BRS – Pediatrics: Behavioral and Developmental Pediatrics

BRS – Pediatrics: Behavioral and Developmental Pediatrics

Source: BRS Pediatrics, 2019

I. Normal Developmental Milestones

A. General principles
1. Developmental assessment and surveillance are central components of health maintenance.
2. Developmental domains include motor, language, cognitive, and social–emotional skills.
3. It is essential to understand normal development and acceptable developmental variations in young children to recognize pathologic patterns. In addition, it is important to monitor the attainment of developmental milestones in each domain to accurately identify children with developmental delays who may benefit from early intervention.
4. Development typically occurs in an orderly, predictable, intrinsic manner.

a. Development proceeds from head to toe in a proximal to distal fashion.
b. Generalized reactions to stimuli develop into more specific, goal-directed reactions that become increasingly precise.

5. Normal development is an uneven process with wide variation in the attainment of milestones.
6. Development may be influenced by both intrinsic factors (e.g., child’s physical characteristics, state of health, temperament, and genetic attributes) and extrinsic factors (e.g., temperament of family members, economic status, caregiver mental health, availability of learning experiences in the environment, and the cultural setting into which the child is born).

B. Developmental assessment
1. Understanding developmental milestones provides a systematic way to assess an infant’s progress.

a. Attainment of a particular skill depends on the achievement of earlier skills (only rarely are skills skipped).
b. Delays in one developmental domain may impair development in another domain (e.g., deficits caused by neuromuscular disorders may affect a child’s ability to explore the environment, which in turn affects cognitive development).
c. A deficit in one developmental domain may compromise the assessment of skills in another domain (e.g., it may be difficult to assess problem-solving skills in the child with cerebral palsy who understands the concept of matching geometric forms, but lacks the physical ability to demonstrate that knowledge).

2. Developmental screening is crucial during the first 3 years of life and is an essential component of the well-child visit. Standardized screening tests provide structured methods of assessing developmental progress; however, parental concern should not be disregarded, even if the initial screen is normal. Identifying young children with delays allows them to benefit from early intervention when brain growth is most rapid and plastic.
3. Developmental quotients (DQs) are used to determine whether a child’s development is delayed and to measure the extent of delay. The quotient may be calculated as follows:

a. DQ > 85: normal
b. DQ < 70: abnormal
c. DQ 70–85: borderline delay

4. Further developmental testing and assessment is needed if a child “fails” a screen. These children are typically referred to a clinical psychologist or developmental–behavioral pediatrician. In addition, these children benefit from an evaluation through their state’s Part C early intervention programs.
C. Developmental domains include motor development, language skills, cognitive development, and social–emotional skills.
1. Motor development. Information about motor milestones should be obtained from the history as well as from the physical examination.

a. Gross motor development evaluation includes an assessment of milestones and neuromaturational markers. Milestones of gross motor development are listed in Table 2-1. Neuromaturational markers should also be assessed; these include primitive reflexes and postural reactions, as described in Table 2-2.

1. Primitive reflexes, such as the Moro reflex, develop during gestation and are present at birth. They usually disappear between 3 and 6 months of age. Each primitive reflex requires a specific sensory stimulus to generate the stereotypical motor response. Infants with central nervous system (CNS) injuries show stronger and more sustained primitive reflexes (i.e., they may persist and not disappear as expected).
2. Postural reactions, such as the parachute reaction, are not present at birth (i.e., they are acquired). These reactions, which help facilitate the orientation of the body in space, require a complex interplay of cerebral and cerebellar cortical adjustments to proprioceptive, visual, and vestibular input. Infants with CNS damage may have delayed development of postural reactions.

b. Fine motor skills involve the use of the small muscles of the hands. An infant’s fine motor skills progress from control over proximal muscles to control over distal muscles. Fine motor milestones are listed in Table 2-3.

1. During the first year of life, as balance in sitting improves, the hands become more available for the manipulation of objects. As control over distal muscles improves, reaching and manipulative skills are enhanced.
2. During the second year of life, the infant learns to use objects as tools (e.g., building blocks).

c. Red flags in motor development

1. Persistent hand fisting beyond 3 months of age is often the earliest sign of neuromotor problems.
2. Lack of steady head control beyond 2 months.
3. Early rolling over, early pulling to a stand instead of sitting, and persistent toe walking may all indicate spasticity.
4. Spontaneous postures, such as scissoring in a child with spasticity or a frog- leg position in a hypotonic infant, are important visual clues to motor abnormalities.
5. Early hand dominance (before 18 months of age) may be a sign of weakness of the opposite upper extremity associated with a hemiparesis. Hand preference generally develops between 4 and 5 years of age.
6. Any asymmetries to movement

d. Differential diagnosis of motor delay includes CNS injury, spinal cord dysfunction, peripheral nerve pathology, motor end plate dysfunction, muscular disorders, metabolic disorders, and neurodegenerative conditions.

2. Language skills
a. General principles

1. Delays in language development are more common than delays in other domains.
2. Receptive language is always more advanced than expressive language (i.e., a child can usually understand 10 times as many words as he or she can speak).
3. Language and speech are not synonymous. Language refers to the ability to communicate with symbols (i.e., in addition to speech, this includes sign language, gestures, writing, and “body language”). Speech is the vocal expression of language.
4. A window of opportunity for optimal language acquisition occurs during the first 2 years of life.
5. Basic speech and language milestones are listed in Table 2-4.

b. Periods of speech development

1. Prespeech period (0–10 months of age): Expressive language consists of musical-like vowel sounds (cooing) and then adding consonant sounds (babbling). Receptive language is characterized by an increasing ability to localize sounds.
2. Naming period (10–18 months of age) is characterized by the infant’s understanding that people have names and objects have labels.
3. Word combination period (18–24 months of age): Early word combinations are “telegraphic” (e.g., without prepositions, pronouns, and articles). Typically, children begin to combine words 6–8 months after they say their first word.

c. Differential diagnosis of speech or language delay

1. Global developmental delay
2. Hearing impairment
3. Environmental deprivation
4. Autism spectrum disorders
5. Intellectual disability

3. Cognitive development involves skills in thinking, memory, learning, and problem- solving.
a. General principles

1. Intellectual development depends on attention, information processing, and memory.
2. Infant intelligence can be estimated by evaluating problem-solving and language milestones. Language is the single best indicator of intellectual potential. Gross motor skills correlate poorly with cognitive potential.
3. In the school-age child, standardized intelligence tests measure both verbal skills and performance (nonverbal) skills. Significant discrepancies between verbal and nonverbal abilities suggest possible learning disabilities.

b. Stages in cognitive development

1. The sensorimotor period (birth to 2 years of age) is a time during which the infant explores the environment through physical manipulation of objects. At first, the infant brings objects to the mouth for oral exploration. As peripheral motor skills improve, the infant’s ability for precise manual–visual manipulation improves, leading to true inspection of objects. The infant therefore progresses from “learning to manipulate” to “manipulating to learn.”
2. The stage of functional play begins at about 1 year of age when the child recognizes objects and associates them with their function (e.g., a 15-month- old puts a toy telephone to their ear and vocalizes).
3. The stage of imaginative play begins when the child is able to use symbols (24–30 months of age; e.g., a young child uses blocks to build forts, or uses sticks as eating utensils or trains).
4. Concrete thinking (i.e., interpreting things literally) evolves during the preschool and early elementary school years.
5. Abstract thinking (i.e., manipulating concepts and contingencies) evolves during the adolescent years.

c. Cognitive concepts that evolve over time

1. Object permanence, developing at about 9 months, is the concept that people and objects continue to exist even when an infant cannot see them. As a result of this ability to maintain an image of a person, separation anxiety (common at 6–18 months of age) develops when a loved one leaves the room.
2. Cause and effect is understanding which actions cause certain results (e.g., learning that dropping toys over the high chair tray makes them fall to the floor). Infants typically explore this concept at 9–15 months of age.
3. Magical thinking is a normal state of mind during the preschool toddler years when a child assumes that inanimate objects are alive and have feelings.

d. Red flags in cognitive development. Language development estimates verbal intelligence, whereas problem-solving skills estimate nonverbal intelligence.

