Week 11 Developmental Disabilities and Pedi Mental Health Flashcards
The primary care nurse practitioner is examining a 3-year-old child who speaks loudly, in a monotone, does not make eye contact, and prefers to sit on the exam room floor moving a toy truck back and forth in a repetitive manner. Which disorder does the nurse practitioner suspect?
A Executive function disorder
B Autism spectrum disorder
C Attention-deficit/hyperactivity disorder
D Sensory processing disorder
B Autism spectrum disorder
Autism spectrum disorder manifests in toddlers by alterations in socialization and speech as described above, along with repetitive behaviors. ADHD manifests with a lack of focus on activities and distractibility. Executive function disorders can manifest in a variety of ways but not with repetitive behaviors. Children with sensory processing disorders have altered responses to sensations.
Which of the following are associated with Turner Syndrome? Select all that apply.
A Short stature
B Ovarian dysfunction
C Low IQ
D Vision problems
E Heart defects
F High-arched palate
A Short stature
B Ovarian dysfunction
E Heart defects
Most common features of Turner’s are short stature and lack of ovarian function. 1/3 to 1/2 have heart defects such as coarctation of the aorta. IQ is normal.
Which clinical findings tend to support a diagnosis of Klinefelter syndrome? (Select all that apply.)
A Small penis
B Large testes
C Short arm span
D Scoliosis
E Gynecomastia
Klinefelter syndrome is characterized by tall stature with long arm spam, scoliosis, small penis and testes, and gynecomastia.
A Small penis
D Scoliosis
E Gynecomastia
The primary care nurse practitioner is performing an examination on a 5-year-old child who exhibits ritualistic behaviors, avoids contact with other children, and has limited speech. The parent reports having had concerns more than two years ago about autism, but was told that it was too early to diagnose. What will the nurse practitioner do first?
A Reassure the parent that if symptoms weren’t present earlier, the likelihood of autism is low
B Ask the parent to describe the child’s earlier behaviors from infancy through preschool
C Administer an M-CHAT screen to screen the child for communication and socialization delays
D Refer the child to a pediatric behavioral specialist to develop a plan of treatment and management
B Ask the parent to describe the child’s earlier behaviors from infancy through preschool
The DSM-5 criteria state that a patient must show symptoms from early childhood even if the symptoms are not recognized until later in life. The parent had noticed symptoms prior but was told not to worry; these symptoms should be evaluated in light of the current symptoms. The M-CHAT is used for infants and toddlers and not for school-age children. Autism symptoms are generally evident by age 3 years. The PNP should complete the assessment before making a referral.
Fragile X affects males and females. Females often have milder symptoms.
True or False
True
Fragile X affects males and female and is more common in males. Symptoms are milder in females. The average age of diagnosis for boys is 36 months and girls is 42 months.
The parent of a school-age child reports that the child becomes frustrated when unable to perform tasks well and often has temper tantrums and difficulty sleeping. Which disorder may be considered in this child?
A Generalized anxiety disorder (GAD)
B Separation anxiety disorder (SAD)
C Pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection (PANDAS)
D Obsessive-compulsive disorder (OCD)
A Generalized anxiety disorder (GAD)
GAD is characterized by over-concern about competence, significant self-consciousness, irritability and tantrums, and poor sleep. OCD results in recurring thoughts, images, or impulses. Patients with PANDAS have OCD- and Tourette-like symptoms. SAD causes difficulties separating from caregivers and being away from home.
An adolescent has recently begun doing poorly in school and has stopped participating in sports and other extracurricular activities. During the history interview, the adolescent reports feeling tired, having difficulty concentrating, and experiencing a loss of appetite for the past few weeks but cannot attribute these changes to any major life event. Which is an important next step in the evaluation and management of this patient?
A Administering a diagnostic rating scale for depression
B Referring the adolescent to a mental health specialist
C Considering a short-term trial of an antidepressant medication
D Determining suicidal ideation and risk of suicide
D Determining suicidal ideation and risk of suicide
Because this adolescent exhibits clear signs of depression, the first goals of management are to determine suicidal risk and to intervene to prevent suicide since the risk of suicide is greatest during the first 4 weeks of a depressive episode. A diagnostic rating scale may help in diagnosing the depression, but assessing suicide risk is a priority. Antidepressant medications may be useful but are best initiated by a mental health specialist. The initial response in adolescents should be to determine suicide risk to decide whether to admit to inpatient therapy or refer to a mental health specialist.
The primary care nurse practitioner is conducting a follow-up examination on a child who has recently begun taking a low-dose stimulant medication to treat attention-deficit/hyperactivity disorder (ADHD). The child’s school performance and home behaviors have improved. The child’s parent reports noticing a few tics, such a twitching of the eyelids, but the child is unaware of them and isn’t bothered by them. What will the nurse practitioner recommend?
