Disclosing a neurodevelopmental disorder to parents is always difficult, in spite of current training in this task. Regardless of how well trained we are, we will always find the task difficult and often worry we have got it ‘wrong’. However, I have found myself almost thanked when telling parents that their child still has a problem. Often these parents have sought a second or third opinion after being told their child was healthy.

In 73 patients with myelomeningocele (mean 17.2 years, range 5 to 40 years) the classification of level of lesion was studied according to six commonly used classification systems and to the ambulation groups of Hoffer. The distribution of the patients into classes of thoracic-level lesions was the same for four classification systems in 10 patients and for two classification systems into categories of level L3 in 14 patients. For the other patients discrepancies occurred between systems for lesions of level L3 and downward. None of the patients was consistently categorized in the functional ambulation groups of Hoffer using all classification systems. The results show that it is not possible to compare neurological lesion levels classified according to the different systems described in this study and consequently that the distribution into the functional ambulation groups of Hoffer varies. To enhance communication and facilitate comparing the results of treatment we suggest using some basic criteria for patient documentation.

The underlying risk factors, presenting features, and outcome of 22 children with sacral agenesis and associated neuropathic bladder were studied retrospectively. The age of children at presentation was bimodally distributed, with peaks below 1 year and between 4 and 5 years of age. Ten patients presented after 1 year. The oldest was diagnosed at 12 years of age. In 12 children there was maternal diabetes, orthopaedic anomalies in 14, skin defects in 11, and anorectal/tracheooesophageal anomalies in three. Most children had persistent dribbling of urine on presentation associated with frequency, urgency, recurrent urinary tract infections, failure to respond to medication, and/or constipation. Twenty-one children had abnormal neurology in the lower limbs. Videourodynamics showed neuropathic vesicourethral dysfunction in all children and vesicoureteric reflux in 10. Nineteen had a history of urinary tract infections. Seven had renal scarring, with renal impairment in three at presentation. Clean intermittent catheterization was recommended for 20 of the children. Bladder or bowel surgery has been carried out in seven and neurosurgery performed in two. Twenty of the 22 children underwent operative procedures. Ten operations were performed before sacral agenesis was diagnosed. Over a third of the children have required psychological support. The combination of urinary symptomatology and any of the above risk factors should give rise to a high level of suspicion and low threshold to perform investigations to exclude sacral agenesis. All these children have abnormal bladder and urethral function which not only causes incontinence but puts the kidneys at risk. Early detection allows effective multidisciplinary input specifically aimed at continence, preservation of renal function, and adequate psychological support.

Benign childhood epilepsy with centrotemporal spikes (BCECTS) is a well-known idiopathic age- and localization-related epileptic syndrome with characteristic clinical and EEG manifestations. Due to the reported benign evolution of this epilepsy syndrome, neuropsychological assessment has been considered unnecessary. However, the benign nature of BCECTS has recently been challenged: verbal dysfunction as well as impaired visuomotor coordination, specific learning disabilities, and attention deficit have been noticed. These findings prompted this research study in which all children with BCECTS attending our epilepsy clinic underwent neuropsychological assessment. Seventeen children (10 boys and seven girls) aged 7 to 14 years were investigated with a neuropsychological test battery focusing on immediate and delayed recall of auditory-verbal and visual material, verbal fluency, problem-solving ability, and visuospatial constructional ability. Raven's coloured matrices and questionnaires regarding school functioning and behaviour were also administered. The children were matched with control subjects for age, sex, and school. Children with BCECTS had significantly lower scores than their control subject partners on the neuropsychological items. Intellectual abilities did not differ and neither did school functioning or behaviour according to teachers. Parents, however, recognized greater difficulties with concentration, temperament, and impulsiveness in children with BCECTS.