1. If skills are delayed significantly in both language and problem-solving domains, intellectual disability should be considered.
2. If only language skills are delayed, a hearing impairment or a communication disorder should be considered.
3. If only problem-solving skills are delayed, visual or fine motor problems that interfere with manipulative tasks may be present.
4. If there is a significant discrepancy between language and problem-solving skills, the child is at high risk for a learning disability.

4. Social–emotional skills are the ability to interact and empathize with other people. Development of social skills depends on cultural and environmental factors. Several important milestones develop in the first 3 years of life.
a. Attachment. Bonding with a primary caregiver begins at birth. Developing empathy is critical during the first 3 years of life.
b. Shared (joint) attention. Emerges between 8 and 10 months of age when the infant follows the caregiver’s gaze. By 14 months of age, children begin pointing to request something, or show something spontaneously to a caregiver or social partner, to share awareness of an object or event. By 18 months of age, most children can point at, bring or share something with another person to indicate interest.
c. A sense of self and independence. The process of separation and individuation begins at about 15 months of age.
d. Social play. Toddlers exhibit parallel play during the first 2 years of life. They learn to play together, share, and cooperate at about 3 years of age. Fantasy and more complex types of interactive play emerge by 5 years of age.
e. Red flags in social–emotional development

1. Lack of smiling or joyful expressions at 6 months of age
2. Rarely responding to name when called at 12 months of age
3. Not demonstrating the ability to initiate or understand joint attention by 18 months of age
4. No emergence of pretend play by 3 years of age

Table 2-1. Gross Motor Milestones*
Birth Turns the head side to side
2 months Lifts the head when lying prone
Head lag when pulled from the supine position
4 months Rolls over
No head lag when pulled from the supine position
Pushes the chest up with the arms when lying prone
6 months Sits alone
Leads with the head when pulled from the supine position
8–10 months Crawls
9 months Pulls to stand
Cruises
12 months Walks
*Normal infants show significant variation in the attainment of these milestones.

Table 2-2
Primitive Reflexes and Postural Reactions

Description of Reflex/Reaction Appears Disappears
Primitive Reflexes
Moro reflex: Symmetric abduction and extension of arms with trunk extension, followed by
adduction of upper extremities Birth 4 months of
age
Hand grasp: Reflex grasp of any object placed in the palm Birth 1–3 months
of age
Atonic neck reflex: If the head is turned to one side, arms and legs extend on the same side and
flex on the opposite side (“fencer position”) 2–4 weeks
of age 6 months of
age
Rooting reflex: Turning of the head toward the same side as stimulus when a corner of the
infant’s mouth is stimulated Birth 6 months of
age
Postural Reactions
Head righting: The ability to keep the head vertical despite the body being tilted 4–6 months
of age Persists
Parachute: Outstretched arms and legs when the body is abruptly moved head first in a
downward direction 8–9 months
of age Persists
Table 2-3
Fine Motor Milestones*

Age Milestone
Birth Keeps hands tightly fisted
3–4 months Brings hands together to midline and then to the mouth
4–5 months Reaches for objects
6–7 months Rakes objects with the whole hand. Transfers the object from hand to hand
9 months Uses immature pincer (the ability to hold small objects between the thumb and index finger)
12 months Uses mature pincer (the ability to hold small objects between the thumb and tip of the index finger)
*Normal infants show significant variation in the attainment of these milestones.

Table 2-4
Basic Language Milestones*

Age Milestone
Birth Attunes to human voice
Develops differential recognition of parents’ voices
2–3 months Cooing (runs of vowels), musical sounds (e.g., ooh-ooh, aah-aah)
6 months Babbling (mixing vowels and consonants together) [e.g., ba-ba-ba, da-da-da] 9–12 months Jargoning (e.g., babbling with mixed consonants, inflection, and cadence)
Begins using mama, dada (nonspecific)
12 months 1–3 words, mama and dada (specific)
18 months 4–20 words
2 years Over 50 words
Two-word telegraphic sentences (e.g., mommy come)
25–50% of child’s speech should be intelligible
3 years Three-word sentences
More than 75% of the child’s speech should be intelligible

*Normal infants show significant variation in the attainment of these milestones.

II. Disorders of Development

A. Motor deficits
1. Cerebral palsy
a. Definition. Cerebral palsy is a diverse group of static (i.e., nonprogressive) encephalopathies caused by injury to the developing brain in which motor function is primarily affected. Intelligence may be normal, but injuries to the brain that cause cerebral palsy often lead to other neurologic effects, including seizures, cognitive deficits, intellectual disability, learning disabilities, sensory loss, and visual and auditory deficits.
b. Epidemiology and etiology. Risk factors for cerebral palsy are listed in Table 2-5. The timing of the injury may be prenatal or perinatal, or it may occur during the first few years of life. The incidence of cerebral palsy in the world is 2 in 1000 children. Low birth weight and preterm birth are the biggest risk factors. Ten to fifteen percent of surviving infants with birth weight < 1500 g have cerebral palsy.
c. Diagnosis. Diagnosis is based on repeated neurodevelopmental examinations showing increasing tone or spasticity, hypotonia, asymmetric reflexes or movement disorder, persistence of primitive reflexes, or emergence of postural responses.
d. Classification of cerebral palsy
1. Spastic cerebral palsy. Affected patients have increased tone. This type of cerebral palsy may be subclassified into three groups.
a. Spastic diplegia involves the lower extremities more than the upper extremities or face.
b. Spastic hemiplegia is characterized by unilateral spastic motor weakness.
c. Spastic quadriplegia is characterized by motor involvement of the head, neck, and all four limbs.
2. Extrapyramidal cerebral palsy (commonly referred to as athetoid cerebral palsy). These patients have problems modulating the control of the face, trunk, and extremities, often writhing. Significant oral motor involvement often occurs.
e. Management of cerebral palsy. The primary goal is to optimize functionality of adaptive skills. This includes mobility, self-care, communication, educational attainment and social participation. Treatment programs should be individualized and are typically interdisciplinary (e.g., physical therapy, special education, orthopedics, and neurology).
2. Other causes of motor deficits include metabolic abnormalities (see Chapter 5, section V), chromosomal abnormalities (see Chapter 5, section IV), motor neuron diseases, degenerative diseases, spinal cord injury, congenital myopathies, leukodystrophies, and CNS structural defects.
B. Cognitive deficits include intellectual disability and learning disabilities.
1. Intellectual disability is defined as significant limitations in both intellectual functioning and adaptive behavior (e.g., self-care, social skills, work, and leisure). It is manifested before 18 years of age, typically in early childhood.
a. Etiology. Causes are listed in Table 2-6.
b. Classification and diagnosis. Using an appropriate psychometric measure of intelligence (intelligence quotient [IQ]) and measures of adaptive behavior, the degree of intellectual disability can be classified as
1. Mild (IQ = 50–70)

