QOD Development
During the health supervision visit for an 18month-old boy, his parents express concern that
he is vocalizing but not saying any real words.
He is holding a small piece of string that he
moves back and forth repeatedly. When you call
his name, he does not respond. You point to the
light in the room and say "look," but he continues
to look at the string with a sideways glance. You
try to get him to look at you, but he avoids eye
contact.
Of the following, the MOST likely diagnosis
for this boy is
1.
2.
3.
4.
5.
Asperger disorder
autistic disorder
expressive/receptive language disorder
obsessive-compulsive disorder
Rett syndrome
Question 1 Answer B
The child described in the vignette shows clinical features of an autistic disorder, a heterogeneous neurodevelopmental
disorder (see Table 1 at http://pediatrics.aappublications.org/cgi/content/full/120/5/1183 for complete diagnostic
criteria). Affected individuals have impairments in three specific areas: reciprocal social interactions, verbal and
nonverbal communication, and range of activities or interests. The clinical presentation is specific to the child, with
differing degrees of impairment in each of the three core symptom areas.
The hallmark of autism is abnormal social interactions. Children lack the ability to share interests with others (joint
attention skills) using verbal or nonverbal communication. They commonly show weakness in eye contact. Their
interaction may range from aloofness and an unawareness of other people to having varied or odd interaction with
others. Language development commonly is delayed, and children may have immediate or delayed echolalia,
unusual intonation, and repetitive speech. Children who have autism may engage in repetitive play and show little
imaginative play. They may focus on sensory aspects of objects or develop obsessions about unusual objects
(stop signs, elevators). They often have difficulty handling transitions and may engage in repetitive hand or body
movements. Many affected children have cognitive impairment. Children who have subthreshold clinical features
(some but not all of the features) may receive the diagnosis of pervasive development disorder-not otherwise
specified within the autism spectrum.
Red flags of development that warrant further evaluation for possible autism include:
No babbling by 9 months
No gesturing by 12 months
No single words by 16 months
No functional nonecholalic 2-word phrases by 24 months
Any loss of language or social skills at any age
Neither a diagnosis of expressive language disorder nor obsessive-compulsive disorder would account for the
impaired social engagement exhibited by the boy in the vignette. Individuals who have Asperger syndrome
(Asperger disorder in DSM-IV TR) have impairments in social interaction and restricted interests and activities, but
they have relatively preserved cognitive and language functioning, in contrast to the delays in developing language
reported for the child in the vignette. Rett syndrome almost exclusively affects females and presents with a slowing
of motor development between 6 and 18 months of age. Between ages 1 and 4 years, the child exhibits a decline
in social interactions, cognitive abilities, purposeful hand movements, and speech.
American Board of Pediatrics Content Specification:
Know the clinical features of autism spectrum disorder
During the health supervision visit for a 4-year-old
girl, her father reports that she has developed a
stutter over the past 9 months. He explains that
she is a little frustrated by the difficulty in
expressing herself but otherwise seems happy
and well-adjusted. In talking with the father, you
also note that he has a mild stutter. He speaks
to the child slowly and deliberately and
encourages her to take her time when speaking
to you.
Of the following, the risk factor that MOST strongly
suggests the need for speech therapy for this girl
is the
1.
2.
3.
4.
5.
age of onset
child's reaction to stuttering
child's sex
father's stutter
time since onset
Question 2 Answer D
•
The onset of stuttering typically occurs during the period of intense speech and language
development as the child progresses from two-word utterances to the use of complex sentences,
generally between the ages of 2 and 5 years but sometimes as early as 18 months. About 5% of
all children go through a period of stuttering that lasts 6 months or more. The sex ratio for
stuttering appears to be equal at the onset of the disorder, but studies indicate that three to four
times as many boys continue to stutter. Between 75% and 80% of children who start to stutter
stop within 12 to 24 months without speech therapy. Children who begin stuttering before the age
of 3½ years and girls are more likely to outgrow stuttering. Strong evidence shows that almost all
children who stutter have a family member who stutters.
