• Associated features may include excessive shyness, social isolation, compulsive traits as well as opposi- tional behavior, particularly at home. In addition, high percentage of children with SM also have speech and language delays (estimates between 30 and 50%) as well as motor delays •With regard to differential diagnosis: 1. Caution is emphasized in diagnosing this disorder in bilingual or immigrant children. 2. Must determine if inhibition of speech is secondary to a more general communication disorder, mental retardation, pervasive developmental disorder, or psychotic disorder including schizophrenia. EPIDEMIOLOGY •Few studies have focused on the epidemiology of SM; prevalence rate is estimated as approximately 1% of school-age children. • Diagnosis is most typically made between ages 5 and 10 years, although age of onset may be much earlier. • The female:male ratio appears to be approximately 1.2:1, although a recent U.S. study did not find a gender difference. ETIOLOGY • Early theories focused on family dynamics or reac- tions to trauma. • Current conceptualizations emphasize a likely genetic contribution, focusing on strong evidence of familial anxiety and early behaviorally inhibited temperament. PROGNOSIS • Little information is available concerning prognosis. •A recent community study showed some preliminary support for a distinction between transient and per- sistent SM, with younger children with milder symp- toms more likely to remit spontaneously. • Retrospective self-report data suggest that individuals with a history of SM continue to experience signifi- cant social anxiety. EVALUATION, MANAGEMENT, AND TREATMENT •Assessment focuses primarily on parental report (including review of psychiatric symptoms, medical history, and social interactions) and assessment of academic, cognitive, and speech and language skills. Pediatricians are encouraged to ask parents specifi- cally about speech in school when a child does not speak during an office visit. • Most current treatment programs combine multimodal behavioral interventions and psychopharmacology; however, due to the low incidence rate of the behavior, no large-scale intervention studies have been conducted for either behavioral or pharmacologic interventions. • Behavioral interventions typically address both general anxiety symptoms and the inappropriate communica- tion patterns. Programs typically involve a systematic approach that rewards successive approximations of social interaction and communication. Case study reports include use of video/audio feedword (stimulus fading and self-modeling procedures), web-based cog- nitive-behavioral therapy (CBT) programs emphasizing cognitive coping strategies, and electronic communica- tion devises. School-based interventions typically have included parents, therapists, teachers, and speech and language pathologists as well as using peers to stimulate and reward interaction and communication. • Pharmacology: Over the past 10 years, SM has been increasingly treated with various medications. Case studies have appeared including, phenelzine, fluoxetine (Prozac), and fluvozamine (Luvox) with some success in decreasing both the overall anxiety symptoms and increasing speech. Prozac has been the most frequently investigated medication using high doses for substan- tial periods of time. REFERENCES Selective Mutism Bergman RL, Piacentini J, Mccracken JT. Prevalence and description of selective mutism in a school-based sample. JAm Acad Child Adoles Psychiatry 2002;41:938–946. Dow SP, et al. guidelines for the assessment and treatment of selective mutism. J Am Acad Child Adoles Psychiatry 1995;34:836–846. 179 REACTIVE ATTACHMENT DISORDER John V. Lavigne CLINICAL FEATURES (DSM-IV DIAGNOSTIC CRITERIA) • Reactive attachment disorder is a rare condition in which there is a marked disturbance in social 574 SECTION 20 • BEHAVIORAL AND PSYCHIATRIC DISORDERS CHAPTER 180 • SCHIZOPHRENIA 575 relations, beginning before the age of 5 years, charac- terized by •Failure to initiate or respond in a developmentally appropriate fashion to most social interactions. The child shows one or more of the following: 1. Excessive inhibition 2. Hypervigilance 3. Highly ambivalent or contradictory responses • Indiscriminant sociability (overly familiar with strangers) or marked inability to form an attachment to someone • The presumption that the problems in socialization are associated with abuse or neglect • Epidemiology and etiology: By definition, the pre- sumed etiology is abuse or neglect. Little is known about the epidemiology of this condition. PROGNOSIS • Little substantial information is available concerning prognosis. EVALUATION, MANAGEMENT, TREATMENT • Interviews with caretakers are essential for establish- ing the presence of the key clinical symptoms. Observations of interactions with caregivers can pro- vide critical information about the child’s emotional responsiveness and the quality of caretaking (parental emotional responsiveness, nurturance, attentiveness to the child, synchrony of parent response to the child’s needs). Home visits are often indicated in the assess- ment phase. Investigations designed to determine if abuse or neglect occurred are necessary to establish the diagnosis. • Critical to treatment is the provision of adequate care- taking. Individual therapy for the child and treatment of the parents is often recommended, but few studies are available concerning treatment efficacy for this condition. R EFERENCE Reactive Attachment Disorder Dulcan MK, Martini DR, Lake MB. Reactive attachment disor- der of infancy and early childhood. In Dulcan MK, Martini DR, Lake MB. Concise Guide to Child & Adolescent Psychiatry, 3rd ed. Washington, DC: American Psychiatric Association, 2003, pp. 95–97. 