ABBREVIATIONS 3Di-svDevelopmental, Diagnostic and Dimensional Interview -short version ASD Autistic spectrum disorder CBCL Child Behavior Checklist DMD Duchenne muscular dystrophy SCDC Social Communication Disorder Checklist AIM Duchenne muscular dystrophy (DMD) is associated with neuropsychiatric disorders. The aim of the study was to characterize the DMD neuropsychiatric profile fully and to explore underlying genotype/phenotype associations.METHOD One hundred and thirty males with DMD (mean age 9y 10mo, range 5-17y) in four European centres were included and completed IQ assessment and a neurodevelopmentalscreening questionnaire. Of these, 87 underwent comprehensive neuropsychiatric assessment using structured diagnostic interview and parent-reported questionnaires. RESULTSThe overall mean score on the neurodevelopmental questionnaire was significantly abnormal compared with the general population of children (p<0.001). On average, intelligence was below the population mean, with intellectual disability observed in 34 males (26%). Autistic spectrum disorder was identified in 18 (21%), hyperactivity in 21 (24%), and inattention in 38 (44%). Clinical levels of internalizing and externalizing problems were observed in 21 (24%) and 13 (15%) respectively. Over a third of males scored more than two measures of emotional, behavioural, or neurodevelopmental problems. Males with mutations at the 3 0 end of the DMD gene affecting all protein isoforms had higher rates of intellectual disability and clusters of symptoms.INTERPRETATION Males with DMD are at very high risk of neuropsychiatric disturbance, and this risk appears to increase with mutations at the 3 0 end of the gene. Patterns of symptom clusters suggest a DMD neuropsychiatric syndrome, which may require prompt evaluation and early intervention.Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder affecting one in 5000 live male births, which causes progressive muscle weakness leading to loss of ambulation in the mid-adolescent years. Affected males generally present in the first few years of life with motor symptoms and enlarged calves. However, neurodevelopmental disorders are increasingly recognized features and can be the initial presenting symptoms. 1,2 DMD occurs as a result of mutations in the dystrophin gene. The large dystrophin gene contains 79 exons plus seven promoters. These tightly regulated internal promoters generate a range of different protein isoforms, with diverse expression in tissues. Mutations in the 5 0 end of the gene (i.e. mutations from exons 1-31) only affect the three longest isoforms, Dp427M, Dp427C, and Dp427P, which are expressed in skeletal and cardiac muscles, in the neurons in the cortex, and in cerebellar Purkinje cells respectively. However, mutations progressively further along the gene affect increasingly more isoforms. Mutations between exons 31 and 44, in addition to disrupting expression of the long isoforms, will also disrupt Dp260 (expressed mostly in the retina); mutations between exons 4...

Group social skills interventions (GSSIs) are a commonly offered treatment for children with high functioning ASD. We critically evaluated GSSI randomised controlled trials for those aged 6–25 years. Our meta-analysis of outcomes emphasised internal validity, thus was restricted to trials that used the parent-report social responsiveness scale (SRS) or the social skills rating system (SSRS). Large positive effect sizes were found for the SRS total score, plus the social communication and restricted interests and repetitive behaviours subscales. The SSRS social skills subscale improved with moderate effect size. Moderator analysis of the SRS showed that GSSIs that include parent-groups, and are of greater duration or intensity, obtained larger effect sizes. We recommend future trials distinguish gains in children’s social knowledge from social performance.

Prevalence of autism spectrum disorders has increased over recent years, however, little is known about the identification and management of autism spectrum disorder in Africa. This report summarizes a workshop on autism spectrum disorder in Africa under the auspices of the International Child Neurology Association and the African Child Neurology Association through guided presentations and working group reports, focusing on identification, diagnosis, management, and community support. A total of 47 delegates participated from 14 African countries. Although there was a huge variability in services across the countries represented, numbers of specialists assessing and managing autism spectrum disorder was small relative to populations served. Strategies were proposed to improve identification, diagnosis, management and support delivery for individuals with autism spectrum disorder across Africa in these culturally diverse, low-resource settings. Emphasis on raising public awareness through community engagement and improving access to information and training in autism spectrum disorder. Special considerations for the cultural, linguistic, and socioeconomic factors within Africa are discussed.

The transition from primary to secondary education (hereafter ‘school transition’) is a major ecological shift that poses considerable social, emotional, academic and organisational challenges. It is commonly assumed that this school transition is especially difficult for children with autism spectrum disorder, but that idea is mainly based on anecdotal evidence and requires systematic investigation. We describe change and continuity for children with autism spectrum disorder (N = 28, mean age = 11.29 years, mean full-scale IQ = 87.86) transitioning in mainstream education from primary to secondary school. Levels of psychopathology, adaptive functioning and peer victimisation were measured by parent, self and teacher report in the last year of primary school, and again after one term of secondary school. At follow-up, all participants were still in their secondary school, and there was no evidence for a marked escalation of difficulties during the transition. Instead, we observed high levels of psychopathology and maladaption at baseline which persisted across the transition and were in some cases under-recognised. By parent report, levels of bullying fell from primary to secondary school. Future research should investigate factors, such as school characteristics, that influence the move to secondary education in autism spectrum disorder, to inform the development of interventions to promote successful school transition.

The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under certain conditions.