Studies have shown that individuals who stutter have a large degree of within-word dysfluencies
compared with their typical peers. Examples are: 1) repetition of individual sounds or syllables
such as "W-w-w-what is he doing?", 2) prolongation of words such as "Wwwwwwhat is he doing?,
and 3) blocks or pauses such as ". . . What is he doing?" Such dysfluencies may be associated
with eyelid closing and physical tension around the lips. The standard criteria for diagnosing a
child who has stuttering or is at risk to develop stuttering is an average of at least three withinword dysfluencies in 100 words of conversation.
Although the girl described in the vignette does not have a strong negative reaction to her speech
impediment, her father stutters, placing her at risk for problematic stuttering and indicating the
need for speech therapy. Criteria for referring children who stutter for speech therapy are
presented in (Item C107). Referral should be made for children who have severe stuttering
problems, those who have mild stuttering problems that do not improve markedly within 6 to 8
weeks, or those whose parents are very concerned. Referral also is indicated for children who
have associated behaviors (eg, head, body, or limb movement; audible breathing prior to the
disfluencies; and observable muscle tension in the orofacial region). In time, such children may
develop anxiety about stuttering that could contribute to the chronicity of the disorder.
American Board of Pediatrics Content Specification:
Know the indications for referral of a child to a speech pathologist for evaluation of stuttering
Item C107
The parents of a newborn in whom a congenital
severe-profound hearing loss has been
diagnosed are seeking guidance about how to
promote their infant's language development.
You recommend enrollment in an early
intervention program and obtaining hearing aids
when the infant is young. His parents have never
been exposed to an individual who has a
hearing loss. They ask your opinion on the best
approach for him to learn language.
Of the following, the MOST important factor in language
development of an infant or young child who has hearing
loss is the use of
1.
2.
3.
4.
5.
a high amount of verbal/nonverbal (gestures)
communication between parents and child
an oral-aural method emphasizing the teaching of
speech and the use of a child's residual hearing
hand-cued speech (using combined speech and
hand cues)
manually coded English between parents and child
the bilingual (ASL and English)-bicultural (hearing
and deaf culture) approach
Question Answer A
Multiple factors contribute to a family's decisions regarding their child who has confirmed hearing loss.
Language-based early intervention results in superior expressive and receptive communication
abilities compared with those of children identified at later stages of development. Family
involvement, including verbal and nonverbal (gestures) communication, has a more significant
positive effect on language development than any specific type of intervention.
Hand-cued speech (www.cuedspeech.org) consists of eight different handshapes (represent
consonants) and four different hand locations around the speaker's face (represent vowels).
Manually coded English employs a visual representation of the spoken English language. Signs
and finger spelling are used to represent spoken English.
The goal of the oral-aural method of communication is to develop spoken language and gain
inclusion in the mainstream both in school and society. People who employ this auditory-oral
approach use their aided residual hearing as well as reading of speech, facial expressions, and
naturally occurring gestures. Such an approach requires consistent use of hearing aids/FM
technology and provision of auditory training and speech therapy as well as lip-reading.
The bilingual-bicultural (Bi-Bi) philosophy of the National Association of the Deaf (www.nad.org)
promotes communication in two languages (visual and a form of spoken) for children who are deaf
so they can be a part of both deaf and hearing communities. The Bi-Bi approach supports early
language learning through American Sign Language (ASL) and a form of spoken English taught
as a second language later in elementary school.
Of note, children who have hearing loss of less than 90 dB usually benefit from conventional
amplification systems. For children who have severe-to-profound sensorineural hearing loss
affecting both ears, cochlear implantation may be considered. This procedure leads to the ability
to perceive sound signals. Although results are highly variable, the procedure is most successful
when undertaken early in life.
American Board of Pediatrics Content Specification
Know the major approaches to education of the deaf child
A well-nourished, healthy child comes to your office for his
2-year health supervision visit. You find that he has
failed an autism-specific screening tool (the Modified
Checklist for Autism in Toddlers) completed by his
parents while in the waiting room. Results of a previous
audiology evaluation are normal. His head circumference
and growth parameters are normal. Findings on a
general physical examination are unremarkable, and the
neurologic examination produces nonfocal findings.
