Surface electromyography and accelerometry provide essential information on the neurophysiological characteristics of essential tremor. There are many reports on neurophysiological features in adult-onset essential tremor, but to our knowledge there have been no similar investigations of essential tremor in children. We conducted a neurophysiological study of nine children, six males and three females, with definite essential tremor. They were subdivided into two groups according to age: a ‘children's group’, consisting of four patients aged from 7 to 12 years, and an ‘adolescent group’, consisting of five patients aged from 14 to 16 years. Finger tremor as opposed to hand tremor was studied. In children the mean tremor frequency was 5.3Hz (SD 0.5) with arms extended, which increased to 8.2Hz (SD 1.5) when we added a mass of 300g. In adolescents the mean tremor frequency was 9.0Hz (SD 1.4) with arms extended, and 7.2Hz (SD 1.8) with added mass. We discuss several hypotheses to find an explanation for these results.

Previous neuroimaging research in Turner syndrome (TS) has indicated parietal lobe anomalies, while anomalies in other brain loci have been less well-substantiated. This study focused on potential cerebellar abnormalities and possible disruptions of interhemispheric (parietal) callosal connections in individuals with TS. Twenty-seven female children and adolescents with TS (mean age 13 years, SD 4 years 2 months) and 27 age-matched female control individuals (mean age 13 years 2 months, SD 4 years 1 month) underwent MRI. Age range of all participants was 7 to 20 years. Morphometric analyses of midline brain structures were conducted using standardized, reliable methods. When compared with control participants, females with TS showed reduced areas of the genu of the corpus callosum, the pons, and vermis lobules VI-VII, and an increased area of the fourth ventricle. No group difference in intracranial area measurements was observed. The reduced area of the genu in TS may reflect compromised connectivity between inferior parietal regions. Further, cerebellar vermis hypoplasia associated with TS agrees with literature that suggests the posterior fossa as a region prone to structural alterations in the face of early developmental insult.

Children with cerebral palsy (CP) often have poor linear growth during childhood, resulting in a diminished final adult height. Here we report a female with CP and short stature but without growth hormone (GH) deficiency who exhibited increased growth during treatment with GH. We also report two other children with CP who were treated with GH: one female with a history of leukemia, and a male with Klinefelter syndrome. These two children were both found to be GH-deficient by insulin provocative GH testing and responded to treatment with increased growth rate. Growth improved to a greater extent in the two children with apparent GH deficiency. In summary, it is felt that GH therapy might be beneficial for children with CP and warrants further investigation.

The aim of this study was to observe any changes in cardiac and respiratory function that occur during seizures. Thirty-seven children (20 males, 17 females; median age 7y 6mo, range 1y 6mo to 15y 6mo) were studied. We recorded electroencephalograms, respiratory rate, heart rate, electrocardiograms, blood pressure, oxygen saturation, heart rate variability (time domain analysis), and cardiac vagal tone. A respiratory pause was defined as an interruption in respiration lasting more than 3s but less than 15s. Apnoea was defined as absence of respiration for more than 15s. Tachypnoea was defined as a 10% increase in respiratory rate from the pre-ictal baseline. Bradypnoea was defined as a 10% decrease in respiratory rate from the pre-ictal baseline. Significant hypoxia was defined as a saturation of less than 85%. A significant change in heart rate was taken as a 10% increase or decrease below the baseline rate. Data were obtained from 101 seizures: 40 focal seizures, 21 generalized seizures, and 40 absences. Focal seizures were frequently associated with significant respiratory abnormalities, tachypnoea in 56%, apnoea in 30%, frequent respiratory pauses in 70%, and significant hypoxaemia in 40%. The changes seen in respiratory rate were statistically significant. Changes in cardiac parameters, an increase or decrease in heart rate, were observed in only 26% of focal seizures and 48% of generalized seizures. We conclude that seizure activity can disrupt normal physiological regulation and control of respiratory and cardiac activity.

In this issue Majnemer and Barr (p 370) bring to our attention two groups of 4 and 6-month-old infants, who had spent much of their time supine. As the authors describe some aspects of their immediate early development, I find myself being repeatedly reminded of other associated and longer-term aspects of position-related development. In their discussion the authors rightly remind us that ‘infant motor development involves a dynamic interplay between intrinsic maturation of the musculoskeletal and nervous systems and extrinsic experiences’. But what about genetic bias?

An unusual case of cervical spinal cord tethering with diplomyelia is described. A 12-month old female presented with self-mutilation of the fingers due to sensory loss in the hands, absent reflexes, poor muscle tone, and reduced distal upper-limb movements. There was a deep skin dimple overlying the T1 spinous process. Imaging showed angulation of the lower cervical cord and an operation revealed a low cervical meningocele and a split cord malformation with tethering of one half of the cord; the cord was untethered. In this report the literature is reviewed.

