Pediatric Examination and Board Review (237 page)

16.
In evaluating a child with speech and language disorders, the only test considered “a must” in the evaluation is which of the following?

(A) EEG

(B) MRI of the brain

(C) audiometry

(D) chromosome analysis

(E) serum amino acids

17.
An 18-month-old girl presents to your clinic for evaluation of language delay and poor social skills. The patient was born at full term and developed normally until a couple of months ago. Recently, she has developed frequent bouts of screaming fits. Her mother states there has been a regression in speech and language skills. She has lost the ability to use her hands purposefully. On examination, she has truncal ataxia and an apraxic gait. She has stereotyped hand movements in the form of handwringing. This patient most likely has which of the following?

(A) Angelman syndrome

(B) autism

(C) pervasive developmental delay

(D) Rett syndrome

(E) childhood disintegrative disorder

18.
A 7-year-old boy presents to your clinic for an evaluation of behavior problems. The patient gets very angry when he does not “get his way.” His mother states that her son has a hard time making friends, even though he has a strong desire to be with other children. She states that the other children often refuse to play with him because he “only wants to play by his rules.” He is not very empathetic. He has recently started collecting bottle caps. He exhibits hand-flapping behavior. His language development was normal. This patient most likely has which of the following diagnoses?

(A) autism

(B) Asperger syndrome

(C) childhood disintegrative disorder

(D) oppositional defiant disorder

(E) pervasive developmental delay

ANSWERS

1.
(E)
This child most likely has ADHD, the combined type. However, to make the diagnosis,
DSM
-
IV
criteria require that the patient have symptoms that occur in at least 2 different settings, such as home and school. Hence the diagnosis is based on information obtained from both parents and school reports. Several behavioral rating scales have been created to allow for a systematic approach to documenting the symptoms of inattention, hyperactivity, and impulsivity. Although the diagnosis of ADHD can be made based on the compilation of findings from the clinical history, school reports, and physical examination, behavior rating scales are useful adjuncts not only in the diagnosis but also in serving as baseline measures of ADHD symptoms, which can then be used to monitor therapy efficacy. Laboratory studies in the diagnosis of ADHD are typically not very helpful, and routine neuroimaging in the setting of a normal physical examination is not indicated. Laboratory studies, such as EEG or blood work looking for systemic disease (eg, thyroid function tests) should be performed only if clinically indicated. Because patients with ADHD can develop symptoms of depression and low self-esteem, it is important to monitor for these symptoms. However, in the absence of these symptoms a psychiatric evaluation is not necessary to make the diagnosis. It should be stressed, however, that clinically depressed patients can have symptoms consistent with a diagnosis of ADHD. As a result, a
DSM-IV
diagnostic criterion for ADHD is that the symptoms cannot be better accounted for by another mental disorder, such as a mood disorder. One can have devastating consequences should a diagnosis of major depression be attributed to ADHD.

2.
(B)
This child has ADHD, combined type, which is approximately 2-4 times more common in males than females. To be diagnosed with ADHD, combined type, patients must have at least 6 symptoms of inattention plus 6 or more symptoms of hyperactivity and impulsivity. The symptoms should be present for at least 6 months and present before the age of 7 years. Symptoms of inattention include difficulty paying attention, making frequent careless mistakes in schoolwork, reluctance to engage in tasks, forgetfulness, distractibility, difficulty organizing activities, inability to listen while others are speaking, and a tendency to lose objects. Symptoms of hyperactivity and impulsivity include talking excessively, difficulty playing quietly, fidgeting, abruptly leaving the classroom seat, difficulty waiting one’s turn, blurting out answers before being called on, and interrupting others during conversations or games. If patients meet criteria for only the inattentive symptoms, a diagnosis of ADHD, predominantly inattentive type is given. This type is more common in girls. If the patient only has symptoms of hyperactivity, then the diagnosis of ADHD, predominantly hyperactive-impulsive type, is given. This type of ADHD is rare. The differential diagnosis of ADHD includes disruptive behavioral disorders, such as conduct disorder and oppositional defiant disorder, mental retardation, bipolar disorder, schizophrenia, anxiety disorder, and certain drugs, such as phenobarbital in the older child.

3.
(D)
Assuming the patient’s father truly had ADHD, children born to a parent with ADHD have an almost 60% chance of developing symptoms. In addition, concordance for monozygotic twins is high. Having a sibling with ADHD imposes a 30% risk. Given the mechanism of action of the pharmacologic agents used to treat ADHD and recent research, the dopamine receptor and transporter have been implicated in the pathogenesis. However, it is likely that several genes are involved.

4.
(C)
Some symptoms of hyperactivity/impulsivity or inattention should be present before the age of 7 years.

5.
(D)
Treatment of ADHD includes nonpharmacologic and pharmacologic approaches. Nonpharmacologic approaches include educational counseling and cognitive-behavioral therapies. Educational counseling may include providing one-on-one tutoring in the classroom, minimizing distractions by rearranging the classroom seating arrangement, and teaching organizational skills. Educational counseling can be provided by a number of individuals, including pediatricians, nurses, social workers, psychologists, and mental health professionals. The counseling can occur on an individual basis or in groups. Cognitive-behavioral therapies employ techniques such as positive and negative reinforcement to modify self-control problems and encourage active participation in learning activities. Parents of a child with ADHD often experience feelings of incompetence or social isolation. Indeed, the difficulties in raising a child with ADHD can lead to problems in the marriage. As a result, parents may benefit from a consultation with a mental health professional or social worker. Some families have benefited from family therapy to assess for family dysfunction and help with behavior management. In addition, support groups are available to further assist parents.