2. Moderate (IQ = 35–50)
3. Severe (IQ = 25–35)
4. Profound (IQ < 25)
c. Management
1. Early intervention programs promote optimal development.
2. Behavior therapy is used to teach activities of daily living and manage behavior problems.
3. Special education to optimize learning of academic and self-help skills
4. Community resources and parent support groups are helpful.
5. Medication is used to treat comorbid behavioral and emotional disorders.
6. There is a trend away from institutionalization of individuals with intellectual disability. Many with mild to moderate intellectual disability live in group homes and work in sheltered or supported environments.
2. Learning disabilities are defined as a heterogeneous group of disorders manifested by a significant discrepancy between a child’s academic achievement and the level expected on the basis of age and intelligence.
a. Etiology. Causes include CNS injuries (e.g., prematurity, closed head injury, lead poisoning, fetal alcohol syndrome), genetic disorders (e.g., fragile X syndrome), and metabolic disorders (e.g., galactosemia). The most common cause is idiopathic.
b. Types of learning disabilities include deficiencies in specific academic subjects (e.g., developmental disorders of reading, mathematics, or written expression). Dyslexia is the most common specific learning disability, accounting for ∼80% of learning disabilities, presenting initially as early delays in language development.
c. Management. A psychoeducational evaluation (typically includes IQ and academic achievement testing) is needed to establish a diagnosis. Classroom accommodations, special education, individualized instruction, and bypass strategies (e.g., presenting information verbally for the child with a specific reading disorder) may be used to help compensate for the learning disability.
C. Autism spectrum disorder. This developmental disability is characterized by persistent deficits in social communication and repetitive/restrictive patterns of behavior, interests, or activities.
1. Epidemiology
a. Incidence is 1 in 68. Incidence has increased as incidence was 1 in 150 in 2000.
b. Increased incidence is related in a large part to early screening/detection and broader diagnostic criteria.
c. Autism is more common in boys (4:1 ratio).
2. Etiology
a. Multifactorial. Genetics explains 10–20% (many genes implicated). The extent to which environmental, epigenetic, and medical risk factors contribute has yet to be determined.
b. Strong evidence has shown that vaccinations do not cause autism.
3. Clinical features
a. Qualitative impairment in social communication (all three of the following are present on evaluation or by history)
1. Deficits in social–emotional reciprocity (back and forth interactions)
2. Deficits in nonverbal communicative behaviors used for social interaction
3. Deficits in developing, maintaining, and understanding relationships
b. Repetitive, restricted, and stereotyped patterns of behavior, activities, and interests (two of the following criteria present on evaluation or by history)

1. Stereotyped or repetitive motor movements, use of objects, or speech
2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior
a. Highly restricted, fixated interests with abnormal intensity or focus
b. Hyper- or hyporeactivity to sensory input; unusual interest in sensory aspects of the environment
c. Symptoms are present in early childhood.
d. Symptoms cause significant functional impairment (e.g., learning, adaptive behavior, peer/family relationships).
e. Spectrum is wide (high functioning vs. low functioning) with many individual differences in presentation.
4. Associated conditions may include intellectual disability, learning disabilities, epilepsy, tic disorders, sleep disorders, feeding disorders, attention deficit/hyperactivity disorder (ADHD), other psychiatric conditions, and genetic syndromes (e.g., Fragile X).
5. Management. There are many interventions to treat “core” symptoms of autism, but none are curative.
a. Primary treatments include behavioral interventions (ABA [applied behavioral analysis]), special education, speech–language therapy, occupational therapy and social skills training. ABA is a set of principles used to understand and modify behavior in the context of the child’s environment. ABA has the best evidence in treating the core symptoms of autism in young children.
b. Medication may be needed to manage comorbid psychiatric conditions or maladaptive behaviors unresponsive to other approaches.
D. ADHD. This disorder is characterized by poor selective attention, difficulty focusing, distractibility, hyperactivity, impulsivity, disinhibition, and social immaturity.
1. Epidemiology and etiology
a. Occurs in about 5% of the pediatric population
b. ADHD is more common in boys (2:1 ratio).
c. The cause of ADHD is unknown.
1. Genetic factors play a large role. Up to 30–50% of affected children have a first-degree relative with ADHD.
2. Abnormalities in neurotransmitter function, especially dopamine and norepinephrine, are associated with symptoms.
3. Several risk factors have been implicated (e.g., preterm birth, fetal alcohol spectrum disorder).
2. Differential diagnosis (Table 2-7)
3. Clinical features. Specific criteria must be present, including the following:
a. Onset of symptoms before 12 years of age
b. Symptoms in more than one setting (e.g., school and home)
c. Impairment in functioning (e.g., academic performance, personal relationships)
d. Symptoms of inattention, including not being able to focus during classroom instruction, difficulty with organization, and forgetfulness
e. Symptoms of hyperactivity–impulsivity, which may include fidgeting, acting as if driven by a motor, excessive talking, blurting out answers before a question is completed, and difficulty remaining seated in the classroom
4. Potential consequences of ADHD on a child
a. Difficulty conforming to a routine
b. Social adjustment problems
c. Damage to self-esteem
d. Impaired relationships with parents and peers

e. Difficulty learning
f. Comorbidities (two-thirds of patients have a comorbidity) include anxiety, tic disorder, oppositional-defiant disorder, and obsessive–compulsive disorder
5. Assessment and diagnosis of ADHD
a. Assessment includes parent and teacher behavior rating scales, psychoeducational testing, direct observation, a complete history and physical examination, and hearing and vision testing.
b. Most valid, reliable assessments use several sources (teachers, parents, and counselors) and combine several methods. Direct and specific observations using validated questionnaires are most useful.
c. A key focus of assessments should be to identify the child’s strengths and coping strategies.
6. Management. Therapy is multifaceted and includes the following:
a. Demystification. Explaining ADHD to the child and family, correcting myths and misconceptions, is critical.
b. Classroom modifications. Preferential seating and elimination of distractions may be useful.
c. Educational assistance. Help should be tailored to the individual needs of the student. Strategies include placement in small groups or one-on-one teaching, help with organizational skills, and strategies to bypass weak areas (e.g., keyboarding if handwriting is a problem).
d. Behavior management/therapy is the first-line treatment for preschool children. This involves parent and teacher training and includes consistent rewards and consequences.
7. Medications
a. Stimulants are the first-line pharmacologic treatment for grade school children and adolescents. These drugs may improve attention, impulsivity, and hyperactivity.
1. Mechanism of action. Stimulants appear to enhance catecholamine transmission in the CNS. Higher levels of dopamine and norepinephrine improve ADHD symptoms.
2. Dosage. The dosage needed to control symptoms varies among patients and is not weight based.
3. Adverse drug reactions (Table 2-8). Medication effects should be monitored
using side effect diaries and behavior rating scales.
4. Stimulant options include methylphenidate and dexamphetamine derivatives. More than 80% of children with ADHD will clinically improve with either a methylphenidate or dexamphetamine derivative.
b. Nonstimulant medications may be considered as second-line therapy. These drugs most commonly include atomoxetine and alpha-2 agonists (e.g., clonidine and guanfacine). Alpha-2 agonists may be especially useful at bedtime to counter stimulant effects or in combination with a stimulant for patients who have comorbid aggression or tic disorders. Atomoxetine may be useful in patients with comorbid anxiety.

