Adolescent medicine (Philadelphia, Pa.)最新文献

The muscular dystrophies (MDs) are inherited or de novo gene mutation disorders of sarcolemma-associated proteins or nuclear membrane-associated proteins. They are manifested by progressive striated muscle weakness and wasting. Cardiac and central nervous system abnormalities may be present. MD phenotypes vary in terms of defective gene, mode of inheritance, age of onset, distribution of muscle involvement, and severity. Clinical diagnosis is confirmed by direct or indirect mutation analysis and gene product defect detection in frozen muscle samples by immunohistochemistry and Western blot. The majority of the adolescents with MD are already aware of the nature and course of their condition, which adds a significant psychosocial pathology to their physical disability. Management includes: (1). prevention of new cases by preconception counseling, prenatal testing, and neonatal screening; (2). prevention and treatment of skeletal deformities, cardiac and respiratory insufficiencies, and psychological and psychiatric disturbances; and (3). education, counseling, and support to patients, parents, siblings, caretakers, and teachers. Management is better achieved with a multidisciplinary approach. Although there is no cure, oral steroids may preserve transitorily acceptable muscle function. Despite the initial failure with myoblast transfer therapy, advances in molecular genetic and stem cell implants are promising.

This chapter addresses the multidimensional nature of tic disorders. The several major dimensions include (1) duration of symptoms (from less than 1 year to lifelong); (2) intensity of symptoms (from mild to severe); (3) frequency of symptoms (from rare to constant); (4) variety of symptoms (from single motor group/single phonic tic to multiple occurrences of both types); (5) complexity of tics (from simple motor/phonic tics to tics involving multiple motor groups or the production of multiple sounds including involuntary phrases); (6) response to treatment (from good to minimal or no response); and (7) comorbid psychiatric disorders (from none to multiple). These dimensions and their relationship to a variety of tic disorder diagnoses are explored.

Multiple sclerosis (MS) is a devastating neurologic illness that affects 250000-350000 Americans and is second only to trauma as the leading cause of neurologic disability among young adults. The hundreds of case reports and many retrospective reviews on pediatric and adolescent MS provide clear evidence in the literature that it exists. MS will not be encountered often in primary pediatric practice. Only 2% of patients with MS have onset of their illness before age 21 years, but this article shows that it can be diagnosed with the proper index of suspicion. Early diagnosis is of particular importance because of the investigation of medications that have been proven to prevent the progression of illness and disability. Because of the advances in preventative therapies, the timely and accurate diagnosis of MS in childhood is of utmost importance to prevent future disability. This article presents a case of a preadolescent MS, reviews MS in detail, and highlights the literature to date on pediatric MS to provide clinicians with the knowledge to arrive at a speedy and accurate diagnosis.

This article examines neuropsychological deficits associated with several medical disorders (HIV infection, sickle cell disease, diabetes, and Turner syndrome), psychiatric disorders (schizophrenia, conduct disorder, mood disorder, and substance abuse disorder), and traumatic brain injury, especially as a consequence of child and relationship abuse. The literature reviewed includes attention to developmental and sociocultural considerations (gender, ethnicity, interpersonal violence, family function). A brief overview of changes in neuropsychological practice is provided. The focus of the article is on the use of neuropsychological evaluation as a first step in rehabilitation for adolescents with neuropsychological deficits. A complex clinical case evaluated with the Ackerman-Banks Neuropsychological Rehabilitation Battery is included to demonstrate the way in which identification of neuropsychological strengths and weaknesses can be used to develop treatment recommendations.

This article discusses the neuropsychological sequelae of adolescent infectious diseases. Primary care physicians are encouraged to extend their clinical activities beyond the primary medical care aspects of the infectious disease process to encompass a comprehensive, multidisciplinary, continuum of health care approach. Patient, disease, and socioecologic parameters are the foundation of this approach. This article is designed to help primary care physicians appreciate the complexity of neuropsychological infectious disease issues in the adolescent. Human immunodeficiency virus 1 (HIV-1) is emphasized because the legion of related sequelae demands a comprehensive health care approach and serves as a model for discussing other principal infectious diseases such as encephalitis (particularly Lyme disease) and bacterial meningitis.

