Supporting Family Adaptation to Presymptomatic and ‘‘Untreatable’’
Conditions in an Era of Expanded Newborn Screening
Donald B. Bailey JR,1F. Daniel Armstrong,2Alex R. Kemper,3Debra Skinner,4and Steven F. Warren5
1RTI International,2Miller School of Medicine and Holtz Children’s Hospital at Jackson Memorial Medical Center,
3Program on Pediatric Health Services Research, Duke University,4FPG Child Development Institute, University
of North Carolina at Chapel Hill, and5Schiefelbush Institute for Lifespan Studies, University of Kansas
With an expansion of screening, strategies will be needed to support family adaptation to unexpected and
possibly uncertain genetic information provided shortly after birth.
for expanded newborn screening will typically be associated with increased morbidity or mortality, for most
there is no proven medical treatment that must be implemented quickly. Many will have clinical features
that gradually emerge and for which the severity of impact is not predictable. Parents will seek guidance on
information, support, and treatment possibilities. This article summarizes issues evoked by expanded newborn
screening and suggests strategies for supporting families of identified children.
components necessary to support family adaptation to pre-symptomatic and ‘‘untreatable’’ conditions in an era
of expanded newborn screening: (1) accurate and understandable information; (2) formal and informal support;
(3) active surveillance; and (4) general and targeted interventions. We argue that no condition is ‘‘untreatable’’
and that a well-designed program of prevention and support has the potential to maximize benefit and minimize
harm. Conclusions Pediatric psychologists can play important roles in an era of expanded newborn
screening by helping families understand genetic information, make informed decisions about genetic testing,
and cope with the potential psychosocial consequences of genetic information.
As technology advances, newborn screening will be possible for conditions not screened today.
Method Although candidate conditions
ResultsWe propose four
Key words early identification; family support; newborn screening.
Newborn screening first emerged in the late 1960s
when a screening test and treatment became available
for phenylketonuria (PKU). Since then, the US has
developed a broad state-based program of universal
screening, a program that has continued to expand as
new laboratory tests have been developed (leading to
cheap and accurate identification of various metabolic
and genetic disorders), and new treatments have been
discovered (leading to reduced morbidity and mortality).
Cross-state variability in the number of conditions
screened led to a recent task force report recommending
that all states screen for 25 conditions and ‘‘report out’’
29 additional conditions that necessarily would be
detected because of the technology used to identify the
core conditions (Watson, Mann, Lloyd-Puryear, Rinaldo,
& Howell, 2006).
Psychologists are rarely involved in newborn screen-
ing. Screening is considered to be a public health inter-
vention and typically is done without parental consent.
Most screened conditions have dire consequences for
children, requiring urgent medical attention. But in the
future, psychologists could play a more significant role in
newborn screening, especially as screening expands to
include a more diverse set of conditions, involves consent
(requiring parents to make decisions about the types of
information they would like to know about themselves or
their child), or conveys information about genetic risk.
Newborn screening is a practice context that exemplifies
many of the larger issues facing psychologists in a new era
of genomic information and technology (Bishop, 2006;
Goldsmith et al., 2003; Patenaude, 2003; Patenaude,
Guttmacher, & Collins, 2002).
All correspondence concerning this article should be addressed to Don Bailey,PHD, Distinguished Fellow,
RTI International, 3040 Cornwallis Rd, Research Triangle Park, NC 27709-2194, USA. E-mail: email@example.com
Journal of Pediatric Psychology pp. 1–14, 2008
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Journal of Pediatric Psychology Advance Access published March 30, 2008
All newborn screening is considered ‘‘pre-symptomatic
disease screening’’ because the conditions are not dis-
cernable using neonatal physical or developmental evalua-
tions. Most screened conditions have treatments known to
be effective if provided early. For example, all states screen
for congenital hypothyroidism (CH), an endocrine disorder
resulting in decreased thyroid hormone production.
CH is not obvious at birth, but is reliably detected through
newborn screening. Early thyroxine replacement therapy
(beginning in the first month of life) prevents otherwise
irreversible central nervous system damage and intellectual
Efficacy of early treatment as exemplified in the case
of CH is a long-standing principle underlying newborn
screening and genetic testing. In the near future, however,
advances in genetic technology will allow for simple and
inexpensive screening for large numbers of genetic or
chromosomal variations (Hacia & Collins, 1999) and will
complicate public health decision making because many
will not conform to the traditional standard of ‘‘treatable’’
conditions that require early intervention to see results
(Green, Dolan, & Murray, 2006). Two examples of such
conditions are fragile X syndrome (FXS) and Duchenne
muscular dystrophy (DMD).