Table 2-5
Risk Factors for Cerebral Palsy

Risk Category Specific Risk Factor
Maternal Multiple gestation
Preterm labor

Prenatal Intrauterine growth retardation
Congenital malformations
Congenital infections (e.g., TORCH infections)
Perinatal Prolonged, precipitous, or traumatic delivery
Apgar score < 3 at 15 minutes
Prematurity (<37 weeks) or postdates (>42 weeks) birth
Postnatal factors Hypoxic–ischemic encephalopathy
Intraventricular hemorrhage
Trauma
Kernicterus
TORCH = toxoplasmosis, other infections (syphilis), rubella, cytomegalovirus, herpes simplex.

Table 2-6
Causes of Intellectual Disability

Etiologic Category Specific Etiologic Factor
Idiopathic
Genetic causes
Chromosome abnormalities (e.g., Down syndrome, Fragile X syndrome) Inborn errors of metabolism (e.g., Hurler syndrome)
Single gene abnormalities (e.g., tuberous sclerosis)
Prenatal and perinatal problems
Fetal malnutrition Placental insufficiency
Maternal drug and alcohol use
Brain malformations (e.g., hydrocephalus) Perinatal hypoxia or asphyxia
Infection (e.g., herpes simplex, rubella, cytomegalovirus, toxoplasmosis)
Environmental problems
Psychosocial deprivation Parental mental illness
Postnatal acquired insults
Infection (e.g., meningitis, encephalitis) Head trauma
Nonfatal drowning
Table 2-7
Differential Diagnosis of Attention Deficit/Hyperactivity Disorder

Hearing or vision deficits
Sleep disorders, including obstructive sleep apnea
Autism
Thyroid disease
Anemia
Toxins or heavy metal exposure (e.g., lead poisoning)
Anxiety
Depression
Bipolar disorder
Intellectual disability
Specific learning disabilities
Medication side effects (e.g., albuterol, steroids, anticonvulsants, decongestants, antihistamines)
Family dysfunction
Normal child, but parents have unreasonable expectations for age or developmental stage
Table 2-8
Adverse Drug Reactions of Stimulants

Anorexia
Weight loss is the most common adverse drug reaction
Insomnia
More common with long-acting stimulants

Gastrointestinal
Nausea and abdominal pain
Headache
Irritability
Common as the stimulant is wearing off
Cardiovascular
Palpitations and hypertension
Effect on stature
Methylphenidate may decrease growth velocity, but ultimately stature is not affected significantly
Tics
Tourette syndrome and attention deficit/hyperactivity disorder may be genetically related
Transient tics occur in almost 10% of children treated with stimulants

III. Specific Sensory Impairments
A. Hearing impairment
1. Epidemiology. This affects 2–4 per 1000 live births in developed countries and upward of 6 per 1000 in developing countries. More than half of these infants are normal newborns who have no obvious evidence of suspected hearing impairment.
2. Early identification of the hearing-impaired child is vital because language and communication outcomes are demonstrably better if intervention occurs before 6 months of age. Sequelae of late identification include delayed speech and language skills and academic and behavior problems.
3. Etiology
a. Type of hearing loss relates to the anatomical section of the ear in which the abnormality occurs.
1. Conductive hearing loss: external and/or middle ear
2. Sensorineural hearing loss: inner ear of the cochlea, nerve transmission of the vestibulocochlear nerve
3. Central hearing loss: auditory pathways from the brainstem to cerebral cortex
4. Mixed: a combination of the above
b. Genetic factors account for at least 50% of sensorineural hearing loss; 80% of genetic transmission occurs by autosomal recessive inheritance of the connexin gene.
c. About 20% of childhood hearing loss is caused by perinatal, prenatal, or postnatal factors (e.g., congenital infections, prematurity, bacterial meningitis, middle ear anomalies).
4. Prognostic factors. The variables that influence the impact of hearing loss on function and development include
a. Degree of loss
b. Etiology. Children with acquired deafness are at higher risk for other neurologic impairment.
c. Family atmosphere. Family willingness and ability to use sign language have a major impact on the child.
d. Age at onset of acquired deafness. Children who become deaf before 2 years of age are at a disadvantage compared with those who are able to incorporate language structure before deafness.
e. Timing of amplification and educational interventions. The earlier this occurs, the better.
f. Cochlear implants. Although these may lead to dramatic improvements in hearing, their use is controversial in some deaf communities.
5. Medical evaluation for hearing loss
a. Complete history, including history of perinatal infections and antibiotic exposure
b. Complete physical examination, focused on a thorough ear examination and identifying findings suggestive of a genetic syndrome (e.g., cleft lip/palate, ear pits)
c. Genetics evaluation and chromosome studies if there are suspicious clinical findings or family history
d. Creatinine level, because of the association between kidney disease and ear abnormalities (Alport syndrome; see Chapter 11, section VIII.B)
e. Viral serologies if clinically indicated, looking for toxoplasmosis, rubella, cytomegalovirus, herpes, and other viruses that can cause deafness (i.e., TORCH

infections)
f. Consider magnetic resonance imaging (MRI) of the inner ear if etiology is undetermined.
6. Hearing screening recommendations are given in Chapter 1, section IV.D.
B. Visual impairment
1. Incidence is 1.5 per 1000 children (almost 90% are from developing countries)
2. Leading causes of blindness in children:
a. Chlamydia trachomatis infection is common in developing nations and is the
primary cause of blindness worldwide.
b. Retinopathy of prematurity (see Chapter 18, section VII)
c. Congenital cataracts (see Chapter 18, section VIII.A)
3. Effects of blindness on development include delayed locomotion, decreased fine motor skills, and difficulties with attachment.
4. Adaptive skills
a. Developing auditory perception skills
b. Using haptic perception (e.g., feeling someone’s face to form a mental image of them by combining kinesthetic spatial feedback and input from tactile sensation)
5. Vision screening is described in Chapter 18, section I.

IV. Common Behavioral Concerns
A. Colic. Colic is significant because it has the potential to disrupt attachment between infant and parents, and it can be a source of family stress.
1. Definition. Colic is crying that lasts >3 hours/day and occurs >3 days/week. (Normal crying usually lasts up to 2 hours/day at 2 weeks of age and increases to 3 hours/day at 3 months of age.)
2. Epidemiology. Colic occurs in approximately 10% of newborns.
3. Etiology. Colic has an unknown basis and may have many causes.
4. Characteristic features
a. Occurs in healthy, well-fed infants
b. Begins at 2–4 weeks of age and resolves by 3–4 months of age
c. Involves periods of irritability, which typically begin in the late afternoon or early evening
5. Differential diagnosis. Sources of pain and discomfort that may be confused with colic include intestinal gas, milk protein intolerance, gastroesophageal reflux disease, food allergy, corneal abrasion, otitis media, testicular torsion, inguinal hernia, and digital ligature (i.e., hair wrapped around finger or toe).
6. Management
a. Treat any identified conditions.
b. Reassure parents that their infant is healthy and that the colic is not the parents’ fault.
c. Recommend comfort measures, which may include decreased sensory stimulation (e.g., placing the infant in front of a blank wall), increased sensory stimulation by movement or vibration (e.g., automobile rides, rocking, stroller rides), or positioning (e.g., swaddling or placing infant on his or her side or stomach while awake).
B. Enuresis
1. Definition. Enuresis is urinary incontinence beyond the age when the child is developmentally capable of continence (>4 years of age for daytime continence and
>5 years of age for nocturnal continence).
2. Classification is based on the timing and history.
a. Timing: Continuous incontinence refers to continuous wetting and is usually associated with congenital malformations of the urinary tract system, in contrast to intermittent incontinence that may be nocturnal or daytime only.
b. History: Primary incontinence describes a patient who has never been consistently dry. In secondary incontinence a patient has a history of at least 6 months of prior consecutive dryness.
3. Epidemiology
a. Incidence is based on age. Bed-wetting occurs at least monthly in
1. 30% of 4 year olds
2. 15–20% of 5 year olds
3. 10% of 6 year olds
4. 3% of 12 year olds
b. Fifteen to twenty percent of those with nocturnal enuresis also have diurnal or daytime incontinence.
4. Etiology. The causes of enuresis are typically unknown but may include the following:
a. Genetics. There is about a 45% chance that a child will have enuresis if one parent had enuresis, and about a 75% chance if both parents had it. Several genes have

