Pediatric Just The Facts - part 10 pps

Upper extrem-ity arthritis is more unusual wrist or phalangealjoints, and is associated with a higher risk for pro-gression into polyarticular disease.. Differential Diagnosis • Kawasaki

• 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 notspeak during an office visit

• Most current treatment programs combine multimodalbehavioral interventions and psychopharmacology;however, due to the low incidence rate of the behavior,

no large-scale intervention studies have been conductedfor either behavioral or pharmacologic interventions

• Behavioral interventions typically address both generalanxiety symptoms and the inappropriate communica-tion patterns Programs typically involve a systematicapproach that rewards successive approximations ofsocial interaction and communication Case studyreports include use of video/audio feedword (stimulusfading and self-modeling procedures), web-based cog-nitive-behavioral therapy (CBT) programs emphasizingcognitive coping strategies, and electronic communica-tion devises School-based interventions typically haveincluded parents, therapists, teachers, and speech andlanguage pathologists as well as using peers to stimulateand reward interaction and communication

• Pharmacology: Over the past 10 years, SM has beenincreasingly treated with various medications Casestudies have appeared including, phenelzine, fluoxetine(Prozac), and fluvozamine (Luvox) with some success

in decreasing both the overall anxiety symptoms andincreasing speech Prozac has been the most frequentlyinvestigated medication using high doses for substan-tial periods of time

Selective Mutism

Bergman RL, Piacentini J, Mccracken JT Prevalence and

description of selective mutism in a school-based sample J Am

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

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

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

CLINICAL FEATURES (DSM-IV)

• Delusions

• Hallucinations

• Disorganized speech

• Grossly disorganized or catatonic behavior

• Negative symptoms such as flat affect, lack of tive, paucity of thought or speech

initia-• 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 orillogical ideas—must be assessed from a developmen-tal perspective Many children have communicationdisorders that result in speech that may be misinter-preted as psychotic Others have illogical thinking orimaginary friends that are the result of immaturityrather than illness Often, a decrease in functioning orregression may clarify that an illness, rather thansimply a developmental delay, is present

• Paranoid personality disorder

• Pervasive developmental disorder

• Posttraumatic stress disorder

child-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 areusually fairly well-oriented While they may have inco-herent speech, delusional ideas, odd mannerisms, para-noia, and hallucinations, they usually know that theyare in the hospital and retain basic orientation regardingfamily members Delirium caused by toxic substances

or conditions such as a leucodystrophy or encephalitismay be missed if attention is not given to distinguish-ing delirium from psychosis Likewise, a neurologicexamination should be performed to rule out other con-ditions that may be compromising brain function

• Most people with hallucinations due to schizophreniahave auditory hallucinations The presence of visualhallucinations, 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 withschizophrenia may have some depression, especially

if they have insight into their condition, prominentmood abnormalities suggest the presence of a mooddisorder such as depression or bipolar disorder withpsychotic features The treatment will require that theunderlying mood disorder be treated if the psychoticsymptoms are to resolve If seizure activity is sus-pected due to visual hallucinations, an absence ofother 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 dualchallenge of dealing with both the illness as well as theneed 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’sdesire 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 inpeople with schizophrenia is high Discouragement, aswell as the presence of medication side effects, should

be taken seriously Every effort should be made to cate the young person about the illness and to providesupport as the seriousness, and probable chronicity ofthe illness, is faced by the child and the family As thechild matures, he or she should be encouraged to take amore active role in monitoring symptoms, resolvingconflicts and making treatment decisions

edu-• Most schools will need support and information if theyare to provide an appropriate educational setting, sinceschizophrenia is rare in young people Unfortunately,many of these children are referred to special educationsettings in which behaviorally disordered children alsoare present This often results in an overstimulating andpossibly dangerous environment for a child with

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 initiatmonitor-ing 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

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;

• 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 ofthe other sex in fantasy play, or persistent fantasies

of being the other sex

4 Strong desire to play the stereotyped games oractivities of the other sex

5 Strong preference for other-sex playmates

• The second is a persistent sense of being uncomfortablewith one’s sex, or a feeling that one’s gender is inap-propriate for one’s self (e.g., preference to not haveone’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 pational impairment or distress, and is not due to thepresence of a physical intersex condition Distress may

occu-be difficult to ascertain in young children, however

EPIDEMIOLOGY

• No studies directly addressing the prevalence of GIDhave been conducted Studies of parent reports ontheir child’s stated preference of wanting to be amember of the opposite sex show such statementsare not uncommon (occurring in 1% of boys and 5%

of girls), but this overstates the number of childrenwho would actually meet GID criteria In clinic sam-ples, boys referred for gender problems outnumbergirls as much as 7:1 possibly due to greater tolerancefor masculine behavior among girls Referral rates inadolescence is closer to 1.4:1 (boys:girls)

ASSESSMENT, MANAGEMENT,AND TREATMENT

• Parent interviews can usually elicit any concerns aboutgender identity or lack of behaviors characteristic ofone’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

Gender Identity Disorder

Bradley SJ, Zucker KJ Gender identity disorder: a review of the

past 10 years J Am Acad Child Adoles Psychiatry

• The substance use disorders encompass both

sub-stance abuse and subsub-stance 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 nificant distress and impairment, and the symptoms

sig-of each must be exhibited within a 12-monthperiod

• The progression to drug abuse or dependence mayfollow a characteristic pattern beginning with experi-mentation and followed by regular and finally com-pulsive use

• Mood, cognitive, and behavioral signs may appear inthe early stages of regular use, and may includeimpaired concentration; a decline in academic or ath-letic performance; loss of interest in hobbies orextracurricular activities; mood swings; rebellious atti-tude, dress, or behavior; social withdrawal or associa-tion with antisocial peers; and changes in daily routine

ETIOLOGY

• The etiology of substance abuse disorders is ial, involving biologic, psychologic, social, and culturalfactors In the early stages of use, the easy availability

multifactor-of substances coupled with norms and values thatpromote experimentation are thought to be the predom-inant etiologic factors In the later stages of use, bio-logic and psychologic factors may play the morepowerful etiologic role

PROGNOSIS

• While experimentation with “gateway drugs” such asalcohol and cigarettes is common among adolescents,

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, dynamic therapy, family therapy, group therapy, andcommunity-based therapy In general, studies oftreatment effectiveness have found that some treatment

psycho-is better than no treatment, no single treatment approach

is clearly superior to another, and alcohol and marijuanause are much less effectively treated than other drug use.All treatment programs should develop procedures tominimize dropout; maximize motivation, adherence,and treatment completion; and arrange for aftercare

• Treatment should be provided in the least restrictivesetting that is safe and effective Outpatient treatment

is appropriate for motivated adolescents who havestrong, stable environmental support, no significantcomorbid psychiatric disorders, and little functionalimpairment

• Appropriate candidates for residential treatment areadolescents who have failed in a less restrictivesetting, who are transitioning from inpatient treat-ment, who have poor environmental supports, orwho have severe personality disorders or functionalimpairment

• Inpatient treatment should be considered for cents who have moderate-to-severe comorbid psychi-atric disturbance with functional impairment, who are

adoles-at risk for withdrawal, who present a danger to selves or others, or who have failed in less restrictivetreatment settings

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.

• 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 celluintravascu-lar 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 temic onset juvenile arthritis frequently present withpericarditis

sys-1 Diagnosis is made clinically by auscultation of arub and verified by echocardiography

2 Treatment is initiated with corticosteroids Oncecontrolled, indomethacin can be substituted to con-trol inflammation Patients with large effusions mayrequire drainage until immunosuppression controlsserositis

• Another cardiac emergency is coronary artery culitis or occlusion

vas-1 Occlusion should also be considered in the patientwith vasculitis who has been treated with long-term corticosteroids and may have atherosclerosis

2 Standard treatment for myocardial infarctionshould be initiated In the patient with active inflam-mation, immunosuppression is required

• Myocarditis can also be seen in lupus, tis, systemic onset arthritis, scleroderma, and overlapsyndromes

dermatomyosi-• Arrhythmias are uncommon and are most oftendescribed in neonatal lupus where an infant has com-plete heart block and requires immediate pacing

• Hypertension is frequently seen in patients withglomerulonephritis or renal artery vasculitis Hyper-tensive crisis is seen in the patient with scleroderma

• Control of blood pressure is essential and often ficult The use of angiotensin-converting enzymetherapy in the patient with scleroderma has beenshown to reduce the risk of hypertensive crisis

dif-THE PULMONARY SYSTEM

• The most life-threatening pulmonary emergency ishemorrhage 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, dermatomyosivasculi-tis, 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 topenia and/or autoimmune hemolytic anemia whichmay require emergent intervention to prevent bleed-ing or cardiac failure Support via transfusion may bedifficult and increase autoantibody formation.Immunosuppression with corticosteroids or the use ofintravenous immunoglobulin (IVIG) is beneficial Inthe unresponsive patient, anti-CD20 antibody or rit-uxamab may be required

thrombocy-IMMUNE SYSTEM

• Macrophage activation syndrome (MAS), also known

as hemophagocytic lymphohistiocytosis, can occur inpatients with systemic onset arthritis, and more rarelylupus or other connective tissue diseases The inability

of the immune system to inactivate cytotoxic T cellsand macrophages leads to coagulopathy (purpura,bruising, and gum bleeding), fever, encephalopathy,and hepatosplenomegaly Patients develop leukopenia,thrombocytopenia, hypofibrinogenemia, prolongedprothrombin time/partial thromboplastin time(PT/PTT), hepatitis, and falling erythrocyte sedimen-tation rate (ESR) Immediate recognition and treat-ment with cyclosporine A and corticosteroids preventspoor outcome and death

MISCELLANEOUS

• APLAs and the lupus anticoagulant (LAC) mayincrease risk for arterial or venous thrombosis Apatient may present with acute visual loss, scrotalpain, abdominal pain as well as stroke, myocardialinfarction, or pulmonary embolism The patient withprimary APL syndrome remains anticoagulated foryears while patients with lupus and secondary APLSmay 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 rheumatologypopulation Lupus patients, in particular, are at highrisk during disease flares with associated leukopeniaand hypocomplementemia Bacteremia may rapidlytransform into life-threatening sepsis Pneumococcaldisease is particularly virulent despite vaccination All

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 vacvac-cination 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

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.

