Beruflich Dokumente
Kultur Dokumente
3 March 2008
contents
75
86
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Index of Suspicion
Courtney Peshkovsky, Robert J. Leggiadro, Lauren Kupersmith,
Seth Septer, Cristina Fernandez, Fernando Zapata
In Brief
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Internet-Only Article
Abstract appears on page 107.
e15
Article
sports medicine
Author Disclosure
Dr Metzl did not
disclose any financial
relationships relevant
to this article.
Objectives
Introduction
With increasing numbers of young athletes participating in sports activities across the
United States, the issues of sports participation, sports safety, and specific return-to-play
decisions have become more common in the pediatric office. Athletic patients and their
families are turning increasingly toward the pediatrician for guidance and safe decisionmaking regarding sports participation and injury prevention.
This article examines specific issues that pediatricians and pediatric residents in training
should encounter during the practice of general pediatric medicine. These issues include
concussion, cervical spine injury, and ankle injury. Case-based teaching examples are used
to illustrate teaching points.
Assessment
Concussion refers to a significant head injury that may cause a host of signs and symptoms,
including alterations in consciousness, confusion, amnesia, visual and hearing impairment,
irritability and mood changes, difficulties with balance, headache, lethargy, insomnia,
memory impairment, nausea, and vomiting.
*Assistant Professor, Department of Pediatrics, Hospital for Special Surgery, Cornell Medical College, New York, NY.
Pediatrics in Review Vol.29 No.3 March 2008 75
sports medicine
Common Sports
Characterized by Level of
Contact
Table 1.
High-contact Sports
Basketball
Football
Soccer
Martial Arts
Rugby
Medium-contact Sports
Baseball
Fencing
Cheerleading
Skiing
Volleyball
Noncontact Sports
Running
Swimming
Tennis
Weight Training
sports medicine
letes who sustain head injuries become totally symptomfree and do not need major intervention. Extensive neuropsychological testing is indicated for the minority of
patients in whom there is a question about the cumulative effects of concussion or in whom there may be
permanent academic impairment and questions about
further participation in contact sports.
Postconcussive Syndrome
Whenever an athlete suffers a concussion, it is important
to advise both the athlete and his or her parents about the
possibility of postconcussive syndrome. Postconcussive
syndrome involves residual symptoms from a concussion,
including headache, dizziness, irritability, and difficulty
concentrating. These symptoms can exist after any concussion, regardless of severity. The appearance and persistence of postconcussive symptoms is more likely with
more severe concussion.
A repeated episode of concussion can result in a
prolonged period of concussive and postconcussive
symptoms and, therefore, a much greater period of time
away from sports participation. A less common but much
more severe consequence of concussion is the development of second impact syndrome (SIS), rapid and progressive brain injury resulting from a second episode of
closed-head injury while the athlete still is symptomatic
from the first episode. In this entity, an athlete who still is
recovering from an initial concussive episode is struck in
the head. The result is rapid mental deterioration, mental
status change, and often fatal uncal herniation.
SIS is associated with a mortality rate of 70% to 80%
but is completely preventable through the prompt recognition of concussive and postconcussive symptoms.
The presence of this entity, although rare, demonstrates
further the need to keep athletes out of any situation
involving direct head trauma until recovery is complete.
Prevention
One final note on concussion involves the screening of
athletes. As in many types of injury that create a predisposition to future injury, athletes who have had one
concussive episode are nearly six times more likely to
have a second episode of concussion compared with their
unaffected peers. Therefore, effective preseason counseling about the symptoms of concussion involves asking
about the history of previous concussive events. In addition, it is important to stress the importance to athletes,
particularly those who have had previous concussive
events, of reporting postconcussive symptoms during the
season.
Prevention involves the creation of an increased
awareness in coaches and athletic trainers who might be
involved with the care of a young athlete who had a
concussive predisposition in previous seasons. Mouthguard use in high-contact sports, in addition to reducing
oral and dental injuries, is theorized by some to reduce
the risk of concussion and should be strongly encouraged
in all athletes. All of this advice and surveillance can be
accomplished during the preparticipation evaluation and
can ensure greater safety by targeting athletes who are at
greater risk and creating both an educational and health
supervisory framework on their behalf.
Unlike professional athletes who are paid to put their
Pediatrics in Review Vol.29 No.3 March 2008 77
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bodies at risk for money, pediatric and adolescent athletes are volunteer athletes. Therefore, special care
should be given to protect against closed-head injury
and, more importantly, to ensure that the athlete has
recovered completely before he or she returns to sports
participation.
The Centers for Disease Control and Prevention supply information for patients, parents, and clinicians that
provides guidance in the management of head injuries at
http://www.cdc.gov/ConcussionInYouthSports/ and
http://www.cdc.gov/ncipc/tbi/Facts_for_Physicians_
booklet.pdf.
Preparation
The appropriate sideline management of the acute cervical spine injury starts with effective preparation. Rather
than waiting for an injury to occur before devising a
algorithm for treating a cervical spine injury on the field,
treatment protocols are implemented best before the
start of the sports season.
The essential elements in preseason event preparation
for a cervical spine injury include:
1) On-site emergency personnel or the ability to access emergency medical services through the use of a
charged cell phone that is fully accessible during the
sporting event.
2) Discussion with a certified athletic trainer who is
most likely to be on the sideline regarding responsibility
in the case of a cervical spine injury.
78 Pediatrics in Review Vol.29 No.3 March 2008
On-field Management
Appropriate on-field management of a suspected cervical
spine injury follows a similar protocol to basic life support, which begins with a focus on airway management,
breathing, and circulation (ABCs). In the United States,
American football poses the greatest risk for cervical
spine injury and accounts for approximately 50% of such
injuries in youth sports. Cervical spine injuries also can
occur during water sports, particularly diving, when an
athlete hits the water at a high velocity with the neck
flexed, similar to the spear tackle in football.
When approaching the athlete who is suspected of
having a cervical spine injury, an initial desire to assess
and treat the neck directly is common. Appropriate management of the injured cervical spine, however, begins
with assessment of the ABCs while attempting to keep
the head and neck in a stable position. If the injury occurs
in football, an appropriate initial step includes listening
for breathing or putting a hand beneath the jersey and
shoulder pads to check for thoracic expansion. If the
athlete is unconscious, it is imperative to establish the
airway first, which includes assuring that the tongue is
not obstructing the airway. The football helmet never is
removed on the field. If the airway is obstructed, the face
mask should be removed, but the helmet and shoulder
pads should remain in place to ensure neutral alignment
of the cervical spine.