been identified.
b. Psychosocial. Secondary enuresis is often associated with stressful situations, such as the birth of a sibling, death of a family member, or the separation of parents.
c. Chaotic social situation at home may contribute to poor voiding habits and daytime incontinence.
d. Sleep–arousal mechanisms play an elusive role. Although not proven, parents frequently report that children with nocturnal incontinence have deeper sleep and are more difficult to arouse than dry siblings. Obstructive sleep apnea is a risk factor for nocturnal incontinence.
e. Urine volume. Some patients may produce large volumes of dilute urine, which may be caused by lack of normal diurnal variation in vasopressin release.
f. Bladder capacity. Some children may have a small bladder capacity.
g. Organic causes of secondary enuresis include urinary tract infections, child abuse, and diabetes mellitus.
h. Constipation is a comorbid or etiologic factor in some patients. Hard stool can impinge on the bladder. Symptoms of encopresis may be present.
5. Evaluation
a. History should include questions about family history, pattern of enuresis, associated symptoms, time of onset, and parental interventions or attempts at therapy.
b. Physical examination should be complete and include an evaluation of the abdomen, genitals, perineal sensation, anal wink reflex, and lower spine. A neurologic examination should also be performed.
c. Laboratory evaluation
1. Urinalysis and urine culture
2. Additional laboratory or imaging studies should be tailored to the history and physical examination. Imaging of the kidney and bladder, MRI of the spine, or other studies may be appropriate.
6. Management of uncomplicated nocturnal enuresis
a. Education. It may help to uncover misconceptions, remove blame from the child,
and explain anatomy and physiology.
b. Conditioning alarms. An alarm sounds every time urination occurs, and the child learns to respond in anticipation. This technique is successful in two-thirds of cases, but it requires patient motivation and parental support. This therapy must be used for a minimum of 3–5 months.
c. Pharmacotherapy. Medications, if used alone, result in frequent relapses. Best efficacy uses a combination of alarms, medications, and behavioral modification as outlined below.
1. Desmopressin acetate (DDAVP), which decreases urine volume, is used because the child with enuresis may have an abnormal circadian rhythm for release of arginine vasopressin. Although a child may achieve complete dryness with DDAVP, relapse after termination of medication is common. Hyponatremia is a possible side effect of DDAVP.
2. Tricyclic antidepressants have limited efficacy to decrease the frequency of nighttime wetting. Imipramine is the most widely used of these agents. Patients often relapse after medication is discontinued, and there is a danger of fatal cardiac dysrhythmias with an overdose.
d. Other management options. Behavioral modification (e.g., star charts, praise for dry nights, limited fluids before bed, voiding before bed), hypnotherapy, and treating coexisting constipation may be useful.

7. Management of diurnal enuresis. Effective interventions may include bladder stretching exercises (if small bladder capacity is suggested), scheduling timed voiding every 90– 120 minutes, and treatment of coexisting constipation if present.
C. Encopresis (see Chapter 10, section VII.A.2)
D. Sleep problems
1. Epidemiology. It is estimated that more than half of infants experience sleep problems as perceived by parents.
2. Normal sleep patterns
a. Day–night reversals are common in the first weeks of life. The normal pattern is random sleep for 4 weeks, after which clustering of sleep time occurs.
b. Sleeping through the night is defined as sleeping more than 5 hours after midnight for a 4-week period. Fifty percent of infants sleep through the night at 3 months of age.
3. Abnormal sleep patterns
a. Trained night waking occurs between 4 and 8 months of age when the infant does not resettle without parental intervention (e.g., feedings, rocking, attention) during normal night stirrings and awakenings. Management includes establishing routines and placing the infant in bed while drowsy but awake.
b. Trained night feeding occurs when the infant continues to wake to eat because the parents keep responding to the wakening with a feeding. Management includes lengthening intervals of daytime feeding and teaching parents not to respond with a feeding every time the infant stirs.
4. Common sleep problems
a. Nightmares are common after 3 years of age, although they may occur as early as 6 months of age. These frightening dreams tend to have themes of threats to security, separation, self-esteem, or survival. They occur during rapid eye movement (REM) sleep.
1. History. The child is able to give a detailed recall of extended and frightening dreams. The child rapidly becomes alert and oriented after awakening.
2. Management. Reassurance by the parents and comforting measures are helpful. It is important to address the child’s needs for security and to promote regular sleep patterns and good sleep habits. Any inciting causes (e.g., frightening movies) should be identified and eliminated. Nightmares are usually transient and not very disruptive.
b. Night terrors are common at 3–5 years of age but have a pattern distinct from ordinary nightmares. Night terrors occur 90–120 minutes after sleep onset during non-REM stage 4 sleep.
1. History. Parents describe a child who suddenly arouses screaming and thrashing with signs of autonomic arousal such as tachypnea, tachycardia, and diaphoresis. The child does not respond to visual or verbal cues, and parents report the child stares “glassy-eyed” without seeing. The child does not remember the incident the next day.
2. Management. Reassuring parents and telling them that the episodes usually terminate spontaneously and will resolve over time is helpful.
E. Selective eating
1. Epidemiology. Selective eating (i.e., picky eating) is common in preschoolers with approximately 50% affected. Parents may report problems such as food refusal, food gorging, and food jags (when a child will only eat a single food item or a very small group of food items, meal after meal, and a perception that the toddler does not eat

