I. Developmental Definitions

Section references: 1,2

A. Developmental Streams

1. 1. Gross motor skills: Descriptions of posture and locomotion that involve the use of large proximal core muscle groups in the upper and lower extremities. Examples of gross motor skills include walking, running, and jumping.
2. 2. Fine motor skills: Upper extremity distal muscle coordination and hand manipulative abilities and hand-eye coordination. Examples of fine motor skills include picking up small objects between the thumb and index finger (pincer grasp).
3. 3. Visual-motor problem-solving skills: Integrated set of fine motor, eye-hand coordination, and cognitive skills. These require an intact motor substrate and a given level of nonverbal cognitive ability. Examples of visual-motor problem-solving skills include solving a puzzle or drawing shapes.
4. 4. Language: The ability to understand and communicate with another person. This is the best predictor of intellectual performance in the absence of a communication disorder or significant hearing loss.
5. 5. Personal-social skills: Communicative in origin; represent the cumulative use of language comprehension and expression and problem-solving skills to interact with others. Examples may include reciprocal play, sharing, and eye contact.
6. 6. Adaptive skills: Skills concerned with self-help or activities of daily living. Examples of adaptative skills include toileting and brushing teeth.

B. Developmental Quotient

1. 1. A calculation that reflects the rate of development in any given stream; represents the percentage of normal development present at the time of testing

1. 2. Two separate developmental assessments over time are more predictive of later abilities than a single assessment.²
2. 3. In contrast to developmental quotient (DQ), intelligence quotient (IQ) has greater statistical reliability and validity. Biases may occur in IQ test results, which may be attributable to culture and environment.

C. Abnormal Development

1. 1. Delay: Performance significantly below average in a given area of development. May occur in a single stream or several streams (“global developmental delay”)
2. 2. Deviancy: Atypical development within a single stream, such as developmental milestones occurring out of sequence. Deviancy does not necessarily imply abnormality but should alert one to the possibility that problems may exist. Example: An infant who rolls at an early age may have abnormally increased tone.
3. 3. Dissociation: A substantial difference in the rate of development between two or more streams. Example: Increased motor delay relative to cognition seen in some children with cerebral palsy (CP)
4. 4. Two separate developmental assessments over time are more predictive of later abilities than a single assessment.

II. Guidelines for Normal Development and Behavior

A. Developmental Milestones
Developmental assessment is based on the premise that milestone acquisition occurs at a specific rate in an orderly and sequential manner: See Table 9.1

B. Age-Appropriate Behavioral Issues in Infancy and Early Childhood: See Table 9.2

III. Developmental Screening and Evaluation of Developmental Disorders

A. Developmental Screening and Screening Guidelines

1. 1. Developmental surveillance should be included in every well child visit, and any concerns should be addressed immediately with formal screening. This includes direct observation of the child and eliciting and attending to the parent’s concerns.
2. 2. Standardized developmental screening should be administered at 9-month, 18-month, and 30-month well child visits, in the absence of developmental concerns. If a 30-month visit is not possible, this screening can be done at the 24-month visit.
3. 3. See full American Academy of Pediatrics (AAP) guideline for developmental screening algorithm.³

B. Commonly Used Developmental Screening and Assessment Tools: See Table 9.3

C. Identification of Developmental “Red Flags”: See Table 9.4

D. Evaluation of Abnormal Development

1. 1. Referral to developmental and appropriate specialists
2. 2. Referral to early intervention services for children aged 0 to 3 years (see Section V)
3. 3. Medical evaluation as outlined in ^{TABLE 9.5 TABLE 9.6 TABLE 9.7}
4. 4. Genetic evaluation (Table 9.8) is warranted for all children with developmental delay or intellectual disability (ID) if the cause is not known (e.g., previous traumatic brain injury or neurologic insult).