If the athlete is found in the prone position, establishing airway control can be difficult. Treating the prone
athlete involves initial assessment of the airway. If the
athlete is unconscious and not breathing, the airway is
established in the supine position. In this scenario, the
log roll technique (Fig. 1) is used to move the patient to
the supine position. This technique, which should be
practiced before any injury occurs, involves rolling the
injured player by two assistants controlling the body and
the team leader controlling the head. It is essential to
keep the head turning at the same speed as the body to
lessen any chance of additional injury to a potentially
unstable cervical spine.
sports medicine
Prevention
Prevention of cervical spine injury is an important consideration for the pediatrician. Effective prevention includes the use of proper-size equipment during practice
and games, proper coaching and refereeing that discourages risky tackling, and strengthening programs that
involve sport-specific exercises for the prevention of cervical spine injury.
Pediatrics in Review Vol.29 No.3 March 2008 79
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Returning to Activity
Athletes who are suspected of having a cervical spine
injury but have normal radiographic findings can be
returned safely to activity when:
1) There is no pain with motion of the cervical spine.
2) There is no pain with palpation of the cervical
spine.
80 Pediatrics in Review Vol.29 No.3 March 2008
History
As with all medical problems, obtaining a history is an
essential first step in the diagnostic approach to injury
(Table 2). In this case, the mechanism of injury, rolling
of the ankle, needs proper clarification. One helpful
method of assessment is to ask the patient to demonstrate
the mechanism of injury in the uninjured extremity. The
most common mechanism, the inversion injury, accounts
for approximately 80% of ankle injuries and is the result
of a twisting or rolling of the ankle when stepping into a
hole or running on an uneven portion of the field. In
contrast, the eversion injury, a less common and more
sports medicine
Figure 6. Lateral view of the cervical spine showing straightening of the normal cervical lordosis but otherwise no evidence of bony abnormality.
Physical Examination
The physical examination begins with observation and
inspection. Observation of how a patient is walking is
essential and can assist greatly in differentiating the more
serious fracture from the less serious ligament injury.
Inspection for swelling and ecchymosis also is important;
swelling often is noted in the area of injury in many foot
and ankle injuries.
fracture with cervical instability. This patient requires complete immobilization and immediate referral to a trauma
center for consultation with an orthopedic spine specialist or
neurosurgeon.
sports medicine
Important Questions to
Ask of an Athlete Who Has an
Ankle Injury
Table 2.
Further Studies
Radiographs of the ankle and possibly of the foot are
indicated in any suspected bony injury. Bony injury
usually is accompanied by swelling and pain. Ankle views
should include anteroposterior (AP), lateral, and mortise
views of the ankle, which provide a complete assessment
of the bony architecture (Figs. 10 and 11). In the case of
a suspected lateral foot injury to the fifth metatarsal, AP,
lateral, and oblique views of the foot are indicated.
Prevention
sports medicine
This view is taken with the ankle plantar flexed and the foot
rotated inwards, thus exposing the spatial relationship around
the talotibial and talofibular joints in the ankle. Alteration of
these spaces, which should be equal, as shown in this radiograph, suggests ligamentous instability in the ankle.
sports medicine
Reference
1. McCrory P, Johnston K, Meeuwisse W, et al. Summary and
agreement statement of the 2nd International Conference on Concussion in Sport, Prague 2004. Clin J Sport Med. 2005;15:48 55
Recommended Reading
The Pediatric Clinics of North America, June and August, 2002.
Both editions are dedicated to pediatric sports medicine and are
very helpful.
Pediatric Annals, 2000;29(3) and 2002;31(1). The first number is
orthopedic-focused and the second is focused on medical sports
issues (ie, concussion).
American Academy of Pediatrics. Care of the Young Athlete. Elk
Grove, Ill: American Academy of Pediatrics; 2002, 2008 (in
press). This book is very helpful and comprehensive.
Sports Medicine: The School-aged Athlete. Philadelphia, Pa: Saunders;
1997. An excellent resource for the office that is orthopedicfocused and covers most adolescent sports injuries.
Sports Medicine in the Pediatric Office: Multimedia Text with DVD
Companion. Elk Grove Village, Ill: American Academy of Pediatrics; 2007. This comprehensive book uses both written material and DVD/video technology to teach musculoskeletal skill
examination technique.
sports medicine
PIR Quiz
Quiz also available online at www.pedsinreview.org.
1. Which of the following statements about current understanding and management of head injury is true?
A.
B.
C.
D.
E.
2. The management of a suspected cervical spine injury in an athlete who is lying prone on the field can
include all of the following except:
A.
B.
C.
D.
E.
Assessment of breathing.
Assessment of circulation.
Removal of the face mask.
Removal of the helmet.
Use of the log roll to bring the athlete to a supine position.
3. In the United States, a cervical spine injury is most likely to occur in which of the following sports?
A.
B.
C.
D.
E.
Basketball.
Football.
Lacrosse.
Soccer.
Wrestling.
4. Of the following, the most common reason for an ankle injury in an athlete is:
A.
B.
C.
D.
E.
Flat feet.
Improper shoes.
Incorrect training methods.
Participation in a contact sport.
Presence of a previous ankle injury.
Article
cognition
Author Disclosure
Dr Plauche Johnson
did not disclose any
Objectives
financial relationships
relevant to this
article.
Introduction
Primary care physicians (PCPs) caring for 1,000 children in a general practice should
expect approximately six of their patients to meet the diagnosis of an autism spectrum
disorder (ASD). (1) The impact of this prevalence is illustrated by a 2004 survey of PCPs
revealing that 44% cared for 10 or more patients who had an ASD. (2) The ASDs include:
autistic disorder (AD), Asperger disorder, and pervasive developmental disordernot
otherwise specified (PDD-NOS), a threshold term used when a child meets some but not
all criteria necessary for a diagnosis of either AD or Asperger disorder.
Research has documented the positive benefit of developmental and behavioral intervention for children who have ASDs, particularly when it is initiated prior to 3 years of age.
(3) Early recognition of ASDs also is important for timely genetic counseling because
younger siblings of children diagnosed as having ASDs have a 10 times increased risk of
also having an ASD. The purpose of this review is to help the clinician recognize signs of
ASDs that occur before age 2 years. Because the signs of Asperger disorder usually appear
later, they are not discussed. The term autism is used in this review to represent both AD
and its milder form, PDD-NOS.
