There has been some controversy about whether the recessively-inherited disease infantile neuroaxonal dystrophy (IND; Seitelberger's disease) is a separate entity or a variety of pantothenatekinase-associated neurodegeneration (PKAN/Hallervorden–Spatz syndrome).

In patients with focal epilepsy, focal neurological dysfunction can occur due to status epilepticus and also as a post-ictal phenomenon. Bulbar dysfunction as evident by drooling, dysarthria, swallowing difficulties, and palatal–glossalpharyngeal weakness has been reported in conjunction with epilepsy. This is non-progressive and is correlated in its severity with the frequency of seizures. Accompanying EEG discharges are often localized to rolandic areas that cortically represent oral movements and salivation. We report a 6-year-old male and a 6½-year-old female with progressive bulbar dysfunction resulting from epilepsy. Ictal EEGs in patient 1 did not confirm a diagnosis of epilepsy. With no evidence of a cortical or brainstem focus from EEG or MRI, it is very difficult to explain the mechanism of bulbar dysfunction. The complete restoration of bulbar function after treatment with antiepileptic drugs demonstrates the need to consider epilepsy in similar clinical situations.

We present two siblings (male and female) with very similar characteristics comprising dysmorphic features, severe developmental delay, progressive microcephaly, tonic seizures, and hypothyroidism. The male also had micropenis and cryptorchidism. Both children developed pericardial effusions which caused the death of the female at age 16 months. The male's cardiac function was stable at last follow-up at the age of 15 months. Cerebral imaging showed widespread intracranial calcifications, delay in myelination, hypoplasia of the corpus callosum, and cerebral atrophy. CSF examination showed normal CSF white-cell count and was negative for interferon, although a cytotoxic antibody was thought to be present. Other causes of a neurodegenerative condition and congenital infection were excluded. The combination of these features has not been described before. We believe that these patients represent a new syndrome which has some of the features of Aicardi–Goutières syndrome but is distinct from it.

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.

The study aim was to quantify melatonin-associated improvement in sleep by means of a parent-completed sleep diary during routine outpatient activity. An investigation into sleep disturbance was made at neurology outpatient appointments. Those parents who identified a problem were asked to complete a sleep diary, after which treatment was initiated. The first week of the diary was completed before treatment, the second when established on the maximum dose of melatonin required. Forty-nine patients (26 males, 23 females) aged from one to 13 years, were treated between 1997 and 1998: 28 of these returned interpretable diaries. In a further 18 patients, an assessment could be made of the usefulness of the treatment. Patients were fairly typical of those attending a tertiary centre, the most common primary diagnosis being epilepsy (n=26). Only seven patients were visually impaired. Of the 46 patients who were assessed, 34 showed an improvement. No adverse effects were attributed to the treatment.

We report four previously healthy female children, aged between 3 and 8 years, who presented with encephalopathy and an extrapyramidal movement disorder (chorea n=4, rigidity n=2, oculogyric crisis n=2). In addition, an acute behavioural disturbance occurred in two patients and mutism in two others. Seizures heralded the onset of the illness in three patients. Acute MRI was either normal or initially normal with later generalized cerebral atrophy. All infective (including streptococcus), biochemical, and metabolic investigations were normal, although all four patients had oligoclonal bands in the (CSF) but not the serum, indicating intrathecal immunoglobulin synthesis. All four children made an apparently full recovery within four months of the onset.We suggest that these patients represent an immune-mediated movement disorder and encephalopathy syndrome.

The objective of this study was to determine the prevalence, circumstances, and outcome of fractures in males with Duchenne muscular dystrophy (DMD) attending neuromuscular clinics. Three hundred and seventy-eight males (median age 12 years, range 1 to 25 years) attending four neuromuscular centres were studied by case-note review supplemented by GP letter or by interview at the time of clinic attendance. Seventy-nine (20.9%) of these patients had experienced fractures. Forty-one percent of fractures were in patients aged 8 to 11 years and 48% in independently ambulant patients. Falling was the most common mechanism of fracture. Upper-limb fractures were most common in males using knee–ankle–foot orthoses (65%) while lower-limb fractures predominated in independently mobile and wheelchair dependent males (54% and 68% respectively). Twenty percent of ambulant males and 27% of those using orthoses lost mobility permanently as a result of the fracture. In a substantial proportion of males, the occurrence of a fracture had a significant impact on subsequent mobility.

