The developmental course of illicit substance use from age 12 to 22: links with depressive, anxiety, and behavior disorders at age 18

Background:  Previous theory and research suggest links between substance use and externalizing behavior problems, but links between substance use and internalizing problems are less clear. The present study sought to understand concurrent links among diagnoses of substance use disorders, internalizing disorders, and behavior disorders at age 18 as well as developmental trajectories of illicit substance use prior to and after this point.
Methods:  Using data from 585 participants in the Child Development Project, this study examined comorbidity among substance use, behavior, and internalizing disorders at age 18 and trajectories of growth in illicit substance use from age 12 to age 22.
Results:  In this community sample, meeting diagnostic criteria for comorbid internalizing disorders, a behavioral disorder (conduct disorder or oppositional defiant disorder) alone, or both internalizing and behavioral disorders predicted higher concurrent substance use disorders (abuse, dependence, or withdrawal). Meeting diagnostic criteria for an anxiety disorder alone or depression alone did not predict higher concurrent substance use diagnoses. Over time, youths with behavioral disorders at age 18 showed a pattern of increasing substance use across early adolescence and higher levels of substance use than those with no diagnosis at age 18. Substance use declines from late adolescence to early adulthood were observed for all groups.
Conclusions:  Substance use disorders were more highly comorbid with behavior disorders than with internalizing disorders at age 18, and behavior disorder and comorbid behavior-internalizing disorders at age 18 were related to trajectories characterized by steep increases in illicit substance use during adolescence and high rates of illicit substance use over time.     

阵发性运动障碍性疾病的临床特征与分类探讨

目的：总结各类阵发性运动障碍性疾病的临床特征与治疗反应，并对其发病机理、分类加以探讨。方法：对12例阵发性运动障碍性疾病患儿进行了临床观察与随访，及录像脑电图（VEEG）、头颅CT和（或）MRI、铜蓝蛋白、角膜K－F环和肌电图（EMG）检查。结果：本组中6例为阵发性运动性舞蹈手足徐动（PKC），6例为阵发性肌张力不全舞蹈手足徐动（PDC），无阵发性运动诱发的肌张力不全（PED）。CT和（或）MRI、角膜K－F环及EMG无特殊，3例PKC患儿EEG有痫样放电。PKC对抗癫痫药反应良好，PDC无有效治疗。结论：阵发性运动障碍包含了一组少见的反复发作的运动异常性疾病，可以分为PKC、PDC、PED、阵发性睡眠诱发运动障碍（PHD）和其他。PKC由突发运动所诱发，发作频繁，持续时间短暂，抗癫痫药治疗效果显著，其发病机理可能与癫痫有关。PDC与运动无关，持续时间长短不一，尚无有效的治疗方法。     

Anxiety and mood disorders in children and adolescents: A practice update

Anxiety and mood disorders are among the most common disorders in children and adolescents. They presage later emotional difficulties and disabilities. An understanding of the disorders’ presentation, common contributing factors and methods of intervention will enable paediatricians and family doctors to provide optimal support to these children and their families. The present paper briefly reviews the epidemiology of anxiety and mood disorders in children and adolescents. Phenomenology is referred to according to the major diagnostic categories for anxiety and depression. Contributing factors, including genetic and environmental components and their possible interaction, are discussed. The management of the disorders, including common strategies for encouraging coping responses, stress reduction and medication, is also described.     

Annual Research Review: Anterior Modifiers in the Emergence of Neurodevelopmental Disorders (AMEND)—a systems neuroscience approach to common developmental disorders

We present the Anterior Modifiers in the Emergence of Neurodevelopmental Disorders (AMEND) framework, designed to reframe the field of prospective studies of neurodevelopmental disorders. In AMEND we propose conceptual, statistical and methodological approaches to separating markers of early-stage perturbations from later developmental modifiers. We describe the evidence for, and features of, these interacting components before outlining analytical approaches to studying how different profiles of early perturbations and later modifiers interact to produce phenotypic outcomes. We suggest this approach could both advance our theoretical understanding and clinical approach to the emergence of developmental psychopathology in early childhood.     

