A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder.

Recent case-control genetic studies of attention deficit hyperactivity disorder (ADHD) have implicated common and rare genetic risk alleles, highlighting the polygenic and complex aetiology of this neurodevelopmental disorder. Studies of other neurodevelopmental disorders, such as autism spectrum disorder (ASD), Tourette disorder, developmental delay/intellectual disability and schizophrenia indicate that identification of specific risk alleles and additional insights into disorder biology can be gained by studying non-inherited de novo variation. In this study, we aimed to identify large de novo copy number variants (CNVs) in children with ADHD.

(Z,Z)-6,9-Heneicosadien-11-one: major sex pheromone component of painted apple moth, Teia anartoides.

(Z,Z)-6,9-Heneicosadien-11-one (Z6Z9-11-one-21Hy) was identified as the major sex pheromone component of the painted apple moth (PAM), Teia anartoides (Lepidoptera: Lymantriidae), on the basis of (1) comparative gas chromatographic-electroantennographic detection (GC-EAD) analyses, GC-mass spectrometry (MS), high-performance liquid chromatography (HPLC)-MS, and HPLC-UV/visible spectroscopy of pheromone gland extracts and authentic standards; (2) GC-EAD analyses of effluvia of calling females; and (3) wind tunnel and field trapping experiments with a synthetic standard. In field experiments in Australia, synthetic Z6Z9-11-one-21Hy as a single component attracted male moths. Wind tunnel experiments suggested that a 4-component blend consisting of Z6Z9-11-one-21Hy, (6Z,9R,10S)-cis-9,10-epoxy-heneicosene (Z6-9R10S-epo-21 Hy), (E,E)-7,9-heneicosadien-6, 11-dione (E7E9-6,11-dione-21Hy), and 6-hydroxy-(E,E)-7,9-heneicosadien-11-one (E7E9-6-ol-11-one-21Hy) (all present in pheromone gland extracts) might induce more males to orient toward, approach, and contact the source than did Z6Z9-11-one-21Hy as a single component.

Management of toxic epidermal necrolysis in a 15-year-old girl.

Toxic epidermal necrolysis, a life-threatening reaction to certain types of drugs, is characterised by epidermal sloughing of more than 30% of the total body surface area. Patient survival depends on prompt referral to a specialist burns unit.

Epilepsy--giving the diagnosis. A survey of British paediatric neurologists.

Adult-centred studies continue to show poor information provision and understanding in people with epilepsy. This study explores whether paediatric neurologists work within a consultation framework designed to meet information needs. A questionnaire on how to give the diagnosis was sent to 32 UK Paediatric Neurologists.

Lamotrigine therapy in infantile neuronal ceroid lipofuscinosis (INCL).

Since 1990, altogether 16 INCL patients received lamotrigine (LTG) because of intractable epilepsy. The response to LTG was favorable in 15/16 children. The severity of seizures decreased significantly in 15/16 patients, the frequency of seizures decreased in 14/16, and the effects were maintained.

Lamotrigine for the treatment of epilepsy in childhood.

Objective: In this multicenter study, the efficacy and tolerability of lamotrigine were assessed in 285 children less than 13 years of age, recruited from 37 centers in 11 countries.

Methods: Pooled data from five open add-on studies have been analyzed. All the children had treatment-resistant epilepsy and most had two or more seizure types.

A multicentre comparative trial of sodium valproate and carbamazepine in paediatric epilepsy. The Paediatric EPITEG Collaborative Group.

The long-term efficacy and adverse-event profiles of sodium valproate and carbamazepine in children with newly diagnosed primary generalised or partial epilepsy were compared at 63 outpatient clinics. Children with two or more generalised tonic-clonic or partial seizures in the previous six months were randomised to oral sodium valproate (N = 130) or oral carbamazepine (N = 130) and followed for three years as outpatients. Dosages were increased as needed until seizures were controlled or toxicity developed.