A Stopping the medication immediately
B Continuing the medication as prescribed
C Adding an alpha-agonist medication
D Changing to a non-stimulant medication
B Continuing the medication as prescribed
Tics may occur as a side effect of stimulant medications but do not need to be discontinued if there is a net benefit and the symptoms are not disturbing to the child. It is not necessary to add an alpha-agonist, change to a non-stimulant medication, or stop the medication.
The parent of a child diagnosed with attention-deficit/hyperactivity disorder (ADHD) tells the primary care pediatric nurse practitioner that the child gets overwhelmed by homework assignments, doesn’t seem to know which ones to do first, and then doesn’t do any assignments. The nurse practitioner tells the parent that this represents impairment in which executive function?
A Activation
B Emotion
C Focus
D Effort
A Activation
Activation is an executive function that helps individuals organize, prioritize, and begin activities. This child cannot prioritize a group of assignments and winds up not doing any of them, showing an inability to prioritize and begin activities. Effort is the function associated with sustaining effort and regulating awareness. Emotion is the function of managing frustration. Focus is associated with sustaining and shifting attention to a task.
An adolescent is diagnosed with major depression, and the mental health specialist has prescribed fluoxetine. What other treatment is important to protect against suicide risk?
A Cognitive-behavioral therapy
B Hospitalization
C Family therapy
D Addition of risperidone therapy
A Cognitive-behavioral therapy
Cognitive-behavioral therapy appears to have a protective effect against suicide and the best treatment responses come from combinations of cognitive-behavioral therapy and selective serotonin reuptake inhibitors (SSRIs). Risperidone and other antipsychotics are used if psychosis is present to control those symptoms. Family therapy is useful but does not add protection from suicide. Hospitalization is not the first-line treatment and is used for severe exacerbations or suicide attempts.
Your 9 yo male patient is a very active child with limited self-control. He is easily distracted and has difficulty concentrating, staying on task, and working toward a goal. You determine that he should have a neurodevelopmental evaluation because he is showing signs of
a. ADHD
b. Dyslexia
c. Autism
d. Impaired hearing
a. ADHD
ADHD is marked by inattention, impulsiveness, a low tolerance for frustration, and a great deal of inappropriate behavior. This can be exhausting for parents and teachers. In some cases, ADHD can be managed by medications, but the use of medications is controversial. A specialist should evaluate a child suspected of having ADHD.
Common medications for treating ADHD include
a. Aminophylline and antihistamines
b. Methylphenidate, amphetamine and their derivatives
c. Amphetamines and Accutane
d. Codeine and Valium
b. Methylphenidate, amphetamine and their derivatives
Amphetamine (Dexedrine, Adderall) and methylphenidate (Ritalin, Concerta, Methylin, Focalin, and so on) are preferred drugs for pediatric ADHD. Ritalin is a CNS stimulant that blocks the reuptake of norepinephrine and dopamine into the presynaptic neurons and increases the release of these monoamines into the extraneuronal space. Dexedrine probably causes the nerve endings to produce more norepinephrine at the synapse. Dysfunction in the actions of the neurotransmitters dopamine and norepinephrine may be key to the pathophysiological mechanisms of ADHD. These medications are likely effective in many cases of ADHD because they allow for these chemicals to be reabsorbed and recirculated.
While assessing the eyes of a newborn, you observe inner canthal folds and Brushfield spots. What is the primary differential diagnosis?
a. Trisomies
b. Turner syndrome
c. Down syndrome
d. Neurofibromatosis
c. Down syndrome
If you notice inner canthal folds and Brushfield spots, you should suspect Down syndrome. Slanted palpebral fissures are seen with other trisomies, blue sclera and osteogenesis imperfecta with Turner ’ s syndrome, and Lisch nodules with neurofibromatosis.
Which feature(s) of fragile X syndrome should be evaluated during well-child examinations?
a. Being easily overwhelmed by stimuli and language delays
b. Shorter linear growth
c. Increased frequency of ear infections
d. Difficulty swallowing
a. Being easily overwhelmed by stimuli and language delays
The behavioral features of fragile X syndrome include being easily overwhelmed by stimuli, excessive chewing on clothes, and frequent tantrums. Other features include hand biting, hand flapping, hyperactivity, mood instability, perseveration (repetition) and delays in speech, poor eye contact, short attention span, shyness, social anxiety, and tactile defensiveness. Linear growth, the incidence of ear infections, and difficulty swallowing are not affected by fragile X syndrome.
