To investigate the relationship between the presence of language disorder, type of epilepsy, and epileptic seizures in childhood, language levels, types of language impairment, and aetiologies were examined in 109 children, aged between 5 and 17 years, attending a national children's epilepsy assessment unit over a 4-year period. There were 70 males and 39 females. Median age was 11 years 4 months (range 5 to 18 years 9 months). In addition to neurological assessment, simultaneous video and EEG monitoring and prolonged ambulatory EEG, each child underwent a comprehensive series of multidisciplinary tests, including intelligence, language, and communication assessments. Classification of seizures and epilepsy syndromes was agreed in conference by a physician specializing in childhood epilepsies, a paediatric neurologist, and a neuropsychiatrist. Other test procedures were administered by a speech and language pathologist with assistance from a neuropsychologist when relevant. Level of language disability in these children was associated with a range of aetiological factors. Evidence was found of a significant number of associations between focal epilepsies, certain seizure types, and language disorder. Of the 46 (42.2%) children with language disorders in the research sample, 30 had localization-related epilepsies and a further three had epilepsies which were undetermined as to whether focal or generalized. Children with focal epilepsies were 30% more likely to have language disorder than other language disability subtypes. The research demonstrated a clear though often subtle association between focal (localization-related) epilepsy and language disorder, indicating an increased risk in this patient group. Children with simple or complex partial seizures were more likely to have language disorder than other language disability subtypes; they also tended to have the lowest number of seizure types per case. This is of importance to clinicians managing children with epilepsy and has implications for their educational and social welfare.

The aim of this study was to characterize impairments of hand function in individuals with myelomeningocele (MMC) using a quantitative method. A grip–lift task was studied in 29 individuals with MMC (17 females, 12 males; mean age 12 years 4 months, SD 5 years 6 months; range 4 to 28 years) and 29 age- and sex-matched control participants. A small object (weight 200g) was grasped and lifted with a precision grip of the dominant hand and grip forces (GF) and time intervals were measured. Sensibility was examined with a two-point discrimination test. In those with MMC, the latency between GF onset of the thumb and index finger and ensuing preload duration were both significantly prolonged (p<0.01). Fingertip forces were excessively high and variable. Several parameters differed significantly between those with MMC and control individuals: GF peak, GF at start of loading, mean GF, and the SDs of the GF during static holding. Although the two-point discrimination task indicated deficits of sensibility, these did not correlate with grip force parameters. Results demonstrate that fine motor skills in patients with MMC are impeded by slowness and inadequate adjustments of manipulative forces.

Foreword 2

Members of the Organizing Committee 3

Keynote Speakers 4

Invited Speakers 21

Posters 48

Index 56

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.

In the present study we hypothesized that the self-injurious behavior (SIB) of a 12-year-old male diagnosed as having autism and severe mental retardation was maintained by automatic reinforcement. Further, we hypothesized SIB served a sensory reinforcement function related to sensation at the skin surface. The participant engaged in high rates of SIB in the form of self-slapping. A functional analysis resulted in undifferentiated findings. Additional observations indicated that SIB occurred only to exposed skin surfaces. To test for a sensory function, we applied a topical anesthetic to the participant's skin. SIB was reduced by 20 to 60% after application of the dermal anesthetic. These results support an automatic reinforcement hypothesis. Implications for treatment are discussed.

Inter- and intrahemispheric somatosensory functions were evaluated in blinded tests of 11 children with partial and complete agenesis of the corpus callosum (age range 2 years 8 months to 11 years 9 months) and compared with those of age- and sex-matched control individuals both normally developing and with neurological impairment. Tests included uni- and bimanual measures of stereognosis, haptic visual discrimination, kinaesthesis, and texture matching. Children with callosal absence displayed significant difficulties with many somatosensory functions, but most deficits were no greater than those of the children who had neurological dysfunction and an intact corpus callosum. Children with callosal absence, however, had significantly greater difficulty with bimanual texture matching, seemingly because this task required refined spatial interpretation of somatosensory input. Response times for the individuals with callosal absence were significantly greater than those for control participants with neurological impairment on several tasks in which overall accuracy of performance among groups did not significantly differ. These findings suggest that children with agenesis of the corpus callosum may have less efficient and slower processing capacity for certain types of somatosensory information. Possible compensatory mechanisms are discussed.

Eye research in infants who experience significant perinatal complications has been restricted to evaluation of structural ocular disease and spatial vision, and results show that these aspects of vision are at increased risk for abnormal or delayed development. To expand upon previous work, a battery of 17 vision tests was employed to assess, comprehensively, long-term outcome of functional vision. Seventy-six children (38 males, 38 females), between the corrected ages of 2 years 11 months and 10 years 2 months (mean 6y 6mo) with various significant complications (e.g. very preterm birth, bronchopulmonary dysplasia, intraventricular hemorrhage) were compared to normally developing, age-matched control children (n=61; mean age 7y 1mo) on measures of visual acuity, contrast sensitivity, stereoacuity, peripheral vision, color vision, astigmatism, and binocular alignment. Results showed that at-risk children had more test results that fell within the suspect or abnormal range. At-risk children also had a slightly higher incidence of ocular disorders (e.g. strabismus) and refractive error. These data imply that children who experienced significant perinatal risk factors are at risk for long-term deficits of functional vision. However, most of these deficits appear to be relatively mild.

