient age appeared to be significantly associated with greater parental concern. This new questionnaire has demonstrated very good psychometric properties. It can be used to broaden the scope of future clinical research in pediatric hydrocephalus to include the impact on parents.

Although assessment of the quality of movement in children with cerebral palsy (CP) is difficult, the development of the Gross Motor Performance Measure (GMPM) has facilitated this process. In order to determine the interobserver reliability of the GMPM, 36 children with spastic neuromuscular disorders (mean age 7 years, range 4 to 15 years) were evaluated using four of the five dimensions of the GMPM. Percent Agreement, Intraclass Correlations, and Kappas were calculated by both dimension and attribute to determine reliability. In addition, reliability measures were evaluated over time to determine whether reliability improved with continual use of the GMPM. Overall, interobserver reliability was in the ‘fair to good’ category regardless of the reliability measure used in the analysis. Reliability scores improved over time with a greater number of individual item scores moving from the ‘fair to good’ category to the ‘excellent’ category. Results from this study indicate that it is possible to assess reliably the quality of movement in children with CP.

The Pediatric Pain Questionnaire and relevant medical records were used to investigate the frequency, intensity, location, and duration of pain experienced by children with spina bifida and to examine the concordance between child self-report and parent proxy report of pain. There were 68 children with spina bifida (30 males, 38 females) between the ages of 8 and 19 years (mean age 12y 8m). Fifty-nine children (87%) were diagnosed with myelomeningocele, six (9%) with lipomyelomeningocele, and three (4%) with lipomeningocele (4%). Forty-nine children (72%) had shunted hydrocephalus. Twenty-six children (38%) ambulated full-time. Fifty-six per cent of children reported experiencing pain once a week or more often. For these children, pain occurred most frequently in the head, back, abdomen, neck, shoulders, legs, and hands. Of the 49 children with shunted hydrocephalus, 43 (88%) reported headaches; 15 of 19 children (79%) without hydrocephalus reported headaches. Children who reported more intense pain also reported more frequent pain and more pain locations. Parents were most reliable at reporting locations of their children's severe pain. Parents of younger children significantly underestimated their children's current pain and worst pain in the past 7 days. Lesion level and ambulatory status were not associated with any of the pain variables. It was concluded that children with spina bifida frequently report clinically significant, yet under-recognized and untreated pain.

Little is known about long-term physical sequelae, cognitive functioning, and quality of life of children who have had a haemorrhagic stroke. Fifty-six patients (29 females, 27 males) under 16 years of age at time of the bleeding were studied. Mean age at time of bleeding was 7.7 years (range 1 month to 15.9 years). The primary site and cause of the bleeding at baseline were determined. Occurrences of death, re-bleedings, and seizures during follow-up were recorded. Patients who survived were invited for a follow-up examination including physical check-up, general screening of cognition, and an inventory of subjective health perception. Thirteen children died directly as a result of the haemorrhage; nine experienced a recurrent bleeding, which was fatal in three; six children developed epileptic seizures. At follow-up 36 of 56 patients were still alive. Mean follow-up time was 10.3 years (range 1.3 to 19.9 years) and mean age was 18.6 years (range 1.8 to 34.1 years). There was no patient lost to follow-up. Five patients declined to visit the hospital. In 15 out of 31 patients who could be examined, no physical impairment was observed, 11 had a hemiparesis of varying severity, and three had symptoms of cerebellar ataxia. One child had persisting tetraparesis and one persisting paraparesis. Signs of cognitive deficits were found in 15 patients. Of the children who survive haemorrhagic stroke, the physical and functional prognosis is relatively good, as almost all children were independent at follow-up. However, only a quarter of the surviving children had no physical or cognitive deficit after a mean follow-up period of 10 years. The majority had low self-esteem as well as emotional, behavioural, and health problems.

The influence of early cochlear hearing loss on maturation of the auditory pathway was studied by measuring auditory brainstem responses (ABR). In a retrospective study, 85 children with normal hearing (46 males, 39 females; age range 2 months to 14 years) and 165 children with binaural cochlear hearing impairment (89 males, 76 females; age range 1 month to 16 years) were examined. A significant positive correlation (p<0.001) between the degree of hearing loss and interpeak latencies I–V (IPLI–V) of the ABR was observed. No significant correlation (p=0.85) was found between hearing loss and interpeak latencies I–III (IPLI–III). These findings can be interpreted as indicating a marked delay in maturation of higher brainstem structures due to reduced auditory input during infancy. The correlation differs notably from results of comparable studies of adults published in recent literature. This leads to the assumption that the developing human brain is particularly sensitive to auditory deprivation. Thus, our results indicate the importance of a normal acoustic environment during sensitive periods in early childhood to ensure normal hearing and speech development.