Currently, autism is diagnosed infrequently in children younger than 3 years of age. The
diagnostic process is prompted most often by parental concern about absent or delayed
speech. However, signs of autism, especially deficits in social skills and in preverbal gestural
language, are present in most children by 18 months of age. Such signs are subtle and may
not be noticed by parents. New information regarding very early signs of autism is
emerging through prospective studies of high-risk infant siblings. (4) Using these early
red flags, one study reported that approximately 50% of affected children could be
diagnosed reliably by 14 months of age. (5) To facilitate earlier recognition through
surveillance and screening strategies, the American Academy of Pediatrics (AAP) has
published two guidelines: Identifying Infants and Young Children with Developmental
Disorders in the Medical Home: An Algorithm for Developmental Surveillance and
Screening (6) and Identification and Evaluation of Children with ASDs. (7) In an effort
to lower the average age of diagnosis and promote earlier access to intervention services,
these guidelines recommend ongoing surveillance for autism (and general development) at
every health supervision visit in all children and heightened surveillance in high-risk
younger siblings. An increased awareness of early signs of autism can facilitate surveillance
and enable PCPs to play a key role in early recognition that, when coupled with earlier
access to appropriate interventions, could improve outcomes markedly.
cognition
recognition of autism
cognition
recognition of autism
Joint Attention
The single most distinguishing characteristic of very young
children who have autism is a deficit in joint attention
(JA) that is discrepant from overall functioning. JA is a
normal, spontaneously developing behavior that demonstrates the childs joy in sharing an object or event with
another person. It is triadic; the child alternates attention
between an object/event and another person by looking
back and forth between the two and connecting. It is a
core feature of the DSM-IV-TR criteria and a critical component of current autism screening and evaluation tools.
JA may be classified as: 1) spontaneous when the
child looks back and forth between an interesting
object/event and the caregiver to share interest, 2) responding when the child looks in the direction indicated by the pointing of a caregiver and connects, and
3) initiating when the child points to an object/event
to establish a connection with another person. As with all
developmental skills, JA appears to develop in graduated
stages. At 8 to 10 months of age, the typically developing
infant, while socially engaged with his or her mother, will
follow the mothers gaze if she shifts her eyes away from
the infant to look at an object or event across the room.
This action leads to sharing in a mutual experience.
Children who have autism often take no notice of the
shift in gaze. At about 10 to 12 months of age, a child can
follow a point. For example, if a parent sees something
of interest, points in its direction, and says, Oh look!,
the typically developing child looks in the direction that
the parent is pointing. On seeing the object of interest,
the child looks back at the parent and may smile (or
frown if the object is frightening). If the object is unfamiliar or the infant does not see the object, he or she may
look back quizzically at the parent. True JA requires the
child not only to follow the point, but to look back at the
caregiver and connect socially. A child who has autism
often is oblivious to the parents bid or may look briefly at
the object with little interest but does not look back at
the parent to connect.
cognition
Social Orienting
Social orienting is the ability to orient to verbal stimuli, in particular, turning to respond to ones own name
being called. At about 8 to 10 months of age, most
typically developing children consistently turn their
heads toward the speaker when their names are called.
Children who have autism usually do not, prompting
parents to call louder or tap their childs shoulder in an
effort to get a response. Parents may begin to have
concerns that their child cannot hear. With greater vigilance, they realize that the child seems to hear well in
other situations. This dichotomy occurs because children
who have autism often attend to environmental sounds
extremely well but ignore human voices. Retrospective
evaluations of birthday videos of 1-year-old children later
diagnosed as having autism have demonstrated that
blinded viewers could recognize autism with accuracy
at this age. (12)(13) The best distinguishing factor was
failure to orient to name because JA pointing skills may
not be universally present in typically developing children at 1 year of age. Newer prospective studies of
high-risk infant siblings later diagnosed with autism have
confirmed this finding. (14)
recognition of autism
Clinical Probe for the 12-month Health Supervision Visit: The PCP can evaluate the childs ability to
orient socially by calling out his or her name and noting
whether the child turns and connects. If he or she does
not, the PCP should try again. Typically developing
children usually respond by the second trial.
cognition
recognition of autism
cognition
Other prelinguistic language deficits overlap with social skills. For example, not responding to ones name
being called (previously discussed in the section on social
orienting) traditionally has been considered a receptive
language deficit, but recent studies of infants later diagnosed with autism have revealed that the deficit is linked
more closely to the infants lack of social relatedness than
to a deficit in receptive language or auditory comprehension. (14) The possibility of a hearing loss also must be
considered, but as noted previously, children who have
hearing impairments fail to orient to both social and
environmental sounds.
Clinical Probes for the 9- and 12-month Health
Supervision Visits: Does your baby . . .
Look at you when you are speaking?
Babble? If yes, also ask . . . Does he or she take turns
vocalizing back and forth with you? Are vocalizations becoming more varied in terms of types of
sounds and length of sequences? Are these associated
with a growing repertoire of gestures?
Wave bye bye? Raise his or her arms to be lifted?
Hear your voice as well as he or she hears environmental sounds?
Make any unusual vocalizations or laugh inappropriately?
recognition of autism
If hearing is normal but receptive language is delayed, the PCP must consider the possibility of autism
or GDD; a wait and see approach is not appropriate. In such a case, the PCP should refer the child
immediately to a developmental or autism specialist
(or a team of specialists) and to an early intervention
program. (7) The clinician should not delay; a definitive diagnosis is not necessary to begin intervention. Staff can begin an intervention program that is
tailored to the childs deficits, and if necessary, the
strategies can be revised after a diagnosis becomes
evident. Unfortunately, parents of children who have
autism sometimes complain that they received inappropriate reassurance regarding their concerns, the
clinician counseled a wait and see approach, and
referrals were delayed.
Clinical Probes for the 12- and 15-month
Health Supervision Visits: The AAP has recommended formal screening for developmental skills at
9, 18, and 24 or 30 months of age using standardized
tools that include social and language milestones.
These tools also can provide useful probes for the 12and 15-month visits. Developmental tools are described in both the AAP Developmental Surveillance
and Screening (6) and ASD (7) guidelines. Selected
tools are included in the AAP ASD Toolkit (11).
Language Regression
Approximately 25% to 30% of children later diagnosed
with autism seem to develop normally and then regress.
Parents may report that children stopped talking and
gesturing (eg, pointing, waving bye) and made less eye
contact. Such autism regression usually occurs between 15 and 24 months of age, with most occurring
between 18 and 21 months. Although children appear to
develop normally until the regression, recent prospective
studies have revealed that some children have subtle
social and language deficits prior to regression. (13) (15)
Loss of language skills is not pathognomonic for autism;
it occurs in Rett syndrome and other neurodegenerative
disorders. Loss of speech associated with seizures is characteristic of Landau-Kleffner syndrome, but regression is
later (usually older than 3 years) and not associated with
loss of eye contact or social skills. Sleep electroencephalographic tracings in affected children often are characteristic.
Pediatrics in Review Vol.29 No.3 March 2008 91
cognition
recognition of autism
Atypical Language
In addition to delays, children who have autism may
demonstrate atypical language during their second
year. Such atypicalities sometimes can give the false
impression of advanced speech, but the
speech is echolalic, ritualistic, and not functional.