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 childwith arthralgia are infection and malignancy Historyand physical examination should include evaluationfor fever, pallor, point tenderness, organomegaly, ormasses Suspect history or examination requires labo-ratory and radiographic evaluation

• Generalized hypermobility occurs in approximatelyone of three children Prevalence varies with ethnicbackground There is often a family history Diagnosis

is based on the Beighton scale of maneuvers Childrencomplain of intermittent nocturnal pains responsive to

an evening dose of acetaminophen or nonsteroidalanti-inflammatory agent Supportive footwear canreduce 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, Williamssyndrome, and Down syndrome as these diagnosesrequire further treatment and intervention

• The most common arthralgia complaint is at the knee

1 Pain in the anterior aspect of the knee lar pain) is quite common especially in teenagegirls Movement of the joint is associated withmedial patellar pain and crepitation Patients com-plain of pain with bent knee activities such as walk-ing stairs, running, biking, step aerobics, and deepknee bends Laboratory tests and radiographs arenormal Therapy includes strengthening musclesaround the knee, stretching tight hamstrings, correc-tion of pronated gait with custom orthotics andweight loss in the overweight patient

(femoropatel-2 Another problem is the mediopatellar plica drome causing locking or snapping during move-ment of the joint Diagnosis and treatment aremade by arthroscopy

syn-3 Osgood-Schlatter disease is a microavulsion fracture

of the tibial tuberosity and occurs in athletic cents Diagnosis is made by radiograph or ultra-sonography Treatment is rest and knee protection

adoles-• Repetitive stress can cause apophyseal injury in theupper 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 mostcommon forms are Legg-Calvé-Perthes disease andScheuermann disease (spine)

• Trauma can produce arthralgia More common mas include stress fracture, slipped capital femoralepiphysis, osteochondritis dissecans, traumatichemarthrosis, acute chondrolysis of the hip, physicalabuse, frostbite, and congenital indifference to pain

trau-• There are many diseases that have musculoskeletal

symptoms including cartilage and bone dysplasias,

connective tissue disorders, nutritional abnormalities,

metabolic diseases, endocrinopathies, hematologic

disorders, cystic fibrosis, storage diseases, primary

bone, muscle and synovial tumors, and metastatic

dis-ease

IDIOPATHIC MUSCULOSKELETAL

PAIN SYNDROMES

• The incidence and prevalence of idiopathic pain in

schoolchildren is very frequent Back pain occurs in

20% of children, limb pain in 16%, and fibromyalgia

in 6% Patients with pain represent 5–8% of new

patients in pediatric rheumatology clinics

• Mean age of onset is 12–13 years with female

pre-dominance (4:1) All reports of pain patients are from

developed countries

• Etiopathogenesis is unknown Pediatric patients are

different from adults and more readily respond to

exercise therapy Symptoms appear to be causally

related to illness, injury, and/or psychologic distress

There is often a role model for chronic pain or

dis-ability Interdependency or enmeshment between

parent(s) and child is striking

• Clinical manifestations: Pain may be diffuse or

local-ized and associated with a minor trauma Symptoms

of depression and/or poor sleep are usual Conversion

symptoms are frequent as well as eating disorders

Careful examination is devoid of findings of

underly-ing disease Peripheral nervous system findunderly-ings may

include allodynia, coolness, and cyanosis Specific

history of prolonged back pain can be due to a serious

problem and should be investigated further

• Differential diagnosis includes seronegative

enthe-sopathy syndrome, trauma, mechanical pain, arthritis,

and neoplasia There are no specific laboratory

find-ings and testing should not be performed unless there

is significant concern about a separate diagnosis

• Treatment: Most rheumatologists prescribe an

aggressive exercise program to improve function and

well-being Patients with sleep disorders often

bene-fit from low-dose tricyclics Depression should be

treated with a serotonin reuptake inhibitor Allodynia

is treated with desensitization using a towel or a

bucket of rice or dried beans Interventions such a

sympathetic block, transcutaneous electrical nerve

stimulators (TENS) units, and analgesics do not

improve outcome

• Prognosis is variable with frequent relapses The above

treatment plan has had improved outcome with 90% of

patients remaining fully active

FEVER

• Patients are frequently referred to the rheumatologistafter initial evaluation of fever has not revealed a spe-cific diagnosis The use of a fever diary is very help-ful in determining the cause of fever A daily spikingfever may be consistent with systemic onset arthritis

or malaria Persistent fever is seen in lupus and culitis and also in inflammatory bowel disease, neo-plasia, chronic infection, and acute rheumatic diseasessuch as Kawasaki disease Cyclic fever syndromesinclude FAPA (periodic fever, aphthous stomatitis,pharyngitis, adenitis) syndrome, hyper IgD, andFamilial Mediterranean Fever Finally, the patient mayhave daily temperatures below 100.5°F which thefamily may have misinterpreted as fever Patients withfever deserve a complete evaluation to find an under-lying diagnosis including laboratory and radiographicevaluations If no source is isolated, fever can be con-trolled with nonsteroidal anti-inflammatories and thepatient is closely observed Ultimately, the feverresolves or the source of fever becomes clear

vas-POSITIVE ANA

• Patients are referred to the pediatric rheumatologyoffice for the presence of positive ANA The patientsmay have had an evaluation for musculoskeletal com-plaints or an unusual rash and laboratory testingreveals a positive ANA result Approximately 2% ofthe general population has a positive ANA The fre-quency is higher in relatives of patients with autoim-mune disease; a situation where greater anxiety exists

at the onset of a child’s musculoskeletal symptoms.ANA alone is not a diagnostic test Patients whopresent with a positive ANA and no other physical orlaboratory evidence of rheumatologic disease, havelittle risk for developing a rheumatologic disease Ifthe patient has other symptoms such as Raynaud phe-nomenon, the risk increases Many patients have highanxiety about an abnormal laboratory value ANAtesting should occur in the setting of other clear signs

or symptoms of rheumatologic disease

Cassidy JT, Petty RE (eds.), Textbook of Pediatric Rheumatology,

4th ed Philadelphia, PA: W.B Saunders, 2001.

Gedalia A Familial Mediterranean Fever In: Miller ML (ed.),

Nelson Textbook of Pediatrics, 17th ed Philadelphia, PA:

W.B Saunders, 2003, pp 821–822.

CHAPTER 185 • JUVENILE IDIOPATHIC ARTHRITIS (JIA) 585

Jacobs J Pediatric Rheumatology for the Practitioner, 2nd ed.

New York, NY: Springer-Verlag, 1993.

Miller ML Musculoskeletal Pain Syndromes, In Miller ML (ed.)

Nelson’s Textbook of Pediatrics, 17th ed Philadelphia, PA:

W.B Saunders, 2003, pp 831–832.

Sherry DD, Malleson PN The idiopathic musculoskeletal

pain syndromes in childhood Rheum Dis Clin North Am

• Onset of a swollen joint or loss of normal range of

motion with pain before 16 years

• Persistence of one or more arthritic joints for greater

than 6 weeks Subtype assigned after 6 months’

dis-ease duration unless onset is systemic

S UBTYPES

• Pauciarticular

1 Four joints or less

2 Each joint counted separately except cervical

spine, carpus, and tarsus

• Polyarticular

1 Five joints or more

2 Each joint counted separately with the exceptions

as above

• Systemic onset

1 Daily fever >39°C for at least 2 weeks and

arthri-tis in one or more joints

2 Patients have extraarticular disease such as

evanes-cent salmon pink rash

• Highest incidence occurs between ages 1–3 years in

the pauciarticular onset group

• Onset before age 6 months is very rare

• Female to male ratio varies with disease subtype:

pau-ciarticular 3:1, paupau-ciarticular with uveitis 5–6.6:1,

polyarticular 2.8:1, and systemic onset 1:1

PATHOPHYSIOLOGY

• The pathophysiology of JIA remains unclear Thereappears to be multiple etiologic sources includinggenetic traits and environmental agents Currenttheory suggests that disease onset is a function of spe-cific infectious agents in an individual with the appro-priate genetic predisposition No specific infectiousagent has been isolated to date; however, some spe-cific genetic predispositions have been defined Theautoimmune nature of the disease is based on patho-logic changes within chronically inflamed synoviumand humoral abnormalities such as autoantibodies,immune complexes, complement activation, andcytokinemia The presence of the different subtypessuggests that genetic predisposition is multifactorial.This is supported by unclear inheritance patterns anddifferent human leukocyte antigen (HLA) distribu-tions in each subtype category

P AUCIARTICULAR ( OR O LIGOARTICULAR )

Clinical

• The child with pauciarticular JIA usually presentswith a swollen, warm joint that is not painful, red, ortender Patients have morning stiffness and gellingafter naps or inactivity Median age at onset is 2 yearswith female predominance The affected joint is mostcommonly in the lower extremity: knee > ankle >elbow The hip is almost always spared Upper extrem-ity arthritis is more unusual (wrist or phalangealjoints), and is associated with a higher risk for pro-gression into polyarticular disease Laboratory abnor-malities may include an elevated erythrocytesedimentation rate (ESR) and a positive ANA (anti-nuclear antibody) There are no diagnostic laboratorytests; however, the presence of ANA is associated withincreased risk for uveitis

Uveitis

• Although uveitis can occur in any type of JIA, it isfound frequently in the child with pauciarticular dis-ease and is rare in other forms of JIA

• Frequency varies between 25 and 40% and is higher

in children with a positive ANA

Clinical

• The disease is an asymptomatic, most often bilateralchronic inflammation of the anterior chamber of theeye Detection of uveitis before arthritis is unusualand often is associated with more severe disease Half

of the diagnoses are made at the time arthritispresents Mostly uveitis presents within 5–7 yearsafter arthritis is diagnosed; however, the risk of uveitis

is never absent and it does not parallel the course ofarthritis

• The diagnosis is made by slit lamp biomicroscopy

Children diagnosed with pauciarticular JIA should

have slit lamp examinations every 3 months for the

next 2 years after diagnosis, every 4–6 months for the

next 7 years, and annually thereafter Children with a

positive ANA should be screened more frequently

Differential Diagnosis

• Kawasaki disease, juvenile ankylosing spondylitis,

psoriatic arthritis, inflammatory bowel disease,

reac-tive arthritis, sarcoidosis, Blau disease, Behcet

dis-ease, and Vogt-Koyanagi-Harada disease If a child

with arthritis and uveitis presents with a posterior

uveitis, consider sarcoidosis rather than JIA

Treatment

• Initiated with corticosteroid eye drops and a nighttime

mydriatic if needed Anti-inflammatory medications

used to treat arthritis may be of benefit to uveitis and

changes in treatment should be a consideration in the

disease course of uveitis Eye disease unresponsive to

topical therapy is treated with oral corticosteroids,

methotrexate, or other immunosuppressive

medica-tions The course of uveitis does not mirror the course

of arthritis and may flare or occur when arthritis is in

remission

Prognosis

• In the past, loss of vision occurred in 15–30% of

chil-dren This has improved with earlier diagnosis and

treatment and, perhaps, with more aggressive

treat-ment Prognostic factors include disease severity and

chronicity at presentation Prognosis is worse for the

child whose uveitis precedes arthritis as the patient

usu-ally presents to the ophthalmologist with complaints of

visual changes Outcome for 25% of children is

excel-lent, 50% have a fair course, and 25% do poorly with

complications of vision loss, cataract, or glaucoma

Prevention

• Frequent screening eye examination as detailed above

DIFFERENTIAL DIAGNOSIS

• The diagnosis of JIA requires that other potential

causes of arthritis have been considered and not

found The most important diseases to consider are

infection, tumor (especially leukemia and

neuroblas-toma), acute rheumatic diseases, Lyme disease, and

hemophilia although there are many genetic,

endocrinologic, and metabolic causes of abnormal

joints that may also be considered In the child who

presents with arthritis for less than 72 hours, consider

septic arthritis and osteomyelitis and reactive arthritis

first Trauma including hemarthrosis, osteochondritis

dissecans, fracture, and discoid meniscus are possible

In the child with long-standing arthritis, tuberculousinfection, osteomyelitis, sarcoid, and villonodularsynovitis should be considered