The objective of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) evidence reports is to provide the biomedical research and clinical practice communities with the current state of evidence about various interventions for the management of developmental disabilities. The AACPDM evidence reports aggregate all that has been published about outcomes of an intervention for a medical condition, gauge the credibility (i.e. strength of the internal validity) of that evidence, and identify gaps in our scientific knowledge. Methodology for developing and procedures for approving these systematic reviews can be found on the internet at www.aacpdm.org in the AACPDM Database of Evidence Reports, which contains initial and updated reports.

Lesions composed of Pacinian corpuscles or showing Pacinian corpuscle differentiation have usually been described in relation to benign tumours of the peripheral nervous system or reactive hyperplastic processes. On the other hand, mature Pacinian corpuscles have occasionally been detected as part of intraspinal lumbosacral lipomas, a rare developmental anomaly usually associated with spina bifida. A lesion of the cauda equina composed of numerous mature Pacinian corpuscles and nerve fascicles embedded in adipose tissue in association with spina bifida occulta is described in a 5-month-old male with a sacral red papula. Magnetic resonance imaging (MRI) revealed a cord-like mass in the region of the cauda equina, presumably connected to the subcutis. With the exception of a low lying, tethered spinal cord, there was no neurological deficit and the range of motor development was normal. In March 2005, at 17 months, surgery was carried out. A cord of yellow tissue was found running from the subcutis through the bone defect into the lumbosacral spinal canal. Intradurally, it ran parallel to the cauda equina, terminating at the conus medullaris. Fifteen months after the surgery the development of the child was normal. Only two similar cases have been reported so far. Due to their occurrence in the sacrococcygeal region and association with developmental anomalies, they have been regarded as malformations and the term Pacinioma has been suggested. Our case with clusters of Pacinian corpuscles may represent a rare variant of complex intraspinal lumbosacral lipomas, closely related to Paciniomas reported by Bale.

This study was designed to test the hypothesis that non-ambulatory patients with spastic quadriplegia will have reduced bone mass which worsens with increasing age. Forty-eight patients (age 5 to 48 years, median age 15 years; 19 females and 29 males) were studied. Anticonvulsants were used in 29 patients (60.4%). Lumbar spine bone mineral density (LS-BMD) was markedly reduced compared with age- and sex-matched control individuals with a z score of –2.37±0.21. Twenty-eight (58%) had z scores of less than –2. A history of documented previous fracture was present in 19 patients (39%). Patients with a history of fracture had significantly lower (p=0.05) LS-BMD z scores (–2.81±0.29) compared with those without a history of fracture (–2.11±0.26). Mean serum 25-OH vitamin D was 29.6±1.9ng/mL (normal 9 to 37.6ng/mL) with three patients having serum 25-OH vitamin D levels less than 15ng/mL. These findings indicate that BMD is markedly reduced in non-ambulatory children and adults with neuromuscular disease. Reductions in bone mass put them at greater risk for non-traumatic fractures.

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.

A case report of neonatal onset pyridoxine-dependent seizures in a male patient with early diagnosis and treatment is presented. The patient's epilepsy was recognized and treated with pyridoxine (vitamin B6) within 8 hours of birth. Treatment has been nearly continuous since that time. This paper reports the results of a full neuropsychological evaluation at age 37 years and MRI completed at age 31 years. Consistent with other case reports in the literature, there was a significant Performance IQ (PIQ) advantage with decreased Verbal IQ (VIQ) and expressive language skills (Full-Scale IQ 71, VIQ 64, PIQ 85). MRI demonstrated characteristic thinning of the posterior corpus callosum. This report provides an example of early treatment that nonetheless results in a mild mental retardation. The similarity of the structural changes on MRI and the cognitive profile of this patient to those of others reported in the literature suggest that the underlying mechanism for both may be the same.

We hypothesized that conventional phototherapy (CPT) and fibre-optic phototherapy (FPT) could exert different effects on cerebral blood perfusion. Our aim was to assess this hypothesis in a prospective study of the cerebral haemodynamics in preterm infants. Twenty-three infants (gestational age <34 weeks) were randomized for CPT (n=12) and for FPT (n=11). Cerebral Doppler ultrasounds were performed on all infants immediately before phototherapy (time 0), 6–12 hours (time 1) and 24–36 hours (time 2) after the start of phototherapy, and 6–12 hours after discontinuing phototherapy (time 3). CPT and FPT were associated with a significant increase of peak-systolic blood flow velocity and mean blood flow velocity at time 1 and 2, which disappeared at time 3, whereas end-diastolic blood flow velocity and resistance index were unchanged. No difference was shown between the groups. CPT and FPT were found to exert similar effects on cerebral haemodynamics. Both were associated with an increase of cerebral blood flow velocity which ended when phototherapy was stopped.

Professionals actively engaged in clinical trials involving patients with neurological damage must applaud researchers/clinicians who are willing to test popular clinical practices of equivocal or undetermined evidence. Kerr et al.'s study (p 870) is a major undertaking with sound scientific methodology. It is the fourth study published in DMCN in recent years that has failed to demonstrate the efficacy of neuromuscular electrical stimulation (NMES) in enhancing muscle force generation or improved functional ability of children with cerebral palsy (CP).