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ObjectiveNeurodevelopmental problems (NPs) are childhood phenotypes that are more common in males. Conversely, anxiety and depression (which are frequently comorbid with NPs) are more common in females. Rare copy number variants (CNVs) have been implicated in clinically-defined NPs. Here, we aimed to characterise the relationship between rare CNVs with NPs and anxiety/depression in a population sample of twin children. Additionally, we examined whether sex-specific CNV effects underlie the sex bias of these disorders.MethodWe analysed a sample of N=12,982 children, of whom 5.3% had narrowly-defined NPs (clinically-diagnosed), 20.9% had broadly-defined NPs (based on validated screening measures, but no diagnosis) and 3.0% had clinically-diagnosed anxiety or depression. Rare (500kb), type (duplication or deletion) and putative relevance to NPs (affecting previously implicated loci or evolutionarily-constrained genes). We tested for associations between the different CNV categories with NPs and anxiety/depression, followed by examination of sex-specific effects.ResultsMedium deletions (OR(CI)=1.18(1.05-1.33),p=0.0053) and large duplications (OR(CI)=1.45(1.19-1.75),p=0.00017) were associated with broadly-defined NPs. Large deletions (OR(CI)=1.85(1.14-3.01),p=0.013) were associated with narrowly-defined NPs. The effect sizes increased for large NP-relevant CNVs (broadly-defined: OR(CI)=1.60(1.06-2.42),p=0.025; narrowly-defined: OR(CI)=3.64(2.16-6.13),p=1.2E-6). No sex differences in CNV burden were found in individuals with NPs (p>0.05). In individuals diagnosed with anxiety or depression, females were more likely to have large CNVs (OR(CI)=3.75(1.45-9.68),p=0.0064).ConclusionRare CNVs are significantly associated with both narrowly- and broadly-defined NPs in a general population sample of children. Our results also suggest that large, rare CNVs may show sex-specific phenotypic effects.

Background ADHD is a highly heritable disorder, marked by elevated levels of comorbidity across neurodevelopmental and externalizing conditions. Polygenic risk scores (PRS) for ADHD have previously been shown to predict ADHD clinical case status and ADHD traits in the general population (Martin, Hamshere, Stergiakouli, O'Donovan, & Thapar, 2014; Stergiakouli et al., 2015). However, it is still unknown to what extent these genetic risk variants are disorder specific, and how they may influence neurodevelopmental and externalizing traits associated with ADHD. Methods ADHD PRS were calculated using results from the latest iPSYCH/Psychiatric Genomics Consortium ADHD Genome-Wide Association (GWAS) meta-analysis for 13,471 children from the Child and Adolescent Twin Study in Sweden (CATSS). For replication, ADHD PRS were also calculated from the EAGLE consortia GWAS meta-analyses of ADHD traits. Phenotypes in CATSS were measured via parent-ratings using the Autism-Tics, ADHD, and Other Comorbidities inventory. To estimate the associations between ADHD PRS and neurodevelopmental and externalizing traits, we used confirmatory factor analysis to fit a correlated factors model to the symptoms of trait inattention, impulsivity, autism, learning difficulties, oppositional-defiant and conduct problems. Each latent trait factor was then regressed on ADHD PRS in a structural equation modelling framework. In the second model, we included a latent general psychopathology factor to account for phenotypic associations among the traits. In this model, each item loaded on the latent general factor, in addition to the corresponding latent trait factor described above. Analyses were re-run using the EAGLE ADHD PRS. Results ADHD PRS were significantly associated with elevated levels of trait inattention, impulsivity, autism, learning difficulties, oppositional-defiant and conduct problems. However, only unique associations with impulsivity and conduct problems remained after accounting for cross-trait covariance via a latent general psychopathology factor, on which all symptoms loaded positively (loadings=.31–.91, S.E.=.004–.028). ADHD PRS explained 1% (β =.10, p Discussion Our results suggest that common genetic variants associated with clinically diagnosed ADHD have pleiotropic effects on neurodevelopmental and externalizing traits in the general population. These associations appear to be largely non-specific and reflect a general liability towards elevated childhood neurodevelopmental traits. Nonetheless, over and above predicting a general psychopathology factor, the ADHD PRS also seemed to capture genetic risk variants with unique effects on childhood externalizing traits of impulsivity and conduct problems.