TREATMENT

• JIA is always managed with a combination of ication and physical and/or occupational therapy.Although medication will control inflammation, manychildren develop contractures that will not improvewithout therapy Thus, children receive nonsteroidalanti-inflammatory drugs (NSAIDs) daily with closemonitoring to prevent gastritis and other adverse reac-tions and an exercise program to improve strength andfunction There is potential for growth abnormalitiesdue to inflammation often represented as overgrowthboth in bone length and joint circumference This isparticularly important in the child with asymmetriclower extremity disease Bone overgrowth is con-trolled with medication; however, leg length discrep-ancies need to be addressed with shoe inserts or lifts

med-to prevent scoliosis and worsen flexion contractures.For the child who does not respond to NSAIDs, thephysician may consider intraarticular corticosteroid,sulfasalazine, and methotrexate Rarely, other im-munosuppressive therapy including biologic agents isrequired

PROGNOSIS

• The prognosis for pauciarticular JIA is variable Manychildren have disease for a median of 2 years andremit Some of these patients may have disease flaresyears after initial remission Another small group ofchildren (5–10%) will progress to polyarticular dis-ease after a pauciarticular course of 1–2 years and willhave a more guarded prognosis for joint health

PREVENTION

• Outcome is improved by treatment compliance cise and medication) and aggressive therapy whenneeded Bone health is supported by sufficient dietarycalcium and vitamin D

(exer-P OLYARTICULAR JIA

Clinical

• The child with polyarticular JIA presents to the cian with five or more joints affected by arthritiswithin the first 6 months of disease Onset is usually

clini-CHAPTER 185 • JUVENILE IDIOPATHIC ARTHRITIS (JIA) 587

insidious and progressive although acute disease

pre-sentations occur The patient has significant morning

stiffness and gelling after inactivity The pattern of

arthritis tends to be symmetrical affecting large and

small joints including the cervical spine and

temporo-mandibular joints Proximal phalangeal joints are

more often involved than distal joints This disease

has a considerable female predominance The most

important factor associated with progression and

out-come is the presence of rheumatoid factor (RF)

Children without RF have a median age onset of 3

years RF positive children have a median age onset of

12 years and represent early onset rheumatoid

arthri-tis often presenting with rheumatoid nodules and bone

erosions Children with polyarticular JIA may present

with mild systemic features including low-grade

fever, hepatosplenomegaly, adenopathy, and

peri-carditis The risk of uveitis is low With the exception

of the prognostic value of RF, laboratory tests are

non-diagnostic Patients may have positive ANA, high

ESR or C-reactive protein (CRP), anemia, and

throm-bocytosis

Differential Diagnosis

• The diagnosis of polyarticular JIA can only be made

when other diagnoses are considered and no evidence

is found Important in the differential is neoplasia,

acute rheumatic diseases, reactive arthritis, Lyme

dis-ease, sarcoidosis, spondyloarthropathies, systemic

lupus erythematosus, autoimmune overlap syndromes,

vasculitis, and genetic and metabolic syndromes such

as mucopolysaccharidoses In this setting, infection is

less likely but must be considered

Treatment

• Treatment of polyarticular JIA is usually initiated

with NSAIDs Patients with disease that prevents

daily function such as school attendance due to

pro-found stiffness and pain are treated more

aggres-sively Treatment options include methotrexate,

biologic agents, leufludomide, sulfasalazine,

hydroxychloroquine, oral, intraarticular, or

intra-venous corticosteroids, and other

immunosuppres-sive agents The availability of tumor necrosis factor

(TNF) inhibitors has dramatically improved

func-tion for more severe patients and will hopefully

improve disease outcomes Experimental therapies

such as stem-cell transplantation are considered in

patients who failed other therapies Patients with

polyarticular JIA must also receive physical and

occupational therapy to improve strength, range of

motion, and ability to perform activities of daily

living Patients may require splints to prevent

7 years are particularly poor prognostic signs

Prevention

• Early diagnosis and aggressive management of severedisease are helpful in preventing disease severity anddisability Sufficient calcium and vitamin D aid inpromoting bone and joint health Compliance withmedication and therapy are critical to successful treat-ment and prevention of growth disturbances anddeformity

S YSTEMIC O NSET Clinical

• As defined, systemic JIA presents with fever andarthritis Systemic features may occur weeks to yearsbefore the presence of arthritis; however classical thefever and rash are, a diagnosis cannot be made with-out arthritis The fever often spikes in the late evening

or early morning The evanescent salmon pink rash ismore often visible during fever, may be pruritic, andmay be elicited by rubbing or scratching (Koebnerphenomenon) The arthritis is pauciarticular orpolyarticular There is morning stiffness and gelling.Other manifestations include hepatosplenomegaly,adenopathy, pericarditis, pleuritis, and myalgia.Laboratory abnormalities include leukocytosis,thrombocytosis, anemia, and high ESR or CRP.Patients may have a coagulopathy (prolonged D-dimer) and elevated liver enzymes A rare but seriousand acute complication is macrophage activation syn-drome (MAS) or hematophagocytic lymphohistiocy-tosis (HLH) MAS is a consequence of the inability toturn off cytotoxic T cells and macrophages Thepatient presents with a persisting fever and rapiddevelopment of coagulopathy associated with purpura,bruising and bleeding, hepatosplenomegaly, en-cephalopathy, and less frequently acute renal failure,cardiomyopathy, or pulmonary disease Laboratorystudies reveal a falling ESR, leucopenia, thrombocy-topenia, consumptive coagulopathy, and hepatitis.MAS can also occur with lupus, infection (especiallyEpstein-Barr virus [EBV] and varicella-zoster virus[VZV]), and malignancy

Differential Diagnosis

• The differential diagnosis in the child who presents withpersisting fever must include infection, particularlysepsis and endocarditis but also viral syndromes

(mononucleosis) Acute rheumatic diseases such as

acute rheumatic fever, Kawasaki disease, and familial

Mediterranean fever must also be considered

Kawasaki disease may be difficult to distinguish

Inflammatory bowel disease, cyclic fever syndromes,

chronic rheumatic diseases (lupus, vasculitis, and

der-matomyositis), malignancy, and Castleman disease

are important considerations

Treatment

• The child with symptoms of systemic onset arthritis

has NSAID therapy initiated while evaluation to

sub-stantiate the diagnosis progresses Patients often

develop subnormal temperatures as fever control

occurs A portion of children will respond to NSAID

therapy alone while the majority requires IV and/or

oral corticosteroids to obtain disease control Patients

may require intraarticular steroid therapy,

methotrex-ate, or tumor necrosis factor (TNF) inhibitors Other

treatments include cyclosporin A, leufludomide,

aza-thioprine, or cyclophosphamide For the patient with

treatment-resistant disease, experimental therapies

such as thalidomide or stem cell transplantation can

be considered Physical and occupational therapy are

critical to resolve flexion contractures and maintain

strength and flexibility

Prognosis

• The child with pauciarticular joint distribution is

likely to have a remitting disease course while the

child with polyarticular disease may have a remitting

course with joint damage or a destructive, persisting

disease course (25%)

Prevention

• Early diagnosis and aggressive therapy improve

out-come Compliance with medication and therapy

improve pain, function, and prevents deformities

Control of inflammation will prevent growth

distur-bances and prevent deformities Sufficient calcium

and vitamin D in the diet will help maintain bone

health and is important for the child requiring steroid

• 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 Presence of systemic arthritis

J UVENILE A NKYLOSING S PONDYLITIS (JAS)

• Clinical criteria (New York)

1 Limitation of lumbosacral motion in all threeplanes

2 Pain or history of pain at the lumbar spine

3 Limited chest expansion at the fourth intercostalsspace (<2.5 cm)

• Criteria: Sacroiliac sclerosis

is either part of pathogenesis or an important diseasemarker HLA-B27 is not necessary for this disease tounfold in a particular patient The importance ofHLA-B27 in the host immune response to infection is

CHAPTER 185 • JUVENILE IDIOPATHIC ARTHRITIS (JIA) 589

being studied in a transgenic rat model Clinical

observations of the association between gut

inflam-mation and JAS are supportive of the importance of

HLA-B27 and cellular immune responses

Spondylo-arthropathy is the pattern of arthritis seen in

inflam-matory bowel disease

CLINICAL

• Patients with spondyloarthropathies present with pain

at the heels, buttock, thighs, and shoulders Most

patients have lower extremity findings True complaints

of low back pain occur in about a quarter of patients at

onset Sacroiliac involvement occurs in most patients

over time along with lumbosacral spine disease Half of

the patients have four or less arthritic joints and half

have five or more arthritic joints Enthesitis is an early

and distinguishing clinical symptom The most

fre-quently affected areas are the heel, foot, ankle, and

knee The pain and disability from enthesitis is a

diffi-cult problem for the child with spondyloarthropathy

Iritis associated with spondyloarthropathy in contrast to

JIA is acute, painful, and photophobic It is usually

uni-lateral and resolves without scarring although there are

recurrences In pediatric spondyloarthropathies,

cardio-vascular disease is rare and involves aortic valve or

aortic root abnormalities

DIAGNOSIS

• Diagnosis criteria are outlined in their definitions

Careful examination of entheses, especially the

Achilles, plantar fascia, patella, and tibial tuberosity

demonstrates discrete painful points The presence of

arthritis at the first metatarsophalangeal joint,

inter-tarsal joint, ankle, or knee is supportive evidence of

the diagnosis Examination of the axial skeleton

should include palpation of sacroiliac joint for

tender-ness and evaluation of forward lumbar spine

expan-sion by Schober measurement There is no specific

laboratory diagnostic test; however, the presence of

HLA-B27 is supportive Elevation of the white blood

cell count, platelet count, and ESR are frequently seen

Some patients may have systemic features including

low-grade fever, weight loss in association with very

high ESR levels (>100 mm/hour) Inflammatory bowel

disease should be considered in this patient group

Serologic tests (ANA, RF) are usually negative

Radiographic evaluation of the sacroiliac joints can be

diagnostic and is best demonstrated by computed

tomography

DIFFERENTIAL DIAGNOSIS

• Inflammatory bowel disease, other inflammatoryarthropathies, systemic onset JIA, infection, diskitis,and malignancy should be considered