enough).
2. Characteristics
a. Appetite normally decreases after 1 year of age.
b. Control is the major issue in toddler feeding problems. Autonomy is more important than hunger to children at this stage.
c. Children also reject food because they dislike the flavor, texture, or appearance.
3. Management. Successful management includes avoiding power struggles, offering food without comment, shared responsibility in what to eat, offering a variety of foods, making meals fun and enjoyable, and establishing a set meal schedule. Parents should be counseled to avoid bribes, pressuring, or forcing the child to eat. Feeding provides physical and social contact with caregivers and forms the foundation for healthy parent– child relationships.
4. Associated conditions. Severe selective eating is associated with several conditions, including autism spectrum disorder, anxiety disorders, failure to thrive, and preterm birth.
F. Anxiety
1. Developmentally appropriate anxiety
a. Fears and worries are part of normal child development. Developmentally appropriate anxiety includes the emergence of stranger anxiety during the first 1– 2 years of life, fears about monsters and the dark during the preschool years, fears about injury and natural events during school-age years, and academic performance and social competence fears during adolescence.
b. Management typically includes parent and child reassurance, guidance, and education.
2. Anxiety disorders. Anxiety disorders are characterized by excessive and developmentally inappropriate worry that significantly impairs a child’s functioning.
a. Epidemiology. Anxiety disorders are common among children and adolescents. They are typically more frequent in girls than in boys (2–3:1 ratio). More than 70% of adults diagnosed with an anxiety disorder had symptoms in childhood. Childhood anxiety disorders are highly predictive of major depression during adulthood.
b. Symptoms. Children frequently present with somatic complaints (stomach ache, headache), anger, irritability, and crying. Anxiety interferes with the child’s normal functioning in multiple settings, and affects peer and family relationships.
c. Types. Triggers are wide ranging and can include excessive worry in a number of areas (generalized anxiety disorder), excessive and developmentally inappropriate distress when the child is separated from home or major attachment figures (separation anxiety disorder), feelings of fear or discomfort in social and performance situations (social phobia), and the presence of obsessions or compulsions that cause marked distress and are time-consuming (obsessive compulsive disorder).
d. Selective mutism is an anxiety-related condition in which the child is unable to speak in certain social settings where speaking is expected (e.g., school, daycare), despite speaking in other typically more familiar settings (e.g., home). Children are typically extremely shy. Onset of symptoms usually occurs before 5 years of age and lasts for greater than 1 month. Between 10 and 30% of children have a history of speech–language delay. Selective mutism is highly correlated with social phobia.
e. Management. Cognitive-behavioral therapy (CBT) is typically the first-line treatment, as there is substantial evidence supporting its use in treating childhood

anxiety disorders. Medication with a selective serotonin reuptake inhibitor (e.g., fluoxetine) is used for patients with CBT-resistant anxiety, or for severely impairing and unremitting anxiety.
G. Temper tantrums. These are expressions of emotions (usually anger) that are beyond the child’s ability to control.
1. Epidemiology. Temper tantrums are common between 1 and 3 years of age.
2. Etiology. Frustration, hunger, or fatigue may cause tantrums. Children with poor fine motor skills or expressive language delays are likely to have more tantrums because of frustration. Tantrums are not necessarily manipulative or willful and may be related to individual differences in temperament.
3. Management
a. Tantrums that demand something should be ignored.
b. Children should be encouraged to verbalize their feelings (learned by 3 years of age). This helps to decrease tantrums.
c. Developmentally appropriate behavior management helps (see section IV.K).
H. Breath-holding spells
1. Definition. Breath-holding spells are benign episodes in which children hold their breath long enough to cause parental concern. The spells are involuntary in nature, harmless, and always stop by themselves.
2. Epidemiology. Breath-holding spells occur in 4% of young children, usually starting between 6 and 18 months of age and disappearing by 5 years of age. Equal male/female prevalence.
3. Types
a. Cyanotic breath-holding spells are most common and are usually precipitated by an event that makes the child frustrated or angry. The child cries and becomes cyanotic, and in some cases becomes apneic and unconscious, or may have a seizure.
b. Pallid breath-holding spells are often provoked by an unexpected event that frightens the child, resulting in a hypervasovagal response, in which the child becomes pale and limp.
4. Management
a. Reassure the parents that the episodes will resolve without harm.
b. Counsel parents not to undertake potentially harmful resuscitation efforts.
c. Iron supplementation has been reported to help some patients, but the mechanism of benefit is not clear.
d. If the spells are precipitated by exercise or excitement rather than by frustration or fright, an electrocardiogram may be indicated to rule out a dysrhythmia (e.g., prolonged QT syndrome or supraventricular tachycardia).
I. Sibling rivalry
1. Manifestations include bids for attention, regressive symptoms (e.g., wanting a bottle or going back to diapers), and aggression toward a new sibling. The arrival of a newborn is especially stressful for children younger than 3 years of age. Jealousy is frequently demonstrated up to 5 years of age.
2. Management
a. Before arrival of a newborn. Methods for prevention include talking about the arrival of the new baby and praising the child for mature behavior. Mastery of new skills (e.g., toilet training) should not be demanded during this stressful time.
b. In older children. Children should be encouraged to settle their own arguments without hitting, name calling, or property damage. Parents should try to keep out of arguments, teach children how to listen to one another, protect each child’s

personal possessions, and praise children for good behavior.
J. Toilet training
1. Age normals. The age at which young children achieve urinary and bowel continence around the world is highly variable, ranging from as early as 18 months of age up to 3– 4 years of age. This variability is due to differences in cultural expectations, parenting practices, and training methods, as well as definitions of urinary/bowel continence. It is unlikely that physiologic differences explain such wide variation in the achievement of continence.
2. Prerequisites
a. The child must understand the meaning of words such as wet, dry, pee, poop, clean, messy, and potty.
b. The child prefers being dry to being wet or soiled.
c. The child recognizes the sensation of bladder fullness and the urge to defecate, is able to hold urine and stool, and has the communicative ability to inform a caregiver.
d. The child has the motor skills and coordination to sit on the toilet seat.
3. Management. Stress encouragement, praise, and patience. Avoid shaming or blaming the child.
a. Parents should allow multiple practice tries with praise for cooperation. It may be necessary to give small rewards or use sticker charts, but social reinforcement is best.
b. Parents should avoid pressure or force, which tends to make the child uncooperative. Resistance to toilet training symbolizes a power struggle between child and parents. This is a sign to take a break and resume when the child shows interest in toileting again.
c. Point out to parents that autonomy issues are important in toilet training, which proceeds optimally when parents appreciate the child’s need for mastery.
K. Discipline issues
1. The basic premise of discipline is teaching the child limits. Parents must teach the child to respect the rights of others and control his or her behavior. Parents must provide external controls over the child’s behavior, beginning at about 6 months of age. Children should start developing internal controls (self-control) between 3 and 4 years of age.
2. Discipline techniques are most effective when they are based on the developmental needs and stages of the child.
a. Before 6 months of age, no discipline is indicated.
b. As the infant becomes more mobile, distraction and redirection can be used to ensure the child’s safety.
c. From 18 months to 3 years of age, ignoring, time-out, and disapproval (both verbal and nonverbal) may be effective.
d. In preschool children, logical consequences (e.g., taking away a toy that is used to hurt another child) may be effective.
e. After 5 years of age, negotiation and restriction of privileges are used.
3. Rules must be clear, concrete, and consistent. Parents should state explicitly what the desired behaviors are and ignore unimportant misbehavior.
4. Guidelines for using punishment. Apply consequences and make the punishment brief and immediate. Follow the consequence with love and trust. Direct the punishment toward the behavior, not the person.
5. Time-out is a highly effective form of discipline when used appropriately and consistently, but it is frequently used inappropriately and inconsistently by parents.
a. Definition. The caregiver interrupts misbehavior by isolating the child from social

interactions for a brief period of time.
b. Purpose. The child has time to think about the misbehavior and what acceptable behavior could be.
c. Length. There are no steadfast guidelines for the duration of time-outs, but the general rule of thumb is that they should last no longer than 5 minutes. The key is that the duration of time-outs should be established ahead of time to avoid ambiguity.
d. Time-out is ineffective without time-in. Time-in refers to brief, nonverbal affection or verbal praise when the child displays appropriate or acceptable behavior. The goal of time-in is to reinforce positive behaviors.

