Approach to delay or regression in developmental milestones: Clinical sciences

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Introduction0:00–0:37

Developmental milestones are behaviors and functional skills that children typically achieve by a specific age, in a predictable sequence.
Developmental delay occurs when a child doesn’t meet an expected milestone on time, while developmental regression refers to the loss of previously acquired skills.
Any delay or regression can impair a child’s ability to learn, communicate, and interact with others. Developmental delay and regression may impact one or more domains, including motor, language, cognitive, and social-emotional development.
Now, when a pediatric patient presents with a chief concern suggesting a developmental delay or regression... your first step is to obtain a focused history and physical exam and administer a validated developmental screening tool.

H&P0:37–4:36

Keep in mind that general developmental screening tools are used for surveillance purposes, but if a caregiver has a specific concern, you should use a specific screening tool.
Developmental screening tools assess age-specific behaviors and skills across all developmental domains, which include gross and fine motor, cognitive, language, and social-emotional.
Remember to also perform hearing and vision screening. Here’s a clinical pearl!
Developmental screenings are routinely administered at the 9-, 18-, and 30-month well-child visits, and autism-specific screening is administered at the 18- and 24-month visits.
However, screening can be administered at any point if a caregiver has a concern. Any child with a positive screen may benefit from a comprehensive developmental evaluation to assess developmental delay, even if caregivers report no specific concerns.
Okay, most patients present during early childhood, typically before the age of 5, with missed, delayed, or lost developmental milestones.
Caregivers are often the first to report concerns about the child's development or behavior. History may reveal risk factors for developmental delay or regression, including prematurity; low birth weight; and brain damage conditions, such as hypoxic-ischemic injury, intraventricular hemorrhage, and prenatal exposure to substances like alcohol.
Be sure to ask about adverse childhood experiences, such as financial hardship, parental absence, or community violence.
Finally, remember to ask about a family history of developmental disorders, as some cases of delay or regression have a genetic component.
Now, the developmental screening tool may identify concerns in one or more domains; while the vision or hearing screening may reveal vision or hearing impairment.
With these findings, consider developmental delay or regression. Time for some clinical pearls!
When assessing your patient, remember that children with developmental disorders such as autism spectrum disorder may present with atypical behavior or communication styles rather than true developmental delay or regression.
Another important thing to keep in mind is that some children with developmental delays, and almost all children with developmental regression, have an underlying medical, genetic, or environmental cause.
For example, developmental regression can be caused by neurologic conditions, such as Tay-Sachs disease or seizure disorders; metabolic disorders, like inborn errors of metabolism or hypothyroidism; or genetic disorders, especially Rett syndrome, a neurodevelopmental disorder that mostly affects biological females and presents with progressive loss of language and motor skills.
Okay, once you consider developmental delay or regression, your next step is to arrange for a comprehensive developmental evaluation.
This includes a detailed developmental and behavioral history, direct observation of behavior, and standardized testing of motor, language, and cognitive skills.
Then, assess the developmental domain of concern. Here’s a high-yield fact!
Many children with delay or regression require additional diagnostic evaluation, especially if they present with abnormal exam findings.
For example, if your patient has atypical facial features, consider genetic testing; and if you notice abnormal tone or reflexes, consider neuroimaging.
Let’s start with concerns from left to right, starting with the motor domain. History might be significant for hypoxic-ischemic brain injury, which often leads to cerebral palsy, one of the most common causes of motor delay.

Motor delay4:36–5:30

Physical examination may reveal abnormal tone; muscle weakness, hypertrophy or atrophy; or abnormal reflexes. You may also notice asymmetry in the patient’s posture, gait, or limb movement.
For example, preferential use of one limb may indicate weakness and coordination issues in the non-preferred limb. Additional findings might include leg length discrepancy or joint laxity.
Finally, the comprehensive developmental evaluation will identify gross or fine motor deficits, confirming a motor delay.
Moving on, if language is the identified area of concern, consider a communication delay. You can further categorize communication delays as language delays, which involve difficulty learning and using language; and speech delays, which include difficulty with speech production and pronunciation.

Language delay5:30–7:06

Now, history might reveal hearing impairment. But, if the comprehensive developmental evaluation identifies deficits in expressive language, which is how the child articulates thoughts; or in receptive language, which is how the child understands language, you can confirm a language delay.
On the flip side, history might again reveal hearing impairment, while the exam may demonstrate a craniofacial abnormality such as a cleft lip or palate; or a tongue or lip tie.
Meanwhile, the comprehensive developmental evaluation might identify impaired speech production, meaning the child cannot produce clear, understandable speech.
If so, diagnose a speech delay. Time for a clinical pearl!
Stuttering is a common fluency disorder characterized by repetition of words or sounds, as in “We- we- we want candy” or “We want c-c-candy".
Another common language delay is lisping, an articulation disorder in which a child cannot effectively pronounce certain sounds, or they consistently mispronounce them.
For example, they might pronounce sing as thing or zebra as thebra. Switching gears, let’s talk about concerns in the cognitive domain.

Cognitive delay7:06–8:32

Cognitive development encompasses learning, memory, reasoning, and problem-solving. Important cognitive milestones acquired during early childhood include recognizing familiar people; showing interest in and exploring the environment; properly using common items like bottles, cups, and spoons; learning colors, letters, and numbers; and asking questions.
Children with cognitive delay may have a history of prenatal exposure to substances like alcohol, resulting in Fetal Alcohol Syndrome.
History might also reveal hypoxic-ischemic brain injury or a known genetic condition, such as fragile X or Trisomy 21. Meanwhile, the exam might demonstrate macrocephaly or microcephaly, as well as characteristic facial features suggesting a genetic condition.
For example, small, wide-set eyes; a thin upper lip; and a smooth philtrum suggest Fetal Alcohol Syndrome; while up-slanting palpebral fissures, a flattened nasal bridge, and small ears suggest Trisomy 21.
The developmental evaluation will reveal cognitive deficits, which confirm cognitive delay. Finally, there could be a concern in the social-emotional domain.

Social-Emotional Delay8:32–9:09

Children rely on healthy social-emotional development to establish and maintain relationships, and to identify and regulate emotions and behavior.
Children with social-emotional delays often struggle with interactive and perceptive social skills, like initiating a conversation or understanding social cues.
These children often struggle with changes in routines or schedules. The comprehensive developmental evaluation typically shows deficits in social communication and interaction, which confirms a social-emotional delay.

Review9:09–9:42

Alright, as a quick recap... When a pediatric patient presents with concerns suggesting developmental delay or regression, obtain a focused history and physical exam, and perform developmental, hearing, and vision screening.
A history of missed, delayed, or lost milestones, caregiver concerns, or positive screening requires a comprehensive developmental evaluation.
Results may identify deficits in one or more domains, confirming a motor, language, cognitive, or social-emotional delay.