TREATMENT

• Medical management depends on disease severity Manypatients respond well to NSAIDs and sulfasalazinewhile other patients may require methotrexate or glu-cocorticoids TNF inhibitors can be useful in thesevere patient Enthesitis does not respond well to anti-inflammatory therapy and is treated with orthoses Allpatients require exercise and posture training program

PROGNOSIS

• The disease course of spondyloarthropathies is ting and may be mild, especially in female patients.The presence of hip disease and persistent arthritis isassociated with poor outcome Compliance with phys-ical and occupational therapy is crucial to good out-come for these patients

remit-PREVENTION

• Compliance can prevent some poor outcomes.Maintain bone health with calcium and vitamin D

PSORIATIC ARTHRITIS

• Arthritis and psoriasis

• Arthritis and two-third following criteria:

1 Nail pitting or onycholysis

2 Family history or psoriasis in first-degree relative

3 Dactylitis

• Estimated incidence 3/100,000

• Estimated prevalence 10–15/100,000

• Most patients are Caucasians

• Mean age at onset is 10 years with a noted early peak

in preschool years

• Gender distribution is fairly equal

• Psoriasis occurs first in 40% of children while tis occurs first in 60%

arthri-• Pathology is related to abnormal CD8 T-cell tions seen in the skin and synovium

popula-• Clinical pattern of arthritis is usually monoarticular ofasymmetric oligoarthritis extending to a polyarticularpattern and associated with dactylitis (70%)

• Nail pitting is common; onycholysis is rare.

• Uveitis is uncommon

• No specific laboratory tests ANA is positive in 30–

60% Elevated ESR, CRP, thrombocytosis, and anemia

of chronic disease are common

• Radiographs may reveal periostitis

• Treatment protocol is similar to JAS TNF inhibitors

are particularly useful in psoriatic arthritis and control

psoriasis as well as arthritis in patients with more

aggressive disease

• Prognosis is poor with many patients having disease

persistence and joint deformities

• Prevention of poor prognosis may occur with newer

biologic agents and an aggressive management plan

Bowyer SL, Roettcher PA, Higgins GC, et al Health status of

patients with juvenile rheumatoid arthritis at 1 and 5 years after

diagnosis J Rheumatol 2003;30:394–400.

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 uveitis Pediatr Clin North Am

2003;50:125–136.

Schneider R, Passo MH Juvenile rheumatoid arthritis Rheum

Dis Clin North Am 28:503–530, 2002.

ERYTHEMATOSUS (SLE)

Marisa S Klein-Gitelman

EPIDEMIOLOGY

• The incidence and prevalence of pediatric SLE varies

by geographic location, ethnicity, gender, and age

The true incidence and prevalence are not known

Estimates of prevalence vary from 4 to 250/100,000

with higher prevalence in children of Asian, African,

and Latin and Native American descent SLE is more

frequent in females The gender ratio before puberty

is 4:1 (female:male) and 8:1 after puberty

PATHOPHYSIOLOGY

• The etiology of SLE remains unclear despite intensiveinvestigation It is evident that SLE is a multifactorialprocess including a variety of genes, hormonal, andenvironmental factors SLE is the archetypicalautoimmune disease with dysregulation leading to theformation of autoantibodies The most specificautoantibody is anti-DNA; however, autoantibodies to

a variety of nuclear antigens, ribosomes, components

of blood including red and white blood cells, platelets,immunoglobulin, and coagulation factors, and spe-cific end-organs occur The presence of autoantibod-ies leads to immune complex formation, complementactivation, recruitment of inflammatory cells, andtissue damage Nonspecific B-cell activation is due todysregulation of suppressor T cells perhaps due toabnormal apoptosis or cell death of autoreactive lym-phocytes Abnormalities in the complement cascade

or macrophage phagocytosis are other important ease mechanisms Hormonal influences, ultravioletlight, and certain drugs are also known to be inducers

dis-of disease The result is an immune mediated vasculitis and fibrinoid necrosis leading tosclerosis of collagen manifested as an onion-skinlesion around arteries and cellular inflammation.Hematoxylin bodies are the result of ant-DNA anti-bodies and nuclear debris

complex-CLINICAL FINDINGS

• As previously mentioned, the manifestations of SLEare protean and each patient has unique features Adetailed history, physical examination, and laboratoryevaluation may uncover the disease and lead to earlydiagnosis and treatment Common symptoms andsigns are the following:

• Constitutional symptoms include fever, fatigue,anorexia, weight loss, and lymphadenopathy

• Musculoskeletal symptoms include arthritis, arthralgia,myalgia, and tendonitis Myositis is rare Osteonecrosis

is common (secondary to vasculopathy or steroids)

cortico-• Skin findings include malar rash, discoid rash, sensitivity rash, nasooral ulcers, cutaneous vasculitis,livedo reticularis, Raynaud phenomenon, urticaria,psoriasform or annular rashes, bullous lesions, andalopecia (There are many other SLE rashes.)

photo-• Renal findings include nephrotic syndrome, lonephritis, acute renal failure, hypertension, peripheraledema, and retinal changes World Health Organizationcriteria of renal pathology are helpful for diagnosis,treatment, and prognosis The classification describes

glomeru-CHAPTER 186 • SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) 591

the severity and geographic distribution of

glomeru-lonephritis (Classes II–IV), membranous changes

(Class V), and glomerular sclerosis (Class VI)

• Cardiovascular/pulmonary findings include chest pain

especially when reclined, valvulitis, endocarditis

(Libman-Sacks disease), coronary artery vasculitis/

thrombosis, arrhythmia, heart failure, pleuritic pain,

pulmonary hemorrhage/infiltrates, and fibrosis

• Neurologic findings include seizure, psychosis,

cogni-tive dysfunction, stroke, pseudotumor cerebri, aseptic

meningitis, chorea, mood disorders, transverse

myelitis, and peripheral neuropathies Neuropsychiatric

manifestations may be acute and severe Neuroimaging

may be normal

• Hematologic findings include thrombocytopenia,

leu-copenia, lymphopenia, Coomb positive anemia, anemia

of chronic disease, hypercoaguable states with

throm-bosis, and associated antiphospholipid antibodies/lupus

anticoagulant

• Gastrointestinal findings include elevated liver

enzymes, colitis, or intestinal vasculitis

• Sjogren syndrome: Dry eyes (keratoconjunctivitis

sicca) and dry mouth

• Autoimmune endocrinopathies, most frequently

thy-roiditis

DIAGNOSIS

• The diagnosis is supported by the presence of 4/11

classification criteria:

1 Malar rash: Fixed erythema in a butterfly

distri-bution sparing nasolabial folds

2 Discoid rash: Erythematous, raised, scaly rash

with follicular plugging

3 Photosensitivity: Rash as result of a reaction to

a Pleuritis: Convincing history of pleuritic pain,

pleural rub, or evidence of pleural effusion

b Pericarditis: Pericardial rub, electrocardiogram

(ECG), or evidence of pericardial effusion

a Hemolytic anemia with reticulocytosis

b Leukopenia <4000/mm3 on two or more sions

occa-c Lymphopenia <1500/mm3 on two or moreoccasions

c Positive LE-cell preparation

d Biologic false positive test for syphilis for atleast 6 months confirmed by fluorescent trepone-mal antibody absorption test (FTA-ABS) or TPI,

or IgG or IgM antiphospholipid antibodies, orlupus anticoagulant

• Other laboratory abnormalities include mentemia, the most important measure of disease activ-ity or immune complex formation (total hemolyticcomplement, C3, C4), anti-RNP (ribonuclear protein)antibody in association with anti-Smith antibody,Sjogren antibodies (anti-SSA and anti-SSB antibod-ies), and hypergammaglobulinemia

hypocomple-DIFFERENTIAL DIAGNOSIS

• The criteria for lupus are helpful due to the variety ofclinical phenomena that occur The most importantdifferentials include infection including subacuteendocarditis, malignancy especially leukemia andlymphoma, inflammatory bowel disease, and otherrheumatologic diseases such as systemic juvenilearthritis, dermatomyositis, and polyarticular JIA.Mixed connective tissue disease (MCTD) can have avery similar presentation to SLE; however, a criterionfor the diagnosis of MCTD is the presence of anti-RNP antibodies without anti-Smith antibody MCTDpatients with lupus-like disease may evolve to diseasemore similar to dermatomyositis or scleroderma.Hence, it is important to distinguish the MCTDpatient from the SLE patient

TREATMENT

• Specific treatment needs to be individualized for eachpatient depending on the level and type of disease

activity All patients need to obtain a

calcium-sufficient well-balanced diet, rest, and sun protection

Immunizations including pneumococcal vaccines

should be completed SLE patients are

immunocom-promised due to disease pathophysiology and most

drug therapies Any infection must be evaluated and

treated swiftly Patients with musculoskeletal

com-plaints often benefit from nonsteroidal

anti-inflamma-tory agents Hydroxychloroquine treats most lupus

rashes and minor musculoskeletal symptoms More

recent data suggest that hydroxychloroquine decreases

risk of thrombosis Anticoagulation is required for

thrombosis; low-dose aspirin for presence of

antiphos-pholipid antibodies Other than patients with minor

disease manifestations, all SLE patients require

high-dose corticosteroids and often at onset, high-high-dose

intravenous corticosteroids The dose of

corticos-teroids is slowly and smoothly tapered over months

once disease control is obtained Immunosuppressive

medication other than corticosteroids are used to

con-trol severe disease manifestations and as steroid

spar-ing agents Cyclophosphamide is used in conjunction

with corticosteroids in the patient with significant

nephritis, cerebritis, or carditis Azathioprine is used as

a steroid sparing agent There is limited information on

the use of methotrexate, cyclosporin, and

mycopheno-late mofetil The use of intravenous immunoglobulin

(IVIG) and plasmapheresis have limited roles in

treat-ment It is important to monitor levels of IgG in

patients on chronic immunosuppression as

hypogam-maglobulinemia can occur Experimental therapies

including the use of anti-CD20 antibodies and stem

cell transplantation for the patient with persistent and

severe disease unresponsive to treatment can be

con-sidered

PROGNOSIS

• SLE is a lifetime disease characterized by flares and

remissions It is difficult to determine the prognosis

for an individual patient; however, disease activity and

severity, the progression of kidney disease, the

pres-ence of vasculitis, and the number of organ systems

involved are associated with morbidity and mortality

Typically, patients with severe kidney disease and

per-sistent central nervous system (CNS) disease fare

poorly relative to other children Major morbidity

(from disease and treatment) occurs from infection,

renal failure, chronic CNS disease, atherosclerosis/

myocardial infarction, cardiomyopathy, osteoporosis

especially due to fracture, osteonecrosis, cataracts,

glaucoma, growth failure, diabetes, and infertility

PREVENTION

• Compliance with treatment plans, sun protection,rapid treatment of infection, and attention to dietincluding calcium and vitamin D can prevent diseaseflares and morbidity due to treatment