Muscle mass, strength, and tone are within normal limits.
His deep tendon reflexes are physiologic and symmetric.
Of the following, the MOST appropriate next
step is
1.
2.
3.
4.
5.
early intervention referral
genetics evaluation
head MRI
metabolic evaluation
sleep-deprived EEG
Question 4 Answer A
The boy described in the vignette has failed The Modified Checklist for Autism in Toddlers (M-CHAT).
The M-CHAT is an autism-specific screening tool that has a sensitivity of 0.85 and a specificity of
0.93. The sensitivity measures the percentage of individuals correctly identified as having autism
(85%). The specificity measures the percentage of individuals who are correctly identified as not
having autism (93%). The results described for the boy in the vignette suggest that he has autism,
and the clinician should not wait to confirm the diagnosis before referring the child for early
intervention services. Such services are beneficial in addressing the child's deficits. If the
diagnosis is confirmed, the interventions may be altered to a more specific intervention for autism
spectrum disorder (ASD).
ASDs are biologically based neurodevelopmental disorders. Although genetic evaluation may be
indicated, especially when there is a family history of autism, referral for early intervention is more
likely to improve the child's prognosis than genetic evaluation. Some of the conditions that are
associated with autism include fragile X syndrome, tuberous sclerosis, fetal alcohol syndrome,
Angelman syndrome, and Rett syndrome. There are only a few reports of mitochondrial or
metabolic abnormalities being associated with ASD, and most affected children have normal
immune function. No relationship has been demonstrated between autism and the measles,
mumps, rubella vaccine or thimerosal.
There is no evidence that sleep-deprived electroencephalography and magnetic resonance
imaging for children who have ASDs is needed in the absence of specific clinical findings (eg,
seizures, hypopigmented macules). Because metabolic abnormalities rarely are associated with
autism, metabolic evaluation also is not warranted.
American Board of Pediatrics Content Specification:
Know the medical causes of autism spectrum disorder
A baby girl for whom you provide care has been
referred on her newborn hearing screen.
Physical examination results are within normal
limits. When she is referred on a follow-up
hearing screen at 2 weeks of age, you
recommend auditory brainstem response
testing, which subsequently reveals absent
hearing in both ears. A careful family history is
negative for any individuals who have deafness.
The parents ask you what could have caused
deafness in their baby.
Of the following, the likelihood that this infant has a
genetic cause for deafness is CLOSEST to
1.
2.
3.
4.
5.
<1%
5%
25%
50%
75%
Question 5 Answer D
The incidence of prelingual, moderate-to-profound sensorineural hearing loss (=40 dB) is 1 in 500 in developed
countries, making it the most common birth defect in these regions. Approximately 1 in 1,000 newborns is deaf
(hearing loss in the severe-to-profound range of 71 to 90 dB).
Fifty percent of all prelingual, moderate-to-profound hearing loss is genetic, 25% is nongenetic (eg, having
bacterial and viral causes), and 25% is idiopathic (Item C183). Of the genetic forms of deafness, 30% are
syndromic, and 70% are nonsyndromic. Syndromic causes of deafness include conditions such as Usher,
Waardenburg, and Treacher-Collins syndromes. Nonsyndromic causes can be autosomal recessive (75% to
85%), autosomal dominant (15 % to 24%), and X-linked (1% to 2%).
A critical aspect of the evaluation of any child who has prelingual hearing loss is defining the type of loss as clearly
as possible. Careful audiologic evaluation should be undertaken in concert with examination by an
otolaryngologist. Affected individuals should undergo computed tomography scan of the temporal bones to look for
malformations of the inner ear. The information gleaned from these studies helps to guide the evaluation because
different gene mutations are associated with different clinical manifestations. It is important to obtain a careful,
three-generation pedigree, with attention to any individuals who have hearing loss, vision loss, dysmorphic
features, early death, birth defects, and intellectual disabilities. Referral to a geneticist is important to determine if
there is a recognizable pattern of features or any genetic testing that could be helpful.