198 Background: The Institute of Medicine (IOM) 2013 Report recommends that supportive oncology care start at cancer diagnosis; the Commission on Cancer (CoC) Standard 3.2 requires distress screening and indicated action. The Supportive Oncology Collaborative, collaborative of 100+ clinicians funded by The Coleman Foundation, developed a patient-centric screening tool (CSOC-ST) adapted from ASCO Distress, NCCN Distress Problem List, IOM report and CoC standards, and other validated sub-tools (Weldon, ASCO-Q 2017). The Collaborative revised the CSOC-ST tool to align with ASCO geriatric guidelines. Methods: Literature and guidelines review of geriatric screening, added items to CSOC-ST, and piloted at 4 sites. Descriptive statistics and Fisher’s exact test used. Results: 473 patients screened with added geriatric relevant items to CSOC-ST: self-care concerns (PROMIS Instrumental Support), living alone (ASCO Distress 2014), and memory / cognition (PROMIS item bank). Treatment/care concern items were revised to identify health care power of attorney and advance directive interest. Geriatric related items endorsed by patients, see Table. PHQ4, Anxiety and Depression, average score 2.4 (mild > 3). Higher scores on the PHQ-4 were significantly associated with each of the following: self-care concerns, memory/cognition concerns and specific treatment/care concerns (p < .0001). Conclusions: Pilot results and comparison to ASCO geriatric guidelines identified important items to support geriatric patient reported outcomes screening. After pilot, added 3 items for falls/frailty. Eight sites implementing this CSOC-ST.[Table: see text]

59 Background: A challenge in supportive oncology is training the HCP workforce. The Coleman Supportive Oncology Collaborative clinicians (faculty) from 25 institutions (academic, community & safety net) developed a unique and easily accessible supportive oncology training curriculum (Trosman JR JNCCN 2017). Methods: Using data provided by The National Comprehensive Cancer Network (NCCN) Continuing Education team, we evaluated completion rates of survivorship and supportive oncology education courses using simple frequencies. Results: Over 4748 on-line courses were completed (pretest, course, post-test, evaluation) of 7184 accessed. Of 4748 courses, nurses completed 45%, physicians 17%, advance practice clinicians 16%, and others 22% (social workers, chaplains, MAs). Course completion improved from 65% to 69% after articles describing collaborative work were published in Cure and Oncology Nursing News, p = 0.0014. Conclusions: A variety of HCPs successfully completed supportive oncology guideline education via the NCCN’s education portal. These on-line courses are an efficient way to train HCPs in supportive oncology. Curriculum advertising improves course completion.[Table: see text]

19 Background: A challenge in supportive oncology, integral to patient care, is training the health professional workforce. A collaborative funded by The Coleman Foundation of 30+ clinicians (faculty) from 25 institutions (academic, community & safety net) developed a unique fundamental survivorship care (Weldon JCO 2017) and supportive oncology training curriculum (Trosman JNCCN 2017). Methods: Using data from The National Comprehensive Cancer Network Continuing Education team, we analyzed utilization of survivorship and supportive oncology education courses using simple frequencies. Results: Over 3200 courses were completed (pretest, course, post-test, evaluation) and 4850 accessed. Nurses completed 56%, physicians 15%, social workers/psychologists/support staff 14%, advance practice clinicians 8%, and various roles for the rest. Courses in table. Conclusions: NCCN’s education portal achieved strong utilization from a variety of healthcare professionals in these courses. The Coleman Supportive Oncology Collaborative supports improvement in supportive care with tools, processes and training and will continue to update/offer courses through this portal.[Table: see text]

