damage to the occipital lobe of the brain results in hemianopia when unilateral, and cerebral blindness when bilateral. however, in some cases a degree of visual function persists in the blind visual field. this aim of this study was to describe this phenomenon of ‘blindsight’ in a cohort of children with brain-damage and to relate the clinical features to their visual evoked potentials. we performed a retrospective analysis of 541 case records of children referred to a tertiary vision-assessment clinic in the royal hospital for sick children, glasgow, uk from 1992 to 2002. a total of 541 patients were analyzed (243 females, 298 males; age range 2mo to 19y 6mo, mean 6y 2mo). in 19 children with profound visual impairment and four children with hemianopia (12 females, 11 males; age range 1 to 18y, mean age 8y 3mo), evidence of perception of movement in the blind visual field was found and is described. flash visual evoked potentials varied from no response to normal and was not correlated with visual behaviour. recognition, detection, and use of this phenomenon in children is vital to their rehabilitation and interaction with their surroundings.

We present a 9-month-old male with acute rotavirus gastroenteritis who developed an acute encephalopathy with focal seizures and developmental regression. Magnetic resonance imaging showed bilateral striatal necrosis and raised glutarylcarnitine levels on tandem mass spectrometry of a (crisis) blood spot, and chromatography of organic acids revealed increased urinary excretion of dicarboxylic acid. Skin biopsy demonstrated a partial decrease in glutaryl-CoA dehydrogenase activity. The case was not typical for either rotavirus encephalitis/rotavirus-associated encephalopathy or for glutaric aciduria type I. The patient has developmental delay and continues to receive physiotherapy, speech therapy, and local developmental follow-up.

Pallister–Killian syndrome (PKS) is a rare, sporadic, genetic disorder characterized by dysmorphic features, learning disability, and epilepsy. It is caused by a mosaic supernumerary isochromosome 12p (i[12p]). The i(12p) is rarely found in peripheral blood but it is present in skin fibroblasts. Recognition is essential for cytogenetic diagnosis. We describe a male aged 2 years 6 months and a female aged 11 years with PKS and epileptic spasms (ES). This type of seizure is not unusual in patients with brain malformations and with severe developmental delay, but it is sometimes difficult to recognize without video–electroencephalogram studies and could be mistaken for other types of seizure or behavioural manifestations. In these two patients with PKS, spasms had late onset, persisted beyond infancy, and were drug resistant. Clinicians should be aware of this possibility in PKS, which appears to be a rare cause of ES.

Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of Aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of Aicardi syndrome in a female aged 24 months. Magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.

The social model of disability and the new sociology of childhood emphasize respectively the relevance of the environment to participation and the importance of quality of life. Such ideas can be readily understood by and shared among parents, young disabled people, professionals, and planners. They also make clearer what professionals are trying to do when supporting disabled children and their families. This article discusses these concepts and shows how they must be expressed in quantitative terms if they are to influence research, planning, and clinical practice.

As yet, there is no aetiology-based intervention for autistic spectrum disorders (ASD); despite this, parents and professionals still need to make informed decisions regarding treatment options for children with ASD. This paper seeks to evaluate widely used interventions according to specific research criteria. Interventions presented are grouped into psychoeducational/behavioural approaches, psychopharmacological interventions, and the less traditional or complementary approaches. The conclusions are less than favourable: while some interventions do have empirical support, others have been proven to have no positive effects, and furthermore, there are no robust data favouring one approach over the others. Nevertheless, several criteria for choosing between treatment options are briefly discussed.

determining clinically whether or not a child with abnormal movements is having seizures is rarely easy. several non-epileptic causes of apparent seizures are well described, especially gastro-oesophageal reflux. stool withholding is very common in childhood, and can start very soon after birth. although it can cause major issues for the child and family, it is rarely considered by health care professionals to be more than a nuisance. a major feature of this is pain related to defaecation. further, in order to enhance withholding and thus prevent defaecation, a child may adopt positions and facial features that can mimic seizures. this paper presents four children (two males, two females) who presented, between the ages of 3 and 13 months, over a 2-year period to a general paediatric clinic (held in hospitals in watford and hemel hempstead, hertfordshire, uk). all received multiple investigations before accurate diagnosis. this highlights the fact that stool withholding should be added to the differential diagnosis of seizures in infancy.

Hashimoto's encephalopathy (HE) is a steroid responsive, relapsing encephalopathy associated with thyroid autoantibodies. Paediatric literature mainly consists of case reports of the disease. A questionnaire survey of 68 consultant paediatric neurologists was undertaken through the British Paediatric Neurology Association in 2002 to gather preliminary data about this condition. The response rate was 68% and a total of ten patients were identified: nine from the UK and one from Ireland. Complete clinical details were available on eight patients (seven females and one male). Age at presentation ranged from 10 to 15 years (mean 12y 7mo, SD 1y 1mo). Presenting features included seizures (n=7/8), encephalopathy (n=7/8), cognitive decline (n=4/8), behavioural problems (n=3/8), psychosis (n=2/8), myoclonus (n=1/8), and tremors (n=1/8). All had thyroid autoantibodies and four were also hypothyroid at diagnosis. One patient became hypothyroid during follow-up. Electroencephalograms (EEGs) showed high amplitude slow background rhythms in all patients, and one patient also had focal spikes. Cognitive deficits were identified in four patients and persisted in one over 2 years of follow-up. Six patients improved with steroids and two improved spontaneously. Two had relapsing courses during follow-up afer diagnosis (range 12–48 months). HE may be currently under-recognized in children and increased awareness can result in prompt diagnosis and treatment. Steroid therapy appears to be beneficial. Neuropsychological assessment is required in all cases and may guide steroid therapy. Long-term prognosis for cognition remains guarded at this time.

The special importance of acyl-CoA dehydrogenase deficiency is the possibility it offers for successful treatment. In view of this, the characteristics of the different varieties will first of all be described, and references given so that additional information can be obtained if needed.

The last time that the Academy meeting was scheduled to be in California was 2001 and for obvious reasons effectively did not take place. Hence, the Los Angeles venue was interposed for the recent meeting held in September 2004 and we were welcomed to Hollywood in inimitable style.