Three seizure types have been described in the neonate: electroclinical, electrographic, and clinical only. Controversy still exists about whether the episodic abnormal movements seen in some infants, which are not accompanied by simultaneous ictal discharges on the EEG, are true seizures. Twenty-four infants with seizures were studied, 17 had purely electrographic and/or electroclinical seizures, seven had clinical-only seizures; six of these seven had clonic seizures, without facial manifestations or autonomic change. The three seizure types were investigated using video-EEG and a Griffiths neurodevelopmental assessment was performed in each seizure group. Of the seven infants with clinical-only seizures, six had clonic seizures with a normal background EEG, neuroimaging studies and neurodevelopmental follow-up assessment were normal in five. In the remaining 17 infants with electrographic and/or electroclinical seizures, seizure discharges were often associated with ocular phenomena, apnoea, or tonic posturing, and the background EEG was abnormal in all but one subject. Neurodevelopmental follow-up assessments revealed a poor outcome(14 of 17) in this group. In otherwise healthy infants, purely clonic seizures involving only the limbs may be a benign phenomenon and an EEG should be obtained to avoid unnecessary treatment. Infants with seizures superimposed on an abnormal background EEG pattern had a poor outcome.

This study sought to determine whether neonatal cranial ultrasound abnormalities are related to motor and cognitive outcomes in low-birthweight (LBW, <2000 g) children without major motor or cognitive disability. The relation of neonatal cranial ultrasound abnormalities to motor performance and general cognitive ability at ages 2, 6, and 9 years was examined in a prospectively followed regional cohort of LBW children, excluding those with major disability, and controlling for other risk factors. Compared with children without ultrasound abnormalities, children with abnormalities indicative of ischemic white-matter injury had poorer motor performance at all three ages and, at age 2, lower general cognitive ability. The latter finding was not seen when motor performance was also controlled for. It was concluded that in LBW children without major motor or cognitive disability, ischemic white-matter injury indicated by neonatal cranial ultrasound abnormalities adversely affected motor performance at ages 2, 6, and 9 years, but not general cognitive ability.

As part of a wider survey of parents of children with autistic spectrum disorders in the UK, the diagnostic experiences of 614 parents of children with autism and 156 with Asperger syndrome were compared. Although the ages of the children in the two groups were very similar at the time of the survey, parents of children given a diagnosis of Asperger syndrome had experienced significantly longer delays and greater frustration in obtaining a diagnosis than those with a child with autism. In the ‘autism group’ the average age when diagnosis was confirmed was around 5.5 years; in the ‘Asperger group’ it was 11 years. Parents of children with a diagnosis of autism were generally aware of problems in their child's development by 18 months of age; in the Asperger group concerns emerged later, at around 30 months of age. Initial worries in both groups centred around abnormal social development but parents of children with Asperger syndrome were less likely to have noted communication problems. Stereotyped or repetitive behaviours were not prominent in the early years in either group. Despite the problems inherent in data collected by postal survey, many of the findings of this study are supported by other research. The practical implications of delayed diagnosis, especially in the case of more able children with Asperger syndrome are discussed.

An 8-year-old girl is described who presented with seizures. These were subsequently found to be pseudoseizures, with no EEG changes. They were provoked by pain from cervical ribs. This cause of pain-provoked pseudoseizures has not previously been described.

We describe the clinical presentation, course, and treatment response of a 14-year-old boy with catatonic stupor. This patient, with a preexisting diagnosis of autism, displayed mutism, akinesia, and an extreme level of rigidity, waxy flexibility, posturing, including the psychological pillow, facial grimacing, and other involuntary movements of his upper extremities. In addition he had symptoms suggestive of a depressive disorder as well as some non-specific psychotic symptoms. Intravenous injection of sodium amytal failed to resolve any motor symptoms, although he showed a good response to the zolpidem test. A course of electroconvulsive therapy (ECT) caused dramatic and sustained relief of catatonic stupor without a change in the symptoms of autism. The presentation of catatonia in autism and the use of ECT in children are discussed, and the available literature reviewed. This is the first description of the use of ECT in the treatment of catatonia coinciding with autism and we confirm its efficacy.

Idiopathic toe-walking (ITW) is a term used to describe the condition in which children walk with a toe–toe gait pattern in the absence of any known cause. It has also been referred to as habitual toe-walking and congenital short tendo calcaneus (tendo Achilles).