先天性糖蛋白糖基化缺陷导致的疾病

先天性糖蛋白糖基化缺陷(congenital disordersof glycosylation,CDG)是一组由常染色体隐性遗传引起的糖蛋白合成缺陷而导致的疾病,可引起一系列临床表现[1]。糖蛋白的蛋白糖基化修饰是一个极其复杂的过程,参与其中的酶种类繁多。糖蛋白糖基化缺陷可累及多个脏器,如神经、造血、消化和生殖系统等,从而引起多种多样的临床表现。该病最早由比利时儿科医师Jaeken等[2]于1980年首次报道。迄今根据缺陷的酶、缺陷部位已报道有19型,见表1。1CDG的分型糖蛋白由糖链和多肽链组成,其糖链又有O!糖苷键连接的糖链和N!糖苷键连接的糖链2种。CDG患者…     

PRESUMABLY INNATE AND ACQUIRED PROCESSES IN CHILDREN WITH ATTENTION AND/OR READING DISORDERS

Innate and acquired automatic information processing was compared in non-problem students and three groups of educationally troublesome children: two normal reading groups with Attention Deficit Disorder (ADD), one without and one with hyperactivity, and a non-hyperactive Reading Disabled (RD) group. All groups displayed reliable, presumably innate, automatic processing on measures of temporal and frequency sensitivity, but the two ADD groups made less precise judgements than controls. Contrasted with controls, all clinical groups exhibited delayed automatization in arithmetic computation, but the handicapped groups did not differ from controls on other measures of acquired automatization (speed of writing and naming).     

Troubles de la modulation sensorielle et difficultés adaptatives dans les troubles du spectre de l’autisme

Introduction

People suffering from autism spectrum disorders (ASD) provide atypical responses to sensorial stimulations, indicating specific sensory processing. These responses vary from one another and within the same individual with ASD, resulting in maladaptive functional capacities in everyday life. Factors explaining those specificities are poorly defined and need to be better identified.

What’s new in autism?

This review on autism spectrum disorder (ASD) focusses on recent insights in the clinical picture, such as continuity of the phenotype and the concept of broader phenotype, on epidemiology and on clinical issues relevant to physicians, including new methods for early screening and diagnosis, psychiatric and somatic co-morbidity, and the expansion of so-called complementary and alternative treatments. ASD is a disorder with mainly genetic causes and recent insights show that a variety of genetic mechanisms may be involved, i.e. single gene disorders, copy number variations and polygenic mechanisms. Technological advances in genetics have lead to a number of promising findings, which, together with other lines of fundamental research, suggest that ASD may be a disorder of connectivity in the brain, at least in a subgroup of patients. It is possible that part of the genetic load in autism actually reflects gene-environment interaction, but there is no evidence for purely environmental causes in a substantial number of cases. Clinical research suggests that ASD may be a multi-system disorder in at least a subgroup of subjects, affecting the gastro-intestinal (GI) tract, the immune system and perhaps other systems. Behavioural treatments remain the cornerstone of management, and are mainly aimed at stimulation of the domains of impaired development and reducing secondary behaviours. These treatments are constantly being refined, but the main progress in this area may be the increase of research on effectiveness.     

Platelet function disorders

Platelet function disorders are a rare cause of bleeding in hematological practice. The inherited variety includes defects in platelet adhesion, aggregation, secretion and platelet procoagulant activities. The clinical presentation is usually mild with mainly mucocutaneous bleeds. Milder phenotypes may pass off unrecognized in childhood and present later in life. Testing includes a coagulation screen, which may show a prolonged bleeding time, followed by platelet aggregation tests with agonists. Flow cytometry for platelet surface markers, membrane glycoprotein analysis and facilities for identification of the genetic defect are usually available in research laboratories. Recent advances have opened vistas for antenatal testing. Bone marrow transplantation is the only curative therapeutic option available.     

Social anxiety score is high in adolescents with chronic migraine

Background: Social anxiety disorder, also known as social phobia, is a marked and persistent fear of one or more social or performance situations in which the person is exposed to unfamiliar people or to possible scrutiny by others. It usually begins in mid‐adolescence and has a chronic course and interferes in academic, social, family and personal functioning. Recent studies have shown that social anxiety disorder is more prevalent in adults with migraine. Little evidence on this subject is available for the adolescent population. Methods: This study was performed between August 2009 and August 2010; all patients were recruited in schools, pediatric or neuropediatric facilities, and were submitted to a detailed headache questionnaire, which consisted of demographic and clinical data. To evaluate social anxiety, the Social Phobia Inventory was used. Results: A total of 151 subjects were evaluated: 50 had chronic migraine, 50 had episodic migraine and 51 were control subjects. In the chronic migraine group, the mean score in the Social Phobia Inventory was 18.5 ± 12.4, which was significantly higher than in the episodic migraine group (12.1 ± 8.1) and in the control group (13.8 ± 10.8; F²¹³¹= 4.8, P= 0.010). The mean score, however, was not significantly different between the control and episodic migraine groups. Conclusions: Chronic migraine is strongly associated with high social anxiety score, regardless of demographic data and pain intensity. The total burden of migraine may be increased with social anxiety disorder comorbidity.     

