Obstructive sleep apnoea-hypopnoea syndrome.

Obstructive sleep apnoea-hypopnoea syndrome (OSAHS) is a common disorder characterised by repetitive episodes of the complete or partial collapse of the pharyngeal airway during sleep. This results in cessation (apnoea) or reduction (hypopnoea) of airflow, leading to oxygen desaturation and sleep fragmentation. An individual's disposition to develop OSAHS depends on the collapsibility of a segment of the upper airway. The degree of collapsibility can be quantified by the balance between occluding or extraluminal pressures of the surrounding tissues. Patients can experience snoring, unrefreshing sleep, witnessed apnoeas, waking with a choking sensation and excessive daytime sleepiness. OSAHS has a broad range of consequences, including cardiovascular, metabolic, and neurocognitive sequelae. Treatment options include lifestyle measures, in particular weight loss, and strategies to maintain upper airway patency overnight, including continuous positive airway pressure, mandibular advancement devices and positional modifiers.

Comorbid anxiety and irritability symptoms and their association with cognitive functioning in children with ADHD.

Anxiety and irritability symptoms frequently co-occur in children with Attention-Deficit/Hyperactivity Disorder (ADHD). This study aims to investigate whether irritability and anxiety are uniquely associated with performance on measures of cognitive functioning in children with ADHD and whether these associations hold when accounting for confounding variables. Baseline data was used from a randomised controlled trial of cognitive behavioural therapy for anxiety in children with ADHD (N = 219, 8-13 years). Anxiety was assessed using the child- and parent-reported Spence Children's Anxiety Scale, while irritability was assessed using the parent-reported Affective Reactivity Index. Children completed the National Institutes of Health Toolbox - Cognition Battery. Higher symptoms of anxiety were uniquely associated with performance on the Dimensional Card Change Sort Test (ß = -2.75, confidence interval (CI) [-4.97, -.52], p = .02) and the List Sort Working Memory Test (ß = -2.57, CI [-4.43, -.70], p = .01), while higher symptoms of irritability were negatively associated with Picture Vocabulary Test (ß = -2.00, CI [-3.83, -.16], p = .03). These associations did not survive correction for multiple comparisons. There was little evidence of an association between anxiety or irritability symptoms and cognitive functioning. Frequent co-occurrence of anxiety and irritability suggests clinicians working with children with ADHD should assess co-morbid symptom profiles to inform the provision of optimum care.

A manually annotated Actinidia chinensis var. chinensis (kiwifruit) genome highlights the challenges associated with draft genomes and gene prediction in plants.

BACKGROUND: Most published genome sequences are drafts, and most are dominated by computational gene prediction. Draft genomes typically incorporate considerable sequence data that are not assigned to chromosomes, and predicted genes without quality confidence measures. The current Actinidia chinensis (kiwifruit) 'Hongyang' draft genome has 164 Mb of sequences unassigned to pseudo-chromosomes, and omissions have been identified in the gene models. RESULTS: A second genome of an A. chinensis (genotype Red5) was fully sequenced. This new sequence resulted in a 554.0 Mb assembly with all but 6 Mb assigned to pseudo-chromosomes. Pseudo-chromosomal comparisons showed a considerable number of translocation events have occurred following a whole genome duplication (WGD) event some consistent with centromeric Robertsonian-like translocations. RNA sequencing data from 12 tissues and ab initio analysis informed a genome-wide manual annotation, using the WebApollo tool. In total, 33,044 gene loci represented by 33,123 isoforms were identified, named and tagged for quality of evidential support. Of these 3114 (9.4%) were identical to a protein within 'Hongyang' The Kiwifruit Information Resource (KIR v2). Some proportion of the differences will be varietal polymorphisms. However, as most computationally predicted Red5 models required manual re-annotation this proportion is expected to be small. The quality of the new gene models was tested by fully sequencing 550 cloned 'Hort16A' cDNAs and comparing with the predicted protein models for Red5 and both the original 'Hongyang' assembly and the revised annotation from KIR v2. Only 48.9% and 63.5% of the cDNAs had a match with 90% identity or better to the original and revised 'Hongyang' annotation, respectively, compared with 90.9% to the Red5 models. CONCLUSIONS: Our study highlights the need to take a cautious approach to draft genomes and computationally predicted genes. Our use of the manual annotation tool WebApollo facilitated manual checking and correction of gene models enabling improvement of computational prediction. This utility was especially relevant for certain types of gene families such as the EXPANSIN like genes. Finally, this high quality gene set will supply the kiwifruit and general plant community with a new tool for genomics and other comparative analysis.

Autism: are mental health services failing children and parents?

Autism is not a menta illness but a neurodevelopmental disorder. However, the prevalence of mental health problems such as depression among children and young people with autism is high. One in 10 children and young people who use Child and Adolescent Mental Health Services (CAMHS) has autism. Recent research by The National Autistic Society (NAS) into the effectiveness of these services has revealed a serious lack of understanding and support, with some families reporting that they have had to wait for years to receive help. The research involved a survey of 455 parents of children and young people with autism, together with qualitative findings from parental and young people's focus groups, a survey of CAMHS professionals and visits to CAMHS sites. Responses from parents, young people and professionals indicated that CAMHS did not have the knowledge or the skills to identify or treat mental health problems in children with autism.This can have profound consequences for the health and well-being of the whole family. Autism is a complex disability that can make it harder to diagnose concomitant mental health problems. It is a condition that can make it more difficult for professionals to develop successful, trusting relationships with children, and requires services to be adapted to the individual child. Mainstream interventions and treatments, if unadjusted, will usually fail to improve the mental health of a child with autism and may even make things worse.This article explores how CAMHS services might better meet the needs of children with autism and their families, including improvements in the transition to adult mental health services. In June 2010 NAS launched You Need to Know, a campaign calling on the Government to give priority to improving CAMHS services for children with autism and to support loca areas in delivering the changes that families and front-line professionals are calling for.