Martin surveys the few tantalizing references to the existence of MSS of the Confessio Amantis in Scotland before 1600. From them she infers that Gower's poetry was known and "was regarded as appropriate reading matter, or at least a fashionable addition to the library, for the intellectual elite, and the landed but also urban classes of late medieval and early modern Scotland" (563). The bulk of her essay, however, is concerned with tracing the influence of the CA in three Scottish works, each of which use it in a different but equally informed way. The anonymous prose "Spectacle of Luf" (1492) is framed as a dialogue between an old knight and his son on the dangers of the latter's subjection to love. The lessons, with their accompanying exempla, are divided into eight sections. The epilogue contains several detailed recollections of the ending of the Confessio. As the aged narrator abandons the didactic role of the main body of the poem, moreover, the ending recalls some of the ambivalences of Gower's conclusion and even "confronts the uncomfortable prospect considered by Gower . . . that maturity does not always bring a natural release form moral waywardness" (567). The reactions of the younger man to his father's lessons also recalls the stubborn persistence in love of Gower's Amans. Both works "therefore ultimately question the usefulness of the advisory genres to which they belong, foregrounding the power of readers to deflect the instructional intentions of authors in pursuit of validation of their own desires" (569), and they also draw a link between a lack self-governance in the ruler or ruling class and the resultant dangers of social disorder. Gavin Douglas' "Palice of Honour" (c. 1501) actually mentions Gower (in the company of Chaauer and Lydgate) by name. In part 1, the narrator's encounter with Venus contains recollections both of the opening of the CA and of Gower's "Tale of Rosiphelee." Like Gower, Douglas portrays his narrator "as one drawn perilously to the attractions of Venus's court, yet highly unsuitable for it, and unwelcome to its deity" (572), though the result is the narrator's rejection of love rather than a supplication for Venus's aid. And the narrator's second encounter with Venus, in part 3, recalls the conclusion to Gower's poem. "In both Confessio Amantis and The Palice of Honour, . . . the narrators are urged to use their literary skills in more fitting ways than writing about erotic love, in the service, respectively, of moral virtue and virtuous honour" (574). John Rolland's "Court of Venus" (c. 1560) also cites Gower by name, invoking him as an authority on how to avoid the dangers of subjection to Venus. It also imitates Gower in its conclusion, as the elderly narrator is expelled from Venus's court, but like "The Spectacle of Luf," it "returns to the problematic implications of the close of the Confessio Amantis" (576) that stories like those told by Genius "rarely succeed in convincing lovers to reform themselves," and it "leaves the reader with the problematic image of the poet-narrator as the reluctant outcast from Venus's court rather than the source of moral and ethical exemplarity" (576). Each of these three works also draws from other authors and "do not constitute a tradition," but as Martin notes in her conclusion, "they do give a clear indication of a Scottish habit of reading the Confessio Amantis that does not have an exact equivalent in contemporary English literature" (577). [PN. Copyright. The John Gower Society. JGN 29.2]

NIH The XXII World Congress of Psychiatric Genetics, sponsored by the International Society of Psychiatric Genetics, took place in Copenhagen, Denmark, on 12-16 October 2014. A total of 883 participants gathered to discuss the latest findings in the field. The following report was written by student and postdoctoral attendees. Each was assigned one or more sessions as a rapporteur. This manuscript represents topics covered in most, but not all of the oral presentations during the conference, and contains some of the major notable new findings reported. (c) 2016 Wolters Kluwer Health, Inc. All rights reserved. Univ Oslo, Oslo Univ Hosp, NORMENT, Oslo, Norway Harvard Univ, Massachusetts Gen Hosp, Sch Med, Ctr Human Genet Res,Dept Psychiat,Psychiat & Neur, Boston, MA USA BroInst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA Harvard Univ, Sch Med, Brockton VA Boston Healthcare Syst, Brockton, MA 02401 USA Texas Tech Univ, Hlth Sci Ctr, Ctr Excellence Neurosci, El Paso, TX USA Virginia Inst Psychiat & Behav Genet, Richmond, VA USA Inst Psychiat Res, Neurosci Res Bldg,320 W 15th St, Indianapolis, IN 46202 USA Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Inst Psychol Med & Clin Neurosci, Cardiff CF10 3AX, S Glam, Wales Univ Edinburgh, Royal Edinburgh Hosp, Sch Clin Sci, Div Psychiat, Edinburgh, Midlothian, Scotland Wellcome Trust Sanger Inst, Hinxton, England UCL, Div Psychiat, London WC1E 6BT, England UCL, Div Psychiat, Mol Psychiat Lab, London WC1E 6BT, England UCL, Inst Psychiat, MRC Social Genet & Dev Psychiat Ctr, London WC1E 6BT, England Univ Hong Kong, Dept Psychiat, Hong Kong, Hong Kong, Peoples R China H Lundbeck & Co AS, Dept Synapt Transmiss, Valby, Denmark Univ Wurzburg, Dept Psychiat, Div Mol Psychiat, Wurzburg, Germany Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60054 Frankfurt, Germany Natl Inst Mental Hlth & NeuroSci, Bangalore, Karnataka, India Univ Stellenbosch, Fac Med & Hlth Sci, SA MRC Ctr TB Res,div Mol Biol & Human Genet, DST NRF Ctr Excellence Biomed TB Res,Dept Psychia, Cape Town, South Africa Univ Helsinki, Fac Biol & Environm Sci, Dept Biosci, Helsinki, Finland Semmelweis Univ, Inst Med Chem Mol Biol & Pathobiochem, H-1085 Budapest, Hungary Univ Cagliari, Dept Biomed Sci, Sect Neurosci & Clin Pharmacol, Monserrato, Italy Univ Fed Sao Paulo, Dept Morphol & Genet, Sao Paulo, Brazil Neurosci Res Australia, Barker St Randwick, Sydney, NSW, Australia Karolinska Inst, Dept Med Epidemiol & Biostat, Solna, Sweden Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Univ Fed Sao Paulo, Dept Morphol & Genet, Sao Paulo, Brazil NIH: R13AA017055 Web of Science