Julie, age 15, is 5 feet tall and weighs 85 lbs. You suspect anorexia and know that the best initial approach is to
a. Discuss proper nutrition
b. Tell Julie what she should weigh for her height and suggest a balanced diet
c. Speak to her parents before going any further
d. Confront Julie with the fact that you suspect an eating disorder
d. Confront Julie with the fact that you suspect an eating disorder
If you suspect anorexia, the best initial approach is to confront Julie with the fact that you suspect an eating disorder. Clients are usually aware that a problem exists but need the extra “push” that confrontation provides. Once they accept the diagnosis, proven treatments include medical monitoring, nutritional counseling, psychotherapy, including behavioral therapy, family counseling, and stress-reduction techniques, medications, and support groups.
Which statement about attention deficit hyperactivity disorder is correct?
a. This is more common in girls younger than age 9 years.
b. Family history does not play a role in this disorder
c. Hyperactivity must be present for this diagnosis
d. DSM V is used to diagnose a child with ADHD
d. DSM V is used to diagnose a child with ADHD
Anorexia nervosa is a steady, intentional loss
of weight with maintenance of that weight at an
extremely unhealthy low level. Which statement
is true regarding anorexia nervosa?
A. The poor eating habits result in diarrhea.
B. It may cause tachycardia.
C. It may occur from prepubescence into the
early 30s.
D. It may cause excessive bleeding during menses.
C. It may occur from prepubescence into the
early 30s.
Anorexia nervosa may occur from prepubescence into the early 30s and occurs most commonly from early to late adolescence. It occurs more frequently in women and may cause bradycardia, arrhythmias, and amenorrhea. Constipation is common in clients with anorexia because of their poor eating habits.
Which of the following criteria is not diagnostic for a child with attention deficit hyperactivity disorder (ADHD)?
A. The child frequently blurts out the answer to a question before the question is finished.
B. The child has difficulty following directions.
C. The child talks very little but is very restless.
D. The child often engages in physically dangerous activities
C. The child talks very little but is very restless.
C Diagnostic criteria for the child with ADHD include frequently blurting out answers before a question is finished, difficulty following directions, engaging in physically dangerous activities (often without thinking of the consequences of actions), tending to talk excessively, and often interrupting others. Behavior in which the child talks very little but is very restless is not indicative of ADHD.
Suzanne ’ s 8-year-old daughter, Natasha, has attention deficit-hyperactivity disorder (ADHD). She asks if Natasha will “ outgrow ”her ADHD. You respond,
A. “ Yes; when they become young adults, most children outgrow the problem. ”
B. “ No; unfortunately, Natasha will have this for the rest of her life. ”
C. “ No, but there are many treatments available that we need to start now. ”
D. “ About 50% or more of affected children will continue to have some difficulty as adolescents and adults. ”
D. “ About 50% or more of affected children will continue to have some difficulty as adolescents and adults. ”
Long-term studies have shown that school-age children and adolescents with attention deficithyperactivity disorder (ADHD) experience school failure, aggression, antisocial behavior, poor social skills, emotional immaturity, low self-esteem, and interpersonal conflicts. The same studies revealed that more than 50% of adults who had ADHD as children continue to exhibit anxiety, low selfesteem, personality disorders, alcohol and substance abuse, and interpersonal difficulties.
Fragile X syndrome is usually diagnosed when a child
A. is a newborn.
B. begins to walk.
C. is past the toddler stage.
D. begins puberty.
C. is past the toddler stage.
It is rare for a child to be diagnosed with fragile X syndrome during the first year of life. Although it is possible to detect the syndrome by amniocentesis, that screening is not routinely done unless there is a family history of the disorder. The child is often past the toddler stage when a diagnosis is made.
You suspect autism in the young child of a client of yours, but the client says the child is just shy. For a diagnosis of autism, you know the Diagnostic and Statistical Manual of Mental Disorders requires that three criteria be present. Which of these behaviors would lead the nurse practitioner to suspect autism in a young child?