FXS is an inherited single-gene disorder on the
X chromosome that affects the production of FMRP,
a protein necessary for normal brain function (Reiss &
Hall, 2007). Males with the full mutation typically have
moderate to severe intellectual disability and a subset also
have autism, seizures, or self-injury. However, several case
studies have described males with intellectual ability in the
mild or borderline range (Han, Powell, Phalin, & Chehab,
2006). Females with the full mutation are more mildly
affected, and perhaps as many as one-half will have
borderline or normal intellectual function due to cellular
mosaicism and X inactivation (Migeon, 2006). Because
most identified cases of FXS start with clinical symptoms,
the true incidence rate of ‘‘high-functioning’’ individuals
with the full mutation is unknown. Carriers are typically
asymptomatic, but female carriers are at increased risk
for premature ovarian failure (Sherman, 2000) and male
carriers for a late-onset tremor/ataxia disorder (Hagerman
& Hagerman, 2004). FXS is never identifiable at birth
except through DNA testing. Males with the full mutation
are typically identified around 3 years of age as a result
of developmental delays and behavior problems; females
are usually identified later and many are probably never
diagnosed (Bailey, Skinner, & Sparkman, 2003). No
medical treatmentcurrently exists,althoughrecent
theories could lead to targeted pharmacological interven-
tions in the next few years (Bear, 2005).
DMD is an X-linked recessive disorder that results in
the absence of the protein dystropin. A degenerative
disease that primarily affects males, DMD typically has an
onset between 2 and 6 years, and results in a gradual
wasting of voluntary muscles. Survival beyond age 30
is rare. DMD is never identified at birth through clinical
symptoms. No cure exists; corticosteroids are often used to
prolong ambulation, but questions exist about when they
should be administered and recent reviews indicate that
little data would support the use of steroids before age 5
(Moxley et al., 2005). Ross (2006) points out that almost
all children with DMD will have been identified with
clinical symptoms by this age.
For both FXS and DMD there is general consensus that
early identification has many potential benefits, but the
value of newborn screening relative to other identification
strategies is debated. If children were screened for these
conditions at birth, parents would get information about a
genetic or chromosomal variation that (a) is not readily
apparent, (b)will rangefrom noexpression tosevere effects;
and (c) may or may not result in a range of secondary
conditions. These conditions do not currently have medical
treatments that must be provided during the first months of
life. Newborn screening could provide parents with
information about their child’s status as an unaffected
Both conditions are inherited and each bears implications
for future reproductive risk for identified children.
We have argued that despite the lack of medical
treatments, expanded newborn screening for conditions
such as these could be justified on the basis of other
presumptive benefits, such as psychosocial and educa-
tional interventions for children; information and support
for families; and a better understanding of the early
(presymptomatic) phases of the condition so that the
nature and timing of treatments can be determined (Bailey,
Skinner, & Warren, 2005). But concerns about expanded
newborn screening have been prominent in the literature
(Botkin et al., 2006). Some argue that early identification of
‘‘untreatable’’ conditions with uncertain impact could lead
to heightened anxiety about parenting, oversensitivity to
developmental or physical symptoms, or disruptions in
parent-infant bonding. Others are concerned that screen-
ing could generate information of ambiguous value,
identifying children for whom the presence or severity of
clinical outcome is uncertain. In a recent paper (Bailey,
Skinner, Whitmarsh, Davis, & Powell, 2008), we not only
acknowledge the validity of these and other concerns but
Bailey et al.
also suggest that each could be prevented or at least
minimized if screening were done with informed consent
and adequate follow-up.
We assume that technology to screen for such con-
ditions will be available in the future (Hacia & Collins,
1999), in state-mandated newborn screening programs,
as part of a voluntary second-tier screening, or privately
through commercial vendors. Any one of these scenarios
raises a fundamental question: if presymptomatic newborn
screening identifies conditions with uncertain impairment and
no medical treatment required early in life, what is needed to
support identified children and their families? Following a
brief description of current practices we suggest four
follow-up components required to support family adapta-
tion to presymptomatic and ‘‘untreatable’’ conditions in an
era of expanded newborn screening: (a) ongoing access to
accurate and understandable information; (b) support
from professionals and other parents; (c) active surveil-
lance of child health, development, and behavior; and
(d) general and targeted interventions mutually determined
by parents and professionals. Psychologists could play
important roles in each of these aspects of support.
We conclude by arguing that these conditions are
not ‘‘untreatable’’ and that a well-designed program of
follow-up and support has the potential to maximize
benefit and minimize harm.
