Early childhood development focuses on physical well-being, the development of motor skills and social interaction patterns, and the attainment of specific cognitive and communication skills. Developmental delay occurs when children are slow to achieve expected age-related norms for specific skills and may suggest underlying disease states. Developmental disabilities tend to be chronic conditions that affect social, physical, or cognitive development; these are reported in about 9% of children. Early intervention improves developmental outcomes with the potential for immediate and lasting effects. The American Academy of Pediatrics recommends developmental surveillance at every well-child visit, using a validated developmental screening tool during the 9-, 18-, 24-, and 30-month well-child visits. The US Preventive Services Task Force found insufficient evidence to support universal developmental screening for autism spectrum disorder or speech and language disorders at these ages. Family physicians should use their best judgment when deciding whether to implement universal developmental screening. Numerous screening tools are available with comparable sensitivity and specificity profiles at varying costs. For any child with developmental concerns, referral for diagnostic evaluation is warranted with access supported by federal law. Children younger than 3 years should be referred to early intervention services. Children 3 years and older are typically referred to school-based programs, although they may not be available to children in private schools without access to these resources. Chromosomal microarray testing or exome sequencing is recommended for children who have developmental disabilities without an explainable cause. Continued surveillance and/or screening is warranted at future appointments.
Early childhood development focuses on physical well-being, the development of motor skills and social interaction patterns, and the attainment of specific cognitive and communication skills. Developmental delay occurs when children take longer than expected to reach specific developmental milestones compared with their peers and may suggest underlying disease states. Developmental disabilities tend to be chronic conditions that begin in childhood and can affect patients’ social, physical, or cognitive development. Recent estimates suggest that about 9% of children 3 to 17 years of age are affected by developmental disabilities. The prevalence of specific childhood developmental disabilities is summarized in Table 1.1,2 Males are nearly four times more likely than females to have developmental disabilities or autism spectrum disorder (ASD).1,3,4
WHAT’S NEW ON THIS TOPIC
| In 2022, the CDC and the American Academy of Pediatrics created a revised family-friendly CDC milestones checklist based on a threshold at which 75% of children would be expected to reach certain milestones. |
| Studies demonstrate that phenotypical features of autism spectrum disorder become relatively fixed as early as 14 months of age, permitting early detection. |
| In a study of pediatricians, formal early intervention services training for the physician and a greater number of years spent in practice were associated with greater knowledge of early intervention, suggesting that clinical expertise in primary care may positively impact community child development outcomes. |
CDC = Centers for Disease Control and Prevention.
SORT: KEY RECOMMENDATIONS FOR PRACTICE
| Clinical recommendation | Evidence rating | Comments |
|---|---|---|
| Developmental surveillance should be performed at every well-child visit.18,26–29 | C | Consensus expert opinion |
| Use of a validated developmental screening tool at the 9-, 18-, and 30-month well-child visits should be considered to increase detection of and referrals for developmental delays.26,28,29,31,32,37–39 | C | Consensus expert opinion and disease-oriented evidence from lower-quality studies* |
| Use of a validated screening tool should be considered to test for autism spectrum disorder at the 18- and 24-month well-child visits.18,28,29,35,36,38,39 | C | Consensus expert opinion and disease-oriented evidence from lower-quality studies* |
| Children identified as being at risk for developmental delay through surveillance and screening should be promptly referred to state early intervention services or school district programs for evaluation and therapies to improve developmental outcomes. These patients should also undergo medical evaluation by appropriate specialists.15–23,26,28,29 † | B | Systematic review/meta-analysis of lower-quality studies |
| Children with a diagnosis of autism or global developmental delay should have chromosomal microarray testing or exome sequencing; males should also have fragile X testing.18,26,52–54 | C | Consensus expert opinion and disease-oriented evidence from lower-quality studies |
AAP = American Academy of Pediatrics; USPSTF = US Preventive Services Task Force.
A = consistent, good-quality patient-oriented evidence; B = inconsistent or limited-quality patient-oriented evidence; C = consensus, disease-oriented evidence, usual practice, expert opinion, or case series. For information about the SORT evidence rating system, go to https://www.aafp.org/afpsort.
*—Although the AAP strongly recommends the universal use of a validated screening tool for detecting autism and developmental delays at the suggested intervals, the USPSTF found insufficient evidence to support universal use.
†—Appropriate medical entities may include, but are not limited to, developmental-behavioral pediatrics, psychology, neurology, and medical genetics. These entities may not conduct autism-specific diagnosis and treatment and may require additional referrals.
Read the full article
Get immediate access, anytime, anywhere.
Choose a single article, issue, or full-access subscription.
Earn up to 14 CME credits per issue.