IV. Specific Disorders of Development

A. Overview

1. 1. Mental and/or physical impairment(s) that cause significant limitations in functioning
2. 2. Developmental diagnosis is a functional description; identification of an etiology is important to further inform treatment, prognosis, comorbidities, and future risk.
3. 3. Individuals with disabilities represent 12%–30% of the US population. They are a heterogenous group that unfortunately are four times more likely to report fair to poor health when compared to those without a disability. Disability is categorized as a vulnerable population with health disparities.^{4, 5, 6}
   1. a. Many children with disabilities also hold other marginalized identities, which means that providers must be cognizant of resource gaps and be intentional in addressing disparities.^7,8
4. 4. School- and home-based interventions for developmental disorders (see Section V)

B. Intellectual Disability (ID)

1. 1. Definition and epidemiology
   1. a. Deficits in general cognitive and intellectual (problem-solving) and adaptive abilities
   2. b. Affects approximately 1% of population⁹
   3. c. Some communities prefer person-centered language (person with a disability), and others prefer identity-first language (disabled person). Adapt the use to the individual and family’s preference.
2. 2. Clinical presentation
   1. a. Delay in milestones (motor, language, social)
   2. b. Academic difficulty
   3. c. Identifiable features of known associated genetic syndrome (e.g., trisomy 21, fragile X, Rett syndrome)
3. 3. Diagnosis
   1. a. Diagnostic criteria: (1) deficits in cognitive functioning, (2) deficits in adaptive functioning, (3) onset of these deficits during developmental period (before 18 years of age)
   2. b. Deficits in adaptive functioning must be in one or more domains of activities of daily living (ADLs).
   3. c. ID is further categorized as mild, moderate, severe, or profound (eTable 9.2).
4. 4. Interventions/treatmentSupport, employment, and recreational programs through resources such as are available through local programs: The Arc (https://www.thearc.org), Parents’ Place (https://www.ppmd.org/), or the Parent Center Hub (https://www.parentcenterhub.org)

C. Communication Disorders

1. 1. Definition
   1. a. Deficits in communication, language, or speech
   2. b. Important to note that children who learn multiple languages may present with language differences that are not necessarily a language disorder^10,11
   3. c. Can be subdivided into:
      1. (1) Receptive/expressive language disorder
      2. (2) Speech sound disorder
      3. (3) Childhood-onset fluency disorder (stuttering)
      4. (4) Social pragmatic communication disorder
   4. d. Differential diagnosis includes ID, hearing loss, significant motor impairment, or severe mental health difficulties.
2. 2. Interventions/treatment
   1. a. Referrals to speech-language pathology (SLP), audiology

D. Learning Disability⁹

1. 1. Definition A heterogenous group of deficits in an individual's ability to perceive and process information efficiently and accurately
2. 2. Diagnosis
   1. a. Achievement on standardized tests that is substantially below expected for age, schooling and level of intelligence in one or more of the following areas: basic reading skills, reading comprehension, reading fluency skills, oral expression, listening comprehension, written expression, mathematic calculation, and mathematic problem solving
   2. b. There is no alternative diagnosis such as sensory impairment or ID
3. 3. Intervention/treatment
   1. a. School-based services through IEP and 504 plans tailored to specific learning needs
   2. b. It is important to address the stigma associated with labeling a child as having a learning disability. This stigma may prevent families from engaging in care that can benefit the child.
   3. c. Black, non-Hispanic, and Hispanic children and children from other marginalized racial populations are less likely to be identified as having a learning disability than White, non-Hispanic children and are comparatively underrepresented in special education.¹² Ensure that all families know the resources that are available to them.
   4. d. Resources for families
      1. (1) https://www.idaamerica.org/
      2. (2) https://www.ncld.org/
      3. (3) International Dyslexia Association https://dyslexiaida.org/
      4. (4) https://espanol.ninds.nih.gov/es/trastornos/problemas-de-aprendizaje
      5. (5) https://catalog.ninds.nih.gov/