Newborn Screening: Diagnosis
In the 1960s, newborn screening for PKU began in the
United States. Since then, the number of conditions
detectable through newborn screening has dramatically
expanded. However, the basic organization of newborn
screening has not changed. Screening is a state public
health function. Eachstatedetermineswhichconditionsare
included, develops screening systems, provides diagnostic
confirmation, and starts the process of condition-specific
outside of the public health system for both diagnosis and
treatment. Because of the way newborn screening is
organized, two important challenges have developed:
physicians may not be prepared for providing care for
those with a positive (i.e., abnormal) newborn screen and
there is no coordinated system for long-term follow-up
when a diagnosis is confirmed.
Initial Follow-up after an Abnormal
Screening begins in the hospital, when blood spots are
collected from newborns. These blood spots are sent to
a state-designated laboratory, usually a public health
laboratory but sometimes a contracted private laboratory.
Laboratory results are usually not known until after
discharge. All states have systems to assure that families
are notified about positive screening results. These systems
are based on notifying the child’s physician of record, who
contacts the family and proceeds with the diagnostic work-
up and management. Finding out about a positive
newborn screening result, even before confirmation, can
be upsetting to a family.
To complicate matters, families often first learn about
an abnormal screening result from their child’s primary
care provider. Since most screened conditions are relatively
rare, many pediatricians and family physicians are not
knowledgeable about each condition or what steps need to
be taken after an abnormal newborn screen (Kemper,
Uren, Moseley, & Clark, 2006). The American College of
Medical Genetics (2007) has developed materials to help
guide this process. State public health officials also are
available for consultation in the process of diagnosis and
initial management. Data collected by states demonstrate
that nearly all children with a positive newborn screen
receive timely diagnostic evaluation. However, few data are
available regarding how information is provided to families
about the meaning of a positive screen. As newborn
screening expands, so too does the possibility of more false
positive screens (Howell, 2006). Research shows that
parents experience heightened anxiety during the time
between a positive screen and a diagnosis verifying whether
a condition actually is present (Gurian, Kinnamon, Henry,
& Waisbren, 2006; Hewlett & Waisbren, 2006). Assuring
high quality information exchange and ongoing supports
will be especially critical for those conditions that are
currently considered ‘‘untreatable’’ to minimize the harm
of screening, especially if manifestation of the condition is
variable and the possibility of a false positive result grows.
All of the conditions currently identified through new-
born screening are chronic. To maximize the benefits of
newborn screening, a coordinated and accessible system
is needed to assure appropriate care after diagnosis
and throughout the lifespan (Watson et al., 2006).
Unfortunately, follow-up after diagnosis is variable, and
there is no standard for follow-up care (Hoff, Hoyt,
Therrell, & Ayoob, 2006). Ideally, all identified infants
should have a medical home to assure appropriate care.
The medical home should be family-centered, culturally
sensitive, accessible, and play a central role in the
coordination of all primary and subspecialty health care
Expanded Newborn Screening
However, there are no data available regarding the degree
to which infants identified through newborn screening
have such a medical home. Families must also contend
with the lack of availability and maldistribution of knowl-
edgeable subspecialists (e.g., geneticists, endocrinologists,
and neurologists) (James & Levy, 2006). Similarly, the
educational system may not have adequately trained
personnel to care for children with rare or specialized
needs. Other challenges include transitioning from child-
hood to adult care services and maintaining health
insurance. Insurance may not cover specific health care
needs such as pharmacotherapy, durable medical goods, or
special therapy (e.g., physical therapy or occupational
(American Academyof Pediatrics,2002).
Four Recommended Components of Follow-up
The current state of newborn screening follow-up is not
well-positioned to support rapid expansion of the number
of conditions screened. But that is partly due to the
‘‘medical emergency’’ model on which newborn screening
historically has been built (Grosse et al., 2006); follow-up
is basedonthe assumption
treatments must be provided in the first few days or
weeks of life. The system is ill-prepared to support
families of children with conditions such as FXS or DMD
for which there is no medical emergency and no medical
treatments that must be provided early in life if they are
to be effective.
With only a few exceptions (Waisbren, Rones, Read,
Marsden, & Levy, 2004), newborn screening has not been
discussed in the psychological literature. Psychologists are
not part of the normal newborn screening follow-up
program, and debates about expanded newborn screening
have primarily involved medical geneticists, pediatricians,
bioethicists, and health economists. But psychology has
a rich history of supporting child and family adaptation
and providing assistance with medical decision making.