Neuroborreliosis is an infection of the nervous system caused by the spirochete Borrelia burgdorferi, from which patients most commonly develop lymphocytic meningitis, radiculoneuritis, or cranial neuropathy. In this report a 9-year-old male with an unusual neurological complication of neuroborreliosis – benign intracranial hypertension (BIH) – is described. Clinical symptoms of BIH, which consist of increased CSF pressure in the absence of an intracranial mass or obstruction to the circulation of CSF, resolved completely after antibiotic therapy with ceftriaxone.

There are, certainly, similarities between Worster-Drought and congenital bilateral perisylvian syndromes, and it may be that, if not entirely the same, there is a continuum between the two. There does seem to be some confusion in the literature and a better option could be to abandon both these terms and include them under the heading of suprabulbar paresis: congenital and acquired.

Outcome research is a relatively new field of investigation sparked by a number of changes in the health care system. One such movement – the promotion of evidence-based practice – has increased the demand for outcomes data. The recent explosion in the development of practice guidelines and clinical care maps has relied on outcome studies so as to ensure that these clinical guidelines are based on scientific knowledge. Furthermore, the expanding application of outcome measures in the clinical field has enabled service providers to audit ‘outcome’ information for particular populations, thereby altering and improving resources and programs, and prioritizing needs. In the field of research, the National Center for Medical Rehabilitation Research, USA has placed a high priority on this area of investigation.

The most dramatic increase in brain volume occurs in the last three months of fetal life and the first two years after birth. Concomitantly, the skull follows the volumetric increase in the cerebral hemispheres mostly by passive adaptation. The relationship between head and brain growth explains why the classical neurological assessment in infancy universally includes measurement of head circumference (HC). However, this crude information derived from HC measurement remains insufficient to qualify brain growth. One way to better document the relation between brain and skull could be to rely on the correlation between HC and body growth parameters, given a general agreement on the definition of proportionate and disproportionate head–body growth. Significant information with respect to the integrity of the underlying cerebral hemispheres can also be provided by systematic palpation of the main cranial sutures. In particular, the distension or overlapping of the squamous sutures which are strategically located at the junction of the cranial vault and the cranial base could be a valid marker of brain growth disorder.

Stuttering, or stammering as it is also referred to, is a developmental speech disorder, which usually appears in children between the ages of 3 and 8 years. More often than not it remits before puberty, but it can persist into adult life. Stuttering is characterized by involuntary syllable repetitions, syllable prolongations, or interruptions (blocks) in the smooth flow of speech. There may sometimes be difficulty in differentiating infants who definitely stutter from those who show the dysfluency often seen in infancy as a normal stage of speech development. However, the two are distinct. The overall frequency of dysfluency, the proportion and duration of dysfluency types, and the associated behaviours not directly related to speech such as eye, head, and body movements, can help to distinguish between the two. There has certainly been controversy over the exact definition of stuttering when selecting participants for research studies. Wingate criticized Yairi and coworkers for not being strict enough in their selection of affected children and for including those who were classified as having stutter-like dysfluencies, especially whole-word repetitions. However, Yairi and colleagues refuted these claims, stating that although syllable repetitions are the most common component of stuttering, whole-word repetitions do occur in stuttering and therefore this is not a criteria for exclusion. In fact, whole-word repetitions seem to be more common when the onset of stuttering is early in life.

Folate was first isolated in an unknown form in 1941. The pharmaceutical form of folate is folic acid (pteroylglutamic acid). The major source of folate in the USA is food, with primary sources being grain products, especially fortified cereals, citrus fruits, and dried beans and lentils. However, the estimation of dietary intake of folate by food tables may not reflect actual intake because naturally occurring folate in the diet may be rendered inactive by cooking and food processing.