E. Cerebral Palsy (CP)

1. 1. Definition and epidemiology
   1. a. A group of disorders of the development of movement and posture attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain^13,14
   2. b. Prevalence: 2 to 3/1000 live births²
   3. c. Disparities: Black children have an increase in prevalence of CP compared to White children, and this disparity was found only in children with greater functional limitations.⁴ Following adjustment of socioeconomic status and perinatal factors, there was a paradoxical decreased risk of CP in Black children, indicating the influence of these factors on CP and their independent association in pregnant Black women.
2. 2. Clinical presentation
   1. a. Delayed motor development, abnormal tone, atypical postures, persistent primitive reflexes past 6 months
   2. b. History of known or suspected brain injury
   3. c. Manifestations may change with brain maturation and development.
3. 3. Diagnosis
   1. a. Classification is based on physiologic and topographic characteristics as well as severity (Table 9.9).¹⁵
   2. b. Brain imaging should be obtained with MRI; abnormal in 70%–90% of individuals with CP¹⁶
4. 4. Interventions/Treatment
   1. a. Baseline and ongoing medical subspecialty care, including developmental pediatrics, neurology, orthopedics, and neurosurgery
   2. b. Interdisciplinary team involvement (see Section V)
   3. c. Equipment to promote mobility and communication, including augmentative and alternative communication—any form of communication other than oral speech (eTable 9.3)¹⁷
      1. (1) Augmentative communication: Communication supports/methods used by individuals who have some speech but limited use of their speech
      2. (2) Alternative communication: Communication supports/methods used by individuals who have no speech
   4. d. Pharmacotherapy for spasticity (e.g., botulinum toxin injections, baclofen), dyskinesia, hypersalivation (e.g., glycopyrrolate, scopolamine patch)⁴⁷
   5. e. In carefully selected patients: intrathecal baclofen, selective dorsal rhizotomy, deep brain stimulation⁴⁸

F. Autism Spectrum Disorder (ASD)

1. 1. Definitions and epidemiology
   1. a. Encompasses previously named disorders of autistic disorder (autism), Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (PDD-NOS)
   2. b. Increasing prevalence; 1 in 54 children in the United States had ASD in 2018^18,19
   3. c. Almost five times more common in males than females¹⁸
2. 2. Screening
   1. a. Formal screening for ASD recommended at the 18- and 24-month visits (see AAP practice guidelines for more detailed recommendations)²⁰
   2. b. Recommendations upheld by the AAP despite a U.S. Preventive Services Task Force (USPSTF) draft recommendation statement citing insufficient evidence for screening.^21,22
   3. c. Evaluate using screening tools such as Modified Checklist for Autism in Toddlers (M-CHAT-R/F) and Childhood Autism Screening Test (CAST) (see Table 9.3).
   4. d. There are racial and ethnic differences in the evaluation and diagnoses of ASD. Black and Hispanic children with ASD are noted to receive evaluations later than White children with ASD.²³
3. 3. Diagnosis
   1. a. Symptoms vary by age, developmental level, language ability, and supports in place.
   2. b. Diagnostic criteria include⁹:
      1. (1) Impaired social communication and interaction
         • Examples: Lack of joint attention behaviors (e.g., showing toys, pointing for showing), diminished eye contact, no sharing of emotions, lack of imitation
      2. (2) Restricted repetitive patterns of behavior, interests, or activities
         • Examples: Simple motor stereotypies (hand flapping, finger flicking), repetitive use of objects (spinning coins, lining up toys), repetitive speech (echolalia), resistance to change, unusual sensory responses
      3. (3) Presentation in early childhood and significant limitation of functioning
4. 4. Interventions/treatment
   1. a. Applied behavior analysis (ABA)
   2. A treatment approach for young children with ASD is called applied behavior analysis (ABA). ABA has become widely accepted among healthcare professionals and is used in many schools and treatment clinics. ABA encourages positive behaviors and discourages negative behaviors while the child’s progress is carefully tracked and measured.⁴⁹
   3. b. Educational interventions, visual supports, naturalistic developmental behavioral interventions (integrating behavioral and child-responsive strategies to teach developmentally appropriate skills in a more natural and interactive setting)^21,22
   4. c. Referral to SLP, OT/sensory-based interventions
   5. d. Family resources
      1. (1) https://www.autismspeaks.org/technology-and-autism
      2. (2) https://www.autism-society.org/living-with-autism/treatment-options/
      3. (3) https://www.nichd.nih.gov/health/topics/autism/conditioninfo/treatments
      4. (4) https://www.autismspeaks.org/tool-kit/atnair-p-parents-guide-applied-behav...

