Trastornos del Neurodesarrollo y del la infancia Flashcards
2.1.
The parents of an 8-year-old girl meet with their daughter’s
teacher due to concerns that the child is not keeping up with
her peers in school. Her teacher says that the child is reading
below the kindergarten level, and cannot perform basic
addition. The parents add that their daughter did not start
talking until age 2. All are concerned that the child may be
intellectually disabled. Cognitive testing by the school
psychologist reveals an IQ of 64. The child’s hearing and vision
are normal, and there are no known medical illnesses. What
further history must be elicited before the diagnosis is made?
A. Her exposure to language prior to starting school
B. The extent of her social functioning
C. The progression of her motor milestones
D. The source of the family’s drinking water
E. The age of the parents’ home
2.1. B. The extent of her social functioning
In addition to cognitive testing, which provides an IQ score, a
diagnosis of intellectual disability requires an assessment of adaptive
functioning, which includes social functioning and performance of
everyday tasks. The psychological testing should include a
standardized measure of adaptive functioning. As the concern is
whether or not the child has an intellectual disability, the etiology,
such as from chronic exposure to leaded paint in an old home, or low
exposure to language, would not alter the diagnosis, though it could
alter the prognosis. A child can have an intellectual disability with or
without difficulty with physical milestones.
2.2.
The majority of individuals with a diagnosis of intellectual
disability have an IQ in what range?
A. <20
B. 20 to 34
C. 35 to 49
D. 50 to 69
E. 70 to 80
2.2. D. 50 to 69
Approximately 85% of individuals with intellectual disability are in
the mild range, with an IQ between 50 and 69, and mild deficits in
social and communication skills. About 10% are in the moderate
range, with an IQ between 35 and 49. About 4% are in the severe
range, with an IQ between 20 and 34, and about 1% fall in the
profound range, with an IQ less than 20. An IQ between 70 and 80
was called borderline intellectual functioning in the DSM-IV. This is
now no longer a diagnosis in the DSM-V-TR
2.3.
A 7-year-old child with autism spectrum disorder and
intellectual disability presents to the outpatient clinic with his
parents, who report that their son has become increasingly
aggressive over the last 6 months. They state that when an
unexpected change in routine occurs, such as having to take a
different route home due to traffic, he starts to bite himself and
sometimes attacks them. The mother reports that he once tried
to grab the wheel of the car while they were driving. Behavioral
interventions have been minimally effective. What medication
has the most evidence for short-term management of the
child’s behaviors?
A. Gabapentin
B. Risperidone
C. Melatonin
D. Haloperidol
E. Olanzapine
2.3. B. Risperidone
Antipsychotics, particularly risperidone and aripiprazole, have
shown effectiveness in the reduction of aggressive and self-injurious
behaviors and explosive rage. Though the antipsychotics haloperidol
and olanzapine could theoretically be effective, they have not been as
studied for this indication in children as risperidone and
aripiprazole. Melatonin is often used in children with autism
spectrum disorder to help regulate sleep, but has no evidence for
helping with aggression. Anticonvulsants do not have conclusive data
for aggression.
2.4.
Which of the following cerebral abnormalities would most
likely be found following the death of a 50-year-old individual
with Down syndrome?
A. Arteriovenous malformations
B. Senile plaques
C. Enlarged ventricles
D. Decreased pigmentation in the substantia nigra
E. Optic gliomas
2.4. B. Senile plaques
Individuals with Down syndrome who are over age 40 have a high
incidence of neurofibrillary tangles and senile plaques, which
correlates with a decline in memory, self-care skills, and language,
similar to that seen in individuals with Alzheimer dementia. There
are anecdotal reports of arteriovenous malformations in individuals
with Down syndrome, but this is not common. Decreased
pigmentation of the substantia nigra is associated with Rett
syndrome. Ventriculomegaly has been shown in some Down
syndrome mice, but is not common in humans. Optic gliomas are
seen in neurofibromatosis.
2.5.
