Three different 18-month-old children with their respective families have been seen at an outpatient pediatrics clinic since birth. All three children superficially appear normal and are growing well on their growth curves. The children have no dysmorphic features or other abnormal signs on physical exam. They have not had any serious illness or hospitalization. The physicians in the clinic are mandated to check on the development of their patients but they do this somewhat differently from physician to physician.
One physician uses a tool called the Modified Checklist for Autism in Toddlers (M-CHAT) for all 18-month-olds in her clinic. One physician uses a parent developmental screening questionnaire (a particular one called the PEDS) routinely. Another physician asks questions to the child’s parents but does not use any formal developmental screening instrument.
In actuality, all three children have autism spectrum disorder (ASD). All three families do not know that their children have this. The first child fails the M-CHAT, is referred to an early intervention program and is diagnosed with ASD and receives intensive services. The mother of the second child answer yes to three of the questions on the PEDS (Parents' Evaluation of Developmental Status) parent questionnaire: 1) Do you have any concerns about how your child understands what you say? 2) Do you have any concerns about how your child behaves? and 3) Do you have any concerns about how your child gets along with others? The mother answers "no" to the other questions on the questionnaire. On further questioning the child's family relates how she likes to play by herself and is easy to care for as she doesn't need too much attention. They are worried that she doesn't talk as much as other children, and she uses spoken words but in ways that do not make sense. She is suspected to have ASD and is referred to a developmental-behavioral pediatrician who confirms the diagnosis after a more elaborate evaluation. She is referred to an early intervention program.
The physician who asks questions directly to families finds the parents of the third child slightly worried at the 18-month-old visit about the child not being cuddly and seemingly not very attached to them. They are told to interact more at home with their toddler. Later, at three years of age, the parents are very worried about the child's language but are told that many children are late talkers. When the child is five years of age, the school notes the child's aloofness, poor receptive and expressive language, and nonexistent social skills. The school psychologist evaluates the child and relates to the parents their child has ASD. The parents become angry since they find that many characteristics they have seen in the past two to three years are noted by the school psychologist as signs of ASD. They relate to the psychologist that they feel that their physician should have figured this out earlier.
An important aspect of caring for children in a medical context is that they grow in multiple ways over time. There is an expectation that they will grow physically in size but there are also cognitive, social, and motor developments too. Unfortunately, a variety of medical conditions can cause derangements in proper child development. These include common conditions, such as mild intellectual disability, learning disabilities, and language disorders. There are also many problems that are rarer, such as the developmental disabilities that have a particular genetic etiology, although these are not so rare if taken as a group. Other medical conditions, such as cancer, may impact child development because of the condition itself, effects of treatment on the brain, or child and parental stress from the condition. Additionally, certain situations place children at risk for developmental issues, such as prematurity, child abuse, and poverty.
About 17% of children ages 3 to 17 years in the United States have at least one area of developmental delay (1). For groups at higher risk for developmental delays, early intervention results in higher academic achievement and reduced engagement in behaviors such as high-risk sexual activity, as well as alcohol, drug, and tobacco use (2). Additionally, early intervention improves behavioral, cognitive, health, economic, and social outcomes in children who receive speech and language therapy, physical therapy, occupational therapy, special education, or other services (3). It is therefore particularly important for physicians to evaluate children carefully and routinely for problems in development so that referral to early intervention services, when appropriate, is made.
Physicians, such as pediatricians and family physicians, have essential roles because of their frequent contact with children and their families. While other professionals may also be in touch with families, physicians are uniquely qualified in that they have extensive knowledge of both normal and abnormal development in children. There are multiple contexts which allow for physicians to evaluate a child’s development, including encounters during well child visits, in the emergency department (ED), or in the hospital, but the best time to do developmental screening is in a primary care context (4). In the ED or in the hospital, a child may show developmental regression because of the reason for the ED visit or hospitalization. Directly observed developmental skills may be different compared to when the child is well. Additionally, attention is focused on the acute illness when in the ED or hospital, which makes families less receptive to other aspects of child health and development. Families also have more trust with someone who gets to know their child and family well, and the primary care environment allows such relationships, with ongoing discussions with families and thus opportunities for identifying children with developmental issues.
Identifying children with cognitive, social, or motor problems can be difficult. Glancing at a child in the clinic may not identify these problems and children do not always cooperate with assessments. Additionally, obvious and severe problems are actually rare compared to more commonly seen but subtle problems. Developmental expectations also change with age and risk factors change with time. A child that appears completely normal, or even advanced, during infancy may not develop skills expected as a toddler or in the preschool or school age group periods (5). There is large variation in the ages at which milestones are achieved in early childhood.
Because a percentage of children have developmental problems, a physician requires solid strategies for determining if a child has an important lag or problem in development. Surveillance combined with screening tools at regular intervals is recommended to find children who should be identified. According to the American Academy of Pediatrics (AAP), developmental surveillance is defined as a flexible, longitudinal, continuous, and cumulative process with the following components (4): 1) Eliciting and attending to the parents’ concerns about their child’s development. 2) Obtaining, documenting, and maintaining the child's developmental history. 3) Making accurate and informed observations of the child's development. 4) Identifying the presence of risk and protective factors for developmental delay. 5) Accurately documenting the process and findings. 6) Sharing and obtaining opinions and findings with other professionals who interact with the child, especially when there are concerns.