In the current practice of physical therapy for children with chronic physical disabilities, more and more attention is paid to parental participation. In the past, physical therapy was mainly impairment oriented, with supposed effects on the daily functioning of the child. It was the exclusive domain of therapists and physicians. Parents were usually not involved in the therapy for their children. It was not until recently that physical therapists became more aware of the possible role of parents. In the early 1980s an important development in this area started. The role of parents changed from a passive one into an active participating one. Parents became a sort of co-therapist, meaning that while therapists decided on the treatment goals and methods, parents were expected to perform the treatment activities at home in cooperation with the treatment activities of the therapist in the clinic. Since then, the discussion about the optimal role of parents in the physical therapy of their children has continued. This discussion has resulted in the current belief that parents should be actively involved, and should be working with therapists as equal partners in deciding the goals and content of the physical therapy for their children.

A diagnosis of 22q.11 deletion syndrome (del22q.11) in a child brings with it a plethora of uncertainty in terms of developmental and neuropsychiatric prognosis. This relatively common genetic disorder has a highly variable phenotype with a multitude of potential physical features including palatal anomalies, congenital heart defects, facial dysmorphism, immunodeficiency, and hypoparathyroidism. As a result, patients may present in paediatric, cleft lip/palate, psychiatric, or antenatal clinics. It is necessary, therefore, that the multidisciplinary team are aware of this diagnosis. The overall clinical phenotype ranges from subtle isolated findings to severe multisystem involvement, even in the same family. The neurobehavioural phenotype is also highly variable. The spectrum of developmental delay, learning difficulties, behavioural problems, speech and language deficits, and psychiatric disorders seen in del22q.11 is well recognized. The implications for parents, medical professionals, educational staff and, indeed, the patients are significant. Thus, better understanding of the cognitive and behavioural problems could lead to the development of effective, targeted interventions and improved management.

‘Low doses of pamidronate to treat osteopenia in children with severe cerebral palsy: a pilot study’ Plotkin et al. DMCN Vol 48: 709–712

We would like to correct an error that was printed in the above mentioned article: p 711: The sentence ‘Ionized calcium levels in those three cases were 1.01, 1.09, and 1.11mg/dl respectively.’ should have read: ‘Ionized calcium levels in those three cases were 1.01, 1.09, and 1.11mmol/l respectively.’

We sincerely apologize for this error.

This study examined the auditory status of females with Rett syndrome (RS) using auditory brainstem response (ABR) testing and measures of acoustic admittance. Prevalence of hearing impairment in 81 female patients (age range 1 year 3 months to 39 years 8 months; mean age 8 years 7 months, SD 6 years 4 months) was evaluated with ABR measurements. If the ABR latencies at 20dB nHL exceeded those of the normative group, a slight hearing loss was diagnosed. For ABR thresholds in the range 30 to 40dB nHL, a mild hearing loss was determined; moderate hearing loss was diagnosed for ABR thresholds in the range 50 to 60dB nHL. Bilateral hearing loss was found in 16 (19.3%) patients and unilateral hearing loss in 13 (16%) patients. Bilateral hearing loss of moderate degree was found in one patient. No patient was found with severe hearing loss (ABR threshold of 70dB nHL and above) in either ear. Slight hearing loss was found in 10.5% of ears (17 of 162), mild hearing loss in 14.2% of ears(23 of 162), and moderate hearing loss in 3.1% of ears (5 of 162). In 72.2% of ears (117 of 162), findings indicated the presence of normal peripheral auditory sensitivity. Prevalence of sensorineural hearing loss was 17.3% (28 of 162). Evidence of conductive involvement (conductive and mixed hearing loss) was observed in 9.9% of ears (16 of 162). In this cross-sectional study, the prevalence of hearing loss was increased in older RS participants and in those with seizures requiring the use of anticonvulsants. Neither the type of hearing loss nor the presence of preserved speech seemed to be correlated with the type of mutation in methyl-CpG-binding protein 2 (MeCP2) gene that is associated with RS.

Two male patients (a child and an adult) with congenital mirror movement were studied using functional MRI (fMRI) and transcranial magnetic stimulation (TMS). Bilateral primary sensorimotor cortices were activated during unilateral hand gripping on fMRI when the child patient was 8 years old and the adult was 37 years old. Bilateral motor evoked potentials were induced from the hand and forearm muscles after TMS of each hemisphere. Bilateral motor responses were also induced from the arm muscles in the adult patient. Bilateral motor responses had short and similar latencies. Contralateral motor responses to TMS were smaller than ipsilateral ones in the hand muscles, while contralateral responses were larger than ipsilateral ones in the arm muscles. Contralateral hand motor responses reduced in amplitude or disappeared with increasing age while in the child patient, mirror movements decreased gradually. Our results suggest that bilateral activation of the primary sensorimotor cortices during intended unilateral hand movement and bilateral motor responses to TMS account, at least in part, for the pathophysiology of congenital mirror movement. Reduction of contralateral hand motor responses may be related to the decrease in mirror movements during development.