Most typically developing children pass through a
stage where they imitate or echo anothers speech
(echolalia). They repeat the last one or two words of
the sentence they have just heard. Echolalia usually is
a temporary phenomenon and occurs when toddlers
are rapidly gaining new words. Echolalia is classified as
immediate (parroting that occurs immediately after
the partners vocalization) or delayed (parroting that
occurs at a later time). Whereas typically developing
children demonstrate the immediate variety, children
who have autism demonstrate both types. Autistic
echolalia also is much more pervasive and enduring
and includes larger chunks of verbal material. Children who have autism may demonstrate exceptional
verbal memory linked to echolalia and recite nursery
rhymes, advertisement jingles, or the ABCs at much
younger ages. The complexity of such speech utterances can mask true deficits in both functional speech
and receptive language skills. For example, a child may
be able to recite the ABCs or sing a television advertisement jingle but be unable to ask the parents for a
drink or follow a command. Unless this discrepancy
between echolalic and functional language is recognized, a speech deficit may be overlooked.
Some children who have autism, especially those who
are of normal intelligence, may become obsessed with
labeling colors, shapes, and numbers, yet they are unable
to use the terms in conversation or point to them on
request. Unlike typically developing toddlers, they demonstrate less interest in common everyday objects or
pictures in books and rarely point to them to request new
words. They may use overlearned gestalt pseudophrases
92 Pediatrics in Review Vol.29 No.3 March 2008
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cognition
recognition of autism
Autism is not associated with a classic physical phenotype. More than 90% of children who have ASDs have
idiopathic ASD, meaning that the cause currently is
unknown and that there is no known associated syndrome. Such children look normal and have few, if any,
dysmorphic features (eg, posteriorly rotated ears). Some
of these children demonstrate accelerated head growth
beginning at about 6 months of age and continuing for
the next few months, sometimes to the point of macrocephaly. However, the head size often normalizes in late
childhood. The remaining 5% to 10% have an associated
syndrome (eg, fragile X syndrome, tuberous sclerosis,
phenylketonuria) and manifest the physical signs that are
characteristic of that syndrome. (16)
Clinical Strategy for All Health Supervision Visits:
Generally, most dysmorphic features are recognized at
birth; some may be subtle and require ongoing surveillance
as they become more prominent. The PCP should measure
the head circumference and plot head growth to monitor
for growth acceleration. Although the PCP should consider
the possibility of hydrocephalus, computed tomography scan
or magnetic resonance imaging often is not indicated
unless there are associated neurologic signs or other indicators for neuroimaging studies.
cognition
recognition of autism
or physician concern), the PCP should make three simultaneous referrals: to an early intervention or school program (depending on the childs age), to an ASD specialist
or team of specialists for a comprehensive evaluation, and
to audiology (if this has not already been done). If the
child has only one risk factor, the PCP should use an
appropriate screening tool based on the age of the child.
If the result is positive, the PCP should make the same
three referrals. If the results of the screening are negative,
an additional appointment should be made within 1
month to monitor progress and address any residual
concerns the parent or PCP might have in spite of a
negative screen. If there are no risk factors, the child
should be screened with an ASD-specific tool at 18 and
24 months. This process is described in much greater
detail in the AAP ASD clinical report. (7)
Whereas surveillance and screening are the responsibility of the PCP, the comprehensive evaluation may be
accomplished best by a specialist or team of specialists
who have expertise in autism. Such evaluations usually
include the following components: 1) a thorough history, including a three-generation pedigree; 2) a detailed
physical examination focusing on neurologic signs and
dysmorphic features; 3) thorough developmental or psychometric evaluations, depending on the childs mental
age and level of cooperation; 4) assessment with a standardized ASD tool (eg, ADOS) that operationalizes the
DSM-IV-TR criteria, or if not available, assessment of
the criteria themselves using clinical judgment; 5) an
assessment of the familys strengths and needs; and 6) an
etiologic search based on results of the first five components. The PCP may be involved in this process to
varying degrees, depending on the available local resources and his or her level of comfort.
Management
The PCPs most important role is to provide a medical
home, as with all children (www.medicalhomeinfo.org).
This can be more challenging for several reasons:
1) Many children who have ASD are unable to describe
their symptoms or localize their pain; 2) Care coordination can be complex due to a variety of practitioners
(developmental and behavioral specialists, pediatric subspecialists, therapists, teachers, social workers, vocational
staff); 3) Parents may be stressed and require more family
supports; 4) Children may have ongoing pica and continue to need lead screening; 5) Children may have
coexisting medical (seizures, nutritional), psychiatric
(anxiety, obsessive compulsive disorder), and behavioral
(aggression, sleep disorders) problems; and 6) Infant
siblings need heightened surveillance. The PCP also may
94 Pediatrics in Review Vol.29 No.3 March 2008
Conclusion
A growing body of evidence is revealing that many
children who have autism can be recognized before age 2
years. PCPs now have the opportunity to play a pivotal
role in early recognition. PCPs who recognize autism in
children younger than 2 years of age, refer them for
comprehensive evaluations, and help them enroll in appropriate early intervention programs benefit the chil-
cognition
References
1. Centers for Disease Control and Prevention. Prevalence of autism spectrum disordersAutism and Developmental Disabilities
Monitoring Network, 14 Sites, United States, 2002. MMWR Surveill Summ. 2007;56(SS-1):1228
2. Dosreis S, Weiner CL, Johnson L, Newschaffer CJ. Autism
spectrum disorder screening and management practices among
general pediatric providers. J Dev Behav Pediatr. 2006;27:
S88 S94
3. National Research Council, Committee on Interventions for
Children With Autism. Educating Children With Autism. Washington, DC: National Academies Press; 2001
4. Zwaigenbaum L, Bryson S, Rogers T, Roberts W, Brian J,
Szatmari P. Behavioral manifestations of autism in the first year of
life. Int J Dev Neurosci. 2005;23:143152
5. Landa R. Early communication development and intervention
for children with autism. Ment Retard Devel Dis Res Rev. 2007;13:
16 25
6. American Academy of Pediatrics, Council on Children With
Disabilities, Section on Developmental and Behavioral Pediatrics,
Bright Futures Steering Committee, Medical Home Initiatives for
Children with Special Needs Project Advisory Committee. Identifying infants and young children with developmental disorders in
the medical home: an algorithm for developmental surveillance and
screening. Pediatrics. 2006;118:405 420
7. Johnson CP, Myers SM. Council on Children with Disabilities.
Identification and evaluation of children with autism spectrum
disorders. Pediatrics. 2007;120:11831215
8. Lord C, Risi S, Lembrecht L, et al. The Autism Diagnostic
Observation Schedule generic: a standard measure of social and
communication deficits associated with the spectrum of autism. J
Autism Dev Disorder. 2000;30:205223
9. Stone WL, Lee EB, Ashford L, et al. Can autism be diagnosed
accurately in children under 3 years? J Child Psychol Psychiatry.
1999;40:219 226
10. American Psychiatric Association. Diagnostic and Statistical
Manual of Mental Disorders, Fourth Edition, Text Revision (DSMIV-TR). Washington, DC: American Psychiatric Publishing, Inc;
2000
11. AAP Autism Expert Panel. Autism: Caring for Children With
Autism Spectrum Disorders: A Resource Toolkit for Clinicians. Elk
Grove Village, Ill: American Academy of Pediatrics; 2007
12. Osterling JA, Dawson G, Munson J. Early recognition of
recognition of autism
Suggested Reading
Chawarska K, Volkmar FR. Autism in infancy and early childhood.