180 SCHIZOPHRENIA Kathleen Mckenna • The onset in young people tends to be insidious with slowly developing prodromal symptoms such as social withdrawal, idiosyncratic thinking, unusual behaviors, declining school performance, lack of initiation of activity, sleep/wake cycle disturbance, and deteriorat- ing personal hygiene. CLINICAL FEATURES (DSM-IV) • Delusions • Hallucinations •Disorganized speech • Grossly disorganized or catatonic behavior •Negative symptoms such as flat affect, lack of initia- tive, paucity of thought or speech • Symptoms must be impairing and last at least 6 months. (If symptoms are present for fewer than 6 months, schizophreniform disorder is diagnosed.) • Symptoms that may suggest psychosis in adults— disorganized speech, odd ideas, excessive fantasy or illogical ideas—must be assessed from a developmen- tal perspective. Many children have communication disorders that result in speech that may be misinter- preted as psychotic. Others have illogical thinking or imaginary friends that are the result of immaturity rather than illness. Often, a decrease in functioning or regression may clarify that an illness, rather than simply a developmental delay, is present. DIFFERENTIAL (PARTIAL) • Schizoaffective disorder • Bipolar disorder • Major depressive disorder • Substance abuse •Paranoid personality disorder •Pervasive developmental disorder • Posttraumatic stress disorder • Metabolic disorders • Obsessive-compulsive disorder • Reaction to medications especially stimulants and those that are anticholinergic •Seizure activity EPIDEMIOLOGY •Males are more likely to have schizophrenia in child- hood or adolescence. Schizophrenia is rare in children before the age of 13 years but is seen with increasing frequency in adolescence. Most people with schizo- phrenia develop symptoms in late adolescence or early adulthood. The prevalence in the population is 1%. PATHOPHYSIOLOGY • Schizophrenia appears to be associated with develop- mental abnormalities occurring during the second trimester of pregnancy. Since the concordance rate for monozygotic twins is increased but not extremely high, there are clearly environmental factors. There are no definitive studies to suggest that excessive stress or adverse family environments are the causes of schizophrenia, although these may worsen the ill- ness and result in a worse outcome. PROGNOSIS • Those who develop schizophrenia before adulthood tend to have a worse outcome, more comorbid condi- tions, and poorer response to medication treatment compared to those with adult-onset schizophrenia. Some, however, respond well to treatment and may be able to live on their own, although most will need sup- port of some kind. Occasionally, schizophrenia has been reported to resolve, although it is not clear whether the diagnosis was correct. TREATMENT • Just as for adults, treatment with neuroleptics is the main- stay of treatment for children and adolescents. The newer, atypical neuroleptics are often chosen since they are pre- sumed to be less likely to cause tardive dyskinesia, a per- manent and impairing movement disorder. Unfortunately, some of these medications seem to be implicated in lipid abnormalities, glucose intolerance, and diabetes. Many cause weight gain and may cause QT lengthening on electrocardiogram (ECG). These medications may also cause dystonias, motor restlessness, and cognitive dulling. Neuroleptics often take weeks to months to treat the psychotic symptoms, although they may decrease agi- tation and improve sleep more quickly. Antidepressants, especially selective serotonin reuptake inhibitors are often added to treat depression of obsessive-compulsive symp- toms. Benzodiazepines may be used to treat anxiety or agitation, especially while waiting for the neuroleptic to work. Excessive restlessness due to neuroleptics may be treated with propranolol and dystonias are often treated with benztropine or diphenhydramine. •Patients who present in the emergency room with symptoms of schizophrenia must have a careful mental status examination. Children with schizophrenia are usually fairly well-oriented. While they may have inco- herent speech, delusional ideas, odd mannerisms, para- noia, and hallucinations, they usually know that they are in the hospital and retain basic orientation regarding family members. Delirium caused by toxic substances or conditions such as a leucodystrophy or encephalitis may be missed if attention is not given to distinguish- ing delirium from psychosis. Likewise, a