A significant proportion of children who sustain traumatic brain injury will go on to experience disturbance in their academic, emotional, and social functioning. There is a role for medication in the treatment of these late onset changes. This review will focus on the recognition and pharmacological treatment of the most common and most problematic presentations that may follow head injury, and supports the use of stimulant medication for secondary attention-deficit–hyperactivity disorder despite the small evidence base for use in children.

An 8-month-old boy with global developmental delay, including visual and hearing inattention, was examined in the ophthalmic clinic. Monocular flash visual evoked potentials demonstrated a crossed asymmetry in scalp distribution, a feature considered to be pathognomic of albinism. Remarkably a foveal reflex was noted in each eye and this patient did not have nystagmus, iris transillumination, nor conspicuously pale fundi. The optic discs appeared normal. He was noted to have very fair skin and hair, with a small head and flat occiput. Cytogenetic studies demonstrated a microdeletion of the maternal chromosome 15q11–q13, and he was diagnosed with Angelman syndrome.

Gliomatosis cerebri is the unifying term used when diffuse glial infiltration occurs throughout the cerebral hemispheres. The very few cases reported in children have presented with intractable epilepsy, corticospinal tract deficits, unilateral tremor, headaches, and developmental delay. Antemortem diagnosis is difficult because of the vagueness of the physical, radiological and pathological findings. Adult cases may simulate an acute diffuse encephalomyelitis and show postmortem evidence of a marked swelling of the spinal cord. Apparently benign intracranial hypertension with papilloedema has also been recorded. We report a 10-year-old girl who presented with a history and physical signs suggestive of benign intracranial hypertension. A diffuse encephalomyelopathy occurred, which was complicated by spinal cord swelling, followed by deterioration and death. Gliomatosis cerebri affecting the brain and spinal cord was found at postmortem examination.

We report on seven children (five males, two females) who presented with marked, often asymmetrical, toe-walking from onset of independent walking, associated with abnormal foot postures and increased tone at the ankles with characteristics of dystonia. Most of the children had presented with unusual pre-walking locomotion and a mild delay in independent walking. They did not fit into the usual categories of ‘habitual’ toe-walking or congenital short tendo calcaneus but nor did they have the clinical signs of spastic diplegia or of a peripheral neuromuscular disease. Normalization occurred progressively in the second to fourth years of life. The children were re-examined several years later (1 to 11y) and were normal. We believe that their persistent toe-walking corresponded to a variant of ‘transient focal dystonia of infancy’. Knowledge of its existence may justify a period of observation without special investigations, surgery, or casting.

Constraint-induced movement therapy (CIMT) is becoming increasingly recognized as a potentially useful means of treating children with hemiplegia but meanwhile attracts vigorous criticism and controversy. It has been suggested that constraint therapy is physically and developmentally intrusive in a number of ways: preventing use of the normal hand leaves a child with a poorly functioning hand which could cause distress and frustration; restraining the uninvolved limb at a critically sensitive stage of development may theoretically compromise function; there is a possible danger from lack of protection in case of falls; and the activities a child may be asked to perform may be inappropriate for his capability, resulting in resentment and lack of motivation.

Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants' ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills, feeding problems, growth, breathing abnormalities, mobility, postural abnormalities and joint deformities, epilepsy, hand use and stereotypies, self-care, and cognitive and communication skills. Many previously reported trends in the presentation of RS over time were confirmed, notably the increasingly poor growth and near pervasiveness of fixed joint deformities and scoliosis in adulthood. In contrast, there was a slight trend towards improved autonomic function in adulthood, whereas feeding difficulties increased into middle childhood and then reached a plateau. Improvements in mobility into adolescence were followed by a decline in those skills in adulthood. Levels of dependency were high, confirming findings from previous studies. Despite the presence of repetitive hand movements, a range of hand-use skills was seen in individuals of all ages. Cognitive and communication skills were limited, but there was little evidence of deterioration of these abilities with age. These findings confirm that RS is not a degenerative condition and indicate that intervention and support to maintain and increase motor skills, daily living skills, and cognitive and communicative functioning are appropriate targets for individuals with RS.

Thrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis and infarction to be the presenting feature leading to investigation for homocystinuria and cerebrovascular lesions in the first year of life. We describe a previously healthy 6-month-old infant who presented with a large middle-cerebral-artery territory infarction and died of massive brain swelling. Homocystinuria due to cystathionine β-synthase (CBS) deficiency was diagnosed by metabolite analysis and confirmed by enzymatic activity measurement in a postmortem liver biopsy. Homocystinuria should be considered in the differential diagnosis of venous or arterial thrombosis, regardless of age, even in the absence of other common features of the disease. We recommend systematic metabolic screening for hyperhomocysteinemia in any child presenting with vascular lesions or premature thromboembolism.