In: Volkmar FR, Klin A, Paul R, eds. Handbook of Autism and
Pervasive Developmental Disorders. 3rd ed. Hoboken, NJ: John
Wiley & Sons, Inc; 2005:223246
Johnson CP. Early clinical characteristics of children with autism.
In: Gupta VB, ed. Autism Spectrum Disorders in Children.
New York, NY: Marcell Decker; 2004:85123
Landa RJ, Holman KC, Garrett-Mayer E. Social and communication development in toddlers with early and later diagnosis of
autism spectrum disorders. Arch Gen Psychiatry. 2007;64:
853 864
Mitchell S, Brian J, Zwaigenbaum L, et al. Early language and
communication development of infants later diagnosed with
autism spectrum disorder. J Dev Behav Pediatr. 2006;27(2
suppl):S69 S78
Sigman M, Dijamco A, Gratier M, Rozga A. Early detection of core
deficits in autism. Ment Retard Dev Disabil Res Rev. 2004;10:
221233
Wetherby AM, Prizant BM, Schuler AL. Understanding the nature
of communication and language impairments. In: Wetherby
AM, Prizant BM, eds. Autism Spectrum Disorders. Baltimore,
Md: Paul H. Brookes Publishing Co; 2000:109 141
Autism Speaks, a nonprofit organization dedicated to increasing
awareness of autism and raising money to fund autism research,
together with First Signs, the leader in early identification and
intervention of children with developmental delays and disorders, and Florida State University, have developed a first-of-itskind web-based video glossary to help professionals learn more
about the early warning signs of ASDs. The glossary, available
free of charge at www.autismspeaks.org, www.firstsigns.org,
and http:// firstwords.fsu.edu, contains more than 100 video
clips that illustrate both typical and atypical development.
cognition
recognition of autism
PIR Quiz
Quiz also available online at www.pedsinreview.org.
5. Differences in pointing behaviors, as an example of joint attention, may be used in descriptions of
children believed to have autism. Mature joint attention is demonstrated best with a point whose purpose
is to:
A.
B.
C.
D.
E.
Comment.
Direct.
Distract.
Label.
Request.
6. Of the following, the best DSM-IV-TR-based criteria to identify children younger than 2 years of age who
have autism are:
A.
B.
C.
D.
E.
7. The failure of an 18-month-old child who has autism to respond to his or her name when called is believed
to be the result of deficits in:
A.
B.
C.
D.
E.
Auditory processing.
Cognition.
Hearing.
Receptive language.
Social relatedness.
8. Careful observation of typical children at play has been important in better understanding children who
have autism. Children who have autism rarely demonstrate evidence of:
A.
B.
C.
D.
E.
Constructive play.
Oral motor play.
Roughhouse play.
Sensory motor play.
Symbolic play.
index of suspicion
Author Disclosure
Drs Peshkovsky, Leggiadro,
Kupersmith, Septer, Fernandez, and
Zapata did not disclose any financial
relationships relevant to these cases.
alanine aminotransferase
aspartate aminotransferase
blood urea nitrogen
complete blood count
central nervous system
cerebrospinal fluid
computed tomography
electrocardiography
emergency department
electroencephalography
erythrocyte sedimentation rate
gastrointestinal
genitourinary
hematocrit
hemoglobin
magnetic resonance imaging
white blood cell
Case 1 Presentation
Case 2 Presentation
Case 3 Presentation
A 14-year-old boy is evaluated for
excessive nighttime eating. Since
early childhood, he awakens every
night around midnight and consumes large quantities of food, even
those he dislikes. Alarms, locks, and
punishment have not stopped this
habit. He remembers his eating in
the morning but has no remorse or
regret. In addition, he eats a small
breakfast and a lunch and dinner normal for his age. He has gained 50 lb
in the last year.
He has been evaluated by a pediatrician, psychologist, psychiatrist,
neurologist, and educational specialist; has been diagnosed as having
mild autism, obsessive-compulsive
disorder (OCD), and learning problems; and has been treated with
Pediatrics in Review Vol.29 No.3 March 2008 97
index of suspicion
Case 1
Discussion
bacterial coinfection, as well as associated urinary tract infection, are examples from recent literature.
In general, a clinician should suspect sepsis whenever a patient has fever
associated with behavioral changes
such as irritability, fussiness, lethargy,
poor feeding, and altered mental status. Tachycardia and tachypnea also
may reflect sepsis. Petechiae and purpura are well-known cutaneous indicators of possible sepsis, especially
meningococcemia. A weak cry and
jaundice may indicate sepsis in neonates. The presentation of sepsis depends on the competency of the
patients immune system. Subtle presentations can occur in young infants
and immunocompromised children,
with the clinical picture influenced by
the patients level of immunity.
The Agent
M catarrhalis is an aerobic, gramnegative diplococcus in the family
Neisseriaceae that commonly inhabits the upper respiratory tract (nasopharynx), with increased seasonal
colonization in fall and winter. M
catarrhalis can cause acute, localized
infection such as otitis media, sinusitis, conjunctivitis, and pneumonia in
children. Although it causes a large
proportion of cases of lower respiratory tract infection in elderly patients
who have chronic obstructive pulmonary disease and chronic bronchitis, this association has not been seen
in pediatric patients.
M catarrhalis generally is not
thought of as causing invasive, systemic disease (such as meningitis
and endocarditis) except in immunocompromised conditions, but documentation of bacteremia occurs in
children in rare instances. Risk factors for bacteremia include viral infection, sickle cell disease, malignancy, acquired immunodeficiency
syndrome, and other immunodeficient states. This child did not have
Therapy
More than 85% of M catarrhalis
isolates are ampicillin-resistant because of beta-lactamase production.
First-line antibiotics for focal infections (otitis media, sinusitis, pneumonia) are oral amoxicillin-clavulanate
or oral second- and third-generation
cephalosporins. Other antibiotics active against this organism include
macrolides, trimethoprim-sulfamethoxazole, and fluoroquinolones.
Sepsis generally is treated paren-
index of suspicion
Case 2 Discussion
The Condition
Differential Diagnosis
Many underlying conditions have
been associated with optic neuritis,
but it is not always possible to determine the specific cause for each
patient. Because as many as 85% of
cases are associated with a viral infection or recent immunization
(most commonly, measles-mumpsrubella), it is important to inquire
about a recent viral prodrome. Optic
neuritis also has been associated with
other infectious entities, such as
Lyme disease, varicella, syphilis, catscratch disease (Bartonella henselae
infection), pertussis, infectious mononucleosis, toxoplasmosis, brucella,
and tuberculosis as well as with toxocariasis and helminthic infestations.