A. Receiving immunizations that use thimerosal as adjuvants
B. Abnormal verbal and nonverbal communication
C. Reliance on an imaginary friend for all interactions by a preschooler
D. Inability of a newborn to track mother ’ s face from left to right
B. Abnormal verbal and nonverbal communication
The DSM-IV specifies the three core deficits of autism. These are impaired reciprocal social interactions, abnormal verbal and nonverbal communication, and a diminished repertoire of activities and interests, with the onset during infancy or childhood. Reliance on an imaginary friend for all interactions is not a diagnostic criterion of autism. There is no conclusive evidence supporting the increased incidence of autism in populations that receive immunizations containing mercury. The amount of thimerosal has been greatly reduced in vaccines. Neonates normally can follow an object or face to midline, not across midline
A 6-year-old has just been diagnosed with attention deficit hyperactivity disorder. His parents report that he is doing poorly in school and is often disruptive in the classroom. They ask what they can do. Your best response is:
A. “ Children usually outgrow a high activity level. ”
B. “ Use a consistent approach with behavioral ‘ cues ’ both at home and at school. ”
C. “ Medications are the only interventions that can help with ADHD. ”
D. “ You can have him tested for food and environmental allergies. ”
B. “ Use a consistent approach with behavioral ‘ cues ’ both at home and at school. ”
Studies have shown that a consistent approach with rewards and behavioral cues to remind the child when his behavior has exceeded acceptable limits is helpful to assist him in succeeding with schoolwork.
Jake, 8 years old, is brought in by his mother for evaluation of school problems. When he was 4 years old, his preschool teacher had expressed concern regarding his high activity level interfering with play with other children. Now, in third grade, he is underachieving in both math and reading. His teacher says that he constantly fidgets and bothers the other children. The school counselor has recommended that he be evaluated for attention deficit hyperactivity disorder (ADHD). Which question would provide important additional information regarding the possible diagnosis of ADHD?
A. “ How do you think his behavior compares to the other 8-year-olds you know? ”
B. “ How does his teacher handle his behavior in school?
C. “ What is he like at home? ”
D. “ Has anyone in your extended family had a diagnosis of ADHD? ”
C. “ What is he like at home? ”
ADHD is among the most common neurodevelopmental disorders in children. Its hallmarks are hyperactivity, impulsiveness, and inattention beyond the norm for the child ’ s age. Signs of ADHD are typically seen across settings rather than only in one setting or environment. Therefore, it is important to understand if the concerning behaviors are seen at home as well as at school. The diagnosis is reliable if made by a standardized approach
Janice, age 14, is markedly obese and has a poor self-image. How do you differentiate between compulsive eating and bulimia?
a. Bulimia results in irregular menstruation
b. A compulsive eater does not induce vomiting
c. A compulsive eater has tooth and gum erosion
d. A compulsive eater does compulsive exercising
b. A compulsive eater does not induce vomiting
Compulsive (binge) eating disorder and bulimia nervosa are two very serious types of eating disorders. There are overlapping criteria for the disorders, but the main difference in the presence of purging, which occurs in bulimia. Those with bulimia nervosa will engage in periods of binge-eating following by purging while those with compulsive eating disorder do not purge after a period of eating.
Which statement is accurate regarding a patient who is at highest risk for an eating disorder?
A. Male
B. 25 to 35 years old
C. Low self-esteem
D. Bipolar personality
C. Low self-esteem
Patients with eating disorders tend to have low self-esteem. Other factors that appear to increase the risk of an eating disorder include female gender, young age, perfectionist personality, family hx of eating disorders, attempts to diet, depression, and living in cultures in which thinness is a standard of beauty
Marie, age 17, was raped when she was 13. She is now experiencing sleeping problems, flashbacks, and depression. What is your initial diagnosis?
A. Depression
B. Panic disorder
C. Anxiety
D. PTSD
D. PTSD
PTSD is a mental health condition triggered by a terrifying event, such as rape – either through experience or witnessing it. Symptoms may include flashbacks, nightmares and severe anxiety.
Which of the following conditions is most often responsible for developmental delays in children?
A. Cerebral palsy
B. Fetal alcohol syndrome
C. Down syndrome
D. Meningomyelocele
B. Fetal alcohol syndrome
FAS is most often responsible for developmental delay in children. In descending order, the others are cerebral palsy, Down syndrome, and meningomylocele
After starting pharmacotherapy with an SSRI for an adolescent with depression, how often should this patient be seen once remission is achieved?
A. Every month
B. Every 3 months
C. Every 6 months
D. Every 12 months
B. Every 3 months
Once remission is achieved the patient should be seen in the office at least every three months. Monitor for continued efficacy, side effects, risk of suicidality.
After initiating an adolescent on SSRIs, they should be seen or contacted by phone weekly for the first 2 weeks, then titration can occur every 3 to 4 weeks until remission occurs. Once remission has occurred, patients can be seen every 3 months. Once symptoms are stable, medication should be continued for 6 to 12 months. When considering discontinuation, medication should be tapered slowly over the course of 1 to 2 months.
After starting pharmacotherapy with an SSRI for an adolescent with depression, how long should medication be continued once remission has been achieved?
A. 4- 6 weeks
B. 2- 3 months
C. 6- 12 months
D. until adulthood
C. 6- 12 months
Because of high risk of relapse adolescents should remain on antidepressant therapy for at least 6-12 months after going into remission.
