Corrigendum to “C19orf12 and FA2H Mutations Are Rare in Italian Patients with Neurodegeneration with Brain Iron Accumulation” [Semin Pediatr Neurol 2012;19(2):75-81]
The authors regret that in the above-mentioned article one of the authors name was incorrect. The correct name is Birgit Siegel, MD, and not Briggite Siegel, PhD. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - March 1, 2013 Category: Neurology Source Type: research

Congenital Central Hypoventilation Syndrome and Sudden Infant Death Syndrome: Disorders of Autonomic Regulation
Long considered a rare and unique disorder of respiratory control, congenital central hypoventilation syndrome has recently been further distinguished as a disorder of autonomic regulation. Similarly, more recent evidence suggests that sudden infant death syndrome is also a disorder of autonomic regulation. Congenital central hypoventilation syndrome typically presents in the newborn period with alveolar hypoventilation, symptoms of autonomic dysregulation and, in a subset of cases, Hirschsprung disease or tumors of neural crest origin or both. Genetic investigation identified PHOX2B, a crucial gene during early autonomic ...
Source: Seminars in Pediatric Neurology - March 1, 2013 Category: Neurology Authors: Casey M. Rand, Pallavi P. Patwari, Michael S. Carroll, Debra E. Weese-Mayer Source Type: research

Laboratory Evaluation of Pediatric Autonomic Disorders
The autonomic nervous system controls a variety of fundamental physiological processes in the human body including regulation of breathing, heart rate, blood pressure, temperature, and gastrointestinal motility. Although, methods of testing autonomic function have been developed and normative data have been collected in adults, development of child-friendly testing and the field of pediatric autonomic medicine is just beginning. These noninvasive testing methods serve to identify changes in autonomic functioning and to clarify whether dysfunction is isolated or crosses into multiple systems. Methods for testing cardiovagal...
Source: Seminars in Pediatric Neurology - March 1, 2013 Category: Neurology Authors: Nancy L. Kuntz, Pallavi P. Patwari Source Type: research

Autonomic Dysfunction in Epilepsy and Mitochondrial Diseases
The autonomic nervous system is involved and influenced in patients with epilepsy and mitochondrial diseases in a variety of complex, often multifaceted, mechanisms. Autonomic dysfunction often remains unrecognized due to a lack of attention and awareness under the prominence of other disease symptoms. Recognition of the diverse autonomic manifestations of epilepsy and mitochondrial disease would enhance early diagnosis and appropriate management, ultimately improving quality the of life and reducing morbidity and mortality in the affected patients. In this chapter, we discuss autonomic nervous system dysfunction in childr...
Source: Seminars in Pediatric Neurology - March 1, 2013 Category: Neurology Authors: Sumit Parikh, Ajay Gupta Source Type: research

Gastrointestinal Manifestations of Pediatric Autonomic Disorders
Functional gastrointestinal disorders (FGIDs) are currently classified under the Rome criteria based on symptoms and absence of organic disease. Preliminary studies have shown that FGIDs are probably not restricted to the GI tract, but may represent a systemic disorder with comorbidities affecting other parts of the body, including migraine, fatigue, aches and pains, etc. The autonomic nervous system (ANS) provides the extrinsic control of GI motility, secretions, and even immune response. The role of the ANS in the development of FGIDs and comorbidities is still unclear. Limited data demonstrate orthostatic intolerance su...
Source: Seminars in Pediatric Neurology - March 1, 2013 Category: Neurology Authors: Gisela Chelimsky, Thomas C. Chelimsky Source Type: research

Postural Tachycardia Syndrome in Children and Adolescents
Postural tachycardia syndrome is a chronic condition with frequent symptoms of orthostatic intolerance or sympathetic activation and excessive tachycardia while standing, without significant hypotension. Orthostatic symptoms include dizziness, lightheadedness, blurring of vision, near faints, weakness in legs, poor concentration, nausea, and headaches. Somatic symptoms include fatigue, sleep disorder, widespread pain, abdominal pain, and menstrual irregularities. Psychological problems may overlap with physical complaints. This review discusses the normal physiology of orthostatic change, different pathophysiological mecha...
Source: Seminars in Pediatric Neurology - March 1, 2013 Category: Neurology Authors: Imad T. Jarjour Source Type: research

Clinical Approach to Syncope in Children
Pediatric syncope is one of the most common neurological problems in the pediatric population in both the office setting and in the emergency department. The abrupt brief loss of consciousness is usually dramatic and alarming to patients, family, onlookers, and providers. The differential diagnosis of syncope is wide but most cases are benign. A comprehensive but focused history and a thorough clinical examination are usually the cornerstones in the diagnosis of high-risk patients. It should be noted that the evaluation of syncope in children is costly and testing provides a low diagnostic yield. This chapter reviews the v...
Source: Seminars in Pediatric Neurology - March 1, 2013 Category: Neurology Authors: Manikum Moodley Source Type: research

Genetic Autonomic Disorders
Genetic disorders affecting the autonomic nervous system can result in abnormal development of the nervous system or they can be caused by neurotransmitter imbalance, an ion-channel disturbance or by storage of deleterious material. The symptoms indicating autonomic dysfunction, however, will depend upon whether the genetic lesion has disrupted peripheral or central autonomic centers or both. Because the autonomic nervous system is pervasive and affects every organ system in the body, autonomic dysfunction will result in impaired homeostasis and symptoms will vary. The possibility of genetic confirmation by molecular testi...
Source: Seminars in Pediatric Neurology - March 1, 2013 Category: Neurology Authors: Felicia B. Axelrod Source Type: research

Preface
Autonomic disorders are now being recognized in increasing numbers in children and adolescents. However, disease characteristics, diagnostic criteria, and therapies are evolving and remain largely undefined. (Source: Seminars in Pediatric Neurology)
Source: Seminars in Pediatric Neurology - March 1, 2013 Category: Neurology Authors: Manikum Moodley Source Type: research