neurologic examination should be performed to rule out other con- ditions that may be compromising brain function. • Most people with hallucinations due to schizophrenia have auditory hallucinations. The presence of visual hallucinations, especially in absence of auditory hal- lucinations, is often associated with seizure activity, toxic substances, or other brain insults. The same may be said for tactile hallucinations. While people with schizophrenia may have some depression, especially if they have insight into their condition, prominent mood abnormalities suggest the presence of a mood disorder such as depression or bipolar disorder with psychotic features. The treatment will require that the underlying mood disorder be treated if the psychotic symptoms are to resolve. If seizure activity is sus- pected due to visual hallucinations, an absence of other symptoms of schizophrenia, but the electroen- cephalogram (EEG) is normal, consideration should be given to an empirical trial of an anticonvulsant. •Families of children with schizophrenia have the dual challenge of dealing with both the illness as well as the need to foster development in the face of a serious ill- ness. The family’s desire to protect a vulnerable ado- lescent may come into conflict with an adolescent’s desire to be more independent, despite schizophrenia. Sometimes adolescents become discouraged by the ill- ness and may need extra support and education. Therapy may be helpful to deal with these problems, even though it will not treat the underlying schizophre- nia. It should be remembered that the rate of suicide in people with schizophrenia is high. Discouragement, as well as the presence of medication side effects, should be taken seriously. Every effort should be made to edu- cate the young person about the illness and to provide support as the seriousness, and probable chronicity of the illness, is faced by the child and the family. As the child matures, he or she should be encouraged to take a more active role in monitoring symptoms, resolving conflicts and making treatment decisions. • Most schools will need support and information if they are to provide an appropriate educational setting, since schizophrenia is rare in young people. Unfortunately, many of these children are referred to special education settings in which behaviorally disordered children also are present. This often results in an overstimulating and possibly dangerous environment for a child with 576 SECTION 20 • BEHAVIORAL AND PSYCHIATRIC DISORDERS CHAPTER 181 • GENDER IDENTITY DISORDER (GID) 577 problems organizing behavior and processing environ- mental input. Most children with schizophrenia tend to do best in small, nurturing classrooms with calm envi- ronments. Teachers often need help understanding that brain functions such as organizing, attending, monitor- ing behavior, and initiating actions may be impaired and that many problems are not due to the child’s irre- sponsibility or deliberate refusal to carry out tasks. Sometimes it is better to obtain an aide to help the child remain in regular classes rather than place the child in an inappropriate special education setting. REFERENCE Schizophrenia References McClellan J, Werry J, and the Work Group on Quality Issues of the AACAP. Practice Parameters for the Assessment and Treatment of Children and Adolescents with Schizophrenia. J Am Acad Child Adolesc Psychiatry 2001;40: (suppl) 4S–23S. McClennan J, McCurry C, Speltz ML, Jones K. Symptom factors in early-onset psychotic disorder, J Am Acad Child Adolesc Psychiatry 2002;41:791–798. King BH, State MW, Shah B. Mental retardation: a review of the past 10 years: Part I. J. Symptom factors in early-onset psy- chotic disorder. J Am Acad Child Adolesc Psychiatry 2002; 41:1656–1663. 181 GENDER IDENTITY DISORDER (GID) John V. Lavigne CLINICAL FEATURES (DSM DIAGNOSTIC CRITERIA) • Gender identity refers to one’s sense of being male or female, usually formed by the age of 3–4 years. GID has two major characteristics. The first is a “strong and persistent cross-gender identification,” manifested in four or more of the following: 1. Repeatedly stating that he/she wants to be, or is, a member of the opposite sex (genuinely, not merely for some perceived advantage) 2. For boys, a preference to cross dress or “simulate female attire;” for girls, insistence on wearing mas- culine clothing 3. Strong, persistent preference for playing roles of the other sex in fantasy play, or persistent fantasies of being the other sex 4. Strong desire to play the stereotyped games or activities of the other sex 5. Strong preference for other-sex playmates • The second is a persistent sense of being uncomfortable with one’s sex, or a feeling that one’s gender is inap- propriate for one’s self (e.g., preference to not have one’s genitalia, desire to get rid of primary or second- ary sexual characteristics, marked aversion to the cloth- ing typical of one’s sex, and so on) • When present, GID causes social, academic, or occu- pational impairment or distress, and is not due to the presence of a physical intersex condition. Distress may be