Pediatric psychologists have a unique opportunity to play
a key role in newborn screening and in other medical
contexts where individuals or families must deal with
complicated genetic information or make decisions about
screening or treatment options (Patenaude, 2003). Here,
we describe four forms of such support that have been
well-established as helpful for families and children. These
and other forms of support could form the basis for a
new model of follow-up in an era of expanded newborn
Ongoing Access to Accurate and
For families the need for information about how to foster
their child’s health and development and how to access
support services is paramount (Bailey & Powell, 2005).
With expanded newborn screening, both families’ and
Newborn screening’s disclosure that a child has a genetic
or chromosomal abnormality will initiate for many
families a long-term search for information. They will
want to learn more about (a) the genetics of the
diagnosis, its associated symptoms, and prognosis for
their child’s health and development; (b) reproductive
risks for themselves, their children, and relatives; (c)
potential treatments and interventions; (d) how to find
professionals who are knowledgeable about the disorder;
and (e) how to locate and communicate with other
families who have children with the same diagnosis.
Helping families gain access to accurate and under-
important component of support.
Traditionally, the child’s pediatrician or family physi-
cian has been a trusted source for medical information,
and the child’s teacher or early intervention specialist
a resource for educational and therapeutic guidance.
However, most genetic conditions are rare and general
practitioners may have had little if any exposure to a
particular condition. They may find themselves in a
position of conveying complex genetic information, some
of which is ambiguous and difficult to interpret (Hall,
Abramsky, & Marteau, 2003; Whitmarsh, Davis, Skinner,
& Bailey, 2007). One study of families of children with
genetic disorders indicated that parents did not expect
their child’s teacher or pediatrician to be aware of every
rare genetic condition, but they did expect them to be
willing to learn more about their child’s condition and
incorporate that knowledge into how they taught or cared
for the child (Skinner & Schaffer, 2006). They also
expected ‘‘specialists’’ to have more expertise about their
child’s condition and expressed frustration when they
did not (Schaffer, Kuczynski, & Skinner, 2008). Parents
sometimes report learning about a disorder from their
pediatricians who portray the condition as excessively
negative and present misinformation (Whitmarsh et al.,
2007). These studies suggest that both generalists and
specialists need training on the most appropriate way of
sharing information with families.
Families generally are not passive recipients of infor-
mation, but partners in the communication process and
often coproducers of what and how information is
these dimensionsis an
Bailey et al.
disseminated. One major change in the ways families
search for and coproduce information has come about with
widespread usage of the Internet. A recent study found
that parents who had received genetic counseling con-
sidered counseling as only one source of information
(Schaffer et al., 2008). Most families used the Internet to
supplement or clarify information received from counsel-
ors; build up their own scientific or genetic literacy so they
could better communicate with service providers; read
about research or treatments; and communicate with other
families or advocacy groups formed around a specific
condition. Through these activities, parents came to value
their knowledge of the disorder and their own experiential
knowledge of their child. Some of them came to believe
they were more knowledgeable than most professionals
about their child’s condition, and saw their role as
educating and negotiating with professionals about appro-
priate treatments or services.
However, this expertise did not come without costs.
As other studies have shown (Hardey, 1999; Taylor,
Alman, & Manchester, 2001; Ziebland, 2004), some
parents became overwhelmed with information, ques-
tioned their ability to understand what they found, or
worried that they might miss crucial information if they
stopped searching. They found some information ambig-
uous or suspect, but did not always know how to evaluate
it or ascertain if it was from a reputable source. For most
parents, the Internet and other sources of information did
not take the place of a well-informed medical expert
who could help them manage their child’s health care and
make sense of a wide array of information (Skinner &
A major challenge is the generally low level of genetic
literacy across societies (Johnson, Case, Andrews, &
Allard, 2005). With expanded newborn screening, families
from a wide range of educational, socioeconomic, and
cultural backgrounds will need access to comprehensive,
yet comprehensible information in a range of formats on
the condition that affects their child. Professionals will
need to be more aware of how to share this information
with these diverse families. Bailey et al. (2008) point out
that lower economic, minority, or immigrant groups may
experience less access to genetic counseling and medical
specialists with knowledge of the condition, and that these
disparities in access may vary across states (Fant, Clark, &
Kemper, 2005; Kim, Lloyd-Puryear, & Tonniges, 2003).
More research is needed on the informational materials
and communication processes diverse families need to
make informed decisions about their child’s care and
Support from Professionals and Other Parents
In addition to information about their child’s condition,
families will need other forms of support to cope with
and use information obtained from newborn screening.
A large and expansive body of research consistently shows
that families with strong support systems are able to
handle challenges more effectively than families with few
supports (Horwitz, Briggs-Gowan, Storfer-Isser, & Carter,
2007; Mistry, Stevens, Sareen, De Vogli, & Halfon, 2007).
