Infant care - Overview

Diseases

Overview

Introduction

Infant care during the first year of life is of particular importance. During this period many neurodevelopmental, metabolic, and physical disorders become apparent. Abnormalities recognized and promptly addressed may improve or at least preserve overall function and quality of life. Anticipatory guidance, addressing parental concerns, and maintaining appropriate levels of immunizations are the priority in well infant exam care. Early childhood home-visiting services can improve child health and family well-being: the American Academy of Pediatrics (AAP) recognizes home visits as an integral part of a comprehensive early childhood system.[1]

Parental expectations regarding care of a well infant range from a short conversation answering specific questions or concerns to a complete examination, screening tests, and age-specific immunizations.[2] Although there is no direct evidence of benefit from repeated physical exams, they are routine in most US pediatric practices.[3] [4] [5]

The age-specific recommendations and priorities included are based on current "Bright Futures" recommendations from the AAP, which encourage the most comprehensive level of screening and management.[4] Additional recommendations from the Cochrane databases and other organizations such as the American Academy of Family Physicians (AAFP), the Centers for Disease Control and Prevention (CDC), the World Health Organization (WHO), and the US Preventive Services Task Force (USPSTF) are also included:

CDC: infants and toddlers (approximate ages 0-3)

USPSTF: pediatric recommendations

WHO: recommendations on maternal and newborn care for a positive postnatal experience

WHO: pregnancy, childbirth, postpartum and newborn care: a guide for essential practice (3rd edition)

WHO: improving early childhood development

AAP: Bright Futures

Well-child examinations

Newborn physical assessment includes:[4] [6] [7]

Newborn physical assessment

Created by the BMJ Knowledge Centre

The goals of well-child examinations are to maximize development, detect treatable diseases early, and provide information. Most of the assessment can be done while taking a history from the parent and by observing the child. Improvements in surveillance tools and processes could help to identify concerns, support developmental screening decisions, and allow timelier referral to early intervention.[8]

Recommendations for screening examinations at various ages in infancy

Created by the BMJ Knowledge Centre

Routine blood sample-based newborn screening is performed on a near universal basis in developed countries and has significantly decreased potential morbidity and mortality of a wide range of inborn metabolic and some genetic disorders among infants.

Newborn screening is mandatory in the US and is state-based.[9] All 50 states screen neonates for congenital hypothyroidism, galactosemia, and phenylketonuria (PKU). Routine screening typically includes at least some of the following, with variation between states:[9] HRSA: recommended uniform screening panel

Amino acid metabolism disorders
Biotinidase deficiency
Congenital adrenal hyperplasia
Congenital hypothyroidism
Cystic fibrosis
Fatty acid metabolism disorders
Galactosemia
Glucose-6-phosphate dehydrogenase deficiency (G6PD)
Human immunodeficiency disease (HIV)
Organic acid metabolism disorders
Sickle cell disease and other hemoglobinopathy disorders and traits
Toxoplasmosis.

As detection thresholds are intentionally at the lower range of a potentially abnormal result, the potential for false positive result may be elevated in some screening assays. Abnormal results should be promptly addressed with repeat testing of the abnormal result and appropriate specialty evaluation expeditiously arranged. In view of variation in the newborn screening panels between states, it is important for the individual practitioner to remain aware of which conditions are included on a particular state neonatal assay.

Although specific recommendations for screening are addressed at various ages, it remains the decision of the individual practitioner to weigh the risks/benefits associated with a particular screening intervention, such as a false positive result or any morbidity from follow-up, with a late detection/diagnosis.[10] [11] [12] [13] [14]

Developmental milestones

In the US, 1 in 6 children ages 13 to 17 years are diagnosed with a developmental disability.[15] Because early intervention services can have a significant impact on a child's long-term outcomes, the AAP recommends that developmental surveillance (longitudinal monitoring) aimed to identify children at risk for developmental delay occurs during every health supervision visit.[16] This surveillance, coupled with formalized screening using validated tools, is the best available strategy for timely identification of delays and referral for early intervention services.[16] The CDC have partnered with the AAP to convene an expert working group to revise and update its developmental surveillance checklists for pediatric providers.[8] [17] The CDC "Learn the Signs. Act Early" program facilitates parental engagement in milestone tracking.[17] Their publicly-available toolkit includes developmental milestone checklists, a Milestone Trackers App, and videos to engage families and encourage ongoing conversations with their child's pediatric healthcare providers.