Cassidy JT, Petty RE (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 ery-

thematosus in childhood Rheum Dis Clin North Am

• Henoch-Schonlein purpura is the most common form

of systemic vasculitis in the pediatric population.Incidence is reported at 13.5/100,000 Most patientsare between 3 and 15 years with a male:female ratio

of 1.5:1

PATHOPHYSIOLOGY

• Henoch-Schonlein purpura is a small vessel immune complex mediated vasculitis activating thealternate complement pathway (C3, properidin) Skinand kidney biopsy reveal leukocytoclastic vasculitiswith IgA deposition The kidney lesion ranges from

IgA-CHAPTER 187 • HENOCH-SCHONLEIN PURPURA (HSP) 593

focal mesangial proliferation to severe crescentic

disease The vasculitis often occurs after infection, in

particular an upper respiratory illness or streptococcal

pharyngitis although there are associations with other

viral and bacterial pathogens HSP also occurs after

insect bites, certain medications, and certain foods in

the individual with food allergy The only genetic

markers reported have been risk factors for renal

dis-ease: HLA-B35 in a Spanish population and Il-1R

allele 2 HSP appears to occur frequently in patients

with immunologic defects such as C2or C4deficiency

and common variable disease

CLINICAL FEATURES

• The primary features of HSP include arthritis,

abdom-inal pain, and nonthrombocyopenic purpuric rash

below the waist line Either of these features may

pre-cede 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

chil-dren

2 The arthritis is transient but painful Affected joints

are usually large joints of lower and sometimes

upper extremities

3 The abdominal pain is often associated with

bleed-ing Complications include intussuception of small

bowel and massive gastrointestinal bleeding

Inflammation of other abdominal structures have

been reported including gallbladder and pancreas

4 Hematuria is not infrequent; however, some

chil-dren develop severe glomerulonephritis and rarely,

renal failure Children at risk for severe renal

dis-ease are older than 7 years at onset, more severe

course of purpura and/or abdominal pain and low

factor XIII activity

5 Other rare but severe manifestations include

orchi-tis, ureteral or epididymal vasculiorchi-tis, pulmonary

hemorrhage, and central nervous system (CNS)

disease including seizure and infarct

DIAGNOSIS AND DIFFERENTIAL DIAGNOSIS

• There are no specific laboratory features associated

with this vasculitis Platelet and white blood cell counts

are normal to mildly elevated The erythrocyte

sedi-mentation rate (ESR) may also be elevated IgA may be

elevated early in the disease course Antinuclear

anti-body (ANA) titers are usually negative Guaiac positive

stools occur frequently A coagulopathy may bedemonstrated in some cases with elevated D-dimer ordecreased levels of Factor XII More rarely, prolongedprothrombin time/partial thromboplastin time (PT/PTT) is found Diagnostic criteria include palpable pur-pura, age less than 20 years at onset, bowel angina andwall granulocytes on biopsy The presence of 2/4 crite-ria is 87% sensitive and 88% specific

TREATMENT

• Treatment is usually supportive care Patients mayrequire nonsteroidal anti-inflammatory agents to con-trol cutaneous manifestations and arthritis The use ofglucocorticoids is controversial for gastrointestinalsymptoms Some literature suggests that steroids maymask intussusception or perforation while otherauthors suggest that steroids decrease the presence ofpain significantly and may prevent more severe renaldisease Evidence of systemic vasculitis or specificend-organ damage requires steroid therapy Severekidney disease requires combination immunosuppres-sion with corticosteroids, cyclophosphamide, andanticoagulants If there is persistent proteinuria,angiotensin-converting enzyme inhibitor therapy isuseful

PROGNOSIS

• Most patients have a short disease course with plete resolution within 1 month Some patients havedisease recurrences; however, the recurrent episode isusually shorter and less intense Morbidity arises fromgastrointestinal infarction or perforation during theacute phase of the disease and renal failure in thosepatients with severe kidney disease Approximately1% of patients go to complete renal failure requiringdialysis and transplantation

com-PREVENTION

• There is literature which suggests that early treatment

of patients at risk for kidney disease may decrease theseverity, and perhaps, the presence of kidney disease.This literature is controversial and there are no specificrecommendations There is some suggestion that uri-

nary metabolites, N-acetyl-[beta]-D-glucosaminidase(NAG) and [alpha]-1-microglobulin may be able topredict risk of renal disease If this suggestion is

validated, corticosteroids may be given to a select

high-risk population

Brendel-Muller K, et al Laboratory signs of activated

coagula-tion are common in Henoch-Schonlein purpura Pediatr

Nephrol 2001;16:1084–1088.

Cassidy JT, Petty RE (eds.) Textbook of Pediatric Rheumatology.

Philadelphia, PA: W.B Saunders, 2001.

Hendriksson P, Hedner U, Nilsson IM Factor XIII (fibrin

stabi-lizing factor) in Henoch-Schonlein purpura Acta Paediatr

Scand 1977;66:273–277.

Mollica F, Li Volti S, Garozzo R, Russo G Effectiveness of early

prednisone treatment in preventing the development of

nephropathy in anaphylactoid purpura Eur J Pediatr 1992;

151:140–144.

Muller D, Greve D, Eggert D Early tubular proteinuria and the

development of nephritis in children Pediatr Nephrol 1999;15:

85–89.

Reinehr T, Burk G, Andler W Does steroid treatment of abdominal

pain prevent renal involvement in Henoch-Schonlein purpura?

J Pediatr Gastroenterol Nutr 2000;31:323–324.

Rosenblum ND, Winter HS Steroid effects on the course of

abdominal pain in children with Henoch-Schonlein purpura.

• General: Incidence of JDM (United States) 3.2 cases/

million children/year, with a ratio of girls to boys of

2.1 (Mendez et al., in press) The mean age at disease

onset is 6.7 years; 25% of children are 4 years of age

or younger (9% are 2 years of age or younger) The

majority, 73%, are White, 12% are Hispanic, and 9%

African-Americans

• Infection may trigger JDM at onset or be associated

with disease flare JDM children, in the 3 months

before diagnosis, have an increased frequency of

infectious symptoms when compared with age,

geo-graphic matched case-controls most frequently

respi-ratory or gastrointestinal (GI) symptoms A group A

beta-hemolytic streptococcus has been implicated

PATHOPHYSIOLOGY

• Genetic factors are important in susceptibility and

chronicity

1 DQA1*0501: A higher association with

histocom-patibility locus antigens, DQA1*0501 > DR3 >B8—than family members or controls (Targoff,2002) Boys with JDM have a higher frequency ofthe maternal HLA class II antigen, DQA1*0501(maternal chimerism) ( Reed and Ytterberg, 2002)

2 TNFα : Substitution of an A for a G in the

TNFα-308 promoter region associated with increasedproduction of TNFα by both circulating mononu-clear cells and muscle fibers, a prolonged diseasecourse, requiring immunosuppressant therapy for

36 months or more, pathologic calcifications andocclusion of capillaries

• An antimicrobial response in untreated children with

JDM

1 Gene expression profiles of muscle biopsies from

DQA1*0501+ girls with JDM documented astrong type I interferon (IFN-α) induced response,compatible with antiviral response

2 Antigens implicated by specific antibody testing

include the RNA picornavirus, coxsackievirus B

3 Lymphocyte stimulation studies, using an antigenic

region shared by myosin/group A beta-hemolyticstreptococcal M protein

• Vascular lesions: The primary lesion in JDM is an

inflammation of small blood vessels, occlusion ofarterioles and capillaries with subsequent drop-out

1 Generalized vascular changes: Dilated, inflamed

small capillaries at the margins of the nailfold andeyelid, and on the soft palate Decreased number

of end-row capillary nailfold loops associated withsevere JDM rash Remaining capillaries, bush for-mation, with intra vessel thrombosis

2 Muscle biopsy: Infiltrate is primarily mononuclear

(in contrast to adults with polymyositis alone,where polymorphonuclear cells predominate).Other features: Vascular occlusion, myofiberdestruction, perifascicular atrophy, edema, andfibrosis (see Table 188-1)

3 Hematology: Often normal: complete blood count

(CBC), differential, platelets, erythrocyte mentation rate (ESR)

sedi-4 von Willebrand factor antigen: Increased in 60%

5 Clinical chemistry: ⇑ Aldolase, creatine kinase,aspartate aminotransferase (AST), Alanine amino-transferase (ALT), lactic dehydrogenase (LDH); uri-nalysis (UA): myoglobinuria; stool for occult blood

6 Immunology: Antinuclear antibodies (ANA)+ 80%

at Dx: speckled pattern; most common MsA: Mi-2

7 ⇑ %CD19+ B cells; ⇑ neopterin (60%)

CHAPTER 188 • JUVENILE DERMATOMYOSITIS (JDM) 595

8 Radiographic: Magnetic resonance imaging

(MRI): localization of inflammation; DXA:

assessment of bone density; rehabilitation Cookie

swallow: airway protection

9 Muscle biopsy: See above.

10 ANA: Eighty percent are low titer (1:160–1:320)

usu-ally speckled pattern Only 10–20% ANA+ sera with

known specificity If antibodies against myositis

spe-cific antigens (tRNA synthetases, signal recognition

protein), or myositis associated antibodies (MSA)

(e.g., Pm/Scl, PM-1, Scl-70) children may develop

interstitial lung disease and a protracted, sometimes

fatal disease course (Targoff, 2002)

CLASSIFICATION CRITERIA FOR JDM

• Rash: Gottron papules, shawl sign, erythema (knees,

elbows, ankles) (Bohan and Peter, 1975)