G. Attention Deficit/Hyperactivity Disorder (ADHD): See Chapter 24

V. Longitudinal Care of Children with Developmental Disorders and Disabilities

A. Interdisciplinary Involvement

1. 1. Neurodevelopmental pediatrician, child neurologist, developmental/behavioral pediatrician, other medical subspecialties as indicated (e.g., orthopedics for CP can be very important)
2. 2. Genetic counseling for families of children with a genetic condition
3. 3. Psychologists for formal testing, counseling
4. 4. Mental health support: People with disabilities reported approximately five times more mentally unhealthy days than those in the general population.^24,25
5. 5. Rehabilitation and therapists, including physical therapy (PT), occupational therapy (OT), and SLP
6. 6. Educators and the school system
7. 7. Community and parent advocacy organizations

B. Relevant Laws and Regulation

1. 1. The Individuals with Disabilities Education Act (IDEA) sets forth regulations in the following areas for states that receive federal funding^26,27:
   1. a. Entitles all children with qualifying disabilities to a free and appropriate public education in the least restrictive environment
   2. b. Early intervention services: Infants and toddlers younger than 3 years may be referred for evaluation to receive developmental service. Eligibility criteria vary by state; see The National Early Childhood Technical Assistance Center (https://www.ectacenter.org) for details.
   3. c. Qualifying disabilities: Children aged 3 to 21 years with autism spectrum disorder, ID, specific learning disability (LD), hearing or visual impairment, speech or language impairment, orthopedic impairment, traumatic brain injury, emotional disturbance, or other health impairment are eligible.
   4. d. Individualized education program (IEP): Written statement that includes a child’s current capabilities, goals and how they will be measured, and services required. A comprehensive team is needed to develop and implement the IEP.
   5. e. Transition services: School systems must provide transition services that prepare students for postsecondary activities, and IEPs must include a statement of transition service needs starting no later than age 14. The student must be included in the IEP process starting at age 14.
   6. f. Section 504 of the Rehabilitation Act of 1973 and the Americans with Disabilities Act (ADA): Prohibits discrimination against individuals with any disability, more broadly defined as an impairment that limits function.²⁹ A Section 504 Plan can also be used to get reasonable accommodations for a child who has a disability but who does not meet criteria for special education and related services; for example, a quiet setting or extra time for testing, mobility assistance for a child who uses a wheelchair

C. Head Start and Early Head Start
Programs instituted by the federal government to promote school readiness of low-income children aged 3 to 5 years (Head Start) and younger than 3 years (Early Head Start) within their communities²⁸

VI. Transitions from Pediatric to Adult Care for Youth with Developmental Disabilities

A. The Need
Research reveals health disparities between adults with developmental disabilities and those without. Disparities include:

1. 1. Increased ED utilization
2. 2. Lack of identified adult provider
3. 3. Worse self-perception of health³⁰

B. The Role of the Pediatric Provider

1. 1. AAP Consensus Statement on Transitions^31,32
   1. a. Identify a health professional as point person to work with the youth and family on transition process.
   2. b. Create healthcare transition plan by age 14 with the youth and family. NOTE: If a child’s disability leaves them without capacity to make their own healthcare decisions, then parents must have court documents signed by two different physicians to have continued healthcare proxy (allowing parent to continue medical decision-making) established for after the child turns 18. This process should start before the child has turned 18 to avoid a lapse in the parent’s ability to act as proxy for their child.
   3. c. Apply same guidelines for primary and preventive care for all adolescents and young adults.
   4. d. Ensure affordable, continuous insurance coverage.