Here, we differentiate support—perceived beneficial emo-
tional and functional assistance provided from a trusted
source (c.f., Armstrong, Birnie-Lefcovitch, & Ungar,
2005)—from professional services such as therapy or
Professionals can serve as one source of support if
their work is family-centered and sensitive to individual
family needs and concerns. Unfortunately, a recent survey
reported that parents of children with disabilities were least
satisfied with their physician’s ability to understand the
impact of disability on the family or to link them with other
families (Liptak et al., 2006). Many publications across a
variety of disciplines have advocated that professionals and
families would be better off if services were responsive to
family needs and supportive of their values and prefer-
ences, an approach typically referred to as family-centered
(Denboba, McPherson, Kenney, Strickland, & Newacheck,
2006; McWilliam & Scott, 2001; Rondero-Hernandez,
Selber, & Tijerina, 2006). Dunst, Trivette, & Deal (1994)
suggest that professionals act in supportive ways when
they (a) enhance a sense of community so that families feel
that professionals care about and support them; (b) help
mobilize resources so families have what they need for
their child and can proceed with a more normalized family
life; (c) assume that program planning and service delivery
is a two-way process that calls for collaboration between
professionals and families; (d) protect family integrity,
respect beliefs and values, and try not to impose goals
or services inconsistent with those beliefs; (e) build on
family strengths rather than correcting ‘‘deficiencies;’’ and
(f) solicit family input and organize services to promote
family quality of life. A recent meta-analysis of 47 studies
concluded that family-centered practices were consistently
associated with better outcomes for families, with the
strongest relationships found when exchanges between
professionals and parents were family-centered (Dunst,
Trivette, & Hamby, 2007).
Parents get support from sources other than profes-
sionals, and research clearly shows the power of informal
supports. Since most conditions screened are rare, parents
often want to find other parents who have children with
Expanded Newborn Screening
similar conditions. These interactions can occur sponta-
neously or almost anonymously, as in the case of Internet
conversations or ‘‘virtual communities,’’ or more system-
atically in the form of support groups or parent-to-parent
programs (Santelli, Poyadue, & Young, 2001; Skinner &
Schaffer, 2006) that pair parents of newly identified
children with ‘‘veteran’’ parents of children with similar
conditions. Parent-to-parent programs can be highly effec-
tive, but work best when there is an appropriate match
with parent mentors trained and supervised so that the
quality of support is high (Singer et al., 1999).
Perhaps the strongest source of support is received
from less formal sources—friends, neighbors, family
members, or a spouse. Bailey, Nelson, Hebbeler, and
Spiker (2007) showed that family and community support
for families of young children with disabilities were
stronger predictors of family confidence in parenting and
optimism about the future than was the quality of
professional services. Perceived marital quality and satis-
faction with support from one’s spouse are consistently
shown to be highly predictive of parental well-being,
especially for mothers (Kersh, Hedvat, Hauser-Cram, &
In an era of managed care and limited resources for
both health care and early intervention services, profes-
sionals may not realize the roles they can play in helping
families build and strengthen informal supports. However,
an extensive body of research has shown that professionals
can facilitate family adaptation both directly through
formal supports and interventions, and indirectly by
using family-centered practices to help families build
their own informal support systems (Dunst et al., 2007;
Shonkoff, Hauser-Cram, Krauss, & Upshur, 1992; Singer,
Ethridge, & Aldana, 2007).
Active Surveillance of Child Health,
Development, and Behavior
One historical criterion used to determine whether a
condition should be included in newborn screening is that
the natural history of the condition should be known
(Wilson & Jungner, 1968). Unfortunately, for many
conditions understanding natural history and developing
treatments cannot occur until a screening test is developed
and implemented in a population. Recent reports (Watson
et al., 2006) have pointed out these difficulties, particularly
for rare conditions where expert opinion represents the
entire scope of knowledge about natural history and
treatment. There is clearly a chicken-egg problem; using
a screening test in a newborn screening program for
conditions that have an uncharted course and no known
treatment creates a burden for states, pediatricians, and
families, but unless newborn screening is initiated, the
natural history of a condition may never be known.