Contains fulltext : 168025pub.pdf (Publisher’s version ) (Closed access) Despite a wealth of evidence for the role of genetics in attention deficit hyperactivity disorder (ADHD), specific and definitive genetic mechanisms have not been identified. Pathway analyses, a subset of gene-set analyses, extend the knowledge gained from genome-wide association studies (GWAS) by providing functional context for genetic associations. However, there are numerous methods for association testing of gene sets and no real consensus regarding the best approach. The present study applied six pathway analysis methods to identify pathways associated with ADHD in two GWAS datasets from the Psychiatric Genomics Consortium. Methods that utilize genotypes to model pathway-level effects identified more replicable pathway associations than methods using summary statistics. In addition, pathways implicated by more than one method were significantly more likely to replicate. A number of brain-relevant pathways, such as RhoA signaling, glycosaminoglycan biosynthesis, fibroblast growth factor receptor activity, and pathways containing potassium channel genes, were nominally significant by multiple methods in both datasets. These results support previous hypotheses about the role of regulation of neurotransmitter release, neurite outgrowth and axon guidance in contributing to the ADHD phenotype and suggest the value of cross-method convergence in evaluating pathway analysis results. (c) 2016 Wiley Periodicals, Inc.

Ane Satyre of the Thrie Estaitis is the only extant play by the prolific poet Sir David Lyndsay of the Mount, and the only surviving dramatic text from pre-Reformation Scotland. Acknowledged to be controversial in its own time, the play was devised in c.1540, and reworked for performances in Cupar and Edinburgh in the 1550s. Its composition thus spans a particularly troubled period in Scottish history, and in its action Lyndsay examines the possibilities of political and religious reform with great contemporaneity. The play also explores the meta-theatrical question of the ability of dramatic performance to facilitate social and governmental reform, and the capacity of theatre to influence the personal ethics of its audience. In order to explore these theatrical and moral issues Lyndsay creates a rich and sophisticated drama which draws on the tradition of the medieval morality play, contemporary European dramatic forms and his native Scots literary tradition.

OBJECTIVE. Infant sleep problems are strongly associated with poorer maternal mental health. It is not known whether they are also associated with poorer paternal mental health, nor whether sleep problems in older children are associated with maternal or paternal mental health. We aimed to examine relationships between child sleep problems and maternal and paternal mental health and general well-being in each of the infant and preschool-aged groups. METHODS. Participants of this cross-sectional survey included families of infants (n = 5107) and preschool-aged children (n = 4983) participating in the first wave of the nationally representative Longitudinal Study of Australian Children, surveyed March through November 2004. The primary outcomes were mother and father serious psychological distress (measured by the Kessler-6) and general health (parent report of general health taken from the 12-item Short Form Health Survey and dichotomized into poor versus good health). A primary caregiver's report of the child's sleep problem was dichotomized into moderate/severe versus none/mild. RESULTS. The prevalence of severe psychological distress ranged from 3% to 5%, and prevalence of poor general health ranged from 8% to 11%. Moderate to severe sleep problems affected 17% of infants and 14% of preschool-aged children. Infant sleep problems were associated with poor general health in mothers and with poor general health in fathers. Preschool sleep problems were associated with poor maternal general health. In mothers with no past history of depression, infant sleep problems had a greater effect on severe psychological distress compared with mothers with a past history of depression. CONCLUSIONS. Sleep problems are common in infants and preschool-aged children. Infant sleep problems, in particular, are associated with poorer health in both parents, especially the mental health of mothers with no past history of depression.