After initiating an adolescent on SSRIs, they should be seen or contacted by phone weekly for the first 2 weeks, then titration can occur every 3 to 4 weeks until remission occurs. Once remission has occurred, patients can be seen every 3 months. Once symptoms are stable, medication should be continued for 6 to 12 months. When considering discontinuation, medication should be tapered slowly over the course of 1 to 2 months.
Depressed mood should be present for at least how long before making a diagnosis of a major depressive episode?
A. 1 week
B. 2 weeks
C. 4 weeks
D. 8 weeks
B. 2 weeks
Symptoms of MDD must be present for at least two weeks to consider MDD is the DDX -
Symptoms include five or more of the following sx - depressed mood, insomnia, hypersomnia, change in appetite, weight, agitation, psychomotor retardation, poor concentration, guilt or worthless thought.
A patient reports symptoms of restlessness, fatigue, and difficulty concentrating. The provider determines that these symptoms occur in relation to many events and concerns. What would be considered your top differential diagnosis?
A. Major depression disorder
B. Obsessive compulsive disorder
C. Generalized anxiety disorder
D. Panic disorder
C. Generalized anxiety disorder
This patient has symptoms consistent with generalized anxiety disorder (GAD) in which feelings occur in relation to many events.
May use GAD calculator to assist with diagnosis
A patient is seen frequently over a 9-month period with somatic complaints that are not related to physical disease. The primary provider notes that the patient has had a 15% weight loss in the previous 2 months and the patient reports difficulty sleeping. How do you approach this patient?
A. Perform a suicide risk assessment
B. Prescribe an SSRI
C. Refer to psychotherapy
D. Suggest CBT
A. Perform a suicide risk assessment
For any patients with symptoms of depression, the initial action is to perform a thorough assessment and evaluate potential suicide risk. SSRIs can be prescribed once a diagnosis is determined according to diagnostic criteria. Psychotherapy and cognitive-behavioral therapy may also be prescribed.
Which of the following electrolyte abnormalities would indicate purging behavior in a patient with suspected bulimia nervosa (BN)?
A. Hyperkalemic, hypocholeremia
B. Hypokalemic, hypocholermia
C. Hyponatremia, hyperchloremia
D. Hypernatremia, hyperchloremia
B. Hypokalemic, hypocholermia
Repeated emesis would result in loss of K+ and Cl-
The purging behavior associated with some eating disorders such as bulimia nervosa may lead to increased loss of gastric acid, leading to a hypokalemic hypochloremic metabolic alkalosis. Laxative abuse may also lead to hypokalemia.
Which of the following lab values is not found in patients with anorexia nervosa (AN)?
A. Elevated ESR
B. Normal electrolytes
C. Normal UA
D. Normal WBC
A. Elevated ESR
The erythrocyte sedimentation rate (ESR) is typically normal or low in patients with anorexia nervosa. An elevated ESR should prompt evaluation for other causes of weight loss and malnutrition. It is common for patients with anorexia nervosa to have normal lab values, including urinalysis, electrolytes, and complete blood cell count. If the complete blood cell count is abnormal in patients with AN, the white blood cell count is more likely to be depressed secondary to malnutrition, not elevated.
Which of the following interventions have been shown to improve low bone mineral density in adolescent women with anorexia nervosa (AN)?
A. Estrogen-progesterone OCPs
B. Bisphosphonates
C. Calcium supplements
D. None of the above
D. None of the above
Research to date has not supported the use of pharmacotherapy or supplementation for the treatment of bone loss secondary to anorexia.
Loss of bone mineral density (BMD) is one of the most common complications in patients with anorexia nervosa (AN). Body weight is an important determinant of bone health. Healthy adolescents with optimal nutrition should be gaining bone mass.
Early detection of low BMD and weight restoration is the most important intervention.
There are no safe and effective pharmacologic interventions that consistently improve or restore BMD in adolescents with AN.
Specifically, interventions that have been shown to be effective in postmenopausal women, such as oral estrogen, bisphosphonates, and calcium supplementation, have not been shown to consistently increase BMD in younger women with AN. There may be a role for transdermal estrogen and cyclic progesterone in some adolescents with AN.
A 15-year-old girl presents to primary care clinic to discuss mood swings. She has irritability, anhedonia, difficulty concentrating, hypersomnia, and anorexia. She denies depressed mood. Her mother insists that she is not depressed because she feels better when she is with her friends. The patient denies suicidal ideation.
Does she meet criteria for major depression? What is different about her presentation compared to that of an adult?
● Adolescents are more likely to display alterations of mood and not necessarily “feel depressed.”
