Transdermal scopolamine may be used to reduce drooling in children with disabilities. Side-effects include dilated pupils and a reduction in the near point of accommodation (the closest point at which clear vision is possible). Two male children with epilepsy, one with spinal dysraphism (aged 7y 6mo) and one with cerebral palsy (aged 5y 8mo), who have undergone treatment for drooling with transdermal scopolamine are described. Near visual acuity was reduced, and both children showed dilated pupils with reduced or no response to light. These responses became normal on cessation of the scopolamine patch. As the effect of this drug may be cumulative, and many patients are unable to communicate difficulties, clinicians need to be aware of these possible side-effects.

Congenital bilateral perisylvian polymicrogyria syndrome (CBPS) has a cerebral cortical localization and its phenotype was thought to be purely central. This study of seven children with CBPS (five males, two females; mean age 5y [SD 3y 6mo]; range 1mo–11y 10mo) documents electrophysiological evidence of lower motor neuron involvement in association with congenital contractures (limb or jaw) in six of the seven children studied. This is not an expected association and does not conform to the traditional lesional classification system of the cerebral palsies. Possible pathogenic mechanisms are discussed but this association of upper and lower motor neuron involvement is likely to be a previously unsuspected part of a genetic or other pathogenic sequence.

This case series presents the outcomes of seven females with Rett syndrome and medically refractory epilepsy who were treated with adjunctive vagus nerve stimulation (VNS) therapy for a minimum of 12 months. Patients ranged in age from 1 to 14 years (median age 9y) at the time of implantation, had experienced seizures for a median period of approximately 6 years, and had failed at least two trials of antiepileptic drugs before receiving VNS. The median number of seizures per month was 150 (range 12–3600). At 12 months, six females had [ges ]50% reduction in seizure frequency. VNS was safe and well tolerated, with no surgical complications and no patients requiring explantation of the device. Quality of life outcomes of note among these patients included reports at 12 months of increased alertness among all seven patients. No change in mood or communication abilities was noted.

Pediatric feeding/swallowing specialists commonly observe infants and toddlers who present with gagging or significant behavior state changes as a result of touch to oral and body regions. To date, this behavior has not been fully characterized or documented experimentally. This paper describes an exploratory study aimed at filling in these lacunae and providing a possible explanation. The study compares the responses to firm tactile pressure of 40 children between the ages of 3 and 18 months. The experimental group consisted of 20 children (12 males, 8 females) with heterogeneous medical diagnoses, at least 2 weeks of alternative feedings during the first 3 months of life, and a common history of persistent feeding difficulties. The comparison group consisted of 20 children with an unremarkable medical history matched by age and sex to the experimental group. Firm, tactile pressure was applied in a predetermined sequence following dermatome regions from legs to mouth. Response was recorded in terms of presence/absence of gagging and/or behavior state changes. Fifteen of the 20 children in the experimental group showed gagging (14) or inconsolable crying (1) in response to touch. None of the matched comparison group demonstrated either gagging or behavior state changes. The experimental and comparison groups showed significant differences in response to tactile input. Further, the source of these abnormal responses must be sought in similarity of experience across heterogeneous medical diagnoses and interventions. One possible explanation is a history of oral deprivation due to alternative feedings.

A male and female with juvenile metachromatic leukodystrophy (MLD) with unusual manifestations are presented, each involving a novel arylsulfatase A gene mutation. One patient demonstrated acute intermittent encephalopathic episodes for 1 year after having received the diagnosis of MLD at the age of 6 years. The other patient presented at the age of 5 years with acute hemiparesis, which was diagnosed as acute disseminated encephalomyelitis and resolved in 3 weeks. After 2 years of remission he started to show progressive neurological deterioration. The episodic manifestations in both patients were associated with acute, resolving cerebral lesions on magnetic resonance imaging accompanying or preceding the classical demyelinating lesions of MLD. The diagnosis of MLD was based on arylsulfatase A enzyme activity levels and genetic analysis, and after the exclusion of neurological conditions such as encephalitis, vasculopathy, or mitochondrial disorders. The pathogenesis of this previously undescribed finding in MLD is unknown but might be related to a susceptibility of myelin to acute damage.

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.

The Mayo-Portland Adaptability Inventory (MPAI; designed to be administered by clinicians) is a popular measure of disability following head injury in adults. Its acceptability, validity, and reliability were assessed for use with children. There were 335 children and adolescents (215 males, 120 females) aged between 1 and 19 years at injury (median age 9y 8mo [SD 5y]) in our sample. The test was acceptable to respondents, rapidly and easily administered, and required only small modifications. It demonstrated validity against client and parent reports of major symptoms. It demonstrated test–retest reliability within the limitations of our data and excellent interrater accord. Consequently, the MPAI is recommended for paediatric use for evaluating rehabilitation needs and therapy outcome.