C. Transition Domains

1. 1. Transitions for young adults with disabilities occur across many domains of life and warrant support from an interdisciplinary team (Table 9.10).

VII. Social Determinants of Health and Adversity Significantly Impact Child Development, Attainment of Developmental Milestones, and/or Long-Term Health

A. Social Determinants of Health (SDOHs)

1. 1. Definitions and epidemiology
   1. a. SDOHs are the conditions in which people are born, grow, work, live, and age, and the wider set of forces and systems shaping the conditions of daily life.³⁴
2. 2. Five key domains³⁵:
   1. a. Economic stability (e.g., poverty and food insufficiency)
   2. b. Education (e.g., high school graduate and early childhood education)
   3. c. Social and community context (e.g., concerns about immigration status and social support)
   4. d. Health and healthcare (e.g., health insurance status and access to a healthcare provider)
   5. e. Neighborhood and built environment (e.g., neighborhood crime and quality of housing)
3. 3. The role of the pediatric provider
   1. a. Considering SDOHs among children and youth is critical given that the physical, social, and emotional capabilities that develop early in life provide the foundation for life course health and well-being.³⁶
   2. b. Screening for SDOHs has benefits such as improving diagnostic algorithms, identifying children and youth in need of more support, improving patient-provider relationships, and collecting data for epidemiological purposes.³³
   3. c. Referral to clinic, community, or state resources when appropriate