● These symptoms include irritability, feeling short-tempered, and anger.
● For adolescents, depression may not be consistent across different social situations. They may not be as irritable around friends.
Using the mnemonic SIGECAPS, adolescent tendencies are as follows:
● Sleep (changes in): More likely increased sleep
● Interest (loss of): Profound anhedonia with a sense of hopelessness
● Guilt: Not as prevalent as in adults
● Energy loss: Not as prevalent as in adults
● Concentration/cognition (decrease in): often display difficulty in school or with homework
● Appetite (changes in): Increased appetite and weight gain
● Psychomotor (agitation or retardation): Only in severe cases; can lead to catatonia.
● Suicide: Girls are starting to use more life-threatening attempts than in previous years.
To meet the diagnosis of major depression, a patient must have four of the symptoms plus depressed mood or anhedonia, for at least two weeks.
What are potential risk factors for depressive disorders in children and adolescents?
● Biologic: female sex, chronic medical illness, obesity, family history
● Environmental: poor academic performance, low socioeconomic status, relationship changes (peers, family), history of prior trauma or abuse
● Psychological: negative body image, negative self-talk
Who should be screen for depressive disorders among children and adolescents?
The US Preventive Services Task Force (USPSTF) has a B recommendation to screening all adolescents aged 12 to 18 years. Screening should be implemented with adequate systems in place to ensure accurate diagnosis, effective treatment, and appropriate follow-up. There are a variety of screening tools available including the Pediatric Symptom Checklist (PSC) and Beck Depression inventory.
You decide that the15-year-old girl with irritability, anhedonia, difficulty concentrating, hypersomnia, and anorexia meets criteria for major depression and, after discussion with the patient and her mother, you decide that you would like to initiate therapy.
What are your first-line therapy options? Which of these are approved by the FDA for use in adolescents?
Cognitive Behavioral Therapy (CBT)
● In randomized clinical trials, CBT has been shown to improve response rates for adolescent depression. It is important to initiate therapy soon after diagnosis.
● For adolescents with mild episodes of unipolar major depression, it may be appropriate to begin with CBT alone, though if no response is noted within 6 to 8 weeks, pharmacotherapy should be considered.
● Combination therapy (ie, CBT plus pharmacotherapy) is appropriate for adolescents with complicated depression or who do not respond to supportive treatment.
Pharmacotherapy
● If you decide to start pharmacotherapy, monotherapy with an SSRI is the best first-line agent as it has been shown to produce up to a 60% response rate in adolescents.
● Start at a low dose and increase slowly.
FDA Approved:
● Fluoxetine (Prozac) in children older than 8 years old
● Escitalopram (Lexapro) in children older than 12 years old
● Reasonable alternatives with good randomized control trial (RCT) data: citalopram (Celexa) and sertraline (Zoloft)
● Avoid paroxetine (Paxil): higher association with increased suicidal ideation
What is the recommended monitoring interval after starting an SSRI for an adolescent?
At each visit ask about side effects, specifically suicidal ideation, and whether or not the patient feels like the medication is helping.
● Every week for 4 weeks
● Every other week for at least 2 visits
● 12 weeks later, then at every 3 months once remission of symptoms have been documented to continue to screen for suicidal ideation/recurrent depression
● Once remission has been achieved, therapy (CBT or pharmacotherapy) should be continued for 6 to 12 months
How do you discuss the increased risk of suicide with fluoxetine with the 15 year old patient and her mother?
It is important to acknowledge that there is a slight increase in risk of suicidal ideation as the medication is started. You should highlight that it is a very slight increase in risk, but that is why you will be seeing the patient back next week.
You should also let mom and the patient know so that they can be aware to look for it. You should provide contact information for your office if she starts having thoughts of suicide.
You have maximally titrated fluoxetine without response. The 15 year old F continues to meet criteria for depression and does not feel like you have made any difference with the first medication.
What are your next steps?
Switch to another SSRI. Almost 50% of adolescents who were initial non-responders to SSRIs responded to a second SSRI in a randomized clinical trial of 334 patients aged 12 to 18 years.
If the second SSRI does not work, you will need to consider referral to a psychiatrist. They may switch to another class of medication, likely venlafaxine (Effexor) or bupropion (Wellbutrin).
Ensure that CBT has been set up and that follow-up care is in place.
Which of the following medications has been shown to have little or no benefit in the treatment of moderate to severe depression in children and adolescents?
A Fluoxetine
B Citalopram
C Nortriptyline
D Sertraline
C Nortriptyline
Tricyclic antidepressants such as nortriptyline have been shown to have little to no benefit in the treatment of depression in childhood and adolescence. Selective serotonin reuptake inhibitors (SSRIs) such as fluoxetine and sertraline are first-line treatment for children and adolescents with moderate to severe depression. The selective serotonin norepinephrine inhibitor (SNRI) citalopram is also first-line treatment for moderate to severe depression in pediatric patients.