Juvenile neuronal ceroid-lipofuscinosis: developmental progress after supplementation with polyunsaturated fatty acids.

Six patients with juvenile neuronal ceroid-lipofuscinosis (NCL) who were demonstrated to have abnormally low levels of membrane phospholipids were treated by dietary supplementation with polyunsaturated fatty acids (PUFAs) for periods ranging from 4 years 10 months to 7 years 3 months. Annual evaluations of intelligence and fine motor ability were undertaken while on supplementation. Mental development remained stable in most subjects throughout this period; fine motor function and vision were stable in the two youngest subjects only.

Decreased erythrocyte and platelet phospholipids and fatty acids in juvenile neuronal ceroid-lipofuscinosis (Batten disease).

Total cellular and phospholipid fatty acids were analyzed in erythrocytes and platelets from six patients with juvenile neuronal ceroid-lipofuscinosis (Spielmeyer-Vogt, Batten disease, JNCL). The results were compared to those of age-matched controls. The amounts of total fatty acid and the phospholipid classes, phosphatidylcholine (PC), phosphatidylethanolamine (PE), and phosphatidylserine (PS) were significantly decreased in patients when related to cellular protein.

Epilepsy in school children with intellectual impairments in Sheffield: the size and nature of the problem and the implications for service provision.

This study analyses the prevalence and nature of epilepsy in all children between the ages of 5 and 16 years of age in the City of Sheffield with mild, moderate or severe intellectual impairments. An overall figure of 18% was obtained with a range of 7% for those with mild to moderate intellectual impairments to 67% for those with severe intellectual impairments and a physical disability. The severity of the epilepsy similarly varied with the most severe being in those with severe intellectual impairments and physical disabilities.

Radiological screening for atlanto-axial instability in Down's syndrome.

Two hundred and twenty Down's sufferers of all ages in the Sheffield district had their cervical spine X-rayed as part of a screening programme to ascertain atlanto-axial instability. Fifteen patients (6.8%) had an abnormal predental distance with four (1.

Cerebral systemic lupus erythematosus.

Cerebral systemic lupus erythematosus is uncommon in childhood. Three further cases are presented to draw attention to the unusual and varied clinical manifestations of this condition.

Molybdenum co-factor deficiency: an easily missed inborn error of metabolism.

A female patient is described with combined deficiency of sulphite, zanthine and aldehyde oxidase. She presented at the age of four weeks with intractable seizures. Initially the diagnosis was suspected because of a very low serum urate level (23 mumol/1-1).

Therapeutic modification of membrane lipid abnormalities in juvenile neuronal ceroid-lipofuscinosis (Batten disease).

Five patients with juvenile neuronal ceroid-lipofuscinosis, who were shown to have absent or reduced serum prebetalipoprotein and a deficiency of polyunsaturated fatty acids in erythrocyte membrane lipids, were treated for a period of one year with supplements of fish oil extract (rich in omega-3 fatty acids) and encouraged to increase dietary intake of corn oil lipid (rich in omega-6 fatty acids) in an attempt to promote incorporation of these fatty acids into membranes. After one year there was a significant increase in omega-3 fatty acids (P less than 0.05) and in the total polyunsaturated fatty acids (P less than 0.

Causes of delay in the adequate treatment of childhood illness in India.

A retrospective study of children attending a government hospital in Bangalore was performed to assess the causes of delay in providing appropriate treatment. Delay had occurred in 59% of children with significant illness, and in over half the cases the primary cause of delay was inappropriate treatment or delayed referral by a doctor trained in Western-style medicine. It is concluded that there are a large number of ill children in Bangalore whose parents are seeking the help of such doctors but where management is at fault.

A biochemical study on mothers of children with congenital neurodevelopmental abnormalities.

A biochemical study has been undertaken on the mothers of children with a major neurodevelopmental disability, without known etiology (study group), and an appropriate control group. Two hundred seventy-four mothers were studied, 137 in each group. Social and environmental details were recorded in each of the two major groups.