Some of these infectious causes are
associated with distinct historic or
Pediatrics in Review Vol.29 No.3 March 2008 99
index of suspicion
physical findings. For example, patients who have Lyme disease may
have a positive travel history or a
history of a rash consistent with erythema migrans. Any preceding history of varicella or herpes zoster, especially in an immunocompromised
patient, is especially important because varicella-zoster virus infection
can progress from direct infiltration
of the optic nerve to retinal necrosis if
not treated appropriately.
The pathogenesis of the other
viral causes is a cell-mediated attack
on optic nerve myelin. However, the
pathogenesis of disease following
bacterial infection is less clear. In the
case of cat-scratch disease, gramnegative organisms tend to invade
endothelial cells, leading to an inflammatory response. A similar response within the retina can lead to
both generalized inflammation and
focal areas of endothelial cell damage
and proliferation. Such areas of retinal damage are consistent with funduscopic signs of neuroretinitis, including stellate macular exudates and
splinter hemorrhages. These findings
also can be seen in toxoplasmosis.
In the case of Borrelia burgdorferi
infection, the spirochete invades the
eye, causing direct inflammation of
the optic nerve. With syphilis, a vitreous cellular reaction typically is
present, most likely due to a direct
infection of the optic nerve. Syphilis
associated with optic neuritis also is
seen more commonly in immunocompromised patients.
Optic neuritis in adults classically
is associated with the development of
multiple sclerosis (MS); in children,
this association is not as substantial.
MS is a more likely cause if the child
presents with bilateral involvement
or has recurring episodes. Another
possible cause of optic neuritis is neuromyelitis optica or Devic syndrome.
In these patients, demyelinating lesions are found in the optic nerve or
100 Pediatrics in Review Vol.29 No.3 March 2008
Treatment
The current treatment of optic neuritis is administration of corticosteroids, but there are various protocols.
The Optic Neuritis Treatment Trial
recommends a 3-day course of highdose steroids followed by an 11-day
course of oral prednisone. (1) It also
is important to treat any infection
that may be present.
Prognosis
No extensive data address the prognosis of childhood optic neuritis. In
general, the prognosis for visual recovery is excellent regardless of therapy. In fact, it has been shown that
steroid treatment has no effect on
long-term outcome, only that patients recover visual acuity more
quickly when steroid therapy is initiated. The prognosis for optic neuritis
is worse for children who have bilateral presentation, MRI changes, and
recurring episodes because these features are associated with a higher risk
for developing MS. In one prospective study, bilateral optic neuritis in
combination with MRI white matter
lesions was associated most strongly
with development of MS. Conversely, of the patients they reviewed,
none who had normal MRI findings
developed MS after 2-year followup. (2)
Long-term follow-up of patients
diagnosed as having Devic syndrome
shows a poorer outcome and relapses. Of those patients experiencing multiple relapses, Devic syndrome may be the first presentation
of SLE, suggesting an autoimmune
etiology for optic neuritis in those
patients.
index of suspicion
References
1. Beck RW, Trobe JD, for the Optic Neuritis Study Group. What we have learned
from the Optic Neuritis Treatment Trial.
Ophthalmology. 1995;102:1504 1508
2. Wilejto M, Shroff M, Buncic J, et al. The
clinical features, MRI findings, and outcome of optic neuritis in children. Neurology. 2006;67:258 262
Case 3 Discussion
This boy had an eating disorder characterized by overeating at night in
conjunction with associated psychological problems, including OCD
and learning disability. His nighttime
eating was causing numerous problems, including a loss of sleep that
might be affecting his school performance. The long-term effects on his
health from the gain of 50 lb in 1 year
are significant and could include
metabolic syndrome, diabetes, hypercholesterolemia, and coronary artery disease. His eating pattern is
troubling socially and has been disruptive to the family.
Differential Diagnosis
Nighttime eating can have many
causes, including sleep-related eating
disorder (SRED), binge eating disor-
The Condition
As part of his evaluation, the patient
completed a diet log that revealed an
average consumption of 1,417 kcal
from 10:00 PM to 6:00 AM and consumption of 1,388 kcal during the
other 16 hours of the day (more than
50% of calories after the evening
meal). Nighttime eating was reported during 7 of 7 nights, and he
was fully aware of his eating. Anorexia was present each morning.
The boy also met criteria for depression (by use of a standard depression scale). This patient, therefore,
seemed to fit closely a diagnosis of
NES. The diagnosis of NES is difficult in pediatrics because criteria are
established only for adults.
Although first described in 1955,
NES was not studied extensively until the recent societal increase in obesity, and the disorder still is in the
early stages of investigation. Most research has been performed in adults,
and pediatric diagnostic criteria still
are being developed. The major
characteristics are evening or night
hyperphagia, insomnia with waking
to eat at night, and morning anorexia. Birkvedt and associates (1)
include additional criteria: consuming greater than 50% of total daily
calories at night, awakening at least
once per night, consuming a snack
during awakenings, having symptoms for at least 3 months, and not
meeting the criteria for bulimia or
binge-eating syndrome.
Although the criteria for inclusion
have changed over the years, the
central feature is a delay in the circadian pattern of eating. Circadian oscillators may signal food intake at a
different phase than is signaled normally, and the circadian timing of
food intake is delayed. Other problems associated with NES include
psychological disorders such as depression, anxiety, and low selfesteem. This boys learning problems
Pediatrics in Review Vol.29 No.3 March 2008 101
index of suspicion
References
1. Birkvedt GS, Florholmen J, Sundsfjord
J, et al. Behavioral and neuroendocrine
characteristics of the night-eating syndrome. JAMA. 1999;282:657
2. de Zwaan M, Roerig DB, Crosby RD,
Kraz S, Mitchell JE. Nighttime eating: a
descriptive study. Int J Eating Dis. 2006;39:
224 232
3. OReardon JP, Sunnkard AJ, Allison
KC. Clinical trial of sertraline in the treatment of night eating syndrome. Int J Eating
Dis. 2004;35:16 26
in brief
In Brief
Posttraumatic Stress Disorder
Nikeea Copeland-Linder, PhD, MPH
Johns Hopkins School of Medicine
and the Bloomberg School of
Public Health
Baltimore, Md.
Author Disclosure
Drs Copeland-Linder and Serwint
did not disclose any financial
relationships relevant to this In Brief.
in brief
sure, and stress management. The intervention addresses issues such as low
self-esteem, difficulty trusting others,
and risky behavior. Combined parentchild sessions as well as separate parent
sessions are used. Parent sessions help
parents process their feelings and distress related to their childs traumatic
exposure and assist them with effective
parenting skills. TF-CBT consists of
12 to 16 sessions. It has been recognized as a model program by the Substance Abuse & Mental Health Services
Administration and the United States
Department of Health and Human Services and has been classified as Selective and Indicated by the Institute of
Medicine.