The AAP has an algorithm that uses surveillance as a routine at every well-child visit. If concerns are found, then a screening tool is recommended. The AAP guidelines recommend an additional emphasis at the 4-year and 5-year well-child visits since this is when attention and early learning problems may start to be recognized (4). It is recommended that standardized developmental screening be automatically done at ages where critical developmental problems can be identified more reliably which are at the 9, 18, and 30 month visits. At 18 and 24 months of age, there should be an additional screening for autism spectrum disorder (ASD), of which there are several ASD-specific screening tools (6).
A developmental screening tool is a method that needs to be done in a prescribed way, and that has sensitivity and specificity for identifying children with delay or derangement in development. Informal evaluation of children and informal questioning of parents do not work as well. There is a good chance of missing problems because of the need to look at multiple domains in development. For example, a physician asking about walking and other motor skills may miss language and other cognitive deficits. Physicians have been shown to be poor at identifying children with developmental delays without the use of screening tools (1). Children who undergo routine screening are more likely to have delays detected and be referred to early intervention than those who are not routinely screened.
There are two main types of screening: standardized parent questionnaires, and directly administered tools looking to see what a child is able to do, in conjunction with parent report. While directly administered screening tools will usually take more time and effort, they are typically more comprehensive and are recommended as a follow up to an abnormal initial parent questionnaire (1).
Parental questionnaires can be done very efficiently by having a parent fill these out prior to the clinic visit, or while in the waiting room. These can be easy to administer and score, and inexpensive. Although a clinician might wonder how sensitive or specific these are, most parents are actually good observers of their children and have the benefit of seeing what a child is able to do over a longer period of time compared to the clinician. Also, parents are directly engaged in the process of screening when they fill out a questionnaire (1). There are many different parent-completed screening tools available (4), including two that have been extensively evaluated, called the Ages and Stages Questionnaire (ASQ) and the Parents’ Evaluation of Developmental Status (PEDS) (1).
The AAP algorithm guides what to do with the results of screening that are positive. Positive screens lead to 1) referral for more definitive evaluation and assessment of etiology, and 2) referral to early intervention systems and early childhood education programs for children younger than the age of five years (4).
Because development is ongoing with time, and because measuring development at very young ages cannot evaluate the full complexity of the various developmental domains at later ages, it is important to continue to assess children using tools appropriate for their age throughout their entire development. Fortunately, children attending school usually have assessments administered by the school on a periodic basis. These can be curriculum based (a teacher knows the grade level of the books a child can read at), or criterion based (tests based on data of a population which is used to establish norms).
The role of the physician in developmental screening is therefore especially important prior to the school years. Physicians should access early intervention services and then special education programs for their children with developmental concerns less than 5 years of age.
Questions
1. Developmental delay occurs in approximately what percentage of children?
a. 1.5%
b. 12 %
c. 17%
d. 33 %
e. 42%
2. What is the best clinical situation to try to identify children with developmental disorders from developmentally normal children?
a. Primary care clinic/office
b. Emergency department
c. Hospital ward
d. Pediatric intensive care unit
e. Pediatric specialty clinic
3. When is the best age (out of the following choices) for a physician to administer a developmental screening tool?
a. In utero
b. 2 years
c. 6 years
d. 10 years
e. 17 years
4. AAP guidelines recommend that standardized developmental screening for children be done at ages:
a. 3, 9, and 12 months
b. 9, 24, and 30 months
c. 9, 18, and 30 months
d. 12, 18, and 24 months
e. 12, 18, and 30 months
References
1. Zablotsky B, Black LI, Maenner MJ, Schieve LA, et al. Prevalence and Trends of Developmental Disabilities among Children in the United States: 2009-2017. Pediatrics 2019;144(4):e20190811. doi: 10.1542/peds.2019-0811
2. Vitrikas K, Savard D, Bucaj M. Developmental Delay: When and How to Screen. Am Fam Phys 2017;96(1):36-43.
3. Scharf RJ, Scharf GJ, Stroustrup A. Developmental Milestones. Pediatr Rev 2016;37(1):25-38. doi: 10.1542/pir.31-9-364
4. Lipkin PH, Macias MM, Council On Children with Disabilities, Section on Developmental and Behavioral Pediatrics. Promoting Optimal Development: Identifying Infants and Young Children with Developmental Disorders Through Developmental Surveillance and Screening. Pediatrics 2020;145(1):e20193449. doi: 10.1542/peds.2019-3449
5. Sheldrick RC, Schlichting LE, Berger B, Clyne A, et al. Establishing New Norms for Developmental Milestones. Pediatrics 2019;144(6):e20190374. doi: 10.1542/peds.2019-0374
6. Hyman SL, Levy SE, Meyers SM, American Academy of Pediatrics, Council on Children With Disabilities and Section on Developmental and Behavioral Pediatrics. Identification, Evaluation, and Management of Children With Autism Spectrum Disorder. Pediatrics 2020;145(1):e20193447. DOI: 10.1542/peds.2019-3447
Answers to questions
1.c, 2.a, 3.b, 4.c