• Symmetrical proximal muscle weakness

• Elevated serum levels muscle enzymes

• Positive electromyogram

• Biopsy compatible with diagnosis

• Diagnosis: Definite JDM: rash + 4 criteria; probable

JDM: rash + 3 criteria; possible JDM: rash + 2 criteria

• Frequent symptoms at diagnosis: Muscle pain; fever,

dysphagia, arthritis, calcifications, GI bleeding Less

frequent: alopecia, edema

DIFFERENTIAL DIAGNOSIS

• Dermatomyositis

1 Allergic reaction

2 Other immune conditions: systemic lupus

erythe-matosus (SLE), systemic onset juvenile arthritis,

scleroderma, psoriasis, eczema

3 Infectious myopathies: echovirus, parvovirus, oplasmosis, Lyme

2 Drug- and toxin-induced myopathies: steroids, hydroxychloroquine, penicillamine, peni-cillin, sulfa, ketoconazole, cimetidine, ranitidine,levostatin, zidovudine

cortico-3 Dystrophies: Duchenne, Becker, ing hormone (FSH), myotonic, dysferlin, merosin

follicle-stimulat-4 Endocrine myopathies: thyroid, diabetes, chondrial myopathies

mito-TREATMENT

• Consider prior to therapy: Child’s age at first symptom

(disease onset) and at diagnosis—duration of untreateddisease; severity of disease; extent of vascular involve-ment Presence of serologic markers: MSA: Pm/Scl,RNP; myositis specific antibodies: JO-1; SPR, Mi-2

• Therapy: Evaluate: disease severity/chronicity.Individualize

1 Corticosteroids: Intravenous: 30 mg/kg/day, 1 gmaximum; PO prednisone: 0.5 mg/kg/day on non-IVdays; topical: use sparingly

2 Methotrexate: Intravenous initially: 15 mg/m2/week;folic acid 1 mg/day

3 Skin involvement: Hydroxychloroquine: 7 mg/kg;tacrolimus may be an irritant

4 Consider: Cyclophosphamide; IV IgG if IgG low;Cyclosporin 2–3 mg/kg

5 Nutrition: Carnitine, vitamins

6 Physical/occupational therapy: Early—passivestretch; later—conditioning

PROGNOSIS

• Before corticosteroids: One-third died, one-third

“crippled,” and one-third had pathologic Ca++

• As of 2003, mortality is 1%, usually a consequence ofinfection

• Not known: increased risk for diabetes, heart disease,and effect on fertility?

* Muscle biopsy negative or non-diagnostic.

S OURCE : Adapted from Targoff IN Laboratory testing in the diagnosis

and management of the idiopathic inflammatory myopathies Rheum

Dis Clin North Am 2002;28:859–890.

• If vasculitis, give medication by vein, not by mouth to

ensure absorption

• Sun screen: >SPF 30; ultraviolet (UVA/UVB),

p-aminobenzoic acid (PABA) free; protective clothing.

• Bone protection: Calcium sufficient diet; vitamin D

(1,25-OH-vitamin D)

Bohan A, Peter B Polymyositis and dermatomyositis N Engl J

Med 1975;292:344–347.

Mendez E, Lipton R, Dyer A, Ramsey-Goldman R, Roettcher P,

Bowyer S, Pachman LM U.S incidence of JDM 1995–98:

results from the NIAMS Registry Arthritis Care Res (in press).

Pachman LM Juvenile dermatomyositis: immunogenetics,

pathophysiology and disease expression Rheum Dis Clin

North Am 2002;28:579–602.

Pachman LM Dermatomyositis Nelson’s Textbook of Pediatrics,

17th ed Philadelphia, PA: W.B Saunders, 2003, pp 813–816.

Reed AM, Ytterberg SR Genetic and environmental risk factors

for idiopathic inflammatory myopathies Rheum Dis Clin

North Am 2002;28:891–916.

Rider LG, Miller FW Classification and treatment of the juvenile

idiopathic inflammatory myopathies Rheum Dis Clin North

Am 1997;23:619–655.

Targoff IN Laboratory testing in the diagnosis and management

of the idiopathic inflammatory myopathies Rheum Dis Clin

• Sporadic occurrences may follow exposure to

bleomycin, pentazocine, and polyvinyl chloride

PATHOPHYSIOLOGY

• The cause is unknown, but damaged vascular

endothe-lium may trigger an inflammatory response, in which

interleukin-1 induces platelets to release

platelet-derived growth factor (PDG), leading to fibrosis

CLINICAL FEATURES

• Raynaud phenomenon (RP), a manifestation of digital

arterial spasm, is diagnosed when two of three colorchanges occur: pallor, cyanosis, then erythema

1 RP may precede skin and systemic findings

2 When occurring as an isolated finding (Raynaud

disease, which is much more common than RP),

episodes usually do not require medical treatment

• Systemic sclerosis

1 The initial phase is characterized by puffinessaround digits

2 Eventually, tightening of skin occurs The digits take

on a tapered appearance (sclerodactyly) The face

may show frontal atrophy and a decreased ability toopen mouth wide

3 Ulceration of the skin over elbows and ankles maydevelop

4 Severe RP may result in ulceration at the fingertips,threatening loss of part or all of affected digits

5 Sclerosis of affected joints may be associated withflexion contractures, including severe claw-likedeformities of the hands

6 Pulmonary disease from interstitial fibrosis maylead to pulmonary arterial hypertension Renalarterial involvement can result in episodes ofsevere systemic hypertension Esophageal fibrosismay cause esophageal dysmotility

7 Less common manifestations include tion and failure to thrive, from intestinal fibrosis;arrhythmias or decreased cardiac function from car-diac fibrosis

malabsorp-• Limited systemic sclerosis is characterized by fibrosis

of the distal extremities, face, and trunk; systemicfindings are rare

• Calcinosis-Raynaud phenomenon-Esophageal

dys-motility-Sclerodactyly-Telangiectasia (CREST)

syn-drome is characterized by calcinosis, RP, esophageal

involvement, sclerosis of skin, and telangiectasias;occasionally severe pulmonary arterial hypertensionmay occur

• Linear scleroderma is characterized by skin

involve-ment with only rare evolution to systemic disease;linear skin lesions occur along extremities, trunk, or

face Morphea is a subset of linear scleroderma in

which skin lesions are discrete, often oval shaped

DIAGNOSIS AND DIFFERENTIAL

• Scleroderma is suspected in children with RP whodevelop worsening episodes, sclerodactyly, or dyspnea

• Laboratory evaluation often reveals positive antibodyscreens for antinuclear antibodies, anti-SCL70 antibod-ies (specific for topoisomerase 1), and anticentromere

CHAPTER 189 • SCLERODERMA 597

antibodies Inflammation early in systemic disease can

be reflected by elevated erythrocyte sedimentation rate

(ESR) and anemia

• Other evaluation may show pulmonary fibrosis at

bases on high resolution computed tomography (CT)

scan, abnormally decreased lung diffusing capacity on

pulmonary function tests, echocardiogram showing

pulmonary arterial hypertension, and upper

gastroin-testinal (UGI) studies showing abnormal esophageal

motility

DIFFERENTIAL DIAGNOSIS

• When elements of myositis, arthritis, and/or lupus are

found, consider mixed connective tissue disease,

asso-ciated with antibodies to ribonucleoprotein

• Isolated diffuse swelling of digits raises the

possibil-ity of early Henoch-Schönlein purpura and allergic

reactions

• Graft-vs.-host disease following transplantation can

result in a scleroderma-like syndrome

• Raynaud disease without scleroderma is more

com-mon than RP associated with scleroderma

• Eosinophilic fasciitis presents as a fasciitis with skin

findings similar to localized scleroderma; however,

marked eosinophilia is distinctive, accompanied with

elevated ESR Diagnosis is based on fasciitis with

eosinophilic infiltrate, requiring a full-thickness skin

biopsy that includes underlying fascia and muscle

• Discrete or diffuse skin fibrosis, without other

mani-festations of scleroderma manimani-festations, may be seen

in pseudoscleroderma or phenylketonuria

TREATMENT

• There is no specific medical treatment, but

cortico-steroids and immunosuppressive agents (e.g.,

metho-trexate) may be used in selected patients, particularly

during the initial inflammatory phase

• Calcium-channel blockers or angiotensin-convertingenzyme inhibitors have been used for severe RP

• Angiotensin-converting enzyme inhibitors may vent hypertensive crisis

pre-• Prostaglandin E1 administered centrally has avertedthreatened loss of digits from severe RP, in somepatients

• Physical and occupational therapy, along with ing, helps improved decreased mobility from jointcontractures

splint-PROGNOSIS

• The prognosis is variable, and few studies havereported on prognosis in children Progression of sys-temic sclerosis to end-organ disease affecting thelungs, heart, and kidneys is generally thought to occurover a period that may last for many years, but ulti-mately resulting in early death Nevertheless, earlytreatment, as noted above, may improve this progno-sis is some patients

PREVENTION

• There is no means of preventing scleroderma, exceptfor the rare cases associated with exposure to environ-mental agents, noted above

Miller ML Scleroderma In Miller ML (ed.), Nelson’s Textbook

of Pediatrics, 17th ed Philadelphia, PA: W.B Saunders, 2003,

pp 816–819.

Murray KJ, Laxer RM Scleroderma in children and adolescents.

Rheum Dis Clin North Am 2002;28:603–624.