Active surveillance of children (periodic screenings
or developmental assessment of children) can reassure
parents about their child’s development and reveal
the possible need for services or interventions. Dworkin
(2000) describes emerging models of preventive health
care that rely on developmental surveillance and antici-
patory guidance as two key components. Developmental
surveillance entails regular observations of children by
knowledgeable professionals. But when children are seen
only in pediatric visits or home visits, professionals will not
have a representative view of the child’s activities of daily
living. The value of developmental surveillance can be
enhanced when it uses systematic screening and recognizes
the value of parents’ observations (Glascoe, 2005; King &
The value of systematic surveillance leading to new
treatments is exemplified by sickle cell disease (SCD), a
complex condition resulting from the combination of
abnormal hemoglobin genes. These combinations cause
abnormal concentrations of hemoglobin S that promotes
deoxygenation of hemoglobin, leading to a sickling of the
red blood cell that ultimately results in vaso-occlusion and
organ damage (National Institutes of Health, 2002). Until
the early 1980s, SCD was managed symptomatically, with
no known cure. However, several states began newborn
screening for SCD, which resulted in early, presymptom-
atic identification (Botkin, 2005). Newborn screening
made possible a 15-year natural history study of a new-
born cohort, the Cooperative Study of Sickle Cell
Disease-CSSCD, (Gaston & Rosse, 1982) that defined
the full range of symptoms (Gill et al., 1995), helped
identify critical time points for outcomes of SCD (Platt
et al., 1994), and ultimately led to the development of new
interventions (Armstrong, 2006). The prophylactic use of
penicillin was initiated to prevent overwhelming bacterial
infection (Gaston et al., 1986), dramatically reducing
mortality and changing life expectancy. Early risk for stroke
was determined, The CSSCD also tracked cognitive and
brain development and established early stroke risk
(Ohene-Frempong et al., 1998). Data showing that nearly
22% of the children would have infarction of the blood
vessels in the central nervous system by age 15 (Armstrong
et al., 1996) promoted the use of transcranial Doppler
ultrasound screening and treatment with chronic trans-
fusion (Adams, 2000). Even some children with no
obvious abnormalities on magnetic resonance imaging
Bailey et al.
had significant declines in IQ between age 6 and 16
(Wang et al., 2001). The careful surveillance that followed
newborn screening stimulated research to understand
disease mechanisms that in turn led to the examination
of new treatments such as hydroxyurea (Kinney et al.,
1999) and bone marrow and stem cell transplantation
(Walters et al., 2000).
By establishing a systematic clinical surveillance
system for newborn screening follow-up, not only can
the natural history of the condition be described, but also
infants and families can benefit from existing services,
short and long-term health outcomes can be identified,
novel interventions developed, and public policy decision
making improved (Howell & Engelson, 2007). Awareness
of delays observed in children with various metabolic
disorders (Staba et al., 2004) or leukodystrophies (Escolar
et al., 2005) has led to aggressive intervention using
stem cell transplantation, and continued surveillance of
behavior and CNS development using neuroimaging has
generated models that may predict later challenges or
developmental successes. Such surveillance is critical when
a newborn appears typical, yet for whom a developmental
process related to a detectable genetic pattern could result
in significant developmental delay at some point in the
Fragile X exemplifies this issue. With the exception
of a few small studies, most of which are retrospective
interviews of mothers, the natural history of FXS is not
known for the period from birth to recognition of
behavioral/developmental symptoms. Careful surveillance
that includes tracking observed behaviors, neuroimaging,
and biologic markers associated with typical development
from birth to onset of developmental symptoms would
provide critical natural history data. Surveillance might
also provide further insights into mechanisms that
result in cognitive impairment, possibly leading to new
Substantial effort has been devoted to the develop-
ment of screening tests for genetic conditions, and the
sensitivity and specificity of these tests have permitted the
expansion of newborn screening panels in many states.
However, the emphasis on surveillance, description of
natural history, and close follow-up with access to avail-
able interventions and supports has not progressed as
rapidly as laboratory development of screening tests
(Howell & Engelson, 2007). The National Institute of
Child Health and Human Development (NICHD) is in the
process of establishing a national newborn screening
translational research network (NBSTRN) to build the
research infrastructure to support all aspects of the
newborn screening program. One of the featured objectives
of the NBSTRN will be follow-up of screened and treated
patients so that the natural history of conditions can be
better understood and effectiveness of treatments and
long-term outcomes determined (Alexander & Hanson,
General and Targeted Interventions Mutually
Determined by Parents and Professionals
Although most conditions that could be identified through
expanded newborn screening will not have unique,
condition-specific treatments (as in the case of PKU or
CH), this does not mean that such conditions are
‘‘untreatable.’’ A wide range of educational and therapeutic
interventions and supports are potentially available. A good
example of such an approach is the US program of early
intervention services for infants and toddlers at risk for
developmental disabilities. The 1986 federal law that
enabled this system requires that children with an
‘‘established condition’’ likely to lead to a delay receive
services even if a developmental delay is not yet apparent.