The WHO provides a number of recommendations in improving early childhood development in all infants.WHO: improving early childhood development

Hearing screening

In the US, hearing loss is the most commonly diagnosed condition by newborn screen, with about 5000 infants born every year with permanent moderate to profound bilateral hearing loss.[9] The estimated incidence of permanent congenital hearing loss is 1/3000 live births.[18] [19] Risk factors associated with a higher incidence of permanent hearing loss include neonatal intensive unit admission >5 days, family history of permanent childhood hearing loss, craniofacial anomalies, in-utero infections (e.g., cytomegalovirus), physical findings of a syndrome or diagnosis of a syndrome known to include hearing loss, neurodegenerative disorders, postpartum infections (e.g., meningitis), and head trauma.[4] However, often diagnosis and treatment are delayed until ages 1 to 2 years, particularly in those who are deemed to be at low risk.[20] [21] Hearing loss is attributed as a cause for many developmental morbidities, particularly communication, cognition, reading, and social-emotional development.[22] [23]

To maximize the developmental potential for infants who are deaf or hearing impaired, all infants should undergo hearing screening prior to discharge from the birth hospital and no later than 1 month of age, using physiologic measures with objective determination of outcome, and this is now mandated in most states.[4] [18][24][25] The WHO recommends screening all newborns using otoacoustic emissions (OAE) or automated auditory brainstem response (AABR) to promptly detect permanent bilateral hearing loss.[26] Newborns found to have a hearing deficit at screening should receive a comprehensive audiologic evaluation before 3 months of age, and appropriate intervention before 6 months of age if the hearing deficit persists.[27] [28] Regardless of the outcome from previous screenings, all infants, with or without risk factors, should be monitored for communication development during well-child visits beginning at 2 months of age.

Data from poor-quality studies suggest that universal infant hearing screening is highly effective in detecting hearing impairment, with sensitivities and specificities ranging between 50% and 100%.[29] [30] [31] Because the middle ear indices change with maturation from fetal stage to young adolescence, infant hearing screening methods with a higher degree of sensitivity need to be identified.[32] [33]

Vision screening

Although difficult to accomplish, measurement of infant visual acuity is possible. Serious vision impairment and blindness in infants must be detected as early as possible.[34]

Visual impairment is common in young children, estimated to affect 5% to 10% of all preschoolers. Because an early "sensitive period" can help early intervention, prompt and early detection, referral, and treatment at the primary care level is mandatory.[4]

Causes of serious visual impairment and blindness may originate in the prenatal, perinatal, and postpartum periods and must be promptly recognized. Impairment at birth is typically a result of congenital anomalies such as microphthalmos, anophthalmos, coloboma, congenital cataracts, infantile glaucoma, and neuro-ophthalmic lesions. Perinatally acquired causes include retinopathy of prematurity (ROP), ophthalmia neonatorum, and cortical visual impairment.

ROP, a complex condition of the developing retinal blood vessels, is one of the leading preventable causes of childhood blindness. Multiple risk factors have been studied, including general immaturity and prolonged oxygen therapy. Progression is multifactorial and possibly associated with other risk factors. The WINROP clinical algorithm utilizes weight and insulin-like growth factor (IGF)-1 to detect preterm infants at risk of severe ROP. Compared with results of actual (direct) ROP screening, the WINROP algorithm provides a noninvasive method for identifying infants at high risk of severe ROP as well as those who are not at risk.[35] A study examining the relationship between the cause/severity of hypotension in infants at <28 weeks' gestation and development of severe ROP found low cortisol levels in the presence of dopamine-resistant hypotension had a high magnitude of association with severe ROP and likely accounted for the relationship of severe ROP with "idiopathic" hypotension.[36] One study demonstrated significantly reduced odds of ROP in low birth weight survivors with trisomy 21, which may unmask a potentially identifiable genetic ROP risk component, and may eventually contribute to a laboratory-based screening tool for ROP.[37]