The parents of an 18-month-old boy present to an outpatient
clinic with concerns for their child’s repeated seizures. They
state that he usually comes out of them after a few seconds, but
they are becoming more frequent. They report that he is often
irritable, which they attribute to him not being able to
communicate, as he has no language skills. The child was born
at home, and there was no prenatal or follow-up care. Physical
examination is challenging because he has difficulty remaining
still, but reveals a fair-skinned child with eczema and a
prominent musty odor on his breath. Motor development is at
the level of a 6 month old. What is the most likely diagnosis?
A. Fragile X syndrome
B. Rett syndrome
C. Childhood disintegrative disorder
D. Phenylketonuria (PKU)
E. Adrenoleukodystrophy
2.5. D. Phenylketonuria (PKU)
This child’s presentation is classic for PKU, which presents with
severe intellectual disability if not diagnosed in the first few months
of life. The musty breath is caused by a buildup of phenylketones in
the body. Eczema is often present. Pale skin is due to phenylalanine
not being converted into melanin. Neurologic problems can include
seizures. Treatment consists of a low-phenylalanine diet. Though
fragile X, Rett, autism spectrum disorder, and adrenoleukodystrophy
all are causes of intellectual disability, their presentations are
markedly different from PKU. Persons with fragile X have relatively
strong communication skills. Rett overwhelmingly affects females,
and presents with a decrease in communication skills around 12
months, as opposed to failure to develop those skills.
Adrenoleukodystrophy symptoms begin around 5 to 8 years old, and
intellectual disability is mild. The intellectual deficits of childhood
disintegrative disorder begin around 3 to 4 years of age after normal
intellectual development.
2.6.
The most common inherited cause of intellectual disability
involves what genetic abnormality?
A. A mutation of the FMR1 gene
B. A deletion in chromosome 5
C. A deletion in chromosome 15
D. The presence of the NF2 gene
E. A nondisjunction of chromosome 21
A mutation of the FMR1 gene is the cause of fragile X syndrome,
which is inherited from the mother, as opposed to Down syndrome,
which is not inherited and usually caused by a nondisjunction during
meiosis. A deletion in chromosome 5 is the cause of Cri-du-chat
syndrome, and a deletion in chromosome 15 is the cause of Prader–
Willi syndrome. The presence of the NF2 gene on chromosome 22
leads to neurofibromatosis type 2. A nondisjunction of chromosome
21 leads to one of the chromosomal aberrations in Down syndrome.
2.7.
An 18-month-old boy is brought to the primary care clinic
because he is not yet able to say “mama” or “dada” clearly and
communicates mostly through grunts and whines. He is
responsive to the presence of his parents and others and will
cry if they leave the room. He cannot follow simple commands.
When his name is called, he sometimes turns his head toward
the caller. He has met his motor milestones. The mother
received adequate prenatal care, and the child had no known
illnesses. What should be the first step in the workup of this
child?
A. Chromosome analysis
B. Neuropsychological testing
C. Head imaging
D. Hearing test
E. Speech evaluation
2.7. D. Hearing test
Though the child appears to have a mixed receptive and expressive
language disorder, an audiogram must be done first to rule out a
hearing impairment, as deafness or hard of hearing can account for
the child’s presentation. Once that step has been completed, further
laboratory and imaging procedures may be warranted based on
history and observation of the child.
2.8.
A 6-year-old boy has difficulty pronouncing certain sounds,
most notably the letter
r
. He says “meah-wuh” instead of
“mirror,” and “bwake” instead of “break.” His pronunciations
are not common in the cultural dialect. He has no difficulty
with other phonemes, and shows no motor, social, or
intellectual delays. He makes As and Bs in his first-grade class.
What is the most appropriate intervention for this child?
A. Observation only
B. Initiate speech therapy
C. Obtain hearing testing
D. Obtain IQ testing
E. Obtain neurologic testing
2.8. A. Observation only
The child has speech sound disorder, which he will likely naturally
outgrow in a year or two. If the
phonologic difficulty continues past
that time, he should start speech therapy. Given that he is showing
no other speech difficulties, an audiogram or neurologic testing is
not needed at this time. He is showing no signs of intellectual delay,
so an IQ test is not needed.
2.9.
A child with autism spectrum disorder would most likely have
difficulty with what domain of language?