Nortriptyline is a TCA which are no longer considered first-line for depression. Used for chronic pain, panic attacks, anxiety disorders or smoking cessation.
What is the estimated prevalence of depression in adolescents 13 to 18 years old?
A Less than 2%
B 5% to 10%
C 15% to 20%
D 25% to 30%
B 5% to 10%
The estimated prevalence of depression in adolescents age 13 to 18 is approximately 5%. The estimated prevalence of depression in children younger than 13 is approximately 3%
After starting pharmacotherapy with an SSRI for an adolescent with depression, how often should this patient be seen in the office or contacted by phone during the titration period?
A They do not need to be seen or called on a regular schedule.
B They should be seen or called 3 times per week until remission is achieved.
C They should be seen 1 and 2 weeks after starting the medication, then titration should occur every 3 to 4 weeks until remission occurs.
D They should be seen every 3 months until remission occurs.
C They should be seen 1 and 2 weeks after starting the medication, then titration should occur every 3 to 4 weeks until remission occurs.
After initiating an adolescent on SSRIs, they should be seen or contacted by phone weekly for the first 2 weeks, then titration can occur every 3 to 4 weeks until remission occurs. Once remission has occurred, patients can be seen every 3 months. Once symptoms are stable, medication should be continued for 6 to 12 months. When considering discontinuation, medication should be tapered slowly over the course of 1 to 2 months.
Sara is a 17-year-old girl who has had type 1 diabetes for 8 years. She presents for routine health maintenance. She saw one of your partners 6 months ago, but you have not seen her in almost a year. She has had two hospitalizations for diabetic ketoacidosis (DKA), her hemoglobin A1c (HbA1c) is 12.6%, and she has lost 15 lb since her last visit.
What is the connection between diabetes and eating disorders?
Though prevalence rates vary widely, eating disorders (particularly BN and specified/unspecified eating disorder) are approximately twice as common among adolescent females with type 1 diabetes mellitus relative to peers without diabetes.
The consequences of eating disorders among youth with diabetes are significant and include short-term consequences (increase in medical crises, hyperglycemia, hypoglycemia, diabetic ketoacidosis, hospitalizations) and long-term consequences (microvascular disease, retinopathy, albuminuria).
Providers should maintain a low index of suspicion for eating disorders in this population and treat eating disorders aggressively.
Of course, other factors may account for Sara’s poor metabolic control, but health care providers should consider screening for eating disorders and disordered eating behavior. Because youth may have no symptoms or complaints, each visit should include general screening questions about nutrition and body dissatisfaction. General screening questions may include:
● How do you feel about your weight?
● How much would you like to weigh?
● Do you, your friends, or your family have any concerns about your eating, exercise, or weight?
For patients with diabetes, consider asking this true or false question:
● I sometimes take less insulin than I should.
Affirmative responses to the question should prompt the clinician to investigate the issue further.
Which of the following medications is not used in the treatment of bulimia nervosa to decrease binging and purging episodes?
A Olanzapine
B Fluoxetine
C Topiramate
D Desipramine
A Olanzapine
Fluoxetine, topiramate, and tricyclic antidepressants such as desipramine, amitriptyline, and imipramine have been shown to decrease binging and purging in patients with bulimia nervosa, and may be of particular help when combined with behavioral therapy.
Olanzapine may be used in the treatment of anorexia nervosa to stimulate appetite and weight gain but is not used to decrease binging and purging.
Michael is an 8-year-old who presents with his mother after his teacher told her to have him evaluated for ADHD. He repeated the first grade last year and reads on a “kindergarten level.” She receives daily notes from his teacher regarding “acting out” in class, including getting out of his seat, not following directions, and fighting. When she is with him alone at home he is “well-behaved” and can sit still watching TV for hours at a time. She did take him out of Little League for problems with behavior last summer.
He is now sitting quietly in the exam room with his mother.
Does Michael have ADHD? What are the criteria for diagnosis?
For children less than 17 years of age, the DSM-V requires 6 or more of 9 symptoms of hyperactivity and impulsivity or 6 or more of 9 symptoms of inattention.
Symptoms must:
● Occur often
● Be present in more than one setting (for example, home and school)
● Persist for more than 6 months
● Be present before age 12
● Impair function in work, school, or home
● Be more severe than what would be expected based on the developmental age of the child
Michael has impaired function in two settings (school and sports team). Sometimes parents have accommodated to behavior or are able to provide more direct one-on-one attention with more freedom to move around than required at school. Children with ADHD are often able to watch TV or play video games for long periods of time due to the increased interest level in these activities and constant changes on the screen.