difficult to ascertain in young children, however. EPIDEMIOLOGY • No studies directly addressing the prevalence of GID have been conducted. Studies of parent reports on their child’s stated preference of wanting to be a member of the opposite sex show such statements are not uncommon (occurring in 1% of boys and 5% of girls), but this overstates the number of children who would actually meet GID criteria. In clinic sam- ples, boys referred for gender problems outnumber girls as much as 7:1 possibly due to greater tolerance for masculine behavior among girls. Referral rates in adolescence is closer to 1.4:1 (boys:girls). ETIOLOGY •Genetic factors, prenatal hormones, and parent-child relationship factors have been hypothesized to be related to gender problems, but definitive studies are lacking. PROGNOSIS • Prospective studies are lacking. Observations among referred children suggest that some seek sex reassign- ment surgeries as adults. Many individuals maintain some social distance from others because of their feel- ings about their gender. ASSESSMENT, MANAGEMENT, AND TREATMENT •Parent interviews can usually elicit any concerns about gender identity or lack of behaviors characteristic of one’s gender role (i.e., stereotypic culturally-based views on what is typical for a particular sex). An inter- view with the child or adolescent can ascertain atti- tudes toward one’s gender, distress, feelings, and preferences. The relative infrequency of the condition has prevented randomized trials from being conducted. Recommended, but largely untested, interventions have included discouragement of cross-gender behav- iors, bolstering of social skills and interactions with same-sex peers, and individual treatment to support the child in dealing with gender-related thoughts and feelings and to reduce any associated dysphoria the child or adolescent experiences. REFERENCE Gender Identity Disorder Bradley SJ, Zucker KJ. Gender identity disorder: a review of the past 10 years. J Am Acad Child Adoles Psychiatry 1997;36:872–880. 182 SUBSTANCE ABUSE DISORDERS Heather J. Walter CLINICAL FEATURES • The substance use disorders encompass both sub- stance abuse and substance dependence, and apply to alcohol, amphetamines, caffeine, cannabis, cocaine, hallucinogens, inhalants, nicotine, opioids, phencycli- dine, and sedatives/hypnotics/anxiolytics. 1. The essential feature of substance abuse is a mal- adaptive pattern of drug use manifested by failure to fulfill major role obligations, recurrent use in physically hazardous situations, and substance- related legal and interpersonal problems. 2. The essential feature of substance dependence is a maladaptive pattern of substance use manifested by tolerance, withdrawal, or compulsive drug- taking behavior. 3. Compared to adults, in adolescents tolerance may have low-diagnostic specificity, withdrawal symp- toms may be less common, and blackouts, craving, and impulsive sexual behavior may be prominent characteristics of maladaptive use. Both abuse and dependence must be associated with clinically sig- nificant distress and impairment, and the symptoms of each must be exhibited within a 12-month period. • The progression to drug abuse or dependence may follow a characteristic pattern beginning with experi- mentation and followed by regular and finally com- pulsive use. • Mood, cognitive, and behavioral signs may appear in the early stages of regular use, and may include impaired concentration; a decline in academic or ath- letic performance; loss of interest in hobbies or extracurricular activities; mood swings; rebellious atti- tude, dress, or behavior; social withdrawal or associa- tion with antisocial peers; and changes in daily routine or sleep patterns. • In the later stages of use, the adolescent may experience marked dysphoria when not using drugs, which can lead to more frequent use with more powerful substances. In the compulsive stage, drug use becomes nearly constant as the adolescent uses any and all substances available and obtains them by whatever means necessary. • Many other psychiatric disorders are comorbid with substance use disorders including conduct, mood, anx- iety, attention deficit hyperactivity, eating, and psy- chotic disorders. EPIDEMIOLOGY • Estimates of the lifetime prevalence of alcohol abuse among adolescents range from less than 1 to 10%, and of alcohol dependence, from 1 to 4%. Estimates of the lifetime prevalence of drug abuse or dependence range from 3 to 10%. The prevalence of abuse and dependence increases with age. ETIOLOGY • The etiology of substance abuse disorders is multifactor- ial, involving biologic, psychologic, social, and cultural factors. In the early stages of use, the easy availability of substances coupled with norms and values that promote experimentation are thought to be the predom- inant etiologic factors. In the later stages of use, bio- logic and psychologic factors may play the more powerful etiologic role. PROGNOSIS •While experimentation with “gateway drugs” such as alcohol and cigarettes is common among adolescents, 578 SECTION 20 • BEHAVIORAL AND PSYCHIATRIC DISORDERS CHAPTER 182 • SUBSTANCE