An infant is reported who presented with a de novo 21;21 translocation trisomy 21 and an atypical phenotype for Down syndrome (DS). Findings included microcephaly, small stature, downslanting palpebral fissures, absent Brushfield spots, moderate micrognathia, left ptosis, left torticollis, severe developmental delay, seizures, and hypertonia. Further clinical evaluation using both the diagnostic criteria for DS and the Jackson checklist of 25 signs was inconsistent with the diagnosis for DS. Blood karyotype revealed: 46,XX,+21,dic(21;21)(p11.2;p11.2). Fluorescence in situ hybridization (FISH) analysis confirmed the trisomy 21 translocation. Both parents had normal karyotypes. Chromosome and FISH analyses were performed on skin fibroblasts. These studies revealed mosaicism for a translocation trisomy 21 cell line as well as a second cell line consisting of one normal chromosome 21 and a ring chromosome 21 derived from translocation 21q21q which appeared to have a deletion of the critical region for DS involving the distal portion of the the long arm of chromosome 21. The chromosome findings illustrate an atypical phenotype in the spectrum of mosaic DS and suggest possible mechanisms for the variability of the phenotype. It also emphasizes the importance of evaluating other tissues for mosaicism when presented with atypical clinical findings.

Sixty-seven consecutive patients (59 females, eight males; mean age 13.6 years, age range 8.1 to 18 years) with adolescent idiopathic scoliosis were evaluated for segmental dystonia, thermal and vibratory thresholds, and cortical somatosensory evoked potentials (cSEPs). Clinically, there were no signs of segmental dystonia. No significant side difference was found in cSEPs and thermal thresholds. Vibration thresholds were increased on the right side with a significant side difference at all sites. However, these changes did not correlate to curve size, rotation, curve type, or convexity. It was concluded that, at the present level of somatosensory testing, no segmental neurophysiological disturbance can be related to the appearance of idiopathic scoliosis. The importance of asymmetric vibratory thresholds measurements cannot be deduced from this study.

Despite several trials showing reductions in tone and improvements in gait, the relation between botulinum toxin A (BTX-A) dose and response has rarely been investigated. A double-blind randomized comparison of two doses of BTX-A in children with spastic hemiplegic cerebral palsy (n=48, mean age 7 years 6 months, range 3 to 15 years) was undertaken. The two doses selected were representative of the lower and the higher doses used in clinical practice (24 units/kg body weight and 8 units/kg body weight). Using gait analysis we evaluated hip, knee, and ankle joint kinetics and sagittal kinematics throughout the gait cycle. Gastrocnemius muscle length was calculated at each visit using the method described by Eames and used as our primary outcome measure. Our secondary outcome variable was maximum ankle angle measured during stance and swing phases. In summary, we found that there were indications that 24 units/kg body weight was more effective and lasted longer than 8 units/kg. Analysis in terms of absolute dose suggested that the dose–response correlation was non-linear, and that the optimal range lay between 200 and 500 units BTX-A (Dysport).

This study aimed to investigate the extent to which gesture performance depends on input modality and whether gestural development patterns differ in children with and without developmental coordination disorder (DCD). Therefore, development of limb gesture was studied in 140 children – 105 control children(94 males, 11 females) and in 35 children with DCD (29 males, six females) divided into three age bands: 5 to 6 years, 7 to 8 years, and 9 to 10 years. Transitive gestural skills were investigated through four input modalities: Imitation, Visual plus Tactile , Visual, and Verbal. Results indicate that limb gestural skills in normally developing children follow a progressive maturation pattern: Imitation, Visual plus Tactile, and visual routes appear to mature before the verbal route and appear to be available earlier to enable the child to perform a correct gesture. The performance of children with DCD throughout the four modalities suggested a general maturational delay. When gestures were required through the Verbal modality, there was a specific deficit in using sensory–motor information and in integrating it into a motor representation. In the Verbal modality, children with DCD performed consistently worse than their control peers and the difference in performance tended to increase rather than improve with age.

This paper investigates gender differences in the peak latency and amplitude of the P1 component of the pattern-reversal visual evoked potential (pattern-reversal VEP) recorded in healthy term infants. Pattern-reversal VEPs in response to a series of high contrast black and white checks (check widths 120′, 60′, 30′, 24′, 12′, 6′) were recorded in 50 infants (20 males, 30 females) at 50 weeks post-conceptional age (PCA) and in 49 infants (22 males, 27 females) at 66 weeks PCA. Peak latency of the major component, P1, was considerably shorter in female compared with male infants. Differences in head circumference do not entirely account for the gender differences in peak latency reported here. A gender difference in P1 amplitude was not detected. These findings stress the importance of considering gender norms as well as age-matched norms when utilizing the pattern-reversal VEP in clinical investigations. Studies including a wider range of ages are clearly necessary in order to establish whether the earlier peak latencies in female infants represents a difference in the onset or rate of visual maturation.