Use of purified fibrinogen concentrate for dysfibrinogenemia and importance of laboratory fibrinogen activity measurement

We report a patient with dysfibrinogenemia treated with purified fibrinogen concentrate who had discrepant post‐treatment laboratory values. The patient had mild bleeding symptoms and was diagnosed with dysfibrinogenemia based on fibrinogen activity of 51 mg/dl and antigen of 240 mg/dl. He was treated for an adenoidectomy with purified fibrinogen concentrate (RiaSTAP®) at a dose of 70 mg/kg. A discrepancy in post‐treatment fibrinogen activity was observed between the hospital and reference laboratories. Investigation revealed differences in laboratory assay and calibration methods. Fibrinogen concentrate may be a treatment option for patients with dysfibrinogenemia, but accurate laboratory technique is critical for fibrinogen measurement. Pediatr Blood Cancer 2013; 60: 500–502. © 2012 Wiley Periodicals, Inc.     

Neurological presentations of conversion disorders in a group of Singapore children

Background: Neurological presentations of conversion disorders in children are not uncommon. Conversion disorders mimicking neurological conditions constitute a group of underdiagnosed conditions.
Methods: This was a retrospective study of 13 children with neurological presentations of conversion disorders who were admitted to hospital. Patients were followed for 1–4 years.
Results: Paralysis was the most common neurological symptom, patients presented with multiple, complex conversion symptoms and other neurological symptoms such as seizures and headache. The affected children underwent complete physical, neurological examination and psychological evaluation. Investigations included blood tests, cranial imaging and electroencephalography. Most common external environmental factors detected were school stress and change in family situation. Five of 13 patients had family members who were reported to have medical conditions with presentations similar to patients' neurological and psychological problem. All the patients were admitted, five patients required multiple admissions. Ten patients eventually had good outcome in terms of academic grades and social functioning.
Conclusion: Diagnosis of conversion disorders mimicking neurological conditions can be challenging. There is a need to heighten awareness of this entity for early recognition and diagnosis. Awareness of this entity coupled with a high index of suspicion can facilitate accurate and earlier diagnosis.     

Evaluación de la calidad de vida en escolares con antecedentes de desnutrición temprana severa

IntroductionSevere malnutrition in young children may lead to long-term complications, in particular learning and psychosocial disorders linked to health related quality of life (HRQOL). The aim of this study was to evaluate HRQOL in children whit a history of severe malnutrition before 2 years of life, expecting to find lower scores in these patients.Material and methodA comparative study was performed on schoolchildren between 5 and 12 years with a history of early severe malnutrition, excluding those with chronic diseases. The Controls were healthy siblings of patients. The sample size was estimated as 26 subjects per group (Total = 52). Sociodemographic variables were recorded and the HRQOL was assessed with PedsQL4.0. Chi square and Student t test were applied. Significance level: P < .05.ResultsA total of 25 patients and 28 controls were studied. The HRQOL scores obtained from PedsQL for children with history of malnutrition, compared with their healthy siblings, were: Total: 80.82 ± 1.94 vs 89.18 ± 1.84 P < .0001), physical health/dimension: 87.75 ± 3.37 vs 94.75 ± 1.87 (P < .0001), psychosocial health: 77.77 ± 2.90 vs 86.57 ± 1.42 (P < .0001), emotional dimension: 67.80 ± 4.40 vs 78.75 ± 2.96 (P < .0001), social dimension: 88.80 ± 3.05 vs 95.71 ± 1.52 (P < .0001), and school dimension: 74.58 ± 3.80 vs 85.00 ± 3.51 (P < .0001).ConclusionsPatients with a history of early severe malnutrition, showed significantly lower HRQOL scores compared with controls.