While services vary by state, they generally include family
support and parent training. There is a broad consensus on
the principles that guide this system (Bailey, Aytch, Odom,
Symons, & Wolery, 1999; Guralnick, 2005): (a) interven-
tion should support family needs, desires, and priorities;
(b) participation is voluntary; (c) services should be
individualized and unique to the needs of each child
and family; (d) services should fit into family routines
and maximize family participation in the community; and
(e) intervention should be collaborative and integrated
Much research is needed on issues related to the
effectiveness of early intervention. Nevertheless, positive
effects of early intervention have been shown for young
children with a wide range of delays and disabilities, in
most cases irrespective of etiology and severity (Kavale &
Forness, 1999). Early intervention can have broad general
effects as well as targeted effects on specific domains
such as communication (Warren et al., 2006) or motor
development (Horn, Warren, & Jones, 1995).
Depending on the goal, there is also evidence that
important effects can be obtained with even relatively small
amounts of intervention. A good example is the provision
of optimal levels of maternal responsivity to children.
At the most general level, maternal responsivity refers to a
‘‘healthy, growth-producing relationship consisting of such
caregiver characteristics as warmth, nurturance, stability,
predictability, and contingent responsiveness’’ (Spiker,
Expanded Newborn Screening
Boyce, & Boyce, 2002). There is a substantial and growing
body of evidence that cumulative exposure to appropriate
levels of maternal responsivity from birth onward is
associated with a variety of important child benefits in
terms of language, cognitive, emotional, and social
development (Landry, Smith, Swank, Assel, & Vellet,
2001). The degree of parental responsiveness has also been
shown to be predictive of important outcomes in young
children with intellectual and developmental disabilities
(Hauser-Cram, Erickson-Warfield, Shonkoff, & Krauss,
2001), including language outcomes for young children
with FXS (Warren, Brady, Sterling, & Fleming, 2008).
Young children with highly responsive mothers have also
been reported to make greater gains to targeted commu-
nication interventions (Yoder & Warren, 2001) and in
social competence (Baker, Fenning, Crnic, Baker, &
Blacher, 2007). Recent research suggests that young
children with borderline intelligence, a risk factor for
several conditions that could be screened at birth, may
be especially at risk for unresponsive parenting, further
exacerbating developmental risk (Fenning, Baker, Baker, &
Although fathers play critical roles in child develop-
ment and family adaptation, the literature has focused
almost entirely on the role of mothers in enhancing
children’s development. Maternal responsivity can be
enhanced through relatively modest parent training efforts,
often in as few as eight 1-h training sessions (Girolametto,
1988; Wilcox & Shannon, 1998). Reviews of the extant
literature indicate that, while results vary in terms of
strength of the effect, the evidence supports the premise
that interventions designed to improve maternal res-
ponsivity can enhance children’s language, social, emo-
tional, and cognitive development in substantial ways
(Bakermans-Kranenburg, van IJzendoorn, & Juffer, 2003:
Warren & Brady, 2007; Yoder, Warren, McCathren, &
While all children are likely to benefit from cumulative
exposure to high parental responsivity, many young
children with developmental delays are in clear need of
specific interventions aimed at motor, sensory, commu-
nication, and other skill domains. Individualization is a
central tenet of early intervention. The overall effectiveness
of many specific intervention approaches remains uncer-
tain (Mahoney, Robinson, & Fewell, 2001), but there is
evidence that some targeted interventions achieve clinically
significant effects even at low intensity levels. For example,
Fey et al. (2006) found in a randomized clinical trial that
young children with developmental delays who receive
?1h per week of direct prelinguistic communication
intervention in combination with a modest amount of
parental responsivity training showed a significant increase
in paralinguistic communication after 6 months. However,
more recently Warren et al. (in press) reported that these
same children showed no lasting effect of this intervention
after it was withdrawn. These results reinforce a central
finding of the early intervention literature: the greatest
general and specific effects are likely to be achieved
when intervention is begun early and continues for at least
While there is substantial evidence for the general
effectiveness of early intervention with children under age 3,
much research remains to be done. For example, there has
been virtually no carefully controlled research on the effects
of different intensities of either general or specific interven-
tions (Warren, Fey, & Yoder, 2007). Many studies have
relatively small numbers of children who participate for
relatively short amounts of time. Nevertheless, published
reports of carefully controlled randomized treatment trials
have increased. The primary research focus now is not
whether early intervention can be effective, but how it can be
optimized. All children, and especially those with borderline
and mild delays, can substantively benefit from a cumulative
exposure to highly responsive parenting and the rich milieu
of learning opportunities this provides (Landry, Smith &
Summary and Conclusions
Concerns about the potential risks of screening newborns
with conditions that are rare, ill-defined in terms of natural
history, or for which there is no current medical treatment
have been clearly articulated (Botkin, 2005; Howell &
Engelson, 2007). Because of these concerns, it seems logical
that the path from genomic discovery to newborn screening
should follow a carefully prescribed agenda in which agreed-
upon stages of sequential research eventually lead to
assurances of safety, efficacy, and acceptability, after which
translational efforts (sometimes heroic in scope) are needed
to assure that affected individuals benefit from genomic
knowledge (Khoury et al., 2007). Nonetheless, there is
evidence from a number of conditions that have been
included in newborn screening programs that the process of
screening often leads, rather than follows, the development
of surveillance, understanding of natural history, and the
development of effective interventions. Ultimately, such
processes are inevitably transactional, as Bishop (2006)
argues in demonstrating ways that psychology and genetics
can be mutually informative. Throughout this process,
families must be key participants in determining how
Bailey et al.