Guillain-Barré syndrome is the most common paralytic illness affecting children and adolescents in countries with established immunization programs. The term is currently used to encompass a group of disorders in which an autoimmune response occurs days or weeks after an antecedent infection or event (e.g., immunization) and results in an acute polyradiculoneuropathy with flaccid weakness, areflexia, and increased cerebrospinal fluid protein. This chapter reviews the epidemiology, clinical presentation, diagnostic criteria, pathogenesis, treatment, and outcome of this condition.

Most adolescent headaches are related either to an acute sensory systemic illness on an acute basis or to episodic tension in a more chronic recurrent pattern. A careful history and physical and neurologic examination of these adolescents with nonmigraine headache are necessary to discern the need for additional testing. Additional testing will determine if the headaches are symptomatic of a progressive neurologic disorder or a chronic recurrent process such as tension-type headache. Only after a correct diagnosis is made can a therapeutic regimen be applied or, in the uncommon occurrence of a secondary neurologic process, appropriate diagnosis and referral to minimize morbidity be made. The important distinction for the clinician is determination of headache as a symptom of another illness or a primary chronic headache disorder.

Adolescent growth and development occur over multiple domains of function and represent the neurodevelopment process of maturation. Adolescents who have experienced normal development will transition through this complex process and will achieve mastery and integration of those domains by late adolescence (ages 17-21 years). Those youth who do not experience normal development can experience deficits in one or all of the domains of function. These deficits are better understood by examining the neurodevelopmental aspects of maturation. Identifying the interactive effects of strengths and weaknesses in each domain of function will give the clinician access to methods of refining and individualizing treatment.

Adolescent patients who report physical symptoms that are unexplained by physical disease or pathophysiologic processes are prevalent in health care settings. Physical symptoms with no notable physical pathology are often referred to as medically unexplained symptoms (MUS). Common MUS found in adolescent populations include headaches, abdominal pain, back pain, fatigue, dizziness, numbness and tingling sensations in the limbs, and gastrointestinal symptoms. The most important diagnostic concern is the exclusion of neurologic and other general medical conditions. Failure to diagnose real physical pathology appropriately can have serious, deleterious consequences. However, it is also important for physicians to address psychological and other psychosocial factors that may play a role in the etiology or maintenance of MUS. The onus often falls on the primary care physician to screen for such problems and to make cost-effective and appropriate referrals. This article reviews some alternative treatment guidelines for physicians to assist in the assessment, intervention, and referral process for adolescent patients with MUS. The advantages of integrating psychological screening practices into the evaluation process and present recommendations regarding the management of such patients are discussed.

Although seizures are one of the most common presenting neurologic problems in adolescence, the diagnosis and management of seizures in this population can be a challenge. Seizures can be secondary to an underlying illness or to a genetically based epileptic syndrome. The first task of the clinician is proper diagnosis and evaluation. The second task is to determine whether treatment with antiepileptic drugs (AEDs) is necessary and, if so, which AED is the most appropriate for the patient's epilepsy with the least impact on the adolescent's quality of life. The newer AEDs allow the clinician more flexibility to treat not only the epilepsy, but also any coexisting medical conditions in the patient. The impact of epilepsy on the quality of life of the adolescent cannot be overestimated. Epilepsy affects the adolescent's social life, peer interactions, educational and career decisions, driving ability, and reproductive life. Communication with the adolescent regarding the effect epilepsy can have on these issues is crucial to proper management of the patient. Although treating the seizures and all of the ramifications of the diagnosis is a challenge, the majority of adolescents can achieve the primary goals of therapy: seizure freedom and the maintenance of high quality of life.