The AAP published guidance in 2018 that recommended a program to detect and treat ROP; it suggested that substitution of algorithms (such as WINROP) for screening measures was not justified by the existing evidence base.[38] The AAP screening program recommends that all infants with a gestational age of ≤30 weeks, or a birth weight of ≤1500 g should be screened. Other infants at risk for ROP should be also be screened, including those with a birth weight between 1500 to 2000 g or a gestational age of >30 weeks, and who have had hypotension requiring inotropic support, oxygen supplementation for more than a few days, or oxygen without saturation monitoring. Detailed criteria for initial exam, follow-up, and treatment are provided.[39]

Leukocoria (white pupillary reflex) may indicate congenital cataract, persistent hyperplastic primary vitreous, or retinoblastoma. Although few surgical or medical options beyond adaptive care such as low vision aids and rehabilitation are available for congenital anomalies or neuro-ophthalmic disorders, surgery for congenital cataracts should occur within the first 4 months of life to achieve greatest potential benefit.[34]

The USPSTF reports that screening tests have reasonable accuracy in identifying strabismus, amblyopia, and refractive error in children ages 3 to 5 years with these conditions, with no evidence of harm. The balance of benefits and harms are uncertain in children younger than 3 years. They conclude that early detection and treatment of these conditions can improve visual acuity and reduce long-term amblyopia. As such, the USPSTF recommends screening to detect amblyopia or its risk factors (strabismus, refractive errors, and media opacity) in children ages 3 to 5 years.[40] The AAP, the American Academy of Ophthalmology, and the American Association For Pediatric Ophthalmology and Strabismus strongly support vision assessment from birth onward.AAO: vision screening for infants and children - 2022 Recommendations include a detailed ocular history, vision assessment (ability to fix and follow), external inspection of eyes and eyelids, ocular motility assessment, pupil exam, and red reflex exam.[41] AAO: vision screening for infants and children - 2022 The cover test and Hirschberg light reflex are typically used to screen for strabismus. Newer automated photoscreening methods can detect amblyogenic risk factors such as strabismus, media opacities, and significant refractive errors, but they cannot specifically detect amblyopia.[34] [40]

All children with ocular abnormalities or failed vision screening, and any high-risk child, should be referred to an a clinician experienced in treating children for a specialized eye exam.[41] AAO: vision screening for infants and children - 2022 Children deemed high risk include extremely premature newborns and those with metabolic or genetic disorders, significant developmental delay or neurologic disorder, and systemic disease associated with eye abnormalities, children with any opacity of the ocular media, children with nystagmus, or children a positive family history of congenital cataract, retinoblastoma, glaucoma in childhood or retinal dystrophy/degeneration.[34] [41] AAO: vision screening for infants and children - 2022

Images

Newborn physical assessment
Recommendations for screening examinations at various ages in infancy

Citations

Key Articles

Hagan JF, Shaw JS, Duncan PM, eds. Bright Futures: guidelines for health supervision of infants, children, and adolescents, 4th ed. Elk Grove Village, IL: American Academy of Pediatrics; 2017.[Full Text]
Zubler JM, Wiggins LD, Macias MM, et al. Evidence-informed milestones for developmental surveillance tools. Pediatrics. 2022 Mar 1;149(3):e2021052138.[Abstract][Full Text]
American College of Obstetricians and Gynecologists. Committee opinion no. 778: newborn screening and the role of the obstetrician gynecologist. May 2019 [internet publication].[Full Text]
World Health Organization. WHO recommendations on maternal and newborn care for a positive postnatal experience. Mar 2022 [internet publication].[Full Text]
Centers for Disease Control and Prevention. Child and adolescent immunization schedule by age: recommendations for ages 18 years or younger, United States, 2024. Nov 2023 [internet publication].[Full Text]

Other Online Resources

CDC: infants and toddlers (approximate ages 0-3)
USPSTF: pediatric recommendations
WHO: recommendations on maternal and newborn care for a positive postnatal experience
WHO: pregnancy, childbirth, postpartum and newborn care: a guide for essential practice (3rd edition)
WHO: improving early childhood development
AAP: Bright Futures
HRSA: recommended uniform screening panel
AAO: vision screening for infants and children - 2022
CDC: birth-18 years immunization schedule
CDC: catch-up immunization schedule
CDC: vaccines and immunizations
CPS: vaccine recommendations for children and youth for the 2023/2024 influenza season
AAP: how to help teething symptoms without medications
US FDA: laboratory analysis of homeopathic teething tablets

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