The gene loci for nonsyndromic deafness are designated "DFN" (for DeaFNess). The loci are categorized as
DFNA (autosomal dominant), DFNB (autosomal recessive), and DFN (X-linked). Some genes can be involved in
both dominant and recessive forms of deafness, depending on the specific mutation(s), and some mutations
cause both sensorineural and conductive hearing loss. Although there are exceptions, most autosomal dominant
loci cause postlingual hearing impairment, and most autosomal recessive loci cause severe-to-profound prelingual
deafness. X-linked (DFN) loci are associated with both pre- and postlingual hearing loss.
Because the many molecular genetic testing options can be somewhat confusing, consultation with a clinical
geneticist is strongly recommended. Numerous laboratories offer panels of common mutations. In many
populations worldwide, approximately 50% of individuals who have prelingual, autosomal recessive nonsyndromic
hearing loss have GJB2 mutations; the remainder may have a mutation in any number of genes that may have
been described as causing deafness in only one or two families.
American Board of Pediatrics Content Specification:
Know the common causes of congenital deafness
Item C183
• A 9-year-old boy comes to your office for a
health supervision visit. He has difficulty seeing
large print and recently began learning Braille in
school. As an infant, he had severe retinopathy
of prematurity, and he has had long-standing
difficulty seeing, even with corrective lenses. His
parents have been told that their son is
considered legally blind. They ask what this
designation means.
Of the following, the BEST response is that legal
blindness means
1.
2.
3.
4.
5.
ability to detect only the direction of a light source
corrected vision of 20/70 or worse in the best eye
corrected vision of 20/200 or worse in the best eye
no residual visual function in either eye
uncorrected vision of 20/100 or worse in the best eye
Answer C
•
The child described in the vignette is legally blind, defined as a corrected vision of
20/200 or worse in the best eye. Approximately 75% of legally blind individuals have
some residual visual ability. Students may be classified as educationally visually
impaired if their corrected vision is 20/70 or worse in the best eye.
Children who have visual impairment need to learn in specialized environments to
motivate them to move and improve their abilities to interpret sensory information
accurately. Young infants should be encouraged to be mobile and orient themselves
to the environment using touch, smell, and auditory input. Beginning in preschool, the
goal is to teach skills that promote independence in the performance of daily
activities. Depending on the degree of any associated impairments, the child may
attend a regular school program with input from a teacher of the visually
handicapped. The educational program should emphasize sensory experiences and
auditory programs. The school-age child should have an Individualized Educational
Plan. Again, depending on any associated impairments, the child may participate in
regular community-based classroom activities, focusing on reading, writing, travel
needs, and eventually vocational training and independent living. Braille is used for
nonvisual communication and audio recordings supplement reading.
American Board of Pediatrics Content Specification(s): Know the major
approaches to the education of visually impaired children
• A 2-year-old boy is mildly delayed in reaching
his gross motor milestones, but his language
development is appropriate for his age. He can
speak in three- to four-word sentences. His
parents are concerned that he will have
academic difficulties due to his motor
deficiencies. His neurologic examination yields
nonfocal results.
Of the following, the MOST appropriate response
is that
1.
2.
3.
4.
5.
gross motor development is an accurate
predictor for school success
his delays are associated with learning
disabilities
his delays will result in poor handwriting skills
his mildly delayed gross motor skills suggest a
diagnosis of cerebral palsy
language development is an accurate predictor
of intellectual function
Answer E
•
A child's language development in infancy and early childhood correlates closely with
cognitive development and, thus, is a better predictor of cognitive function than gross
motor development. The acquisition and use of language is critical to a child's
development in the areas of cognitive and social development. Phonemic awareness
is the ability to attend to phonemes (speech sounds) that are used in syllables and
words and is a critical language skill in the development of reading.
The delay in achieving gross motor milestones described for the boy in the vignette
has the weakest correlation with general intellectual functioning and, therefore, is not
a strong predictor of school success. He has mildly delayed gross motor skills and a
nonfocal neurologic examination. As a result, he does not meet the criteria for a
diagnosis of cerebral palsy. Handwriting skills are affected by weakness in fine (not
gross) motor development.