Review Test
1. The parents bring a 13-month-old child to the office for a routine health maintenance visit. The child has been well since the last health maintenance visit, and the parents have no concerns today. The parents report he is sleeping through the night in his own crib and has a balanced diet and normal elimination patterns. During your physical examination, you perform a screening developmental evaluation. Which of the following findings on your developmental assessment would be most likely to merit a referral for a more thorough developmental evaluation?
A. The child cruises but is not walking independently.
B. The child’s only words are mama, dada, dog, and ball.
C. The child is afraid of strangers.
D. The child neither eats with a spoon nor drinks from a cup.
E. The child appears to be left-handed.
2. You are seeing a 1-month-old male infant in your office for a routine health maintenance visit. He was born at 32 weeks’ gestation and had Apgar scores of 3 at 1 minute and 8 at 5 minutes. His hospital course was unremarkable, and he has been feeding and growing well since going home. His mother is now concerned that he is at a higher risk for cerebral palsy because of his prematurity. It would be most appropriate to make which of the following comments?
A. It is unlikely that the child has cerebral palsy because his growth and development so far are normal.
B. If cerebral palsy does develop, it will cause loss of developmental milestones.
C. The child is at very high risk for cerebral palsy because of his prematurity.
D. Repeated examinations will be necessary to assess for cerebral palsy.
E. Laboratory testing can determine whether the child has cerebral palsy.
3. At a routine health maintenance visit, the parents of a 1-year-old child would like to learn more about toilet training. Which of the following information is most appropriate to give the parents?
A. It is important that toilet training begin now.
B. Toileting is a skill to be learned just like any other and depends on the interests and readiness of the child.
C. It is important that the parents establish control over toileting now or the pattern will be set for losing power struggles later.
D. Toilet training should be finished as soon as possible for the good of caregivers and the environment.
E. Whatever the parents and grandparents agree on is appropriate.
4. Parents in your practice are concerned about the increased incidence of autism that they have been reading about in the press. Which of the following histories would be most reassuring for parents worried that their child may be diagnosed with autism spectrum disorder?
A. The parents report that their child does not enjoy playing with other children and prefers to play alone.
B. The parents report that their child is clumsy.
C. The parents describe that their child engages in repetitive lining up of objects.
D. The parents report that their child has a fascination with letters and numbers.
E. The parents report that their child has significant language delay.
5. The parents of a 7-year-old boy bring him to see you because of secondary enuresis. He achieved daytime dryness when he was 2.5 years of age and was dry at night by 3 years of age. Recently, he has developed dribbling incontinence, which embarrasses him at school. The parents do not report any recent psychosocial stress, but they are concerned that he trips often

when he walks quickly or runs. His physical examination is normal, except you cannot elicit an anal wink reflex. Urinalysis and urine culture are both normal. Which of the following would be the most appropriate next management step?
A. Neuroimaging studies of the brain and spine
B. Bladder stretching exercises
C. Trial of desmopressin (DDAVP)
D. Trial of imipramine
E. Psychological counseling
6. You are evaluating a toddler during a routine health maintenance visit, which includes a thorough developmental assessment. The parents report that their son is able to point to three to five body parts, uses approximately 60 words that his parents understand, and says two- word telegraphic phrases. 50% of his words are understandable. Assuming his language skills are normal for age, how old is this child?
A. 13 months
B. 15 months
C. 18 months
D. 24 months
E. 30 months
7. On screening in the newborn nursery, an infant has an abnormal hearing screen. His examination is otherwise normal. Which of the following etiologic factors most likely explains the hearing loss in this infant?
A. Prenatal factors, such as maternal substance abuse
B. Perinatal factors associated with a preterm or traumatic delivery
C. Postnatal infection, such as meningitis
D. An autosomal recessive genetic defect
E. An autosomal dominant genetic defect
8. The mother of a 9-year-old boy brings him to the pediatrician because her son is exhibiting hyperactivity and inattention in school. Before this year, the boy has performed well in school and has shown no signs of hyperactivity or inattention. His teacher reports that the boy is restless in the classroom and frequently leaves his seat. His mind seems to wander during the teacher’s lectures. On questionnaires, the teacher confirms the inattention and hyperactivity. The boy shows no symptoms at home, and he does well at church school and at camp. Which of the following would be the most appropriate first step in managing this patient?
A. Explaining to the parents that he meets criteria for attention deficit/hyperactivity disorder and what that diagnosis means.
B. Looking for other causes of the hyperactivity and inattention in the differential diagnosis.
C. Beginning an empiric trial of stimulant medication to see whether his symptoms improve with pharmacologic intervention.
D. Working with the school to modify the boy’s assignments and the classroom setting.
E. Referring to a counselor for self-esteem enhancement, social skills training, and behavior modification.
9. The parents of a 3.5-year-old boy are concerned that their son has been experiencing nightmares. On further questioning, you make the diagnosis of night terrors. Which of the following factors would most support your diagnosis of night terrors and not nightmares?
A. This child’s events occur approximately 30 minutes after sleep onset.
B. This child’s events are likely to decrease in frequency after age 3 years
C. The child responds to the parent’s attempts to comfort him during the events.
D. The child becomes alert and oriented immediately after the event.
E. The child does not remember the event the next day.
10. A 2-month-old male infant is brought to your office with concerns about excessive crying.

Based on the history, you suspect colic. Which of the following findings on your evaluation best supports this diagnosis?
A. The crying spells usually occur in the morning hours, lasting 2 hours every day, 5 days every week.
B. The infant’s weight has decreased and crossed two growth isobars since birth.
C. The parents have noticed an intermittent bulge in the infant’s right inguinal region associated with crying spells lasting anywhere from 2 to 6 hours.
D. The infant has been growing at the 10th percentile consistently since birth, with 3– 4 hours/day of crying, 4 days every week.
E. The infant appears to be thriving but cries for 2 hours every day of the week, more commonly in the early afternoon or evening hours.
11. The parents of an 18-month-old boy are very concerned because he has had several episodes in which he became frustrated and angry, held his breath, and turned blue. Which of the following is appropriate information for parents about breath-holding spells?
A. The spells are voluntary, and the boy is very likely deliberately trying to gain attention from the parents.
B. The age of onset for these spells is unusual.
C. The boy is unlikely to lose consciousness during a spell.
D. An electrocardiogram is indicated if the spells are associated with physical activity.
E. The spells may eventually cause learning disabilities and poor attention if they are allowed to continue.
12. A child is still in the sensorimotor stage of development. He is beginning to look over the high chair to see where a dropped object has gone and is starting to use a brush and comb on his hair. He has not yet started building forts with blocks. Assuming he is normal cognitively, which of the following is most likely his age?
A. 6–9 months
B. 10–14 months
C. 15–18 months
D. 18–24 months
E. 24–27 months

The response options for statements 13–14 are the same. Please select one answer for each statement in the following set.

A. 4 months
B. 6 months
C. 8 months
D. 10 months
E. 12 months

For each of the following infants, select the most likely age of the infant based on the infant’s developmental milestones.

1. While playing with blocks with an infant, the infant becomes upset when you hide the blocks out of view. The infant is only able to say mama and becomes upset when his mother leaves the room. He is able to hold a small object between his thumb and his index finger.
2. An infant is able to transfer objects from hand to hand and to sit alone. He is also able to mix both vowel and consonant sounds, although he is not yet saying mama and dada. You are not able to elicit a parachute reaction.