150 Background: The Institute of Medicine (IOM) and Commission on Cancer (CoC) recommend systematic delivery of supportive oncology and survivorship care to all cancer patients. CSOC aims to improve the quality of supportive care across Chicago-area providers. Methods: 35 CSOC participating institutions (cancer centers, support centers, hospice) formed care delivery design teams - Distress, Survivorship and Palliative. Teams collaboratively developed solutions to supportive oncology gaps: patient screening tools, care delivery processes, provider training, and quality metrics to assess supportive oncology quality and the CSOC impact. Six implementation centers (2 safety-net, 3 academic & 1 public) reviewed charts at baseline (2014 diagnoses) and after the initial implementation period (2015 diagnoses), compared by frequencies and Fisher’s exact test. Results: Eight metrics contained patient data at 2 time points; improvements were seen in 7/8 metrics. (See Table). Conclusions: CSOC developed supportive oncology screening, and care processes aligned with IOM and CoC standards. Significant improvements were shown after implementation across diverse settings. Ongoing work will further evaluate the impact of CSOC efforts on patient care. [Table: see text]

61 Background: The Institute of Medicine (IOM) 2013 Report recommends that supportive oncology care start at cancer diagnosis; the Commission on Cancer (CoC) Standard 3.2 requires distress screening and indicated action. Screening tools are not standardized and often address only a portion of patients’ supportive oncology needs. Methods: A collaborative of 100+ clinicians, funded by The Coleman Foundation, developed a patient-centric screening tool adapted from NCCN Distress Problem List, IOM report and CoC standards, with validated sub-tools: PHQ-4 for anxiety and depression and PROMIS short forms for pain, fatigue and physical function. Novel treatment/care and other concerns were included. The screening tool was implemented at 4 cancer centers (2 academic, 1 public & 1 safety-net). End points included correlation of PHQ-4 score with other supportive oncology needs. Descriptive statistics, Fisher’s exact test were used. Results: 2805 patients were screened. Average scores were: PHQ4 – Anxiety and Depression 1.8 (mild > 3), Pain 4.5 (mild > 4), Fatigue 8.8 (mild > 6), Physical Function 20.2 (mild < 20), see table for additional items. Higher scores on the PHQ-4 were significantly associated with each of the following: greater pain, fatigue, , nutritional and specific treatment/care concerns, and lower physical function (p

Objective Twin studies and genome-wide complex trait analysis (GCTA) are not in agreement regarding heritability estimates for behavioral traits in children from the general population. This has sparked a debate on the possible difference in genetic architecture between behavioral traits and psychiatric disorders. In this study, we test whether polygenic risk scores associated with variation in attention-deficit/hyperactivity disorder (ADHD) trait levels in children from the general population predict ADHD diagnostic status and severity in an independent clinical sample. Method Single nucleotide polymorphisms (SNPs) with p < .5 from a genome-wide association study of ADHD traits in 4,546 children (mean age, 7 years 7 months) from the Avon Longitudinal Study of Parents and Children (ALSPAC; general population sample) were selected to calculate polygenic risk scores in 508 children with an ADHD diagnosis (independent clinical sample) and 5,081 control participants. Polygenic scores were tested for association with case-control status and severity of disorder in the clinical sample. Results Increased polygenic score for ADHD traits predicted ADHD case-control status (odds ratio = 1.17 [95% CI = 1.08–1.28], p = .0003), higher ADHD symptom severity (β = 0.29 [95% CI = 0.04–0.54], p = 0.02), and symptom domain severity in the clinical sample. Conclusion This study highlights the relevance of additive genetic variance in ADHD, and provides evidence that shared genetic factors contribute to both behavioral traits in the general population and psychiatric disorders at least in the case of ADHD.