information is acquired and used, and what expectations for
intervention are reasonable.
We suggest that many, if not most, of the concerns
about a voluntary expansion of newborn screening can be
alleviated if families are provided specific supports,
including (a) assuring that they have accurate and under-
standable information, (b) providing formal and informal
support; (c) making it possible for them to participate in
active surveillance; and (d) offering them the opportunity
to participate in research on general and targeted inter-
ventions and providing access to these interventions as
they become available. While each of these components
represents an area of research focus, they all are part of a
larger intervention approach that makes it possible for
professionals and families to better deal with the societal,
ethical, technological, and logistic concerns associated
with emerging newborn screening applications.
There is a substantial opportunity for pediatric child
and family psychologists to make significant contributions
to alleviating concerns about newborn screening by
developing, evaluating, and implementing models of effec-
tive and sustained family support. Psychologists could play
important roles in helping families understand, cope with,
and make decisions based on genetic information or
opportunities to learn about genetic status. However, this
will require that psychologists themselves understand this
information. Although some training programs are now
incorporating genetics into the curriculum (Goldsmith
et al., 2003), most practicing psychologists have a limited
understanding of genetics. Patenaude et al., (2002) recom-
mend that to be effective, psychologists must learn basic
principles of genetics, understand the potential psycho-
social consequences of genetic testing, and keep up with
changes in medical genetics; they suggest revamping
competencies expected of psychologists in line with the
recommendations of the National Coalition for Health
Professional Education in Genetics (Jenkins et al., 2001).
Much of the infrastructure to achieve these recom-
mendations already exists. However, the lack of a national
infrastructure for newborn screening means that progress
towards improving follow-up will occur on a state-by-state
basis (Therrell & Hannon, 2006). Federal leadership and
support will be needed to minimize cross-state disparities
and standardize follow-up practices (Green et al., 2006).
Optimal outcomes can only occur with full implementa-
tion of recommended practices such as a family-centered
medical home (American Academy of Pediatrics, 2000,
2002) and ongoing developmental screening of all children
in pediatric practice (American Academy of Pediatrics,
2001). Incorporating psychologists,developmental
specialists, and enhanced developmental services in
pediatric care for infants, as exemplified by the Health
Steps for Young Children program, has been shown to have
lasting and positive effects on family satisfaction with care,
enhance the receipt of anticipatory guidance, reduce use of
severe discipline strategies, and increase the likelihood of
reporting a clinical or borderline concern about behavior
(Minkovitz et al., 2007). Professional organizations and
advocacy groups need support to develop reliably accurate
Internet-based resources for families at varying levels of
genetic literacy and interests. The trend for states to either
eliminate or restrict the ‘‘at-risk’’ eligibility criteria for
participation in early intervention programs needs to be
reversed so that children with genetic variations of
unknown severity and their families can participate.
Finally, incentives, mechanisms, and supports are needed
to assure that the current disparate and uncoordinated
array of programs is more fully integrated into an efficient
and transparent system of services. This system should be
characterized by a family-centered ethic of parent–profes-
sional partnerships and cross-agency collaboration that
eliminates redundancies, maximizes efficiencies, uses
common eligibility criteria and terminology, and provides
equitable and affordable access to quality services for all
Preparation of this article was supported by grants from the
Ethical, Legal, and Social Implications Research Program,
National Human Genome Research Institute (Grant
number P20-HG003387), and the National Institute
for Child Health and Human Development (Grant
number R21-HD043616). Additional support was pro-
vided by Children’s Medical Services of Florida (C0Q03),
(90DD0408), the Maternal and Child Health Bureau
(MCJ-129147-05-13), and the Micah Batchelor Award for
Excellence in Child Health Research.
Conflicts of interest: None declared.
Received December 1, 2007; revisions received January 31,
2008; accepted March 8, 2008
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