A developmental disability refers to a childhood mental or physical
impairment or combination of mental and physical impairments that result in
substantial functional limitation in major life activities. Developmental
disorders can present in 2 general patterns, as seen in children with the
following features.
"High frequency, limited morbidity" pattern:
- Learning disabilities
- Attention disorders
- Behavioral problems
"Low frequency, high morbidity" pattern:
- Multiple congenital anomalies
- Prenatal and perinatal problems
- Neurogenetic disorders
The former group may be more easily identified at the time of entering
school, while the latter usually is referred for comprehensive evaluations very
early in life.
Although there is a well-established program for further assessment and
provision of therapy for the child at risk for developmental disabilities – the
Early Intervention program – identification of children for further evaluation
has several challenges related to the changing manifestations of the developing
brain.
Complex genetic mechanisms are increasingly recognized as underlying the
majority of developmental disabilities, including global delay and more specific
learning disabilities such as dyslexia. The interaction of these genetic
mechanisms with environmental stressors or toxins remains an area of controversy
and active investigation. The genetic basis of autistic spectrum disorders, for
example, has been extensively studied and is extraordinarily complex, with a
failure of regulation of groups of genes in the normal complex pattern of
postnatal brain development. This results in a disruption of normal language and
socialization despite a not-infrequent history of near-normal early
development.
In assessing a child for developmental disabilities, motor development is
understandably assessed earlier and more specifically than language and social
development. While motor function is usually rather well established and
predictable by 2 years of age, language and cognition have a far more variable
pattern of development. For this reason measures of language and cognition are
not very predictable of subsequent performance until age 5 years. Therefore, it
is often more appropriate to speak of the infant as a child "at risk" for
developmental disabilities early in life, rather than as exhibiting a defined
disorder. Surprisingly, most children with risk factors for developmental
disabilities do not later manifest any disabilities, while most children with
well-identified disabilities have no preexisting risk factors. Most of the
commonly utilized screening tests for developmental disabilities have many false
positive results and miss a considerable number of children with true
delay.
Graduated approach to developmental surveillance and screening
In order of increasing complexity, surveillance is the process of
recognizing children who may be at risk for developmental delays, screening is
the use of standardized tools to identify and define that recognized risk, and
evaluation is the complex process aimed at identifying specific developmental
disorders.
While surveillance and screening can be managed as part of the routine of
office pediatrics, a complete evaluation of the child usually requires the
additional input of an interested pediatrician who can schedule extra office
time, a developmental pediatrician, or child neurologist. There are separate CPT
codes for billing developmental screening and developmental evaluations. These
are outlined in the American Academy of Pediatrics (AAP)
guidelines.[1]
In the recent policy statement regarding developmental screening in the
pediatric office published in 2006,[1] AAP made the following
recommendations:
- Developmental surveillance should be provided at
every preventive visit through childhood, with adequate history (especially
family and perinatal events), observations, and documentation.
- Standardized developmental testing should be provided
for children who appear at low risk for a developmental disorder at the 9-,
18-, and 24- or (ideally) 30-month visits, or for children whose surveillance
yields concerns about delayed or disordered development.
- Early return visits should be scheduled for children
who have raised developmental concerns that are not initially confirmed by a
developmental screening tool.
- Children who have raised developmental concerns
should be referred to the local Early Intervention (birth to 3 years) or Early
Childhood (3 to 6 years) programs.
- The pediatric office should coordinate developmental and medical
evaluations for children who have positive screening results for developmental
disorders.
In the usual pediatric setting, the yield from most general developmental
screening tests is low because fortunately the incidence of such problems is
low. It is important to provide graduated surveillance and screening however, to
identify early the children at risk for developmental problems. We can view this
graduated approach as an increasing level of professional input from informal
screening (ie, surveillance) to routine formal screening (ie, standardized
testing) to focused screening (ie, periodic screening of children at special
risk for developmental problems).[2]
Children who by history are at risk for developmental problems will
require formal screening at the onset. Examples of the prenatal or perinatal
conditions that pose a risk for developmental disorders include birth weight
less than 1500 g, persistent pulmonary hypertension, intrauterine growth
retardation, maternal HIV, family history of childhood deafness and blindness,
among others.[2] Postnatal risk factors include meningitis, brain-spinal cord
trauma, lead poisoning, chronic serous otitis media, seizure disorder, severe
chronic illness such as cancer or cystic fibrosis, and child abuse or
neglect.[2]
Informal screening is based on observation of the child during a routine
well-child visit, asking parents if they have concerns about their child's
development, or observation of the child performing several developmental tasks
appropriate to the child's age. In this approach, parent reports are often
relied on more than direct observation.
