PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0.1% frequency) that might be relevant to CP. We also sequenced exomes of “CNV-positive” trios.ResultsWe detected de novo CNVs and/or sex chromosome abnormalities in 7/97 (7.2%) of probands, impacting important developmental genes such as GRIK2, LAMA1, DMD, PTPRM, and DIP2C. In 18/97 individuals (18.6%), rare inherited CNVs were found, affecting loci associated with known genomic disorders (17p12, 22q11.21) or involving genes linked to neurodevelopmental disorders.ConclusionWe found an increased rate of de novo CNVs in the hemiplegic CP subtype (7.2%) compared to controls (1%). This result is similar to that for an unselected CP group. Combined with rare inherited CNVs, the genomic data impacts the understanding of the potential etiology of hemiplegic CP in 23/97 (23.7%) of participants.

Background. The number of students with Attention Deficit/Hyperactivity Disorder (ADHD) enrolled in colleges and universities has increased markedly over the past few decades, giving rise to questions about how best to document symptoms and impairment in the post-secondary setting. The aim of the present study was to investigate the utility and psychometric properties of a widely-used rating scale for adults with ADHD, the Adult ADHD Self-Report Scale (ASRS-V1.1), in a sample of post-secondary students with ADHD.Methods. A total of 135 college students (mean age = 24, 42% males) with ADHD were recruited from Student Disability Services in post-secondary institutions. We compared informant responses on the ASRS administered via different modalities. First, students’ self-report was ascertained using the ASRS Screener administered via telephone interview, in which they were asked to provide real-life examples of behavior for each of the six items. Next, students self-reported symptoms on the 18-item paper version of the ASRS Symptom Checklist administered about 1–2 weeks later, and a collateral report using an online version of the 18-item ASRS Symptom Checklist. Students also completed self-report measures of everyday cognitive failure (CFQ) and executive functioning (BDEFS).Results. Results revealed moderate to good congruency between the 18-item ASRS-Self and ASRS-Collateral reports (correlation = .47), and between student self-report on the 6-item telephone-based and paper versions of the ASRS, with the paper version administered two weeks later (correlation = .66). The full ASRS self-report was related to impairment, such as in executive functioning (correlation = .63) and everyday cognitive failure (correlation = .74). Executive functioning was the only significant predictor of ASRS total scores.Discussion. Current findings suggest that the ASRS provides an easy-to-use, reliable, and cost-effective approach for gathering information about current symptoms of ADHD in college and university students. Collateral reports were moderately related to self-reports, although we note the difficulty in obtaining informant reports for this population. Use of a telephone interview to elicit behavioral descriptions for each item may be useful in future research that is required to specifically test the utility of the ASRS in, for example, documenting and confirming current reports of impairment due to ADHD symptoms and its positive and negative predictive power for diagnosis.

ObjectivesTo determine whether standard-length computerized training enhances working memory (WM), transfers to other cognitive domains and shows sustained effects, when controlling for motivation, engagement, and expectancy.Methods97 post-secondary students (59.8% female) aged 18–35 years with Attention-Deficit/Hyperactivity Disorder, were randomized into standard-length adaptive Cogmed WM training (CWMT; 45-min/session), a shortened-length adaptive version of CWMT (15 min/session) that controlled for motivation, engagement and expectancy of change, or into a no training group (waitlist-control group). All three groups received weekly telephone calls from trained coaches, who supervised the CWMT and were independent from the research team. All were evaluated before and 3 weeks post-training; those in the two CWMT groups were also assessed 3 months post-training. Untrained outcome measures of WM included the WAIS-IV Digit Span (auditory-verbal WM), CANTAB Spatial Span (visual-spatial WM) and WRAML Finger Windows (visual-spatial WM). Transfer-of-training effects included measures of short-term memory, cognitive speed, math and reading fluency, complex reasoning, and ADHD symptoms.ResultsPerformance on 5/7 criterion measures indicated that shortened-length CWMT conferred as much benefit on WM performance as did standard-length training, with both CWMT groups improving more than the waitlist-control group. Only 2 of these findings remained robust after correcting for multiple comparisons. Follow-up analyses revealed that post-training improvements on WM performance were maintained for at least three months. There was no evidence of any transfer effects but the standard-length group showed improvement in task-specific strategy use.ConclusionsThis study failed to find robust evidence of benefits of standard-length CWMT for improving WM in college students with ADHD and the overall pattern of findings raise questions about the specificity of training effects.Trial RegistrationClinicalTrials.gov NCT01657721

Objective To determine the impact of pre-pregnancy diabetes mellitus (D), obesity (O) and chronic hypertension (H) on preterm birth (PTB). Methods Retrospective population-based cohort study in Ontario, Canada between 2012-2016. Women who had a singleton livebirth or stillbirth at > 20 weeks gestation were included in the cohort. Exposures of interest were D, O and H, individually, and in various combinations. The primary outcome was PTB at 24 1/7 to 36 6/7 weeks. PTB was further analyzed by spontaneous or provider-initiated, early (< 34 weeks) or late (34-37 weeks), and the co-presence of preeclampsia, large for gestational age (LGA), and small for gestational age (SGA). Multivariable Poisson regression models with robust error variance were used to generate relative risks (RR), further adjusted for maternal age and parity (aRR). Population attributable fractions (PAF) were calculated for each of the outcomes by exposure state. Results 506,483 women were eligible for analysis. 30,139 pregnancies (6.0%) were complicated by PTB < 37 weeks, of which 7375 (24.5%) had D or O or H. Relative to women without D or O or H, the aRR for PTB < 37 weeks was higher for D (3.51; 95% CI 3.26-3.78) and H (3.81; 95% CI 3.55-4.10) than O (1.14; 95% CI 1.10-1.17). The combined state of DH was associated with a significantly higher aRR of PTB < 37 weeks (6.34; 95% CI 5.14-7.80) and < 34 weeks (aRR 10.33, 95% CI 6.96-15.33) than D alone. The risk of provider initiated PTB was generally higher than that for spontaneous PTB. Pre-pregnancy hypertension was