Comment: PTSD has been acknowledged more in the media since September 11, with the war in Iraq, and as acts
of terrorism have become more common. However, events that occur in
everyday life, such as motor vehicle
crashes, homicides, intimate partner
violence, or even invasive medical procedures also must be recognized and
considered. Although the diagnosis can
be more challenging in younger children because symptoms of distress may
not be as obvious, PTSD may have more
pronounced effects on younger children because of the vulnerability of a
rapidly developing central nervous system. Societal barriers to mental health
counseling exist, and some urban families may find the inciting events to be
commonplace in their environments,
but health-care practitioners must be
vigilant for a suggestive history and
symptoms of PTSD and should present
therapy in a socially acceptable manner to help break the cycle and facilitate healing. Recognition and treatment of PTSD is imperative for the
ultimate optimal function of children
and families.
Janet R. Serwint, MD
Consulting Editor
in brief
In Brief
Enteral Feeding
Taryn E. Weissman, MD
Barry K. Wershil, MD
The Childrens Hospital at Montefiore
Bronx, NY
Author Disclosure
Drs Weissman, Wershil, and Adam
did not disclose any financial
relationships relevant to this In Brief.
in brief
Article
policy statements
Introduction
The American Academy of Pediatrics (AAP) has a strong and longstanding interest in the
field of bioethics and periodically publishes policy statements pertaining to specific ethical
questions relevant to pediatrics. The subjects addressed cover a wide range of topics, from
parental refusal of immunization to the care of critically ill children. These policies are
authored initially by the AAPs Committee on Bioethics and undergo extensive internal
review by other committees prior to publication.
This article is the second in a series of three intended to familiarize readers with many of
the AAP policies currently in place that address issues in bioethics. In this series, 16 policies
published by the AAP are summarized, each followed by a brief commentary. The
commentaries are intended to address, at least on a cursory level, some of the ethical
principles underlying the policies. Some briefly point out possible alternative viewpoints.
The policies referenced in this article represent the efforts of various committees and
committee members over the years. Each of the summaries presented here, as well as the
commentaries that follow, represents the work of an individual serving on the Executive
Committee of the Section on Bioethics, as indicated at the beginning of each summary.
Understandably, some of the wording of these summaries is taken directly from the
published policies. When quotations are used within a summary and not referenced, it can
be assumed that the quote is taken directly from the policy being summarized. For ease of
use, the references for each policy are provided with each individual summary and
commentary.
Author Disclosure
Drs Mercurio, Maxwell,
Mears, Friedman Ross,
and Silber did not
disclose any financial
relationships relevant
to this article.
Policies Reviewed
Part 1 of this series reviews:
1. Informed Consent, Parental Permission, and Assent in Pediatric Practice
2. Religious Objections to Medical Care
3. Responding to Parental Refusals of Immunization of Children
4. Sterilization of Minors With Developmental Disabilities
5. Human Embryo Research
Part 2 of this series reviews:
6. Guidelines on Forgoing Life-sustaining Medical Treatment
7. Forgoing Life-sustaining Medical Treatment in Abused Children
8. Do-Not-Resuscitate Orders for Pediatric Patients Who Require Anesthesia and
Surgery
9. Do-Not-Resuscitate Orders in Schools
10. Ethical Issues With Genetic Testing in Pediatrics
11. Ethics and Care of Critically Ill Infants and Children
Part 3 of this series reviews:
12. Female Genital Mutilation
13. Appropriate Boundaries in the Pediatrician-Family-Patient Relationship
14. Infants With Anencephaly as Organ Sources: Ethical Considerations
15. Palliative Care for Children
16. Institutional Ethics Committees
policy statements
bioethics
content/abstract/pediatrics;93/3/532.pdf. Reaffirmed
January 2004. Summary and comment by Mark R. Mercurio, MD, MA.
children should have the opportunity to participate in decisions about LSMT to whatever extent
their abilities allow.
5. Decisions for infants and young children should be
based on the best interest standard, which dictates
a choice based on the relative benefits and burdens
of the proposed treatment to the child. The Committee describes potential benefits as follows:
The benefits may include prolongation of life
(understanding that the continuation of biologic
existence without consciousness may not be a benefit); improved quality of life after the LSMT has
been applied (including reduction of pain or disability); and increased physical pleasure, emotional enjoyment, and intellectual satisfaction. (1)
Comment
It is widely agreed that, as the policy states, there is no
significant ethical difference between withholding and
withdrawing an LSMT. Nevertheless, many clinicians
have observed a psychological difference in that it often is
far more difficult for parents to agree to remove LSMT,
such as mechanical ventilation or intravenous nutrition/
hydration, than it is to agree not to initiate it.
The foundation of this guideline is the patients best
interest standard, which states that decisions should be
based on an assessment of the benefits and burdens of the
proposed treatment. Of course, that assessment often is
subjective, with the outcome of the analysis ultimately
being a value judgment. Whether the benefits of ongoing LSMT to the patient outweigh the burdens frequently is a matter of opinion. The guidelines state that
the values (and, hence, the opinion) of the family generally should prevail, rather than the values of the physician, with one notable exception: Medical professionals
should seek to override family wishes only when those
views clearly conflict with the interests of the child. The
word clearly, perhaps, is the most consequential in the
guideline.
An ethical gray zone may have various definitions, but
in this case, it is useful to think of it in terms of the childs
best interest. The ethical gray zone might be thought of
as the area wherein the best interest of the child cannot
be discerned easily. In some cases, the parents wishes
regarding LSMT clearly (in the opinion of the clinicians)
are consistent with the childs best interests, and no
conflict exists. In other cases, parental wishes clearly
(again, in the opinion of the clinicians) are opposed to
the childs best interests, and the guidelines rightly advise
that steps be taken to override parental wishes. Within
the gray zone, the physician might be uncomfortable
policy statements
References
1. Meisel A. The Right to Die. New York, NY: Wiley Law Publishers; 1989:295
bioethics
policy statements
bioethics
Comment
This is among the most tragic circumstances that a pediatrician may encounter in his or her practice. Because it is
only human to be enraged at the suffering of the most
vulnerable at the hands of those who abuse their power,
betray, and hurt them, it initially is counterintuitive to
accept the advice that decisions to forgo LSMT be based
on complete and compassionate communication with
the family, even if one or both parents are suspected of
causing the injury. However, additional reflection on
who we are as pediatricians and what our role and obligations are clarifies that we have been granted by society
the special mission of providing support for the parents
of critically ill children, which includes identifying for
them and offering them the possibility of meeting with
bereavement counselors, chaplains, or any other professional or group they may need in the midst of this
emotional and spiritual crisis.