Background The genetic architecture of ADHD is complex, with rare and common variants involved. Common genetic variants (as indexed by a composite risk score) associated with clinical ADHD significantly predict ADHD and autistic-like behavioural traits in children from the general population, suggesting that ADHD lies at the extreme of normal trait variation. ADHD and other neurodevelopmental disorders share neurocognitive difficulties in several domains (e.g. impaired cognitive ability and executive functions). We hypothesised that ADHD composite genetic risk scores derived from clinical ADHD cases would also contribute to variation in neurocognitive abilities in the general population. Methods Children (N = 6,832) from a UK population cohort, the Avon Longitudinal Study of Parents and Children (ALSPAC), underwent neurocognitive testing. Parent-reported measures of their children's ADHD and autistic-like traits were used to construct a behavioural latent variable of ‘neurodevelopmental traits’. Composite genetic risk scores for ADHD were calculated for ALSPAC children based on findings from an independent ADHD case–control genome-wide association study. Structural equation modelling was used to assess associations between ADHD composite genetic risk scores and IQ, working memory, inhibitory control and facial emotion recognition, as well as the latent ‘neurodevelopmental trait’ measure. Results The results confirmed that neurocognitive and neurodevelopmental traits are correlated in children in the general population. Composite genetic risk scores for ADHD were independently associated with lower IQ (β = −.05, p .05). Conclusions These findings suggest that common genetic variants relevant to clinically diagnosed ADHD have pleiotropic effects on neurocognitive traits as well as behavioural dimensions in the general population. This further suggests that the well-recognised association between cognition and neurodevelopmental behavioural traits is underpinned at a biological level.

Attitudes to the English expressed by Scottish chroniclers from the late fourteenth to the late sixteenth centuries, and by the authors of historical narrative poems that deal with the formation of national identity and major conflicts between England and Scotland, such as The Wallace and The Bruce, are well documented and often discussed.1 Similarly, the opposite of this literary manifestation of political tension and enmity, the demonstrable interest in and engagement with English literature among Scottish writers, has been explored extensively by scholars. As Priscilla Bawcutt, Alasdair MacDonald, and others have shown,2 the troubled political border between England and Scotland in the late medieval and early modern period did not also form a barrier to the circulation of English manuscripts and printed books in Scotland or hinder the emergence of sophisticated imaginative responses to the works of English writers in those of their Scottish counterparts.3 The major manuscript anthologies of the period, such as Oxford Bodleian Library MS Arch. Seiden B. 24, the Asloan Manuscript, the Bannatyne Manuscript, and the Maitland Folio Manuscript, all contain works of English origin, and there is evidence that prints from Caxton’s press circulated in Scotland at an early date.4 Furthermore, some Scottish texts were also known in England, and works by Robert Henryson and the Scottish Observant Friar, William of Touris, for example, were first printed in London.5

Objective:\ud To determine whether children with attention deficit hyperactivity disorder (ADHD) and mild intellectual disability (ID) are a clinically distinct ADHD subgroup.\ud \ud Study design:\ud This was a cross-sectional study comparing clinical characteristics (ADHD subtypes, total number of symptoms, and rates of common comorbidities) between children with ADHD and mild ID and those with ADHD and IQ test scores >70, and also between children with ADHD and ID and a general population sample of children with ID alone. The sample comprised a clinical sample of children with ADHD with ID (n = 97) and without ID (n = 874) and a general population sample of children with ID and without ADHD (n = 58).\ud \ud Results:\ud After correcting for multiple statistical tests, no differences were found between the 2 ADHD groups on any measure except the presence of conduct disorder (CD) symptoms and diagnoses. Children with ADHD and ID had higher rates of both (OR, 2.38; 95% CI, 1.71-3.32 and OR, 2.69; 95% CI, 1.69-4.28, respectively). Furthermore, children with ADHD and ID had significantly higher rates of oppositional defiant disorder (OR, 5.54; 95% CI, 2.86-10.75) and CD (OR, 13.66; 95% CI, 3.25-57.42) symptoms and a higher incidence of oppositional defiant disorder diagnoses (OR, 30.99; 95% CI, 6.38-150.39) compared with children with ID without ADHD.\ud \ud Conclusion:\ud Children with ADHD and mild ID appear to be clinically typical of children with ADHD except for more conduct problems. This finding has implications for clinicians treating these children in terms of acknowledging the presence and impact of ADHD symptoms above and beyond ID and dealing with a comorbid CD.