190 FAILURE TO THRIVE

Timothy A Sentongo

DEFINITION

• The term failure to thrive (FTT) is not a diagnosis or

specific disease entity but denotes growth impairment

or weight gain deviating below the range of normal or

expected for age in infants and children When arising

from factors inherent to the child it is referred to as

organic failure to thrive (OFTT), and nonorganic

fail-ure to thrive (NOFTT) when primarily due to factors

external to the child Combinations of OFTT and

NOFTT also frequently occur in the presence of

minor infections, vomiting, diarrhea, and when

organic disease leads to behavioral problems and

feeding disorders

• The etiology of NOFTT is inadequate caloric intake in

association with behavioral, parental, and/or

psychoso-cial factors Other conditions associated with reduced

growth; however, not requiring nutritional intervention

include familial short stature, factitious-FTT which

represents a normal physiologic deceleration in growth

velocity occurring in some children during the first 2–3

years, and constitutional growth delay, which is

charac-terized by slow growth; nevertheless, paralleling the

growth curve in association with delayed skeletal

matu-rity, absence of organic disease, and a family history of

delayed puberty (late bloomers)

• OFTT may be secondary to chronic inflammatory

disorders or organ dysfunction, e.g., gastrointestinal,

endocrine, renal, cardiac, and pulmonary diseases

Other conditions associated with OFTT include

genetic, chromosomal anomalies, and musculoskeletal

disorders

EPIDEMIOLOGY

• Nonorganic causes are by far the commonest causes

of FTT in the general population; however, amongstchildren hospitalized for FTT, organic causes can beidentified in up to 20–40% of patients

ASSESSMENT

• Careful medical history about the presenting plaint should include chronology of development ofthe growth deficits in question, i.e., onset and progres-sion of growth problems, acute vs chronic

com-1 Inquiries should also be made into pregnancy andbirth history, feeding patterns, intercurrent illness,chronic medications, family medical history, andsocial structure

2 A review of systems to screen for syndromes ciated with FTT (Table 190-1)

asso-3 A good attempt should be made to obtain all ous growth records

previ-• Accurate growth measurements (weight, length/ height, and head circumference) should be obtainedand plotted on the updated Centers for Disease Controland Prevention (CDC) 2000 growth charts (see www.cdc.gov/growthcharts) Growth charts are also avail-able for preterm/low birth weight (LBW) infants andspecific conditions, e.g., Down syndrome, Turnersyndrome, and achondroplasia

• Interpretation of growth should begin with assessment

of linear growth status (length/height) Proper mentation and positioning are key for reliable measure-ments Measurement of length (supine) requires aninfant length board with a fixed head board and move-able footboard An assistant is required to hold the head

instru-in position while the torso and legs are positioned formeasurement Height (standing) requires a stadiometer

Section 22

GROWTH DISORDERS

599

Timothy A Sentongo, Section Editor

Copyright © 2005 by The McGraw-Hill Companies, Inc Click here for terms of use.

The head paddle should be firmly perpendicular to the

stadiometer

• Growth charts and reference data are also available for

alternative measures including upper arm length, lower

leg length, and skinfold anthropometry, which are

par-ticularly useful in situations where measurement of

length and stature would be inaccurate, e.g., children

who are bedridden, kyphoscoliosis, contractures, and

other muculoskeletal deformities

• Measurements for infants (age: birth to 36 months) are

all in length, and measurements for older children

(age: 2–20 years) are all in height (standing)

• The child’s (age: 2–20 years) height percentile should

be within the calculated target height based on

mid-parent height determined as follows:

Boys:

Girls:

• Pubertal stage should always be assessed because ofits significant impact on interpretation of weight andheight gain in females >8–9 years, and males >12–13years

• The next step is to compare actual weight with the idealbody weight (IBW) The IBW is the median weight(50th percentile) for the measured length/height Theactual weight and IBW are then expressed as a percent-age, and variation of ±10% is considered within normal

A percentage of 80–90% actual/IBW corresponds tomild wasting; 70–80% moderate wasting; 60–70%severe wasting; and <60% suggests severe wasting

approaching incompatibility with survival.

• Alternatively, comparisons of weight-for-length/staturemay be assessed using the weight-for-length growthcharts (age: birth to 36 months) and body mass index(BMI) charts in older children (age: 2–20 years) BMI iscalculated as weight (kg) divided by height in meterssquared (kg/m2)

1 A decreased (<5%) weight-for-length percentile orBMI indicates a thin body habitus commonly asso-ciated with malnutrition from inadequate caloricintake, malabsorption, or chronic inflammatory

Father’s height (cm) mother’s height (cm) 13 cm

Psychosocial Infants/young children: Poor feeding technique, errors in formula preparation, unusual maternal nutritional beliefs,

poor maternal-child interaction, psychologically disturbed mother, emotional deprivation, emotional dwarfism, child neglect, famine, war, starvation

Older children/adolescents: anorexia and unusual dietary habits, e.g., fad vegetarian, sport-induced weight loss, lipid-lowering diets

Other Factitious-FTT, familial short stature, constitutional growth delay

OFTT

Inability to suck, CNS pathology (psychomotor retardation), neuromuscular disease (Werdnig-Hoffmann, myotonia congenita, swallow, or masticate dysautonomia), dysphagia (cleft lip/palate, oral-pharyngeal incoordination, dystrophic epidermolysis bullosa) Maldigestion, Cystic fibrosis, celiac disease, tropical sprue, Schwachman-Diamond syndrome, cholestatic liver disease, short gut malabsorption syndrome, protein losing enteropathy

Poor nutrient use Renal failure, renal tubular acidosis, inborn errors of metabolism

Vomiting CNS abnormality (tumor, infection, increased pressure), metabolic toxin (inborn errors of organic or amino acid

metabolism), pyloric stenosis, intestinal malrotation, renal tubular disease Regurgitation Gastroesophageal reflux, milk-soy protein intolerance, eosinophilic esophagitis, hiatal hernia, rumination syndrome Elevated/inefficient Thyrotoxicosis, hypothyroidism, chronic disease (bronchopulmonary dysplasia, heart failure), cancer, chronic metabolism inflammatory disorders (SLE, inflammatory bowel disease, liver cirrhosis, chronic infection), immunodeficiency

diseases, TB, burns Reduced growth potential Chromosomal disorders, primordial dwarfism, skeletal dysplasia, specific syndromes (fetal alcohol)

Other Chronic steroid therapy

S OURCE: Adapted with modification from Kerr DS Failure to thrive and malnutrition In: Kleigman RM, Nieder ML, Super DM (eds.), Practical

Strategies in Pediatric Diagnosis and Therapy Philadelphia, PA: W.B Saunders, 1996, pp 243–258.

A BBREVIATIONS : CNS, central nervous system; SLE, systemic lupus erythematosus; TB, tuberculosis.

CHAPTER 190 • FAILURE TO THRIVE 601

diseases For postnatal acquired disorders weight

gain drops off before length/height percentiles Of

the three growth measurements, head

circumfer-ence is affected last by malnutrition

2 Proportionately small infants with ideal body

weight ≥100–120% and/or weight-for-length

greater than the median (50th percentile) should be

considered to have primary growth problems

including various genetic, endocrine, and skeletal

disorders

3 Infants with disproportionately small heads are

suspect for primary neurologic problems affecting

brain growth because head growth is the last to be

affected by primary malnutrition and is not

charac-teristic of primary skeletal or growth problems

• Laboratory aids: General screening tests include

com-plete blood count, urinalysis, electrolytes, blood urea

nitrogen, pre-albumin, and liver enzymes Unless

organic disease is suspected, more detailed testing

should be reserved for patients that respond poorly to

an initial trial of nutritional management

ETIOLOGY OF FTT

• See Table 190-1

TREATMENT

• Regardless of the etiology of FTT, effective

nutri-tional management consists of providing adequate

calories to reverse impaired growth, achieve catch-up

growth, and restoration of normal growth

• There is a need for a multidisciplinary team including

physician, dietician, feeding therapists, social worker,

and sometimes psychologist

• Nutritional therapy consists of establishing calorie

goals 150–200% above the recommended for age This

may be accomplished through oral supplements and

nasogastric tube feeds Parenteral nutrition may be

required in situations were enteral feeding is limited or

impossible

• Caution is required during the early phase of

nutri-tional therapy in the severely malnourished because of

increased risk for refeeding syndrome (see section

below)

NOFTT

• Positive growth and behavioral response to treatment

confirms the diagnosis of NOFTT

• Active parental involvement is essential for sustained

success

• Psychosocial factors influencing parent-child

interac-tion and feeding behavior must be evaluated and

pri-R EFEEDING S YNDROME

• Metabolic and physiologic perturbations arising fromthe anabolic response to rapid refeeding in severely mal-nourished patients (see Table 190-2 for patients at risk).The abnormalities include extracellular fluid shifts, anddepletion of phosphate, potassium, magnesium, andvitamins

1 Extracellular fluid shifts: The increased sodiumintake combined with the antinatriuretic effect ofinsulin stimulated by increased carbohydrate intakehas a net effect of increased extracellular fluidvolume The resulting clinical manifestations rangefrom rapid weight gain and dependent edema tocongestive heart failure in some situations, e.g.,kwashiorkor

2 Hypophosphatemia arises from relative depletion ofphosphate during the increased glycogen synthesisthat follows the increased carbohydrate intake, andincreased synthesis and use of adenosine triphos-phate (ATP) for other anabolic processes The clini-cal sequels of hyphosphatemia include cardiac,neuromuscular, and hematologic dysfunction, andalso acute respiratory failure

3 Hypokalemia: Starvation is associated with totalbody potassium depletion through decreased musclemass During nutritional rehabilitation in addition topotassium deposition into newly synthesized cells,the insulin surge associated with increased dietary

TABLE 190-2 Patients at Risk for Refeeding Syndrome

Anorexia nervosa Kwashiorkor Marasmus Chronic malnutrition—underfeeding, malabsorption Morbid obesity with massive weight loss

Patient unfed in >7 days with evidence of stress and depletion Prolonged intravenous hydration

S OURCE : Adapted with modification from Solomon SM, Kirby DF.

The refeeding syndrome: a review J Parenter Enteral Nutr 1990;14:

90–97.

carbohydrate diet results in intracellular shifts of

serum potassium The clinical manifestations of

hypokalemia include electrocardiogram (ECG)

changes, cardiac arrhythmias, constipation, ileus,

glucose intolerance, neuromuscular weakness,

are-flexia, and rhabdomyolysis

4 Hypomagnesemia: Magnesium is a major

compo-nent of the intracellular space and is a cofactor in

many enzyme systems In the absence of

replace-ment, serum levels fall during anabolic conditions

The clinical sequel of hypomagnesemia includes

cardiac arrhythmias, anorexia, weakness,

hypocal-cemia, tetany, and seizures

• Avoiding refeeding syndrome: Risk is greatest during

the initial phase nutritional therapy in patients with

severe forms of malnutrition (Table 190-2) 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 of catch-up growth, long-term

studies suggest persistent learning, development, and

intellectual delays in older children with past history

of NOFTT Better school-age development and

adap-tive outcomes are linked to a more favorable family

environment

Drotar D, Sturm L Influences on the home environment of

pre-school children with early histories of nonorganic

failure-to-thrive J Dev Behav Pediatr 1989;10:229–235.