The aim of this study was to investigate sex-related differences in the prenatal development of early oral, lingual, pharyngeal, and laryngeal motor activities. Sonographic images of oral–upper airway regions were observed in 85 healthy fetuses (43 males, 42 females; mean gestational age 24wks 3d [SD 0.69]; range 15–38wks). Biometric data on morphologic development and associated motor patterns were compared across second and third trimesters. Results showed that while males and females demonstrated statistically similar patterns of general physical growth (p>0.05), significant differences in development of specific lingual and pharyngeal structures were present (p<0.05). Significant differences were found for laryngeal and pharyngeal motor activity, and oral–lingual movements (p<0.05). Complex oral–motor and upper airway skills emerged earlier in females, suggesting a sex-specific trajectory of motor development. It was concluded that differential patterns of prenatal motor development may be important in defining sex-specific indices of oral skill maturation.

Magnetic resonance spectroscopy (MRS) of a 12-year-old female patient with glutaric aciduria type II was compared with data obtained from four healthy age- and sex-matched volunteers. In the clinically active phase, conventional magnetic resonance imaging showed mild ventricular dilatation. Frontal lobe choline/creatine (Cho/Cr) ratio (1.98) was higher than the ratios reported for the comparison participants (1.64 [SD 0.21]). The N-acetylaspartate/creatine (NAA/Cr) ratio (1.95) was lower than normal limits (2.66 [SD 0.23]). After successful riboflavin treatment and dietary restriction for proteins, the NAA/Cr ratio was within the normal range (2.44) and Cho/Cr ratio was below the normal range (1.15), suggesting riboflavin-responsive multiple acyl-coA dehydrogenase deficiency. An elevated Cho/Cr ratio and decreased NAA/Cr ratio is consistent with a demyelinating process in the active phase of glutaric aciduria type II. MRS helps to monitor the progress of the disease and the efficacy of treatment by revealing changes in NAA/Cr and Cho/Cr ratios.

Pyruvate dehydrogenase (PDH) deficiency is a major cause of neurological dysfunction and lactic acidosis in infancy and early childhood. The great majority of cases (>80%) result from mutations in the X-linked gene for the E1α subunit of the complex (PDHA1). Mutations in the genes for the other subunits have all been described, but only dihydrolipoamide dehydrogenase (E3) and E3 binding protein (E3BP) defects contribute significantly to the total number of patients with PDH deficiency. Although previously considered rare, with only 13 reported cases, we have found that mutations in PDX1, the gene for the E3 binding protein, are in fact relatively common. Clinical, biochemical, and genetic features of six new patients (four males, two females; age range 15mo–6y) with mutations in this gene are compared with previously reported cases. All patients with E3BP deficiency identified to date have mutations which completely prevent synthesis of the protein product. However, they are generally less severely affected than patients with PDHA1 mutations, although there is considerable overlap in clinical and neuroradiological features.

Limb girdle muscular dystrophy 2A (LGMD2A), caused by calpain 3 deficiency, is currently diagnosed through the immunodetection of muscle protein by Western blot (WB) analysis . However, WB may provide normal results in patients with LGMD2A. The case of a female (3y 6mo of age) is described. She was found to be affected by asymptomatic hypercreatine-kinaesaemia during routine biochemical analysis at 10 months of age and had developed myopathic signs at the last neurological assessment. The WB of muscle biopsy performed at 28 months of age showed a normal quantity and pattern of bands for calpain 3. Despite this finding, on molecular analysis she was found to be a compound heterozygote for two mutations of the calpain 3 (CAPN3) gene (R110X and G222R). Autocatalytic activity assay showed a loss of function of calpain 3. This is the first genetically confirmed case of very early onset calpainopathy with a normal amount of protein at WB. Molecular analysis is also suggested in very young patients with normal WB.

The clinical efficacy of lidocaine for convulsive status epilepticus in 53 convulsive episodes was examined in 37 children (17 males, 20 females). Mean age of patients receiving lidocaine was 3 years 7 months (SD 3y 5mo). Lidocaine administration achieved control of status epilepticus in 19 of 53 convulsive episodes (35.8%). Seizures ceased within 5 minutes of lidocaine administration in all 19 patients who were responsive to the drug. Regarding aetiology of status epilepticus and types of seizures, there was no statistical difference in effectiveness. Mild decrease of oxygen saturation, monitored by pulse oximetry, was observed in one patient, which improved by oxygenation using a mask. Lidocaine is a useful anticonvulsive agent; however, the response rate to lidocaine appears to be quite low, as less than half of the seizures were effectively controlled by lidocaine. Favourable properties of the drug include prompt responses, less alteration of consciousness, and fewer adverse effects, including less respiratory depression.

A link has been postulated between regressive autism and the spectrum of epileptic encephalopathic conditions including Landau-Kleffner syndrome with the suggestion that subclinical epilepsy may be causative of regression in autism. This is an audit of investigation using sleep electroencephalograms (EEG) in 64 children (56 males, 8 females; mean age 35.6mo [SD 8.2mo]; range 18–48mo) with autism. No child had a history suggestive of epilepsy. Thirty-nine of the children presented with regressive autism and 20 of the participants showed some epileptiform abnormality. There was no significant difference in epileptiform activities in those who showed regression compared with those who did not. No child showed electrical status epilepticus with continuous spike-wave discharges in slow sleep. There was no evidence that these cases of autism with and without regression were associated with epileptic encephalopathy. The significance of epileptiform discharges without epilepsy in the sleep EEG in autism remains unknown.