American Board of Pediatrics Content Specification(s): Understand that
language development in infancy and early childhood is a better predictor of cognitive
function than motor development
• Results of a cognitive test given to a 7-year-old
girl indicate functioning in the moderate
intellectual disabilities range (intelligence
quotient between 40 and 50). Her parents ask
what the future holds for their child academically
and vocationally.
Of the following, the MOST likely expectation is
that the child
1.
2.
3.
4.
5.
can achieve a third- to sixth-grade reading level by
adolescence
can be employed in a competitive unskilled or
semiskilled job
can work in a sheltered workshop that provides
close supervision
will only be able to learn to read simple signs such
as stop and exit
will require help with activities of daily living from
caregivers when an adult
Answer C
•
The American Association on Intellectual and Developmental Disabilities (AAIDD)
defines intellectual disability (ID) as a disability "characterized by significant
limitations both in intellectual function and in adaptive behavior as expressed in
conceptual, social, and practical adaptive skill. This disability originates before the
age of 18."
Children who have mild ID (IQ, 50-55 to 70) and no comorbid disorders are selfsufficient in activities of daily living (ADL) and communication. They can be expected
to learn at one half to two thirds normal velocity. They can reach a third- to sixthgrade reading level by late adolescence and can be expected to be employed in
competitive unskilled, semiskilled, or in some cases, skilled jobs. The prevalence rate
of mild ID is 20 to 30 per 1,000, and affected children often are identified in
kindergarten and early elementary school.
Individuals who have moderate ID (IQ, 35-40 to 50-55), such as the girl described in
the vignette, are able to do ADL and express basic needs. They learn at one third to
one half velocity. They can be expected to achieve a first- to third-grade reading
level. They may be able to function in a supportive employment setting, but more
often they work in sheltered workshops that provide constant supervision. In
adulthood, they often live in group homes. The prevalence rate of moderate ID is 5
per 1,000, and the condition most often is identified in preschool.
•
Children who have severe ID (IQ, 20-25 to 35-40) have limited language skills and
need support with ADL. They might be able to learn to read simple signs such as stop
and exit. They will continue to need help with ADL from caregivers as adults. The
prevalence rate of severe ID is 3 per 1,000, and affected children are identified before
age 3 years. These individuals often have identified genetic, medical, and neurologic
causes.
Children who have profound ID (IQ, <20-25) require assistance for ADL. They have
the highest rates of identified genetic, medical, and neurologic causes. The
prevalence rate of profound ID is 1 to 2 per 1,000, and affected children are identified
prior to age 2 years.
American Board of Pediatrics Content Specification(s): Distinguish between mild
and moderate intellectual disabilities with regard to the potential for educational and
independence/vocational achievement
During a health supervision visit, a mother reports that her
child is only understood about 75% of the time when she
speaks to other adults.
Of the following, this finding is MOST expected for a typically
developing child who is
1.
2.
3.
4.
5.
18 months old
24 months old
30 months old
36 months old
48 months old
Answer D
•
A helpful rule regarding the development of articulation is the Rule of Fourths. The
average 2-year-old child should be understood by strangers half the time (2/4), the
average 3-year-old child should be understood ¾ of the time, and the average 4year-old should be understood all the time (4/4). The girl in the vignette is described
as being understood by a stranger 75% of the time, which is typical for a child of 3
years.
Children may have difficulty with the pronunciation of certain sounds until they are 7
years of age, but 100% of speech should be understood by age 4 years. In normal
speech development, the first eight consonant sounds that develop are m, b, y, n, w,
d, p, and h. The last eight consonants are sh, th (as in thirty), s, z, th (as in the), zh
sound typically spelled as s (as in pleasure), l, and r, which develop by age 7.
