Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities.

The 22q11.2 deletion syndrome (22q11DS) presents with medical and neuropsychiatric manifestations including neurocognitive deficits. Quantitative neurobehavioral measures linked to brain circuitry can help elucidate genetic mechanisms contributing to deficits. To establish the neurocognitive profile and neurocognitive 'growth charts', we compared cross-sectionally 137 individuals with 22q11DS ages 8-21 to 439 demographically matched non-deleted individuals with developmental delay (DD) and medical comorbidities and 443 typically developing (TD) participants. We administered a computerized neurocognitive battery that measures performance accuracy and speed in executive, episodic memory, complex cognition, social cognition and sensorimotor domains. The accuracy performance profile of 22q11DS showed greater impairment than DD, who were impaired relative to TD. Deficits in 22q11DS were most pronounced for face memory and social cognition, followed by complex cognition. Performance speed was similar for 22q11DS and DD, but 22q11DS individuals were differentially slower in face memory and emotion identification. The growth chart, comparing neurocognitive age based on performance relative to chronological age, indicated that 22q11DS participants lagged behind both groups from the earliest age assessed. The lag ranged from less than 1 year to over 3 years depending on chronological age and neurocognitive domain. The greatest developmental lag across the age range was for social cognition and complex cognition, with the smallest for episodic memory and sensorimotor speed, where lags were similar to DD. The results suggest that 22q11.2 microdeletion confers specific vulnerability that may underlie brain circuitry associated with deficits in several neuropsychiatric disorders, and therefore help identify potential targets and developmental epochs optimal for intervention.

Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated.

BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11DS) is a common genetic disorder with high rates of psychosis and other psychopathologies, but few studies discuss treatment. Our aim was to characterize the prevalence and treatment of major psychiatric illnesses in a well-characterized sample of individuals with 22q11DS. METHOD: This was a cross-sectional study of 112 individuals aged 8 to 45 years with a confirmed diagnosis of 22q11DS. Each participant was administered a modified Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS) and the Structured Interview for Prodromal Syndromes (SIPS). Phenotypes assessed were threshold and subthreshold psychosis, depression, mania, generalized and separation anxiety, obsessions/compulsions, inattention/hyperactivity and substance use. Histories of mental health care and current psychotropic treatment were obtained. RESULTS: Psychopathology was common, with 79% of individuals meeting diagnostic criteria for a disorder at the time of assessment. Diagnoses of psychosis were made in 11% of cases, attenuated positive symptom syndrome (APS) in 21%, and 47% experienced significant subthreshold symptoms. Peak occurrence of psychosis risk was during adolescence (62% of those aged 12-17 years). Criteria for a mood disorder were met by 14%, for anxiety disorder 34% and for attention deficit hyperactivity disorder (ADHD) 31%. Mental health care had been received by 63% of individuals in their lifetime, but only 40% continued therapy and 39% used psychotropics. Antipsychotics were used by 42% of participants with psychosis and none of the participants with APS. Half of those at risk for psychosis were receiving no mental health care. CONCLUSIONS: Psychopathology is common in 22q11DS but is not adequately treated or clinically followed. Particular attention should be paid to subthreshold psychotic symptoms, especially in adolescents.

Low normal fasting glucose and risk of accidental death in Korean adults: A prospective cohort study.

AIM: This study aimed to prospectively examine whether low normal glucose levels and hypoglycaemia are associated with increased mortality due to external causes, especially unintentional accidents. METHODS: A total of 345,318 normoglycaemic Korean adults who had undergone health examinations during 2002-2003 were followed-up to 2013. To avoid potential biases related to glucose-lowering medication use, those with known diabetes or hyperglycaemia were excluded. RESULTS: During 3.6 million person-years of follow-up, 1293 participants died because of unintentional accidents. Hazard ratios (HRs) for these accidental deaths were 1.26 (95% CI: 1.11-1.42), 1.60 (1.21-2.11) and 3.07 (1.37-6.85) for fasting serum glucose (FSG) levels of 70-79, 55-69 and <55mg/dL (3.9-4.4, 3.05-3.83 and <3.05mmol/L), respectively, compared with 80-99mg/dL (4.44-5.5mmol/L). FSG levels<80mg/dL were associated with an approximately 30% higher mortality due to accidents: specifically, 40% were non-fall-related injury; 50% were automobile-related; and 80% were motorcycle-related. The associations were weak (approximately 10% higher mortality, with P>0.05 for each cause) for deaths due to traffic accidents (pedestrians, pedal cyclists), falls, intentional self-harm and physical assault. The population attributable risks for FSG levels <80mg/dL were 10% (95% CI: 2-18%) for non-fall-related injury, 11% (6-17%) for car accidents and 17% (6-27%) for motorcycle accidents. CONCLUSION: FSG levels of 70-79mg/dL (3.9-4.4mmol/L) as well as <70mg/dL are risk factors for accidental death. Appropriate management of the impact of FSG levels <80mg/dL might reduce unintended deaths due to non-fall-related injury, and automobile and motorcycle accidents, by ≥10%.

Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome.

Individuals with 22q11.2 deletion syndrome (22q11DS) are at markedly elevated risk for schizophrenia-related disorders. Stability, emergence, remission and persistence of psychosis-spectrum symptoms were investigated longitudinally. Demographic, clinical and cognitive predictors of psychosis were assessed. Prospective follow-up over 2.8 years was undertaken in 75 individuals with 22q11DS aged 8-35 years. Mood, anxiety, attention-deficit hyperactivity disorders and psychosis-spectrum symptoms were assessed with the Kiddie-Schedule for Affective Disorders and Schizophrenia and Scale of Prodromal Symptoms (SOPS). Four domains of cognition were evaluated with the Penn Computerized Neurocognitive Battery (executive functioning, memory, complex cognition and social cognition). Psychotic disorder or clinically significant SOPS-positive ratings were consistently absent in 35%, emergent in 13%, remitted in 22% and persistent in 31% of participants. Negative symptoms and functional impairment were found to be predictive of the emergence of positive psychosis-spectrum symptoms and to reflect ongoing deficits after remission of positive symptoms. Dysphoric mood and anxiety were predictive of emergent and persistent-positive psychosis-spectrum symptoms. Lower baseline global cognition and greater global cognitive decline were predictive of psychosis-spectrum outcomes but no particular cognitive domain stood out as being significantly more discriminating than others. Our findings suggest that negative symptoms, functioning and dysphoric mood are important predictors of psychosis risk in this population.

Broadcasting health programmes among audience and professionals in Korea: perceptions and needs.

Mass media has become an essential part of modern society, and it should be noted that mass media plays an important role in delivering information even in the area of health. This study was intended to investigate the perceptions of and needs for broadcasting health programmes among audience and related professionals in Korea, which will serve to help in the development of valuable health programmes. Data were collected through a series of self-administered questionnaire surveys conducted on two types of subjects sampled from residents in the areas around Seoul, Korea, and health or broadcasting professionals working on health programmes. There were some discrepancies in the perceptions of and needs for health programmes between audience and professionals, especially the main audience age group and image, needs for topics and mode of health programme. In conclusion, in order to enhance current health programmes which focus on aspects of diagnosis and treatment of diseases, the range of health programmes should be expanded to fulfill various needs.

Incidental radiologic findings in the 22q11.2 deletion syndrome.

BACKGROUND AND PURPOSE: The 22q11.2 deletion syndrome is a common genetic microdeletion syndrome that results in cognitive delays and an increased risk of several psychiatric disorders, particularly schizophrenia. The current study investigates the prevalence of incidental neuroradiologic findings within this population and their relationships with psychiatric conditions. MATERIALS AND METHODS: Brain MR imaging from 58 individuals with 22q11.2 deletion syndrome was reviewed by board-certified radiologists by using standard clinical procedures. Intracranial incidental findings were classified into 8 categories and compared with a large typically developing cohort. RESULTS: The rate of incidental findings was significantly higher (P < .0001) in 22q11.2 deletion syndrome compared with typically developing individuals, driven by a high prevalence of cavum septum pellucidum (19.0%) and white matter abnormalities (10.3%). Both of these findings were associated with psychosis in 22q11.2 deletion syndrome. CONCLUSIONS: Cavum septum pellucidum and white matter hyperintensities are significantly more prevalent in patients with the 22q11.2 deletion syndrome and may represent biomarkers for psychosis.

Effects of food on the central and peripheral haemodynamic response to upright exercise in normal volunteers.

The central and peripheral haemodynamic effects of a modest meal were investigated in healthy volunteers at rest and in response to submaximal exercise. The meal increased heart rate, cardiac output, oxygen consumption, carbon dioxide production, and minute ventilation at rest and during exercise. The effects of food were additive to those induced by the exercise. Food had no effect on limb blood flow and lowered total systemic vascular resistance suggesting that there were no compensatory changes in regional blood flow to help redirect blood to the gut. An increase in cardiac output, and therefore myocardial work, is the predominant cardiovascular response to eating and this may help explain the postprandial deterioration in symptoms of some patients with cardiovascular disorders.