Non-Invasive prenatal testing with rolling circle amplification: Real-world clinical experience in a non-molecular laboratory.

BACKGROUND: Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) circulating in maternal blood provides a sensitive and specific screening technique for common fetal aneuploidies, but the high cost and workflow complexity of conventional methodologies limit its widespread implementation. A unique rolling circle amplification methodology reduces cost and complexity, providing a promising alternative for increased global accessibility as a first-tier test. METHODS: In this clinical study, 8160 pregnant women were screened on the Vanadis system for trisomies 13, 18, and 21, and positive results were compared to clinical outcomes where available. RESULTS: The Vanadis system yielded a 0.07% no-call rate, a 98% overall sensitivity, and a specificity of over 99% based on available outcomes. CONCLUSION: The Vanadis system provided a sensitive, specific, and cost-effective cfDNA assay for trisomies 13, 18, and 21, with good performance characteristics and low no-call rate, and it eliminated the need for either next-generation sequencing or polymerase chain reaction amplification.

Determination of (4-methylcyclohexyl)methanol isomers by heated purge-and-trap GC/MS in water samples from the 2014 Elk River, West Virginia, chemical spill.

A heated purge-and-trap gas chromatography/mass spectrometry method was used to determine the cis- and trans-isomers of (4-methylcyclohexyl)methanol (4-MCHM), the reported major component of the Crude MCHM/Dowanol™ PPh glycol ether material spilled into the Elk River upriver from Charleston, West Virginia, on January 9, 2014. The trans-isomer eluted first and method detection limits were 0.16-µg L(-1)trans-, 0.28-µg L(-1)cis-, and 0.4-µg L(-1) Total (total response of isomers) 4-MCHM. Estimated concentrations in the spill source material were 491-g L(-1)trans- and 277-g L(-1)cis-4-MCHM, the sum constituting 84% of the source material assuming its density equaled 4-MCHM. Elk River samples collected⩽3.2 km downriver from the spill on January 15 had low (⩽2.9 µg L(-1) Total) 4-MCHM concentrations, whereas the isomers were not detected in samples collected 2 d earlier at the same sites. Similar 4-MCHM concentrations (range 4.2-5.5 µg L(-1) Total) occurred for samples of the Ohio River at Louisville, Kentucky, on January 17, ∼630 km downriver from the spill. Total 4-MCHM concentrations in Charleston, WV, office tap water decreased from 129 µg L(-1) on January 27 to 2.2 µg L(-1) on February 3, but remained detectable in tap samples through final collection on February 25 indicating some persistence of 4-MCHM within the water distribution system. One isomer of methyl 4-methylcyclohexanecarboxylate was detected in all Ohio River and tap water samples, and both isomers were detected in the source material spilled.

Parent and child agreement on reports of problem behaviour obtained from a screening questionnaire, the SDQ.

BACKGROUND AND OBJECTIVES: This study examined the level of agreement between parents and children on the Strengths and Difficulties Questionnaire (SDQ) in a clinical sample in Sydney, Australia. METHODS: Parent and child SDQ reports were collected from 379 parents-child pairs. Children were aged between 11 and 18 years and met criteria for at least one psychiatric diagnosis. RESULTS: Overall agreement between children and parents was low to modest. Sixty nine percent of parent-child pairs agreed that the child's problems were either clinically significant or not ("neither", "both"), while in 27% of pairs only the parents regarded the problems as clinically significant ("parent only"), and in 4% of pairs only the children regarded the problems as clinically significant. There was higher agreement for children with mood, anxiety or somatoform disorders. Children with mood disorders were over-represented in the "child only" group, and those with conduct disorders were more likely to be in the "parent only" group. Children with anxiety and somatoform disorders were more likely to be in the "neither" group. Age was not associated with rates of parent-child agreement, however more girls agreed with their parents that either they did not have a problem ("neither") or they did have a problem without parental endorsement ("child only"). CONCLUSIONS: This study highlights the limited agreement between parent and child reports of problem behaviour and the importance of integrating discrepant information into child and adolescent mental health assessments, formulations and treatments.

A conceptual model and practice framework for managing chronic pain in children and adolescents.