American Board of Pediatrics Content Specification(s): Know the progression of
speech intelligibility and that deviation from the progression is abnormal (eg, 0% of
intelligibility to strangers is 2/4 at 2 years, ¾ at 3 years, 4/4 at 4 years)
•
• A 7-year-old boy has mild intellectual impairment and an
autism spectrum disorder. He has a pleasant disposition
and no aggressive behaviors, but he has trouble paying
attention in the classroom and difficulty staying in his
seat. Both teacher report and parent rating forms
document highly significant hyperactivity and difficulty
paying attention. His parents are concerned that his
activity level is affecting his ability to learn. They ask if
any medication can help him attain school success.
Of the following, the MOST appropriate response
is to
1.
2.
3.
4.
5.
begin an atypical antipsychotic
begin a trial of a serotonin reuptake inhibitor
begin a trial of stimulant medication
explain that medication would be ineffective due
to his intellectual disability
reassure the family that he is doing his best and
have them return in 6 months
Answer C
•
The child described in the vignette has an autism spectrum disorder, symptoms of
hyperactivity, and a short attention span. According to his teacher and parents, these
symptoms are affecting his ability to learn at school. Therefore, a trial of a stimulant
medication is indicated to target the symptoms. Stimulants can be effective, even in
individuals who have intellectual disabilities. In 2005, the Research Units on Pediatric
Psychopharmacology Autism Network studied methylphenidate in the treatment of
children who had autism spectrum disorders. The results indicated drug efficacy, but
with reduced effectiveness and a less satisfactory adverse effect profile. The most
reported adverse effect was decreased appetite.
The boy is having significant difficulty, and simply reassuring the family will not help
his functioning at school. An atypical antipsychotic is not indicated in this situation
because the child is not exhibiting aggressive or self-injurious behaviors, irritability, or
explosive outbursts. Serotonin reuptake inhibitors are indicated for the treatment of
obsessive-compulsive behaviors, anxiety, or symptoms of low mood, symptoms not
exhibited by the boy in the vignette.
American Board of Pediatrics Content Specification(s): Understand that children
with intellectual disabilities and/or autism spectrum disorder who have symptoms of
hyperactivity and short attention span may respond to medication
• A 13-year-old boy who has an autism
spectrum disorder is displaying severely
aggressive behavior to his parents and
teachers. When frustrated, he has
tantrums, and when upset, he hits himself
and throws objects. This behavior has
continued even after intensive behavioral
and educational interventions. His parents
wish to begin medication to help handle
him safely at home.
Of the following, the MOST appropriate medication
with which to begin a trial is
1.
2.
3.
4.
5.
atypical antipsychotic
lithium
melatonin
serotonin reuptake inhibitor
stimulant medication
Answer A
•
The significant behaviors exhibited by the boy described in the vignette include
explosive outbursts, aggression, and self-injurious behaviors. Behavioral and
educational approaches are the starting point for intervention. Because the child's
behavior places him at risk for harming himself or others, pharmacologic therapy
should be initiated. Medications that target irritability, aggression, explosive outbursts,
and self-injurious behaviors include atypical antipsychotics and anticonvulsant mood
stabilizers.
An atypical antipsychotic is an appropriate choice for this boy. The most common
adverse effects noted with these medications are weight gain, increase in appetite,
and fatigue. Anticonvulsant mood stabilizers also may be used to treat target
behaviors as well as bipolar symptoms and repetitive behaviors. Alpha-2 agonists
such as long-acting guanfacine may be used to target attention-deficit/hyperactivity
disorder (ADHD) symptoms, aggression, and sleep dysfunction.
Stimulant medications and selective norepinephrine reuptake inhibitors are used for
ADHD symptoms of hyperactivity, impulsivity, inattention, and distractibility. They are
not used to target primarily aggressive behaviors or self-injurious behaviors. Lithium
is used for bipolar disorder and has a low therapeutic-to-toxic ratio. Selective
serotonin reuptake inhibitors are used to treat repetitive behaviors, anxiety, and
depressive symptoms. Many selective serotonin reuptake inhibitors are used offlabel. Melatonin is a naturally occurring hormone that is not regulated by the United
States Food and Drug Administration, but it is available over the counter in the United
States. Several studies have indicated its usefulness in promoting sleep but not for
aggression or self-injurious behaviors.