6.
(E)
Once a decision is made to start a child on medication, follow-up is arranged to assess for patient growth (height and weight), academic progress, cardiovascular side effects, and psychological wellbeing. Studies have shown that stimulants have significant short-term benefits in most children (up to 80%) with ADHD. With dose adjustments and perhaps trials with other stimulant medications, response rates can be nearly 90%. Hence it is important to monitor the child for dose adequacy and academic progress. It may be helpful to have the parents and schoolteachers repeat behavior rating scales to quantitate improvement. Stimulant medications have side effects, most of which are transient and manageable with close monitoring. The more common side effects include anorexia, insomnia, irritability, and headaches. It is important to monitor the patient’s weight and height because stimulants can cause weight loss and reduced height velocity. Exacerbation of tics with concurrent stimulant use is observed in some children. Stimulants may cause slight elevations in heart rate and blood pressure, and, as a result, these parameters should be monitored. Finally, children with ADHD are at risk for developing psychiatric comorbidity. They can have feelings of low self-esteem and depression. In addition, approximately a third of children with ADHD experience an anxiety disorder during the course of their life. Hence it is important to monitor for psychiatric symptoms.

7.
(C)
If a child continues to have academic difficulties, despite pharmacologic and nonpharmacologic interventions, it is important to perform psychoeducational or neuropsychological testing, if not already done, to evaluate for a learning disability. The association of learning disabilities, especially reading disorders (dyslexia), and ADHD is probably quite common. Some studies have found that up to 90% of children with ADHD may also have a reading disorder. Other studies have not documented as dramatic an association.

8.
(C)
Pemoline has been associated with chemical hepatitis and, rarely, fulminant liver failure. Although the onset of hepatitis is unpredictable, many clinicians will monitor liver function at least every 6 months following baseline liver function tests before initiating the drug.

9.
(C)
Learning disorders are seen in approximately 10% of the population. Roughly half of the patients with learning disorders have a reading disorder (dyslexia). The remaining half are due to mathematics disorder, atypical learning disorders, and disorder of written expression. Most children with learning disorders are diagnosed before the second grade when it becomes clear that the child is not keeping up with peers or grades start to fall. Boys are 2-4 times as likely as girls to have a learning disorder.

10.
(D)
This patient most likely has a nonverbal learning disability (NVLD). Patients with NVLD tend to do well with rote learning. They have simple verbal skills and strengths in nonvisual memory. Weaknesses include problems with motor skills, problem solving, concept formation, and comprehension. Initially, these children tend to do well in math, given the rote nature of beginning lessons. However, as the child with NVLD progresses through school, he or she struggles with nonverbal reasoning and more advanced math concepts. Social difficulty develops as social skills depend on the child’s ability to perform nonverbal processing. Written expression and reading comprehension are often problematic. In mathematics disorder, patients have a hard time performing calculations. At times, patients with NVLD may appear to have a mathematics disorder, but the weaknesses listed often give an indication that the mathematics disability is part of the larger learning disability that is NVLD. Patients with disorder of written expression have a decreased ability to present information in writing compared with verbal expression.

11.
(B)
This patient has a reading disorder (dyslexia), the most common type of learning disorder. Patients with a reading disorder have a hard time processing sound units and sound-symbol relationships. They often have difficulty with phonologic processing. Although dyslexia has been characterized by frequent letter reversals in the lay literature, this feature is not required to make the diagnosis. Another myth is that dyslexia is primarily a disorder of males. More recent population-based studies did not demonstrate a difference in prevalence rates between males and females.

12.
(E)
This patient most likely has a reading disorder (dyslexia). In patients with reading disorders, a thorough history and physical examination, including an assessment of reading skills, are sufficient to make the diagnosis. Laboratory evaluations, such as chromosome karyotyping, electroencephalography, and neuroimaging studies, are performed when clinically indicated. Behavior rating scales are helpful adjuncts in the evaluation for ADHD. Although patients with ADHD can have underlying learning disabilities, dyslexia and ADHD are separate conditions. Should a patient with a reading disorder manifest signs and symptoms of ADHD, an evaluation would be warranted.

13.
(D)
Autism and pervasive developmental disorders (PDDs) represent a spectrum of disorders associated with cognitive and neurobehavioral problems. Patients demonstrate impairments in verbal and nonverbal communication and social interaction. In addition, they can demonstrate repetitive and restricted patterns of behavior. The 5 subgroups listed under the pervasive developmental (autistic spectrum) disorders category in the
DSM
-
IV
are autistic disorder, Asperger syndrome, PDD not otherwise specified, childhood disintegrative disorder, and Rett syndrome. Angelman syndrome is not listed as a subtype of the autistic spectrum disorders, although there seems to be substantial overlap between this disorder and autism.

14.
(B)
This patient probably has autism. Patients with autism often have impairment in social interactions manifested by decreased eye contact, failure to develop peer relationships, lack of awareness of others, and failure to participate in groups. These patients are often described as not being very affectionate. Patients with autism also demonstrate impairment in communication that can be quite variable. Some patients have no spoken language, whereas others have immature forms of language, such as echolalia. There may be a stereotyped or repetitive use of language. Those with adequate speech may be unable to sustain a conversation. Finally, patients with autism typically demonstrate restrictive, repetitive and stereotypic behaviors, such as hand-flapping. They may be fascinated with parts and movements of an object, such as the opening and closing of drawers. Children with autism are usually inflexible in their adherence to certain routines. Onset is before the age of 3 years. Patients with childhood disintegrative disorder have significant regression in 2 or more areas of functioning after at least 24 months of normal early development. It is a relatively rare disorder that usually occurs between 3 and 4 years of age but can occur up to approximately 10 years of age.