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sub-of overweight status and risk for obesity is throughcomparison of weight-for-height ratios Since weightand height change throughout childhood and adoles-cence, the cutoff points used to define overweight areage and gender dependent

• Overweight and risk for obesity are best determined byassessing weight while taking length/height into con-sideration This is done with the aid of growth charts,and by calculating weight-for-height ratios, i.e., bodymass index (BMI) and percent ideal body weight(%IBW)

• Weight-for-length/height growth charts (see www.cdc.gov/growthcharts) are helpful for screening overweight or underweight status in infants and prepuber-tal children

• BMI is the most widely used tool to screen for weight and risk for obesity BMI (kg/m2) is calculated

over-by dividing the weight (kg) over-by height in meterssquared (m2) BMI-for-age and gender growth chartsare available for children and adolescents aged 2–20years (see www.cdc.gov/growthcharts) BMI per-centile >95th percentile signifies overweight statuswhile ≥85th and <95th percentiles represent risk foroverweight BMI exceeding the 95th percentile war-rants an in-depth medical assessment for obesity (seefurther) For adults, BMI in the range of 25–29 kg/m2

represents risk for overweight, and ≥30 kg/m2 sents overweight

repre-• Calculation of %IBW is helpful for classifying ity of overweight and obesity The IBW is the medianweight (50th percentile) for the measured height.Therefore dividing actual weight by IBW and multi-plying by 100 determines the %IBW A percentage of120–139% represents mild overweight; 140–160%represents moderate overweight; and >160% severeoverweight Use of %IBW classification complements

sever-CHAPTER 191 • OBESITY 603

BMI since there’s no BMI categorization beyond the

97th percentile Furthermore, %IBW enables tracking

changes in smaller increments than would be detected

by BMI calculations

EPIDEMIOLOGY

• The prevalence of overweight (body mass index >95th

percentile) among children in the United States has

steadily increased over the past 20 years Data from the

National Health and Nutritional Examination Survey

(NHANES) in 1999–2000 revealed that >10% of

2–5-year-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

over-weight was among non-Hispanic Blacks and

Mexican-American children Among non-Hispanic Black

children of all ages, the prevalence of overweight

increased from 13% (1988–1994) to 24% (1999–2000)

Among Mexican-American children of all ages,

over-weight status increased from 14% (1988–1994) to 23%

(1999–2000)

PATHOPHYSIOLOGY

• Three critical periods during human development

have been identified where physiologic interactions

increase the later prevalence of obesity They include

fetal life, the period of adiposity rebound, and

adoles-cence Infants born to diabetic mothers are usually

large for gestation age at birth, tend to normalize by

age 1 year; however, by 5–6 years have an increased

prevalence of overweight that persists through

adoles-cence Adiposity rebound is the developmental period

normally occurring between ages 6 and 8 years when

there is rapid deposition of body fat stores Children

with early onset of adiposity rebound, i.e., before age

5.5 years, have a longer duration of body fat

deposi-tion and thus at greater risk for persistence of obesity

into adolescence Adolescent development is

associ-ated with rapid growth and redistribution of body fat

stores Likewise, during adolescence there’s increased

risk of onset and persistence of obesity especially

among females

• The rapid surge in overweight and obesity in the United

States over the past 20 years affecting all segments of

the population and regions of the country is inconsistent

with a primarily genetic or biologic change in the

popu-lation Therefore environmental factors are increasingly

being accepted as significant contributors to obesity

The basic problem is an imbalance between energy

intake and expenditure Abnormal weight results fromnormal or increased food intake accompanied byincreased physical inactivity Risk factors for over-weight and obesity in childhood include obesity in one

or both parents, low social class in western societies,affluence in developing countries, single parent family,high levels of television watching, energy-dense/high-fat diet, disorganized eating patterns, and specific chro-mosomal, genetic, and endocrine disorders

CLINICAL EFFECTS ASSOCIATED WITH OVERWEIGHT

• Impaired glucose tolerance and increased prevalence

of type 2 diabetes Children diagnosed with type 2diabetes are at increased risk as young adults for com-plications such as kidney failure, miscarriages, blind-ness, amputations, and even death

• Increased risk for hyperlipidemia (increased serumcholesterol, low high-density lipoprotein [HDL] cho-lesterol, and hypetriglyceraldemia) and associated car-diovascular disease (hypertension and atherosclerosis).Fatty streaks have been found in coronary arteries ofoverweight children as early as age 10 years

• Overweight children are at increased risk for hepaticsteatosis, gallbladder disease, gastroesophageal reflux,respiratory illnesses and orthopedic disorders

• Sleep disturbances including sleep disordered ing, snoring, sleep apnea, daytime sleepiness, restlesssleep, and nocturnal enuresis These may be diagnosedbased on clinical history and assessment, and in somecases, a sleep study

breath-• Dyspnea on exertion is also common in very weight children Symptoms include coughing, respira-tory distress, chest pain, and pallor with increasinglevel of physical activity

over-• Social ostracism, emotional, and social difficulties quently occur and can severely affect overweight chil-dren through adolescence and into adulthood

fre-SYNDROMES ASSOCIATED WITH OVERWEIGHT

• Evaluation of overweight should include screening formedical and genetic syndromes associated with over-weight Generally, endocrine and genetic syndromesare associated with overweight and short stature (seeTable 191-1)

ASSESSMENT

• BMI should be used routinely to screen for overweightstatus in all children aged 2–20 years Children and

adolescents with BMI ≥85th percentile but <95th

per-centile are considered at risk for overweight, should

undergo a second level screen involving family history

of hyperlipidemia, cardiovascular disease risk, and

should also be identified for follow-up and counseling

for weight maintenance Those with BMI >95th

per-centile should be considered as overweight In-depth

medical follow-up to determine underlying diagnoses is

required The specific guidelines for assessment of

over-weight in adolescence (beginning of puberty to

comple-tion of growth and physical maturity) are outlined in

Fig 191-1 In general prepubertal children and

adoles-cents identified with BMI within the range of

over-weight should be counseled as follows:

1 It is important to ask specific questions about

fre-quency of meals and snacks, fruit and vegetable

intake, and junk food and fast food intake Sweetened

beverage intake, such as juice, soda pop, lemonade,

iced tea, and so on should be quantified This

infor-mation about actual dietary intake should be

com-pared to the recommended United States Department

of Agriculture (USDA) guidelines, such as eating five

servings of fruits and vegetables each day (www

usda.gov/cnpp) Consistent discrepancies should be

identified Uncovering other risk factors such as

pro-longed bottle use is also important

2 Frequency and types of physical activity patterns

should be identified Because hours of television

watching per day are positively associated withdegree of overweight, it is important to also askabout hours of television watching per day

3 As part of the physical examination, blood sure should be obtained, making sure that the cuff isthe appropriate size The presence of acanthosisnigricans (darkening of the skin) possibly associatedwith insulin resistance should be noted Since thy-roid disease can be a cause of obesity, palpation ofthe thyroid should be done Pubertal status should

pres-be assessed to provide indication about potential forlinear growth

4 Laboratory evaluation should include a fastinglipid profile for all overweight and at risk foroverweight children A fasting glucose level and

an insulin level may be helpful to determine thepresence of abnormal glucose tolerance Otherlaboratory evaluations, such as free thyroxin andthyroid stimulating hormone (TSH) (to excludehypothyroidism) and a 24-hour urine-free cortisoland creatinine (to exclude Cushing syndrome)should be obtained when indicated, especiallywhen the height curve shows a decline in heightpercentiles

5 A sleep study, endolateral neck x-ray, chest x-ray,and exercise stress testing should be done whenhistory and/or physical examination suggest sleepdisturbances and dyspnea on exertion

TABLE 191-1 Syndromes Associated with Overweight

and creatinine excretion

A BBREVIATION : T4, thyroxine; FISH, fluorescence in situ hybridization.

Poor growth, ovarian dysgenesis, broad chest, webbed neck, renal anomalies, renal impairment

Poor growth, round facies, short metatarsals and metacarpals, subcutaneous calcifications, developmental delay, cataracts, dry skin, brittle nails

Truncal obesity, retinitis pigmentosa, hypogenitalism, digital anomalies, nephropathy

Irregular or absent menses, hirsuitism, acne, acanthosis nigricans

Hypotonia and feeding problems in infancy, hyperphagia in childhood, developmental delay, hypogonadism, poor growth, small hands and feet

Truncal obesity, acne, hypertension, glucose intolerance, hirsuitism, excess adipose tissue, moon facies, straie

Short stature, coarse hair, constipation, decreased energy level, delayed sexual maturation, cold intolerance

CHAPTER 191 • OBESITY 605

THERAPY

• The foremost treatment goal for overweight children

and adolescents is diet and lifestyle change, which

involves establishing healthy eating and physical

activ-ity patterns Clinicians need to stress to patients and

families that management of overweight will not consist

of short-term diets aimed at quick and drastic weight

loss, but should focus on family changes to achieve

weight maintenance For children with secondary

com-plications of obesity, improvement of the complication

is another important goal Complementary approaches

like restrictive diets, pharmacotherapy, and bariatric

sur-gery have not received wide acceptance in pediatrics;

however, they may be considered with some success

especially in adolescents with severe obesity associated

with complications

D IET AND L IFESTYLE C HANGE

• Early screening, counseling, and anticipatory guidance

make goals easier to reach and prevent overweight at a

later age This may be accomplished through the

regu-lar use of the updated Centers for Disease Control and

Prevention (CDC) BMI-for-age growth charts With

preschoolers, habits are more malleable, and parents

can still effectively change eating and physical activity

patterns Also, with younger children, a smaller shift in

energy balance can produce substantial improvement

in degree of overweight Furthermore continuing lineargrowth with weight maintenance will improve theweight-height relationship and work to the patient’sadvantage

• Modifying behaviors gradually allows success to beachievable, which builds confidence and inspires thepatient and family to continue confronting the problem

of overweight For example, small changes in eatinghabits can involve keeping only low-fat snacks at home,

or eating less fast food meals

• Physical activity can be slightly increased by includingsmall bouts of activity throughout the day like takingstairs whenever possible Also, the family can start con-trolling its sedentary activities by limiting televisionviewing to 2 hours a day Regular follow-up allows cli-nicians to foster lifestyle change in small steps, closelymonitor intervention effectiveness, and provide repeatedpositive reinforcements

• The family’s specific barriers to implement behavioralchange must be reassessed at every visit and goals fur-ther adapted to the family needs Initially, it is helpful

to see patients every 1–2 months to assess progressand obstacles Eventually, the followup visits can beless often

• Patients should be referred to a specialist, such as anutritionist, if weight management attempts are not

BMI, kg/m2

>95th percentile Overweight

≥85th to 95th percentile

At risk for overweight

<85th percentile Not at risk for overweight

In-depth medical assessment

• Note in chart

• No therapeutic action

• Return next for screen

If any positive

If all negative

Return next year for screen

FIG 191-1 Algorithm for screening and evaluation of overweight status based on BMI-for-age

and gender Adapted from Himes JH, Dietz WH Guidelines for overweight in adolescent preventive

services: Recommendations from an expert committee Am J Clin Nutr 1994;59:307–316.