ABUSE DISORDERS 579 only a small proportion of adolescents advance to higher stages of substance use. • Among the minority of adolescents who progress to higher stages, many cease abusing substances in early adulthood, when new roles and social contexts consti- tute conventionalizing influences. • Early initiation of substance use and rapid progression through the stages convey heightened risk for the development of substance use disorders. •Posttreatment relapse rates for substance use disorders are high, ranging from 35 to 85%. Factors associated with relapse include younger age at onset of drug use; more extensive involvement with drugs; antisocial behavior; comorbid psychiatric disorders; more fre- quent and intense thoughts and feelings about drugs; less involvement in school, work, or drug-free recre- ational activities; and less support from drug-free family and peers. EVALUATION, MANAGEMENT, AND TREATMENT • Children and adolescents who manifest impairment in one or more areas of function should be screened for substance use. Interviews with the child, parent, and collateral informants (e.g., teachers, caregivers) are essential for diagnosis. Standardized rating scales can be helpful. Urine and blood toxicology screens may be used to validate self-reports of use. • Comprehensive assessment should include inquiry into the type of drugs used, the route of administra- tion, the age at initiation and frequency of use, and the usual setting. Questions also should assess the adoles- cent’s beliefs about the perceived benefits of drug use, experiences with the negative consequences of drug use, and whether the adolescent believes his/her drug use is out of control. • Assessment also should include the identification and treatment of comorbid psychiatric disorders. In most cases, the treatment of the substance use disorder should precede the treatment of the comorbidities. • In most cases, the goal of treatment will be achieving and maintaining abstinence from substance use; how- ever, harm reduction may be an appropriate interim goal. • At least six theoretically and operationally distinct treat- ment strategies are currently dominant. These include 12-step therapy, cognitive-behavioral therapy, psycho- dynamic therapy, family therapy, group therapy, and community-based therapy. In general, studies of treatment effectiveness have found that some treatment is better than no treatment, no single treatment approach is clearly superior to another, and alcohol and marijuana use are much less effectively treated than other drug use. All treatment programs should develop procedures to minimize dropout; maximize motivation, adherence, and treatment completion; and arrange for aftercare. •Treatment should be provided in the least restrictive setting that is safe and effective. Outpatient treatment is appropriate for motivated adolescents who have strong, stable environmental support, no significant comorbid psychiatric disorders, and little functional impairment. • Appropriate candidates for residential treatment are adolescents who have failed in a less restrictive setting, who are transitioning from inpatient treat- ment, who have poor environmental supports, or who have severe personality disorders or functional impairment. • Inpatient treatment should be considered for adoles- cents who have moderate-to-severe comorbid psychi- atric disturbance with functional impairment, who are at risk for withdrawal, who present a danger to them- selves or others, or who have failed in less restrictive treatment settings. REFERENCES Substance Abuse Disorders American Academy of Child and Adolescent Psychiatry. Practice parameters for the assessment and treatment of children and adolescents with substance use disorders. J Am Acad Child Adolesc Psychiatry (in press). Monti PM, Colby SM, O’Leary TA. Adolescents, and substance abuse: reaching teens through brief interventions. New York, NY: Guilford, 2001. Wagner EF, Waldron HB. Innovations in adolescent substance abuse interventions. Amsterdam: Pergamon, 2001. Walter HJ. Substance abuse and substance use disorders. In: Gabbard G (ed.), Treatments of Psychiatric Disorders, 3rd ed. Washington, DC: American Psychiatric Press, 2001. This page intentionally left blank. Section 21 RHEUMATOLOGIC AND AUTOIMMUNE CONDITIONS 183 RHEUMATOLOGIC EMERGENCIES Marisa S. Klein-Gitelman • Pediatric rheumatology encompasses a wide variety of diseases. The incidence and frequency of true emergencies in pediatric rheumatology are undocu- mented although the presence of these problems is well documented. A general description of problems is listed. THE NERVOUS SYSTEM •Patients with systemic vasculitis, isolated cerebral vas- culitis, and lupus may develop increased intracranial pressure, stroke, hemorrhage, encephalitis, seizure, and transverse myelitis. • The pathophysiologic mechanism depends on the lesion and may be the result of vascular occlusion, antiphos- pholipid antibodies (APLA), disseminated intravascu- lar coagulopathy, or direct cellular damage from autoantibodies. • When an undiagnosed patient presents with an acute central nervous system (CNS) process, the usual sup- portive care measures should be taken. Diagnosis of an autoimmune process occurs only when sought and is essential to disease control and prevention of fur- ther damage. Most patients require aggressive immunosuppression with intravenous corticosteroids and may require cyclophosphamide. • Prognosis depends on early diagnosis and potential for reversal of damage. • Prevention occurs with good control of disease activ- ity in the diagnosed patient. THE CARDIOVASCULAR SYSTEM •Patients with vasculitis, lupus, scleroderma, and sys- temic onset juvenile arthritis frequently present with pericarditis. 