Routine formal screening can be performed by a number of assessment
tools, including a parent-completed screening system, a check sheet listing
developmental milestones at specific ages, and specific developmental screening
instruments requiring examination of the child. General developmental screening
tests, such as the Denver Developmental Screening Test, are most effective in
identifying young children with moderate to severe motor or cognitive deficits
from any cause.[3] These tests must be taken in the context of the variable
response of the developing brain in regard to specific tasks of language and
cognition up to the age of 5 years. A list of several of the more popular tests
is found in Table 1. The AAP lists many other screening tools.[1]

Developmental assessment must also take into account the patterns of
behavior and socioemotional function demonstrated by the child. A pattern of
greater intensity and persistence of common behaviors, such as feeding problems,
crying, and temper tantrums, is often seen in children with developmental
delays.[4] Also, the behavioral problem may be confused with a developmental
disability and often needs a careful interdisciplinary evaluation to sort
out.
It is very important to note that screening tests should not be used for
diagnosis. It is incorrect to determine a gross motor level deficit from a
general developmental screening test, or label a child as developmentally
delayed or mentally retarded based on a screening. A failed developmental
screening should lead to further assessment, just as an abnormal neonatal
metabolic screening leads to expanded investigation.[2]
Screening plan by risk and age
Blackman[2] has provided a practical plan for screening infants, toddlers,
and preschoolers. If children have congenital or chronic conditions such as
spina bifida or multiple congenital anomalies that are most likely to be
associated with developmental disorders, they should be immediately referred
through the Early Intervention or similar programs for evaluation and
appropriate care, in addition to other services such as genetic counseling.
Developmental screening need not be done in the office setting, since a
comprehensive evaluation will be performed. The Early Intervention program in
Illinois is organized through 25 regional intake centers (Child and Family
Connections) organized by zip code. The main number is 217.782.1981 or call
800.323.4769 regarding a specific referral.
Children who are at high risk for developmental problems, such as
children with complications of prematurity or environmental neglect, should
receive periodic screening at 6- to 12-month intervals. Children with low risk
for developmental disabilities should have a parent-completed developmental
questionnaire at 9 months, 18 months, and 24 months of age, as defined by
AAP.[1]
Resources and procedures for assessment of children at risk for
developmental disabilities aged 3 to 6 years are somewhat different from those
for younger children. The comprehensive Early Intervention program, which
provides multidisciplinary in-home assessment and treatment for infants and
young children, transitions to the Early Childhood program at age 3 years.[5] At
that time, the supervision of the evaluation and treatment process reverts from
the regional Early Intervention program, which is more therapy-based, to the
local school district, which tends to be more educationally based. Therefore the
focus on particular aspects of physical and occupational therapy may be less,
whereas speech and cognitive assessment may be more prominent. Referral to the
Early Childhood program at age 3 requires a visit by the parents and child to
the local public school.
Private insurance programs may provide limited support for physical,
occupational, and speech programs, but complex interdisciplinary, developmental
pediatric, or psychological evaluations are often not covered by private
insurance. Teaching hospitals often provide a variety of diagnostic and
therapeutic services for the Medicaid population, which may augment the Early
Childhood programs.
Conclusion
One of the great pleasures of general pediatrics is the opportunity to
follow a child from birth through adolescence and to confront some of the
complex neurodevelopmental and behavioral issues, as well as the more defined
and self-limited health issues. A surveillance program with coordination of
developmental screening and interactions with colleagues in further evaluation
is a way to further that end.
REFERENCES
[1.] American Academy of Pediatrics Council for Children
with Disabilities. Identifying infants and young children with developmental
disorders in the medical home. Pediatrics 2006;118:405-420.
[2.] Blackman JA. Developmental Screening. In: Levine MD, Corey WB,
Crocker AC, eds. Developmental-Behavioral Pediatrics. 2nd ed. New York,
NY: Saunders; 1992:617-624 (chapter
69).
[3.] Meisels SJ. Can developmental screening tests identify children who
are developmentally at risk? Pediatrics 1989;83:578.
[4.] Oberklaid F, Dworkin PH, Levine MD. Developmental-behavioral
dysfunction in preschool children: Descriptive analysis of a pediatric
consultative model. Am J Dis Child 1979;133:1126.
[5.] Lipkin PH, Schertz M. An assessment of the efficacy of early
interventional programs. In: Capute AJ, Accardo PJ, eds. Neurodevelopmental
Disabilities in Infancy and Childhood. Baltimore: Brooks; 2006. |