BackgroundSubmicroscopic, rare chromosomal copy number variants (CNVs) contribute to neurodevelopmental disorders but it is not known whether they define atypical clinical cases.AimsTo identify whether large, rare CNVs in attention-deficit hyperactivity disorder (ADHD) are confined to a distinct clinical subgroup.MethodA total of 567 children with ADHD aged 5–17 years were recruited from community clinics. Psychopathology was assessed using the Child and Adolescent Psychiatric Assessment. Large, rare CNVs (>500 kb, ResultsCopy number variant carriers (13.6%) showed no differences from non-carriers in ADHD symptom severity, symptom type, comorbidity, developmental features, family history or pre-/ perinatal markers. The only significant difference was a higher rate of intellectual disability (24% v. 9%, χ2 = 15.5, P = 0.001). Most CNV carriers did not have intellectual disability.ConclusionsLarge, rare CNVs are not restricted to an atypical form of ADHD but may be more highly enriched in children with cognitive problems.

Terminal deletions on the X chromosome in female patients may be detected as part of a work up for infertility, premature ovarian insufficiency (POI) or in screening for fragile X carrier status. We present the clinical, cytogenetic and molecular features of four patients with terminal deletions of chromosome X that include the FMR1 gene, and discuss biological and genetic implications of this deletion. Providers should be aware of possible identification of Xq27 deletions as a potential outcome of fragile X screening. © 2011 Wiley-Liss, Inc.

Traits of autistic spectrum disorders (ASD) occur frequently in attention deficit hyperactivity disorder (ADHD), but the significance of their presence in terms of phenotype and underlying neurobiology is not properly understood. This analysis aimed to determine whether higher levels of autistic traits, as measured by the Social Communication Questionnaire (SCQ), index a more severe presentation in a large, rigorously phenotyped sample of children with ADHD (N = 711). Regression analyses were used to examine association of SCQ scores with core ADHD features, clinical comorbidities and cognitive and developmental features, with adjustment for putative confounders. For outcomes showing association with total SCQ score, secondary analyses determined levels of differential association of the three ASD sub-domains. Results suggest that increasing ASD symptomatology within ADHD is associated with a more severe phenotype in terms of oppositional, conduct and anxiety symptoms, lower full-scale IQ, working memory deficits and general motor problems. These associations persisted after accounting for ADHD severity, suggesting that autistic symptomatology independently indexes the severity of comorbid impairments in the context of ADHD. Sub-domain scores did not show unique contributions to most outcomes, except that social deficits were independently associated with oppositional symptoms and repetitive behaviours independently predicted hyperactive-impulsive symptoms and motor problems. It would be worthwhile for clinicians to consider levels of socio-communicative and repetitive traits in those with ADHD who do not meet diagnostic criteria for ASD, as they index higher levels of phenotypic complexity, which may have implications for efficacy of interventions. Electronic supplementary material The online version of this article (doi:10.1007/s00787-013-0398-6) contains supplementary material, which is available to authorized users.

Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) often co-occur. Factor analyses of ASD traits in children with and without ASD indicate the presence of social and restrictive–repetitive behaviour (RRB) factors. This study used exploratory factor analyses to determine the structure of ASD traits (assessed using the Social Communication Questionnaire) in children with ADHD. Distinct factors were observed for ‘social’ and ‘rigidity’ traits, corresponding to previous factor analyses in clinical ASD and population samples. This indicates that the split between social-communicative and RRB dimensions is unaffected by ADHD in children. Moreover, the study also finds that there is some overlap across hyperactive-impulsive symptoms and RRB traits in children with ADHD, which merits further investigation.

Field collections of Chironomus oppositus from certain localities in Tasmania, in particular from Bellerive, consistently show distributions of inversions different to those found in the normal form, which is referred to as form A and occurs in mainland Australia and most other Tasmanian populations. These collections showed: (1) a marked deficiency of almost all inversion heterozygotes; (2) significant groups of associated sequences which can be used to define two additional forms, referred to as form B and form C. Since forms B and C have so far only been found together, it would appear that this represents an unusual situation in insect speciation. This karyotypic divergence must be maintained by some restriction on interbreeding, both between these two groups and also between them and form A, with which they appear to coexist in some localities.