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ObjectiveThis is a prospective population screening study for autism in toddlers aged 18–30 months old using the Quantitative Checklist for Autism in Toddlers (Q-CHAT), with follow-up at age 4.DesignObservational study.SettingLuton, Bedfordshire and Cambridgeshire in the UK.Participants13 070 toddlers registered on the Child Health Surveillance Database between March 2008 and April 2009, with follow-up at age 4; 3770 (29%) were screened for autism at 18–30 months using the Q-CHAT and the Childhood Autism Spectrum Test (CAST) at follow-up at age 4.InterventionsA stratified sample across the Q-CHAT score distribution was invited for diagnostic assessment (phase 1). The 4-year follow-up included the CAST and the Checklist for Referral (CFR). All with CAST ≥15, phase 1 diagnostic assessment or with developmental concerns on the CFR were invited for diagnostic assessment (phase 2). Standardised diagnostic assessment at both time-points was conducted to establish the test accuracy of the Q-CHAT.Main outcome measuresConsensus diagnostic outcome at phase 1 and phase 2.ResultsAt phase 1, 3770 Q-CHATs were returned (29% response) and 121 undertook diagnostic assessment, of whom 11 met the criteria for autism. All 11 screened positive on the Q-CHAT. The positive predictive value (PPV) at a cut-point of 39 was 17% (95% CI 8% to 31%). At phase 2, 2005 of 3472 CASTs and CFRs were returned (58% response). 159 underwent diagnostic assessment, including 82 assessed in phase 1. All children meeting the criteria for autism identified via the Q-CHAT at phase 1 also met the criteria at phase 2. The PPV was 28% (95% CI 15% to 46%) after phase 1 and phase 2.ConclusionsThe Q-CHAT can be used at 18–30 months to identify autism and enable accelerated referral for diagnostic assessment. The low PPV suggests that for every true positive there would, however, be ~4–5 false positives. At follow-up, new cases were identified, illustrating the need for continued surveillance and rescreening at multiple time-points using developmentally sensitive instruments. Not all children who later receive a diagnosis of autism are detectable during the toddler period.

Background SHANK2 disorder is a rare neurodevelopmental disorder caused by a deletion or pathogenic sequence variant of the SHANK2 gene and is associated with autism spectrum disorder (ASD), intellectual disability (ID), and developmental delay. To date, research in SHANK2 has focused on laboratory-based in vivo and in vitro studies with few prospective clinical studies in humans. Methods A remote assessment battery was comprised of caregiver interviews with a psychiatrist, psychologists, and a genetic counselor, caregiver-reports, and review of records. Results from this cohort were reported using descriptive statistics. An age-matched sample of participants with SHANK3 haploinsufficiency (Phelan-McDermid syndrome, PMS) was used to compare adaptive behavior between the two groups. Results All ten participants demonstrated delays in adaptive behavior, with most motor skills preserved and a weakness in communication. According to parent report, 90% of participants carried a formal diagnosis of ASD, 50% of participants carried a diagnosis of attention-deficit/hyperactivity disorder (ADHD), and mild-to-moderate developmental delays were noted. Sensory hyperreactivity and seeking behaviors were more pronounced than sensory hyporeactivity. Medical features included hypotonia, recurrent ear infections, and gastrointestinal abnormalities. No similar facial dysmorphic features were observed. Compared to PMS participants, individuals with SHANK2 disorder had significantly higher adaptive functioning. Conclusions Consistent with previous studies of SHANK2 disorder, these results indicate mild to moderate developmental impairment. Overall, SHANK2 disorder is associated with developmental and adaptive functioning delays, high rates of autism, including sensory symptoms and repetitive behaviors, and ADHD. This study was limited by its remote nature, diverse age range, and the homogeneous racial and ethnic sample. Future studies should examine larger, diverse cohorts, add cognitive testing, capture longitudinal data, and include in-person assessments.

Background: Somatization is a factor in an individual's physical and psychological well-being (Craig, Cox, & Klein, 2002; Crane & Martin, 2004). Previous literature indicates an intergenerational transmission of somatization involving maternal modeling and reinforcement of illness behaviors (Marshall, Jones, Ramchandani, Stein, & Bass, 2007; Walker, Garber, & Greene, 1993). This study investigates the role of parent somatization, and the influence of parental modeling on child somatization, child vulnerability and asthma morbidity. The role of somatization was also examined in its relationship to symptom perception in asthmatic children. Methods: One hundred and thirteen pediatric asthma patients aged 7-15 and their primary caregivers were recruited from outpatient clinics in hospital settings in Bronx, New York. Primary caregivers completed the Patient Health Questionnaire-15 (PHQ-15), a self-report measure of somatization, the Child Vulnerability Scale (CVS), an 8-item measure of perceived vulnerability to medical illness in the child, and the Asthma Functional Severity Scale (AFSS) a measure of asthma-related functional morbidity in the past month. The Children's Somatization Inventory (CSI), a 35-item questionnaire that assesses children's nonspecific somatic complaints during the past two weeks, was completed by the parent (P-CSI) and the child (C-CSI). Families were trained on how to monitor their children's asthma symptom perception by use of an electronic peak flow meter (AM2), which they were given to use twice daily for 5 weeks. Data from this device were used to measure the child's asthma symptom perception. The symptom perception methodology involved comparisons between recorded lung function and lung function as estimated by the child. The Asthma Risk Grid was used to determine three categories: accurate perception, over perception or under perception. Results: After controlling for child gender, parents who reported higher somatization scores were more likely to report their children as having higher somatization scores [F (2, 110) = 17.50, p < .01]. Additionally, parents who reported higher somatization scores were significantly more likely to have children who self-reported higher somatization scores [F (2, 110) = 3.44, p < .05]. After controlling for child age, parents reporting higher somatization were more likely to perceive their children as more vulnerable to medical illness [F (2, 111) = 7.28, p < .01]. Greater parental somatization scores were also significantly related to higher levels of functional asthma morbidity [F (2, 110) = 7.82, p < .01]. No between group differences were found in child somatization (parent and child report) according to ethnicity [F (2, 107) = 1.17, p = .32]. Parent somatization scores were not predictive of children's asthma symptom perception and there were no between group differences on symptom perception according to ethnicity. Conclusion: Parent somatization was strongly associated with greater child somatization (self-report and parent-report), as well as higher levels of asthma morbidity and greater perceived child vulnerability to medical illness. Parent somatization did not vary significantly according to ethnicity, nor was it predictive of symptom perception (accurate perception, over perception or under perception). The results from the present study highlight the potential role of social modeling of somatization within families and its impact on asthma outcomes for children.