B. Adverse Childhood Experiences (ACEs)

1. 1. Definitions and epidemiology³
   1. a. All ACE questions refer to occurrences in the first 18 years of life. Studies indicate more than two-thirds of the population have experienced at least one ACE. The initial ACEs study only addressed those listed below, but there are likely many more ACEs that influence development and long-term health outcomes.
      1. (1) Abuse
         1. (a) Emotional abuse
         2. (b) Physical abuse
         3. (c) Sexual abuse
      2. (2) Household challenges
         1. (a) Mother treated violently
         2. (b) Substance abuse in the household
         3. (c) Mental illness in the household
         4. (d) Parental separation or divorce
         5. (e) Incarcerated household member
      3. (3) Neglect
         1. (a) Emotional neglect
         2. (b) Physical neglect
      4. (4) The Philadelphia ACE Project expanded the survey to include community adversity, factors that also impact development and long-term health.^38,39
         1. (a) Experience of bullying
         2. (b) Discrimination
         3. (c) Witnessing violence
         4. (d) Being in the foster care system
         5. (e) Living through adverse neighborhood experiences or adverse community environments (the “other ACEs”)
2. 2. Mechanism by which ACEs influence health and well-being throughout the life span
   1. a. There is a dose-response relationship between ACEs and long-term negative physical and mental health outcomes in adults.
   2. b. Childhood ACEs may lead to toxic stress (see section 4a) and impact multiple biologic indices (e.g., brain development, immune function, stress response system, epigenetics).
3. 3. Role of the pediatric provider
   1. a. Screening for ACEs and toxic stress with referral to resources and support can prevent long-term negative health outcomes throughout the life span.
   2. b. Supportive adult relationships are protective against toxic stress.⁴⁰
      1. (1) Pediatricians have unique opportunity to support parent-child relationships.
4. 4. Resources
   1. a. Safe Environment for Every Kid (https://www.seekwellbeing.org)
      1. (1) Stress
         1. (a) Definitions and epidemiology
            1. (i) Positive stress: Helps to guide growth
            2. (ii) Tolerable stress: Not helpful, but will not cause damage
            3. (iii) Toxic stress: Overcomes the child’s undeveloped coping mechanisms and leads to long-term impairment and illness⁴⁰
               1. (a) Results when a child experiences strong, frequent, or prolonged activation of the stress response systems in absence of protection from a supportive adult
               2. (b) Healthy brain development can be disrupted or impaired by prolonged, pathologic stress response with significant long-term implications for learning, behavior, health, and adult functioning.⁴¹
            4. (iv) Traumatic stress: The physical and emotional responses of a child to events that threaten the life or physical integrity of the child or of someone critically important to the child (e.g., parent, sibling). Examples: natural disaster, assault
               1. (a) There is a dose-response relationship to traumatic stress over time.
         2. (b) The role of the pediatric provider
            1. (i) Screening
            2. (ii) Referral to effective treatments for children who have experienced trauma
               1. (a) Trauma-focused cognitive-behavioral therapy⁴²
               2. (b) Parent-child interactive therapy⁴³
         3. (c) Resources
            1. (i) National Child Traumatic Stress Network (https://www.NCTSN.org)
      2. (2) Resilience
         1. (a) Definitions and epidemiology
            1. (i) Resilience: The process by which a child moves through a traumatic event, using various protective factors for support, and returning to a “baseline” in terms of an emotional and physiologic response to the stressor⁴⁴
         2. (b) Protective factors⁴⁵
            1. (i) Cognitive capacity
            2. (ii) Healthy attachment relationships (especially with parents and caregivers)
            3. (iii) Motivation and ability to learn and engage with the environment
            4. (iv) Ability to regulate emotions and behavior
            5. (v) Supportive environmental systems, including education, cultural beliefs, and faith-based communities
         3. (c) Resources
            1. (i) Relational Health Framework: strengths-based approach to identifying and building safe, stable and nurturing relationships as a critical public health measure to promote resilience and counter toxic stress. https://www.aap.org/en/patient-care/early-childhood/early-relational-healt...
            2. (ii) Protective Factors Framework: www.cssp.org/our-work/projects/protective-factors-framework/
            3. (iii) Strengthening Families: https://www.strengtheningfamiliesprogram.org
            4. (iv) The AAP Resilience Project: https://www.aap.org/en/patient-care/trauma-treatment-and-resilience/
            5. (v) Healthy Children: https://www.healthychildren.org

E. Relationship Between Adversity and Resilience

1. 1. Traumatic event occurs (e.g., as broad as abuse to failing a test) → stress is experienced, which elicits emotional and physiologic responses → support is received (e.g., reassurance, identification of own internal strengths, connection with adult or social supports) → stability is reobtained and the individual is more skilled in identifying and using their own internal skills while maintaining awareness of and access to external supports. When the next traumatic event occurs, the individual draws on past experiences of support and stabilizes again.

F. Diversity and Equity in Adversity and Resilience

1. 1. Childhood adversity is common across all socioeconomic demographics.
2. 2. Certain populations have increased risk of ACEs due to SDOHs and systemic barriers ⁴⁶ :
   1. a. Lower socioeconomic status
   2. b. Racial minorities or multiracial individuals
   3. c. Sexual minorities

VII. Web Resources

• Autism Speaks: https://www.autismspeaks.org
• Bright Futures: https://www.brightfutures.org
• Cerebral Palsy Foundation: https://yourcpf.org
• Disability Programs and Services: https://www.dol.gov/odep/topics/disability.htm
• Got Transition: https://www.gottransition.org
• Individuals With Disabilities Education Act (IDEA): https://idea.ed.gov
• Intellectual Disability: https://aaidd.org
• National Center for Learning Disabilities: https://www.ncld.org
• National Early Childhood Technical Assistance Center: https://www.ectacenter.org
• Reach Out and Read: https://www.reachoutandread.org

Author(s)

Brenna M. Beck, MD, MEd, Christle Nwora, MD

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