Pain is a complex phenomenon: a sensory experience originating in traumatized tissues; an emotional (affective) experience that signals danger in the internal (body) or external environment; and a "disposition to act" that results either in "action" that prioritizes escape or in "inhibition of action" to minimize injury or facilitate healing. Recent advances in our understanding of the affective components of pain have significant implications for the treatment of chronic pain in children and adolescents. This article describes a chronic pain clinic for children and adolescents developed by the pain service of a large pediatric teaching hospital. Pain is conceptualized and managed in terms of multiple, interrelating systems (the body level, the psychological level, and the social level). This model of care is illustrated with reference to the management of two cases of children with chronic pain and significant functional impairment. A brief overview of the care utilization of 62 children referred to the Chronic Pain Clinic is also provided, with the clinical characteristics of 40 children with somatoform pain disorder (SPD) being described in more detail. Of 28 children with SPD treated with our systems intervention, 82% reported significant reductions in pain intensity, 71% returned to school full time, and 29% part time. An advantage of this integrated, family-based assessment and treatment approach is the overarching emphasis on identifying the contribution of each system to the child's subjective experience of pain, thereby avoiding the deleterious polarization of the pain as either physical or psychogenic in origin.

Conversion disorder in Australian pediatric practice.

OBJECTIVES: To describe the incidence and clinical features of children presenting to Australian child health specialists with conversion disorder. METHOD: Active, national surveillance of conversion disorder in children younger than 16 years of age during 2002 and 2003. RESULTS: A total of 194 children were reported on. The average age was 11.8 years; 23% were younger than 10 years of age. Presentations were complex, with 55% presenting with multiple conversion symptoms. The most common presentations were disturbance of voluntary motor function (64%), sensory symptoms (24%), pseudoseizure (23%), and respiratory problems (14%). Hospital admission was required for 70%, with an average stay of 10.2 days. Antecedent stressors were also reported in 62% and a history of mental health concerns in 42%, with 14% of children taking psychotropic medications for comorbid anxiety or depression. The incidence of conversion disorder in Australian specialist child health practice is estimated to be between 2.3 and 4.2/100,000. CONCLUSIONS: Conversion disorder is associated with a significant burden for the child, family, and the health system. This study emphasizes the comorbidity with anxiety, depression, and symptoms of pain and fatigue. It also highlights the potential impact of "commonplace" stressors such as family conflict and children's loss of attachment figures.

Psychiatric emergencies in children and adolescents: an Emergency Department audit.

OBJECTIVE: To describe a cohort of children presenting to a paediatric emergency department with mental health problems. METHODS: An Emergency Department (ED) computerized record system and hospital records were used to obtain data on children who presented to a paediatric ED with mental health problems. RESULTS: There were 291 presentations of 231 children in a 10-month period, about one per day. They were a small (0.8%) but complicated part of the ED workload. Most were first presentations and came voluntarily to ED. There were a wide variety of presenting symptoms including self-harm, suicide attempts, behavioural disorders and medical disorders with associated psychological problems. Acute psychosis was rare. CONCLUSIONS: Many children with mental health problems were seen for the first time in ED. With the growing awareness of mental health problems in this age group, it is likely that such presentations will increase. Paediatric and psychiatry services have an opportunity to work together to provide early intervention services for what is potentially a very accessible population.

Prospective incidence of first onsets and recurrences of depression in individuals at high and low cognitive risk for depression.

Do negative cognitive styles provide similar vulnerability to first onsets versus recurrences of depressive disorders, and are these associations specific to depression? The authors followed for 2.5 years prospectively college freshmen (N = 347) with no initial psychiatric disorders at high-risk (HR) versus low-risk (LR) for depression on the basis of their cognitive styles. HR participants had odds of major, minor, and hopelessness depression that were 3.5-6.8 times greater than the odds for LR individuals. Negative cognitive styles were similarly predictive of first onsets and recurrences of major depression and hopelessness depression but predicted first onsets of minor depression more strongly than recurrences. The risk groups did not differ in incidence of anxiety disorders not comorbid with depression or other disorders, but HR participants were more likely to have an onset of anxiety comorbid with depression.