1. Diagnosis is made clinically by auscultation of a rub and verified by echocardiography. 2. Treatment is initiated with corticosteroids. Once controlled, indomethacin can be substituted to con- trol inflammation. Patients with large effusions may require drainage until immunosuppression controls serositis. • Another cardiac emergency is coronary artery vas- culitis or occlusion. 1. Occlusion should also be considered in the patient with vasculitis who has been treated with long- term corticosteroids and may have atherosclerosis. 2. Standard treatment for myocardial infarction should be initiated. In the patient with active inflam- mation, immunosuppression is required. • Myocarditis can also be seen in lupus, dermatomyosi- tis, systemic onset arthritis, scleroderma, and overlap syndromes. • Arrhythmias are uncommon and are most often described in neonatal lupus where an infant has com- plete heart block and requires immediate pacing. • Hypertension is frequently seen in patients with glomerulonephritis or renal artery vasculitis. Hyper- tensive crisis is seen in the patient with scleroderma. • Control of blood pressure is essential and often dif- ficult. The use of angiotensin-converting enzyme therapy in the patient with scleroderma has been shown to reduce the risk of hypertensive crisis. THE PULMONARY SYSTEM • The most life-threatening pulmonary emergency is hemorrhage seen in lupus and Wegener granulomatosis. 581 Marisa S. Klein-Gitelman, Section Editor Copyright © 2005 by The McGraw-Hill Companies, Inc. Click here for terms of use. 1. Clinical symptoms are hemoptysis, cough, dyspnea, and hypoxia. 2. Supportive care and immunosuppression are required. 3. Outcomes are often poor. • Pleuritis is a common finding but rarely presents as respiratory distress. 1. Management of severe pleuritis with thoracocente- sis is a rare occurrence. • Pulmonary embolism is a rare complication of vas- culitis or antiphospholipid syndrome but must be con- sidered in the patient with acute chest pain. THE KIDNEY • Acute renal failure is the hallmark of many vasculitis syndromes and lupus. 1. Patients present with pedal edema, malaise, fever, oligouria, hypertension, and electrolyte abnormali- ties. 2. Suspicion of and evaluation for autoimmune dis- ease is essential and must be performed rapidly. 3. Patients often require immunosuppression with steroids and cyclophosphamide. Patients with rap- idly progressive glomerulonephritis or WHO Class IV lupus nephritis often progress to renal failure and require dialysis and transplantation. 4. Prevention of failure requires vigilance and com- pliance in the diagnosed patient. THE GASTROINTESTINAL SYSTEM • The most serious gastrointestinal crisis is intestinal vasculitis with perforation. This can occur in vasculi- tis, dermatomyositis, and lupus. Patients require a combination of immunosuppression and control of peritonitis/sepsis. Prognosis is poor. • Acute liver failure is seen in lupus and autoimmune hepatitis. The patient presents with jaundice and may have cirrhosis. Treatment includes supportive care and immunosuppression. SKIN •Patients can present with bullous lupus skin disease. The bullae may cover all skin surfaces and develop in oral and genital mucosal areas. The patient may require supportive care similar to a burn patient. Infection is a serious complication. Patients are treated with immuno- suppression including corticosteroids, dapsone, aza- thioprine, and thalidomide. HEMATOLOGIC SYSTEM • Lupus patients may develop autoimmune thrombocy- topenia and/or autoimmune hemolytic anemia which may require emergent intervention to prevent bleed- ing or cardiac failure. Support via transfusion may be difficult and increase autoantibody formation. Immunosuppression with corticosteroids or the use of intravenous immunoglobulin (IVIG) is beneficial. In the unresponsive patient, anti-CD20 antibody or rit- uxamab may be required. IMMUNE SYSTEM • Macrophage activation syndrome (MAS), also known as hemophagocytic lymphohistiocytosis, can occur in patients with systemic onset arthritis, and more rarely lupus or other connective tissue diseases. The inability of the immune system to inactivate cytotoxic T cells and macrophages leads to coagulopathy (purpura, bruising, and gum bleeding), fever, encephalopathy, and hepatosplenomegaly. Patients develop leukopenia, thrombocytopenia, hypofibrinogenemia, prolonged prothrombin time/partial thromboplastin time (PT/PTT), hepatitis, and falling erythrocyte sedimen- tation rate (ESR). Immediate recognition and treat- ment with cyclosporine A and corticosteroids prevents poor outcome and death. MISCELLANEOUS • APLAs and the lupus anticoagulant (LAC) may increase risk for arterial or venous thrombosis. A patient may present with acute visual loss, scrotal pain, abdominal pain as well as stroke, myocardial infarction, or pulmonary embolism. The patient with primary APL syndrome remains anticoagulated for years while patients with lupus and secondary APLS may stop anticoagulation with disease control and dis- appearance of APL. INFECTION • The presence of sepsis and other serious infections is a significant problem in the pediatric rheumatology population. Lupus patients, in particular, are at high risk during disease flares with associated leukopenia and hypocomplementemia. Bacteremia may rapidly transform into life-threatening sepsis. Pneumococcal disease is particularly virulent despite vaccination. All 582 SECTION 21 • RHEUMATOLOGIC AND AUTOIMMUNE CONDITIONS CHAPTER 184 • COMMON OFFICE COMPLAINTS 583 patients receiving biologic agents, corticosteroids, methotrexate, leufludomide, azathioprine, cyclo- sporine, FK506, or cyclophosphamide are immuno- suppressed. Any fever without source must be treated as a sepsis evaluation. Small injuries may result in serious soft tissue infections requiring surgical debridement. Patients may develop endocarditis espe- cially if they have hardware for frequent infusions (i.e., portacath). Varicella is particularly serious in this setting and patients who have not had disease or vac- cination should receive vaccination at the first oppor- tunity during a remission. Patients are also at high risk for sexually transmitted diseases and present with dis- seminated infections such as herpes or gonorrhea. BIBLIOGRAPHY Cassidy JT, Petty RE (eds.). Textbook of Pediatric Rheumatology, 4th ed. Philadelphia, PA: W.B. Saunders, 2001. Jacobs J. Pediatric Rheumatology for the Practitioner, 2nd ed. New York, NY: Springer-Verlag, 1993. Mouy R, Stephan JL, Pillet P, Haddad E, Hubert P, Prieur AM. Efficacy of cyclosporine A in the treatment of macrophage activation syndrome in juvenile arthritis: report of five cases. J Pediatr 1996;129:750–754. 184 COMMON OFFICE COMPLAINTS Marisa S. Klein-Gitelman •Patients come to the pediatric rheumatologist for a variety of problems. This section focuses on frequent complaints that do not result in diagnosis of a rheuma- tologic disease. The following complaints are most common: arthralgia, idiopathic musculoskeletal pain, fever, and positive antinuclear antibodies (ANA). ARTHRALGIA • Joint pain without swelling or loss of range of motion is a far more common finding than true arthritis. It is a substantial cause of morbidity and careful evalua- tion, diagnosis and intervention may restore the child to full activity. Frequent problems and disease cate- gories will be reviewed. • The most important diagnoses to consider in the child with arthralgia are infection and malignancy. History and physical examination should include evaluation for fever, pallor, point tenderness, organomegaly, or masses. Suspect history or examination requires labo- ratory and radiographic evaluation. • Generalized hypermobility occurs in approximately one of three children. Prevalence varies with ethnic background. There is often a family history. Diagnosis is based on the Beighton scale of maneuvers. Children complain of intermittent nocturnal pains responsive to an evening dose of acetaminophen or nonsteroidal anti-inflammatory agent. Supportive footwear can reduce pain. Patients are prone to soft tissue injury, back pain, and chondromalacia patella. Exercise pro- grams to improve muscle strength are helpful. Evaluation should exclude diagnosis of Marfan syn- drome, homocystinuria, Stickler syndrome, Ehlers- Danlos syndrome, osteogenesis imperfecta, Williams syndrome, and Down syndrome as these diagnoses require further treatment and intervention. • The most common arthralgia complaint is at the knee. 1. Pain in the anterior aspect of the knee (femoropatel- lar pain) is quite common especially in teenage girls. Movement of the joint is associated with medial patellar pain and crepitation. Patients com- plain of pain with bent knee activities such as walk- ing stairs, running, biking, step aerobics, and deep knee bends. Laboratory tests and radiographs are normal. Therapy includes strengthening muscles around the knee, stretching tight hamstrings, correc- tion of pronated gait with custom orthotics and weight loss in the overweight patient. 2. Another problem is the mediopatellar plica syn- drome causing locking or snapping during move- ment of the joint. Diagnosis and treatment are made by arthroscopy. 