We report a case of a 7-month-old male with primary intracranial haemorrhage 2 months after infection with varicella zoster virus (VZV). His initial clinical course was complicated by seizures and right hemiparesis; when last seen at 22 months the only positive finding was of left hand preference. Although the literature has recently established the association of arterial ischaemic stroke and VZV infection, primary intracranial haemorrhage has been reported only in one case. The child reported here had anterior interhemispheric haemorrhage due to a focal arteritis of the left anterior cerebral artery. The vascular abnormality was transient and had radiological features compatible with either a focal arteritis or vasospasm as a direct result of blood surrounding the vessels. We postulate that direct invasion of VZV caused extensive inflammation of the vessel wall and aggressive tissue penetration resulting in necrotizing angiitis and intracranial haemorrhage. We suggest that VZV infection should be considered a potential risk factor for intracranial haemorrhage in children.

We report the case of a male aged 2 years 6 months with left temporal lobe epilepsy who presented with ictal bradycardia syndrome leading to asystole. The clinical presentation was remarkable for the occurrence of clustering syncope. A seizure was recorded on a video electroencephalogram– electrocardiogram and analyzed. A cardiac pacemaker was implanted and antiepileptic drug treatment was initiated. We suggest that clustering of syncope is an important feature in the presentation of epilepsy in a young child.

The aim of this study was to investigate how parents cope with and care for a child with Dravet syndrome, a severe myoclonic epilepsy with three distinct stages. Twenty-four parents of children with Dravet syndrome participated in a semi-structured interview and 17 completed the Impact of Childhood Neurologic Disability Scale (ICND) questionnaire. Children included 11 males and 13 females aged 2 to 24 years (mean age 10y 2mo [SD 5y 8mo]). Stage 1 of the syndrome was generally very difficult. Uncertainty about the diagnosis was the primary cause of stress. Seizure control was worst during this time. The primary concern in Stage 2 remained seizure control but developmental, behavioral, and sleep issues also emerged. Negative effects were noted in parents' relationships with others. Stage 3 brought better seizure control but decreased cognitive level, increased behavioral problems, and increasing social isolation for parents. Respite and relief care were hard to obtain at each stage. ICND scores mirrored the findings of the interviews. The three stages of Dravet syndrome present serious challenges for parents. Seizures are persistent and severe but developmental, behavioral, and sleep issues add to the stress. In the absence of successful medical treatment for Dravet syndrome, further attention needs to be paid to helping families cope with the disorder.

The aim of this paper is to evaluate correlative magnetic resonance imaging (MRI) and histological parameters of development of cortical afferents during pathfinding and target selection in transient fetal cerebral laminas in human fetuses and preterm infants. The transient fetal subplate zone, situated between the fetal white matter (i.e. intermediate zone) and the cortical plate, is the crucial laminar compartment for development of thalamocortical and corticocortical afferents. The prolonged coexistence of transient (endogenously active) and permanent (sensory-driven) circuitry within the transient fetal zones is a salient feature of the fetal and preterm cortex; this transient circuitry is the substrate of cerebral functions in preterm infants. Another transient aspect of organization of developing fibre pathways is the abundance of extracellular matrix and guidance molecules in periventricular crossroads of projection and corticocortical pathways. Both the subplate zone and periventricular crossroads are visible on MRI in vivo and in vitro. Hypoxic-ischaemic lesions of periventricular crossroads are the substrate for motor, sensory, and cognitive deficits after focal periventricular leukomalacia (PVL). Lesions of distal portions of the white matter and the subplate zone are the substrate for diffuse PVL. The neuronal elements in transient fetal zones form a developmental potential for plasticity after perinatal cerebral lesions.

Narcolepsy often begins in childhood but is infrequently recognized, partly because of its many manifestations that can be confused with other conditions. The clinical presentations of excessive sleepiness, cataplexy, hallucinatory phenomena, and sleep paralysis (not always occurring together) are very varied. The picture may be further complicated by the occurrence of automatic behaviour, memory and visual problems, and associated sleep disorders, as well as the psychological and social consequences of having narcolepsy. Not surprisingly, therefore, misinterpretation of the symptoms as primarily psychological, or otherwise physical, may well occur leading to inappropriate management including initial referral to psychiatric or educational rather than neurological or sleep disorder services. The wide-ranging and special features of childhood narcolepsy need to be appreciated by health care and other professionals as well as by parents.

Children with developmental disabilities often show a variety of associated impairments that lead to a lifelong need for additional care. Careful assessment of these impairments is required not only for diagnostic purposes but also to inform the parents about the expected additional care needs in the future. We present a systematic review of the literature to identify instruments that classify the type and amount of this care for the individual child. A literature search was performed in the Medline database (January 1966 – June 2005) on instruments that classify the type and amount of expected additional care needs in the future. Seven standardized measurement instruments describing current additional care needs were identified, but none of these instruments was developed to provide information about the expected need for additional care in the future. For parents of young children with non-progressive developmental disorders it is essential to be informed on the expectations of required additional care in the future. However, comprehensive instruments providing such information are currently lacking and, thus, need to be developed.