A. Phonology
B. Grammar
C. Semantics
D. Pragmatics
2.9. D. Pragmatics
Autism spectrum disorder, by definition, includes social
communication deficits. Pragmatics involves the skill of using
language, including discerning intent behind words and
understanding the context of what is being expressed. Phonology is
the ability to produce sounds to make words. Deficits in this domain
are seen in language disorders such as expressive (such as speech
sound disorder) or mixed expressive–receptive language disorders.
Grammar refers to the organization and rules of word placement to
form language. Semantics involves the acquisition of words and the
meaning of words or sentences.
2.10.
Parents bring their 6-year-old son to the primary care clinic
due to concerns that “he doesn’t show any affection towards
us. He barely even looks at us when we talk to him, and
sometimes will not speak back when spoken to.” They state
that he does not play cooperatively with children his age, and
though he may be physically next to other children, he will
play by himself with the same toy truck. “He doesn’t use it as a
truck, he just holds it up and spins the wheels over and over.
He would do that all day if you let him.” They add that he often
suddenly flaps his hands with no provocation. They report that
he was evaluated by the school psychologist and found to have
an IQ of 85. Though his verbal abilities were tested as normal,
they lagged behind other cognitive domains. The child has no
known medical illnesses and is on no medications. What is the
most likely diagnosis?
A. Mild intellectual disability
B. Social communication disorder
C. Hearing difficulty
D. Autism spectrum disorder (ASD)
E. Stereotypic movement disorder
2.10. D. Autism spectrum disorder (ASD)
The confluence of symptoms is most consistent with ASD. About
30% of children with ASD are intellectually disabled, so this is not a
necessary feature of the diagnosis. An IQ of 85 is not in the range of
mild intellectual disability. Though he has difficulty with social
communication, it is in the context of other symptoms of ASD such
as repetitive movements and restricted interests. Given that his
verbal abilities are normal, it is unlikely that he has a hearing deficit.
He demonstrates stereotypic movements, but similar to the social
communication deficits, this is in the context of ASD, so that is the
most likely diagnosis.
2.11.
A 9-year-old girl is brought to the outpatient clinic by her
father, who reports that her grades in school consist of Cs and
Ds because she forgets to turn in her homework and makes
careless mistakes on her class assignments. Notes from her
teacher say that she is disorganized, as evidenced by her messy
desk and bookbag, and that she often loses or forgets to bring
her notebook and writing utensils. The teacher has moved her
to the front of the classroom in an effort to keep her from
being distracted by the other children, but this has not been
successful. Her father reports that the symptoms were present
during the last school year, but that they have gotten worse.
There is no history of medical illness and she takes no
medications. What is the first-line treatment for this child’s
condition?
A. Behavioral modification
B. Parent management training
C. Stimulant medication
D. Anticonvulsant medication
E. Alpha-agonist medication
2.11. C. Stimulant medication
The child is exhibiting symptoms of attention-deficit hyperactivity
disorder (ADHD), inattentive type, for which stimulant medication is
the first-line treatment. Nonstimulant medications, such as
atomoxetine or alpha-agonists, are considered second or third line. If
she were to show features of absence seizures, then a neurologic
referral, and possibly an anticonvulsant, would be warranted.
Behavior modification and parent management training can be
helpful psychosocial treatment adjuncts to medication.
2.12.
What treatment is considered first-line therapy for attentiondeficit
hyperactivity disorder (ADHD) in adults?
A. Stimulant medication
B. Atomoxetine
C. Alpha-agonist medication
D. Bupropion
E. Modafinil
2.12. A. Stimulant medication
Similar to pharmacological treatment of ADHD in children,
stimulant medications, particularly long-acting preparations, are
first line. Modafinil has scant evidence for treatment efficacy in
adults and no FDA approval for ADHD.
2.13.
A 10-year-old boy is referred by his teacher to the school
psychologist due to poor reading and spelling abilities. The
child says that the letters in words appear “jumbled up” on
paper, and that he has difficulty distinguishing between some
letters such as
b
and
d
. He has started to become frustrated
when asked to read out loud in class, and once yelled at the
teacher when she called on him to read. His latest report card
consists of an “A” in math, art, and music, and a “B” in
geography. What evaluation is necessary to make the
diagnosis?