American Board of Pediatrics Content Specification(s): Know the role of
medications in the autism spectrum disorders
• You are seeing a 3-year-old boy for a health supervision
visit. He has a vocabulary of 50 words that he says
clearly, and he is just beginning to combine words. He
follows simple two-step commands. Past medical history
reveals that he was born at term and had no perinatal
problems. He has no history of recurrent ear infections
and achieved gross motor milestones at appropriate
ages. He resides in a bilingual household. According to
the family history, his father also experienced delayed
speech development. His older brother received speech
therapy in elementary school, and his older sister had
difficulty with reading comprehension but does well in
math.
Of the following, the MOST likely cause of
this boy's language delay is
1.
2.
3.
4.
5.
a bilingual household
being third born
genetic predisposition
hearing loss
his sex
Answer C
•
The most likely cause for the delay in language development described for the boy in
the vignette is genetic, based on the strong family history of language delays and
reading difficulty. Children who have specific language impairment or a reading
disorder often have family histories that suggest a genetic basis for the problems.
The rate of reading disorder in parents of affected children ranges from 25% to 60%.
A child who has a family history of both protracted language problems and learning
issues has greater risk for language-based learning difficulties.
A language delay of greater than 25% (calculated as a language level of below 27
months in a 36-month-old child) should be evaluated and not disregarded because
the child is a boy, second or third born in a family, or part of a household in which
more than one language is spoken. Language development in boys averages only a
1- to 2-month lag behind girls. Current research suggests that monolingual and
bilingual children meet major language developmental milestones at similar times. A
child raised in a bilingual home may use the two languages during a conversation,
which has been found to be a sign of mastery of both languages. The child's total
vocabulary size and length of utterance (number of words in a sentence) should be
normal by age 2 to 3 years.
•
•
Other causes of delayed language development include genetic and chromosomal
disorders as well as neurologic disorders such as cerebral palsy. An autism spectrum
disorder should be suspected when language is both deviant and delayed. Global
developmental delay may be suspected if delays in motor or cognitive development
also are apparent. Universal screening of newborns detects most infants who have
moderate, severe, or profound sensorineural hearing loss, although such screening
may miss individuals who have mild-to-moderate, progressive, or acquired hearing
loss. Hearing loss is a particular concern if the child has difficulty saying or hearing
the sounds s, th, and f (high-frequency sounds).
American Board of Pediatrics Content Specification(s): Know the causes of
delayed language development
Understand the importance of family history in the diagnosis of language disorders
• An 8-year-old boy has an above-average
intelligence quotient, but he is struggling in
school and consistently brings home failing
grades. He is generally well behaved, but he
gets angry with the poor grades. He enjoys
being with his friends and is active in afterschool activities.
Of the following, the MOST appropriate
intervention is to
1.
2.
3.
4.
5.
have the parents set up a behavioral chart to
encourage him to improve his grades
reassure the parents that he is smart and schedule a
follow-up appointment in 6 months
refer him for psychoeducational evaluation
refer him to a psychiatrist
tell the parents to punish him if he continues to fail
Answer C
•
The boy described in the vignette has above-average intelligence but is having
academic difficulties, warranting psychoeducational evaluation for a learning
disability. The reported prevalence of dyslexia (specific reading disability) ranges from
5% to 17% in the general population. The rate of dyscalculia (specific learning
disability in mathematics) is 4% to 6%. Individuals may have learning difficulties that
occur independent of intelligence. Frequently, individuals who have high intelligence
are not identified as having a learning issue or are considered to lack motivation.
Such children who have above-average intelligence may have uneven profiles when
evaluating their cognitive, social, and emotional development.
The boy in the vignette should not be expected to improve spontaneously. The
academic difficulty is not within his control and would not be remediated via discipline
or use of a behavior chart. He is not showing evidence of a primary mood disorder for
which a referral to a psychiatrist would be indicated. Additional causes of school
failure are attention-deficit/hyperactivity disorder, sensory deficits (eg, diminished
visual or auditory acuity), disordered sleep, or epilepsy. An older child should be
evaluated for use of illicit drugs or alcohol.