Answers and Explanations
1. The answer is E [I.C.1.c]. An early hand preference may indicate weakness or spasticity of the contralateral upper extremity. It is unusual to see a hand preference in an infant younger than 18 months. Hand preference typically emerges between 4 and 5 years of age. Infants walk at a mean age of 12 months, and the range of normal (2 standard deviations) is 9–15 months of age. Using two words in addition to mama and dada is appropriate for a 13-month-old child. Stranger anxiety is both common and normal between 6 and 18 months of age. A 13-month- old child may play with utensils but may not use them appropriately in meals until 15–
18 months of age.
2. The answer is D [II.A.1.c]. Periodic developmental evaluations and physical examinations are necessary to monitor for signs of cerebral palsy. Although it is important to evaluate this infant’s tone and reflexes, abnormalities of the motor examination are frequently not appreciated until the infant is older than 6 months. Cerebral palsy is a nonprogressive or static encephalopathy and should not lead to loss of milestones. Only a minority of low birth weight premature infants <1500 g develop cerebral palsy (10–15% incidence). No specific laboratory testing is available to diagnose or predict the course of the disease.
3. The answer is B [IV.J]. The age of toilet training coincides with the psychological stage of developing autonomy and mastering new skills. The basic principles of rewarding appropriate behaviors apply to toileting as well as to the achievement of other new skills. One year of age is too early to begin toilet training and is likely to lead to frustration and power struggles. Although environmental issues and caregiver convenience are important considerations, they are not paramount issues. Harmony between generations is desirable, but overly coercive training by controlling parents is associated with later encopresis and anxiety.
4. The answer is B [II.C.2]. Children with autism spectrum disorder have evidence of impairments in social communication and repetitive/restrictive behaviors. Difficulty using language to communicate with others is the hallmark of autism spectrum disorder, although the spectrum ranges from no verbal language to subtle deviations. People with autism may have difficulty “reading” facial expressions and hand gestures. The repetitive/restrictive behaviors are also wide ranging in its presentation and can be associated with sensory processing challenges and stereotyped mannerisms (e.g., hand flapping, sensitivity to sounds, and scripted speech) but not increased clumsiness.
5. The answer is A [IV.B.5]. This child’s history is concerning for a potential neurologic abnormality because of the reported tripping. The abnormal anal wink reflex on examination may suggest spinal cord compression or spinal nerve entrapment and the need for neuroimaging studies. Bladder stretching exercises may be appropriate for the child who wets when his functional bladder capacity is exceeded, but the history here does not suggest that small bladder capacity is the problem. Conditioning alarms, desmopressin (DDAVP), and imipramine have all been used for nocturnal incontinence, whereas this child has daytime incontinence. Secondary enuresis is usually associated with an identified stress such as the birth of a sibling, divorce in the family, or a recent move. Psychological counseling can sometimes be useful in such situations.
6. The answer is D [Table 2-4]. The language milestones described are usually achieved around the age of 24 months. At 13 months of age, most children use about three words that the parents understand and they are also able to play peek-a-boo and patty-cake. At 18 months of age, children may speak 20 words or more. At 24 months of age, children should be using multiple telegraphic two-word sentences and speak over 50 words, of which 25–50% should be understandable. At 36 months of age, children begin to use pronouns, adjectives, and adverbs; ask questions; and use sentences longer than two words.

7. The answer is D [III.A.3]. Genetic factors account for at least 50% of sensorineural hearing loss. Of these, a great majority (80%) of genetic transmission of hearing impairment is caused by inheritance of the connexin gene, an autosomal recessive trait. Maternal substance abuse, traumatic deliveries, and prematurity are less frequent causes of isolated hearing impairments. Although meningitis and prenatal congenital infections are also potential causes of hearing impairment, they are among the nongenetic factors that account for a much smaller percentage of hearing loss in infants.
8. The answer is B [II.D.3]. It is important to establish the correct diagnosis before beginning therapeutic interventions. This child does not meet the criteria for the diagnosis of attention deficit/hyperactivity disorder (ADHD) because his symptoms appeared after 7 years of age and are present in only one setting (school). It would be important to assess whether factors such as the teacher’s expectations, classroom dynamics, or peer issues are affecting his classroom behavior and performance. If a child meets the criteria for ADHD, all of the other management options become reasonable parts of a therapeutic plan.
9. The answer is E [IV.D.4]. Children with night terrors do not respond to their parents’ attempts to comfort them, do not become oriented during their arousals from sleep, and do not remember the event the next day. In contrast, children with nightmares rapidly become alert and oriented, recall details of the frightening dreams on awakening, and often recall the next day that they had a bad dream during the night. Nightmares occur in REM (rapid eye movement) sleep, whereas night terrors occur in stage 4 non-REM sleep, 90–120 minutes after sleep onset. The peak incidence for night terrors is between 3 and 5 years of age; nightmares are common after 3 years of age.
10. The answer is D [IV.A]. To qualify for a diagnosis of colic, the infant must be between the ages of 2 weeks and 4 months, be healthy and well-fed, and cry for more than 3 hours a day more than 3 days a week. Periods of crying with colic typically increase in the late afternoon or early evening hours. Known causes of pain must be excluded to make the diagnosis of colic, including corneal abrasion, hair tourniquet wrapped around a digit, and inguinal hernia that may be intermittently incarcerated. Infants who have concurrent failure to thrive must be evaluated for other etiologic factors.
11. The answer is D [IV.H]. Breath-holding spells are common, occurring in as many as 5% of children. These spells generally begin in children at 6–18 months of age and may continue up until 5 years of age. They are harmless and involuntary in nature. Even if they produce a loss of consciousness, which may occur in some children, learning problems or other long-term sequelae do not result. Spells that are associated with exercise or physical activity should be evaluated with an electrocardiogram to look for an underlying dysrhythmia.
12. The answer is B [I.C]. Knowing that this child is still in the sensorimotor stage places his age at less than 2 years. This child is old enough to start using tools for their function, which would not be seen in a typical infant who is 6–9 months of age. He is not using symbolic play, which begins at about 24–30 months of age. He is beginning to process the concept of cause and effect; infants usually start looking over the high chair for dropped objects at about
9 months of age. This developmental clue places him at the early stage of functional play, making an age of 10–14 months more likely than ages older than 15 months.
13. The answers are D [I.C.3.c; Tables 2-3 and 2-4] and B [Tables 2-2, 2-3, and 2-4], respectively. Infants develop “object permanence,” an understanding that objects continue to exist even when the infant cannot see them, at about 9 months of age. Infants usually begin saying mama and dada between 9 and 12 months of age and usually have between one and three additional words in their vocabulary by 12 months of age (1 year). Separation anxiety may develop anytime between 6 and 18 months of age when a loved one leaves the infant’s vision. An immature pincer, or the ability to hold a small object between the thumb and the index finger, usually develops about 9 months of age. Based on the choices provided, this infant in question

13 is most likely to be 10 months of age.
14. Infants are able to transfer objects and to sit alone at about 6 months of age. In addition, a 6- month-old infant would be expected to mix vowel and consonant sounds but will not begin saying mama or dada until 9–12 months of age. The parachute reaction is one of the postural reactions that help facilitate the orientation of the body in space and usually develops at approximately 8 months of age. Based on the choices provided, the infant in question 14 is most likely 6 months of age.