Children with attention-deficit–hyperactivity disorder (ADHD) have difficulties with motor control, inhibition of motor responses, motor flexibility, and motor preparedness. We proposed that motor abnormalities in ADHD might result, at least in part, from an abnormal neuronal oscillatory mechanism necessary for motor temporal regulation. The aim of this study was to assess pacing in children with ADHD, by testing for rhythmic abnormalities of motor activity using a tapping test. Twenty-seven children (21 males, six females; aged 6 to 14 years 6 months; mean age 11 years 4 months, SD 2 years 2 months) diagnosed with ADHD according to DSM-IV clinical criteria, and 33 controls (25 males, eight females; aged 6 to 14 years 6 months; mean 11 years 1 month, SD 2 years 2 months), underwent a finger-tapping test requiring rhythmic responses to frequencies from 1 to 6Hz. All participants who were treated on a daily basis with methylphenidate (n=22) were medication-free on the day of the test. Most of the children with ADHD responded at a constant rate regardless of stimulus frequency, a phenomenon only seen in a small number of the controls. This specific error pattern, also seen in Parkinson's disease, has been attributed to an abnormal oscillatory mechanism mediated by dopaminergic fronto-striatal circuitry, which might also be pathophysiologically relevant for ADHD.

Fibromuscular dysplasia (FMD) is a systemic arteriopathy which tends to affect renal arteries followed by cervicocranial vessels. It can lead to cerebral infarction if cephalic arteries are involved. FMD is an unusual cause of stroke in childhood that generally affects the carotid area. Only four cases of vertebral FMD and subsequent stroke have been reported previously and we present the youngest patient of all. A healthy 3-year-old female was admitted to Hospital Doce de Octubre in Madrid, Spain with cerebellar infarction. Angiography disclosed basilar artery thrombosis and typical signs of FMD in both vertebral arteries. No other angiographic alteration was noted in the other vessels studied. Her phenotype and other investigations were unremarkable. The patient was treated with anti-aggregation therapy (aspirin) and the outcome was excellent. Investigation of the occurrence in childhood of this kind of arteriopathy may lead to clarification of its natural history and speculation about its unclear pathogenesis.

A 6-year-old female presented with right hemichorea, initially thought to be post-streptococcal, which subsequently progressed to a right dystonic hemiplegia. At 7½ years she developed right focal and secondary generalized tonic–clonic seizures. These became intractable. A brain biopsy was consistent with Rasmussen's encephalitis (RE). At 9½ years the child underwent a left hemispherectomy making a good recovery with resolution of seizures. At 12 years she presented with recurrent episodes of abdominal pain, fever, and malar rash with serological evidence of systemic lupus erythematosus (SLE). A possible link between RE and SLE is discussed.

Subdural hemorrhage (SDH) detected postnatally in the newborn infant is usually related to trauma at the time of vaginal delivery. With improvement in obstetric methods, the incidence of this problem has declined. However, with advances in obstetric ultrasonography, it has been recognized that SDH may occur in utero before the onset of delivery. Intrauterine SDH remains a rare event. A review of the literature revealed only 32 cases to date (Tables I and II). Neonatal SDH is venous in origin and associated with trauma in most cases. Etiopathogenesis of neonatal SDH is explained by shearing of bridging veins or other venous structures caused by trauma. Instrumental delivery (forceps or vacuum extraction) causes distortion of the infant's cranium with elongation of the falx and angulation of the tentorium, leading to tearing of posterior fossa venous structures and bleeding into the subdural space. Rupture or tearing of large venous channels, such as the great vein of Galen, straight or transverse sinus or falx laceration with rupture of the sagittal sinus, result in accumulation of blood in both the supratentorial and infratentorial compartments. However, etiopathogenesis of intrauterine SDH is less certain. The fetus is usually well protected from direct abdominal trauma by maternal structures and amniotic fluid. Fetal intracranial vessels may be susceptible to shearing or acceleration/deceleration forces because of the following features: first, the head is large and neck muscles weak; this allows more rotational movement with angular acceleration. Second, the subarachnoid space is larger, allowing the brain to move within the cranium easily. Third, the fetal brain has a higher water content that increases its mass and allows it to develop more momentum when acceleration is applied. These unique conditions could make the fetus more susceptible to developing subdural hematomas and allow the development of subdural hematomas without obvious trauma.

A female child presenting with acute flaccid paraparesis at 18 months was found to have a dermal sinus in combination with a dermoid cyst and a myxopapillary ependymoma of the cauda equina and conus medullaris. A possible embryologic relation between these lesions is discussed.