A. IQ testing
B. Standardized reading testing
C. Observation of the child in the classroom
D. Adaptive functioning testing
E. Continuous performance testing
2.13. B. Standardized reading testing
IQ testing is helpful in that it allows for comparison of the child’s
specific deficits to their overall cognitive performance. However, for
all specific learning disorders, standardized testing in that cognitive
domain (also known as achievement testing) must be obtained. For
specific learning disorder with impairment in reading, that would
include spelling, writing, language, and design copying assessments.
Observation of the child could be helpful to assist with student and
teacher strategies to help him become less frustrated with reading.
Adaptive function testing is used to assess social and life-skills
functioning, and is necessary for the diagnosis of intellectual
disability. Continuous performance testing is used to track progress
with treatment for attention-deficit hyperactivity disorder (ADHD).
2.14.
An 8-year-old girl is brought to the outpatient clinic for an
evaluation of tics. Her parents state the tics began 3 years ago,
and that they were hoping that she would just “grow out of
them.” They report that the tics began with eye blinking and
winking and have since progressed to fist clenching. One year
ago, she started clearing her throat. The child states that she
has gotten used to the eye movements and that they no longer
bother her. She adds that she used to bother the other kids in
her class with the throat clearing, but that she can now “hold it
in until I get home,” at which time she clears her throat for
several minutes. She makes grades of As and Bs, and has
several friends who sometimes sleep over on the weekends.
What is the treatment for this child?
A. Risperidone therapy
B. Habit reversal training
C. Aripiprazole therapy
D. Parental psychoeducation
E. Cognitive behavioral therapy
2.14. D. Parental psychoeducation
This child’s presentation and time course of tics are consistent with a
diagnosis of Tourette syndrome. Because the child does not appear
bothered by the motor and vocal tics, and social and school
functioning do not appear to be impaired, treatment is not necessary.
Instead, the parents should be given information about Tourette,
including the most likely course of the disorder and when treatment
should begin. If the tics were of moderate severity, behavioral
interventions such as habit reversal training would be indicated. If
they were severe and causing disruptions in school and social
functioning, medication, such as risperidone, which is considered
first-line pharmacologic treatment due to evidence and efficacy, may
be warranted. Cognitive behavioral therapy has not been shown to
reduce tics without some other concurrent intervention.
2.15.
Parents bring their 3-month-old daughter to the pediatrician
because of poor weight gain since birth. This is their first child.
They state that she does not seem to be interested in feeding,
despite attempting both breast milk and bottle formula. The
mother reports that the child is irritable when they try to feed
her, and that the child often pushes away, but will sometimes
take formula. The mother adds that she feels guilty because
her daughter’s lack of engagement is starting to make her feel
like she wants to be less engaged in her daughter’s care. There
were no complications during the pregnancy or delivery, and
the child came home from the hospital the day after birth. At 1
month old, she was 40th percentile for length and weight. She
is currently 35th percentile for weight and 40th percentile for
length. Physical examination reveals a healthy infant in no
acute distress. She responds appropriately to both parents.
What is the most appropriate next step in management?
A. Contact child protective services
B. Admit the child to the hospital
C. Order a swallowing study
D. Refer the family to a psychiatrist
E. Arrange for a home health nurse to help with feeding
2.15. C. Order a swallowing study
The child is displaying signs of avoidant/restrictive food intake
disorder (ARFID), which consists of a lack of interest in and/or
avoidance of food. Signs include failure to gain weight as expected,
food refusal, and eating too little. Because infants with ARFID
become irritable or withdrawn when feeding, mothers may
subsequently not engage as much during feeding as they would
otherwise. This child is starting to fall off of her growth curve, but
not drastically, so hospitalization is not warranted at
this time. There
are no signs of abuse or neglect, so child protective services does not
need to be involved. One of the first steps in the workup is to rule out
medical causes, so a swallowing study should be ordered to make
sure there is not a structural etiology. Though referral to a
psychiatrist or a home health nurse may eventually become part of
the treatment plan, a medical cause should still first be ruled out.