The document also is on solid footing when it identifies the best interest of child as the primary focus when
considering whether to forgo LSMT and appropriately
advises that when the pediatrician suspects that the parent is not acting in the best interest of the child, an ethics
consult should follow in hopes of resolving the conflict. Indeed, an ethics consult can be very useful in
assuring the hospital administration that reasonable steps
were taken before proceeding to a court hearing. The
responsibility of the physician does not end when a court
appoints a guardian ad litem. Pediatricians need to function as child advocates, continuing to provide input so
the guardian ad litem makes an informed decision. Pediatricians need to be aware that prosecutors may not
support a decision to forgo LSMT out of concern that
the case against the alleged abuser may be weakened.
At the end, the thoughtful and systematic approach of
the statement comes around to helping us understand
that decision-making in the treatment of abused children
is no different from the painful dealings with other
injured or moribund children only more so.
Comment
Parents, acting as surrogates for their children, may
refuse treatment without implying a choice to hasten the
childs death. (1) Several points bear emphasis. When a
DNR order is in place, there still should be the freedom
to request beneficial interventions without fear of prolonged resuscitation or unwanted intensive care. (2)
Despite the possible risks of an iatrogenic arrest during
anesthesia and surgery, it is not always in the best interest
of a child to be resuscitated, and a family may refuse
resuscitation attempts. Policies requiring the suspension
of a DNR order force families to balance the benefits of
surgery against the risks of unwanted resuscitation. (3)
Procedures commonly used in the operating room may
be considered resuscitation in other situations (3). Reconsideration of the DNR order allows a review of therapeutic interventions that might be used and possible
policy statements
References
1. American Academy of Pediatrics. Committee on Bioethics.
Guidelines on forgoing life-sustaining medical treatment. Pediatrics. 1994;93:532536. Available at: http://pediatrics.
aappublications.org/cgi/reprint/93/3/532
2. Truog RD, Waisel DB, Burns JP. Do-not-resuscitate orders in
the surgical setting. Lancet. 2005;365:733735
3. American Society of Anesthesiologists, Committee on Ethics.
Ethical Guidelines for the Anesthesia Care of Patients with Do Not
Resuscitate Orders or Other Directives that Limit Treatment. Available at: www.asahq.org/publicationsAndServices/standards/09.html
bioethics
Comment
Children who have life-threatening problems are at risk
of dying while in school. Parents, after appropriate consultation, may decide on DNR orders and may wish for
these orders to be followed at school. From an ethical
standpoint, parents could argue that they, along with
their child, have a right to have the DNR order followed
at school. On the other hand, school officials may be
worried about a variety of other issues, some of which
may involve liability for the school. In addition, there is a
concern about the effect of a death in school on other
students, as well as parents of other children not wanting
their children exposed to death at school. This last point
also could be presented as a rights-based argument.
Avoiding adversarial struggles between school personnel and parents is important. The AAP recommendations in this area are both helpful and practical in attaining common ground for the school and the family. The
AAP recommends that pediatricians work with parents of
at-risk children as well as with school and nursing personnel, teachers, administrators, and emergency medical
service personnel. Concerted efforts to accommodate
all points of view will help avoid confrontation and
possible litigation. More importantly, finding common
ground is in the best interest of children at increased risk
of dying in school, should the parents desire a DNR
order be followed in the school.
policy statements
bioethics
Comment
The position outlined in this statement is mainstream
and consistent with many earlier ethics documents about
genetic testing and genetic screening. (4)(5) The great
expansion of genetic technologies in the past 5 years has
not created much of a change in ethical analysis, although it has influenced genetic practice. First, newborn
screening has expanded rapidly without appropriate systems in place to ensure that the policy decisions can be
re-evaluated. (8)(9) Second, although many argue
against predictive testing and screening of children and
adolescents for carrier detection and late-onset conditions, empiric data show that such testing is occurring.
(10)(11)
References
1. Bailey DB Jr, Skinner D, Warren SF. Newborn screening for
developmental disabilities: reframing presumptive benefit. Am J
Public Health. 2005;95:1889 1893
2. American Academy of Pediatrics, Committee on Genetics. Newborn screening fact sheets. Pediatrics. 1996;98:473501
3. American Academy of Pediatrics, Newborn Screening Task
Force. Serving the family from birth to medical home: a report from
the Newborn Screening Task Force convened in Washington DC,
May 10 11, 1999. Pediatrics. 2000;106(suppl):386 427
4. National Research Council. Genetic Screening: Programs, Principles, and Research. Washington DC: National Academy of Sciences; 1975
5. Institute of Medicine. Assessing Genetic Risks. Implications for
Health and Social Policy. Washington DC: National Academy Press;
1994
6. Scriver CR, Clow CL. Compliance factors in Tay-Sachs screening. Progr Clin Biol Res. 1977;18:379 380
7. Barlow-Stewart K, Burnett L, Proos A, et al. A genetic screening
programme for Tay-Sachs disease and cystic fibrosis for Australian
Jewish high school students. J Med Genet. 2003;40:e45
8. Botkin JR, Clayton EW, Fost NC, et al. Newborn screening technology: proceed with caution. Pediatrics. 2006;117:17931799
9. Botkin JR. Research for newborn screening: developing a national framework. Pediatrics. 2005;116:862 871
10. Duncan RE, Savulescu J, Gillam L, Williamson R, Delatycki
MB. An international survey of predictive genetic testing in children
for adult onset conditions. Genet Med. 2005;7:390 396
11. Cadet E, Capron D, Gallet M, et al. Reverse cascade screening
of newborns for hereditary haemochromatosis: a model for other
late onset diseases? J Med Genet. 2005;42:390 395
policy statements
bioethics
Comment
This policy has much in common with other AAP and
American Medical Association (AMA) policies and statements. The primary consideration should be the best
interests of the child. (1)(2)(3) Physicians should justify
treatments to families, patients, and themselves based on
possible benefits and burdens. (1)(2)(3)(4)(5) Parents
need to be fully informed as early as possible (1)(2)(3)(4)
because different individuals judge the value of benefits
and risks differently. (1) Parents are granted wide discretion in decision making, and physicians should use judicial intervention to override parents only when their
decisions clearly conflict with the childs interests. (1)
References
1. American Academy of Pediatrics. Committee on Bioethics.
Guidelines on forgoing life-sustaining medical treatment. Pediatrics. 1994;93:532536
2. American Academy of Pediatrics. Committee on the Fetus and
Newborn. The initiation or withdrawal of treatment for high-risk
newborns. Pediatrics. 1995;96:362363
3. American Medical Association. E 2.215 Treatment Decisions for
Seriously Ill Newborns. Available at: http://www.ama-assn.org/
apps/pf_new/pf_online?f_nresultLink&docpolicyfiles/HnE/
E-2.215.HTM&s_te2.215&catgAMA/HnE&catgAMA/
BnGnC&catgAMA/DIR&&nth1&&st_p0&nth2&.
7/
10/06
Pediatrics in Review Vol.29 No.3 March 2008 e21
policy statements
bioethics
Conclusion
The AAP periodically publishes policy statements and
guidelines addressing difficult ethical issues that physi-