3. Osgood-Schlatter disease is a microavulsion fracture of the tibial tuberosity and occurs in athletic adoles- cents. Diagnosis is made by radiograph or ultra- sonography. Treatment is rest and knee protection. •Repetitive stress can cause apophyseal injury in the upper and lower extremity or tenosynovitis. Children are at risk for Little League shoulder, golfer or tennis elbow, shin splints, and other overuse syndromes. Treatment is rest and physiotherapy. • Osteonecrosis is another cause of arthralgia. The most common forms are Legg-Calvé-Perthes disease and Scheuermann disease (spine). •Trauma can produce arthralgia. More common trau- mas include stress fracture, slipped capital femoral epiphysis, osteochondritis dissecans, traumatic hemarthrosis, acute chondrolysis of the hip, physical abuse, frostbite, and congenital indifference to pain. [...]... SERONEGATIVE ENTHESIS RELATED ARTHRITIS (SEA) • The presence of arthritis and enthesitis • The presence of arthritis or enthesitis and two or more of the following criteria: 1 Sacroiliac tenderness or inflammatory spine pain 2 HLA-B27 • Pathogenesis of JAS is unclear Similarities between infection-related arthritis and HLA-B27 disease supports the role of infection as a trigger HLA-B27 gene is either part of... Burgos-Vargas R The juvenile-onset spondyloarthritides Rheum Clin North Am 2002;28:531–560 Cassidy JT, Petty RE (eds.) Textbook of Pediatric Rheumatology, 4th ed Philadelphia, PA: W.B Saunders, 2001 Ilowite NT Current treatment of juvenile rheumatoid arthritis Pediatrics 2002 ;109 :109 –115 Jacobs J Pediatric Rheumatology for the Practioner, 2nd ed New York, NY: Springer-Verlag, 1993 Patel H, Goldstein D Pediatric. .. revealed that >10% of 2–5year-olds, and >15% of 6–19-year-olds in the United States were overweight These findings represented a greater than twofold rise in overweight status compared to similar statistics obtained during the period 1976–1980 The sharpest rise in prevalence of overweight was among non-Hispanic Blacks and MexicanAmerican children Among non-Hispanic Black children of all ages, the prevalence... suggests that early treatment of patients at risk for kidney disease may decrease the severity, and perhaps, the presence of kidney disease This literature is controversial and there are no specific recommendations There is some suggestion that urinary metabolites, N-acetyl-[beta]-D-glucosaminidase (NAG) and [alpha ]-1 -microglobulin may be able to predict risk of renal disease If this suggestion is... pain, and nonthrombocyopenic purpuric rash below the waist line Either of these features may precede the others 1 The rash consists of palpable purpura and petechiae The patient frequently has peripheral edema of the feet and hands Scrotal edema is seen in boys Forehead and periorbital edema and rash over the upper body is frequent in younger children 2 The arthritis is transient but painful Affected... malnutrition (Table 19 0-2 ) Therefore, during the first weeks of therapy caloric intake should be gradually advanced with judicious monitoring and replenishment of electrolytes OUTCOMES • Catch-up growth in children with NOFTT appears to be greatest among those who receive intensive social or psychologic intervention, therefore the need for a multidisciplinary approach and long-term follow-up; however, regardless... (eds.) Textbook of Pediatric Rheumatology Philadelphia, PA: W.B Saunders, 2001 Jacobs J Pediatric Rheumatology for the Practitioner New York, NY: Springer-Verlag, 1993 Klein-Gitelman MS, Miller ML Systemic Lupus Erythematosus, In Miller ML (ed.) Nelson’s Textbook of Pediatrics, 17th ed Philadelphia, PA: W.B Saunders, 2003, pp 809–813 Klein-Gitelman MS, Reiff A, Silverman E Systemic lupus erythematosus in... anticoagulant • Other laboratory abnormalities include hypocomplementemia, the most important measure of disease activity or immune complex formation (total hemolytic complement, C3, C4), anti-RNP (ribonuclear protein) antibody in association with anti-Smith antibody, Sjogren antibodies (anti-SSA and anti-SSB antibodies), and hypergammaglobulinemia DIAGNOSIS • The diagnosis is supported by the presence... interpretation of weight and height gain in females >8–9 years, and males >12–13 years • The next step is to compare actual weight with the ideal body weight (IBW) The IBW is the median weight (50th percentile) for the measured length/height The actual weight and IBW are then expressed as a percentage, and variation of 10% is considered within normal A percentage of 80–90% actual/IBW corresponds to mild... important disease marker HLA-B27 is not necessary for this disease to unfold in a particular patient The importance of HLA-B27 in the host immune response to infection is CHAPTER 185 • JUVENILE IDIOPATHIC ARTHRITIS (JIA) being studied in a transgenic rat model Clinical observations of the association between gut inflammation and JAS are supportive of the importance of HLA-B27 and cellular immune responses . distinct treat- ment strategies are currently dominant. These include 12-step therapy, cognitive-behavioral therapy, psycho- dynamic therapy, family therapy, group therapy, and community-based therapy of the other sex in fantasy play, or persistent fantasies of being the other sex 4. Strong desire to play the stereotyped games or activities of the other sex 5. Strong preference for other-sex. dif- ficult. The use of angiotensin-converting enzyme therapy in the patient with scleroderma has been shown to reduce the risk of hypertensive crisis. THE PULMONARY SYSTEM • The most life-threatening