American Board of Pediatrics Content Specification(s): Recognize that children
with above average intelligence may have academic failure and learning disabilities
• A mother is concerned that her 6-year-old boy
has been struggling to learn his alphabet and
numbers in kindergarten. He is in good health,
and results of his vision and hearing screens are
normal. His preschool teacher commented last
year that he was a bit shy but enjoyed being with
the other children.
Of the following, the MOST appropriate next
step is to
1.
2.
3.
4.
5.
evaluate the boy for attention-deficit/hyperactivity
disorder
reassure the parents and schedule a 6-month
follow-up appointment
refer the boy for behavioral counseling
refer the boy for psychoeducational evaluation
refer the boy for vision therapy
Answer D
•
Approximately 5% to 17.5% of individuals in the United States have learning
disabilities (depending on the definition used). Dyslexia (reading disability) is seen in
approximately 80% of individuals who have learning disabilities. Children in preschool
may present with delays in speech and language and may have difficulty following
directions and classroom routine. The boy described in the vignette may have a
learning disability, suggested by the difficulty he is having in learning the alphabet or
numbers in kindergarten. Other indicators of learning disabilities are difficulty paying
attention, learning new skills, and connecting letters to sounds. There also may be
poor coordination, including difficulty pasting, coloring, and writing. Therefore,
reassurance of the parents is not appropriate. The boy requires a formal
psychoeducational evaluation that includes cognitive and academic assessment. The
evaluation should be performed in a timely manner so that his learning difficulty does
not lead to frustration and poor self-image. If the evaluation identifies issues with
attention or self-esteem, behavioral counseling and further assessment for attentiondeficit/hyperactivity disorder should be pursued.
Currently, no scientific evidence supports the position that subtle eye or visual
problems cause learning disabilities or that vision therapy improves academic
achievement. Other than convergence-insufficiency treatment, therapy to improve
visual function is not supported and is poorly validated. Convergence insufficiency
occurs when an individual is focusing at a near object and the eyes do not turn in
properly. Treating this disorder with eye-focusing exercise can make reading more
comfortable, but it does not improve decoding or comprehension of reading.
American Board of Pediatrics Content Specification(s): Identify the indicators of
learning difficulties (eg, preschool delay in speech and language, failure to learn
letters and numbers by the end of kindergarten, failure to learn to read simple words
by the end of first grade)
• A 10-year-old boy has been receiving
specialized educational services in school due to
a learning disability. His parents encourage
after-school or sports activities to promote
positive self-esteem. They realize that
academics are a challenge for him, and they
express concerns about his future as an adult.
Of the following, the factor that has been shown to have the
MOST positive effect on prognosis for such a child is
1.
2.
3.
4.
5.
early intervention therapy
father's level of education
having two or more siblings
high intelligence quotient
strong family support
Answer E
•
The presence of strong family support has been shown to have a positive effect on
the prognoses of children who have learning disabilities, such as the boy described in
the vignette. This effect is greater than that associated with the parent's education,
number of siblings in the family, intelligence quotient score, or early educational
intervention. Parent involvement and collaboration with physicians and schools is
critical to ensure appropriate services.
Support in the home via interactive learning activities (use of readers, audiobooks) is
especially important for children who have learning disabilities because they often are
overwhelmed, disorganized, and frustrated in learning situations. Specific academic
support such as one-on-one tutoring in the home frequently is sought to help focus on
homework. Family support can augment specialized educational intervention.
Educational strategies such as remediation work targeting the underlying cognitive
function that is impaired and phonologic programs (those that improve word
decoding) have shown efficacy up to the sixth grade. If the area of weakness is
unlikely to be corrected, circumvention strategies are useful in improving the
outcome. Such strategies include using a keyboard or verbal exams for a child who
has motor dysgraphia, using audiobooks for a child who has dyslexia, and using a
calculator for the child who has dyscalculia (math disorder).
American Board of Pediatrics Content Specification(s): Recognize factors that
affect prognosis in a learning-disabled child