Inattention symptoms may include but are not limited to:
ADHD
● Fails to pay close attention or makes careless mistakes
● Difficulty paying attention during work or play
● Seems not to listen, even when being addressed directly
● Trouble following through on instructions
● Difficulty organizing tasks
● Avoids or reluctant to engage in tasks that require sustained mental effort
● Often loses things needed to complete tasks or activities
● Easily distracted by extraneous stimuli
● Often forgetful in daily activities
Hyperactivity/impulsivity symptoms may include but are not limited to:
(ADHD)
● Often fidgets or squirms
● Leaves seat in situations where expected to stay seated
● Runs or climbs in situations when it is inappropriate
● Trouble playing quietly
● Uncomfortable being still, always “on the go”
● Often talks excessively
● Often answers before a question is completed, has trouble waiting for next turn in conversation
● Difficulty waiting for his or her turn
● Often interrupts or intrudes on others
What scales are available for ADHD screening?
Many scales are available to assess for ADHD:
Vanderbilt ADHD Diagnostic Teacher Rating Scale
Conners 3 scale for parents/teachers/adolescents (ages 12-17)
● Short and long versions available
● Allows for adolescent and adult self-assessment scale
The CDC also has an online interactive checklist, which has been updated to reflect the changes in the DSM-V. It is easy to access and can be filled out in the room with the parent (often parents will also have ADHD / learning disabilities and the printed scales might be difficult for them to remember to fill out and return). A blank copy can be printed out for the teacher/coach/etc.
What are the different types of ADHD and what is attention-deficit disorder (ADD)?
- Primary inattentive (6 or more positive behaviors in inattentiveness category)
- Primary hyperactive/impulsive (6 or more positive in this category)
- Combined type (6 or more positive in each category)
The term ADD is no longer in widespread use in the medical community but remains common in the educational community.
The mother returns for a follow-up appointment after she and the teacher have completed the Vanderbilt scales. Both are positive for 7 behaviors in the hyperactive/impulsive category and 6 behaviors in the inattentiveness category. He also scored high on the anxiety/depression questions as well as “problematic” in reading.
What are the basic components of a treatment plan for ADHD?
Identify comorbid conditions and treat accordingly:
o Academic testing for learning disability if any trouble with academic skills
o Mental health referral for mood disorder or conduct disturbance
o Hearing and vision screening
o Tutoring for problematic areas
Behavior management plan:
o Identify specific goals which will be easy to monitor (2-3 behaviors)
o Consider reward system for meeting goals
o Online resources available through American Academy of Pediatrics (AAP), CDC, and Children and Adults with Attention-Deficit /Hyperactivity Disorder (CHADD) programs (http://www.chadd.org/)
Medication (stimulants)
Close follow-up
o The total score of the 18 specific ADHD behaviors on the Vanderbilt scale can be used to measure progress.
Anna is a 22-year-old medical student who wants to be evaluated for ADHD after she failed her physiology exam last week. She had difficulty studying because she was easily distracted. Her fiancé ended their relationship 3 weeks prior to the exam. Their relationship was strained by her forgetfulness (losing keys, credit cards), constant studying, and messy apartment. She describes herself as a “very active” child.
What are the criteria for diagnosis of adult ADHD?
For patients older than 17 years of age, the DSM-V requires 5 or more of 9 symptoms of hyperactivity and impulsivity or 5 or more of 9 symptoms of inattention
What are the difficulties with diagnosing and treating ADHD in adults?
Comorbidities (anxiety, depression, substance abuse, etc)
o Consider referral to mental health provider.
o Some adult psychiatrists believe that depression and stress are consequences of adult ADHD that respond to ADHD treatment.
Childhood symptom recall (were symptoms present before age 7?)
o Symptoms prior to age 12 in DSM-V criteria initially included to rule out the contribution of comorbid conditions.
o Adults diagnosed in adulthood often are primary inattentive (and might have been overlooked as a child as they were not disruptive).
o Could have parents fill out retrospective questionnaire on development and school performance or review old school reports.
Behavior scales
o Adult ADHD self-report scale (ASRS-v1.1) with 18 adult-specific ADHD behaviors, but must document in two settings.
o Adults reluctant to ask spouse, coworker, boss for collateral input.
o Many adults have developed adaptive behaviors where they have become highly functional (doctors, grad students, administrators, etc).
o Treatment is difficult (particularly with stimulants due to cardiovascular side effects, addictive/abuse potential, etc).
Which of the following is not part of the initial diagnostic workup for attention-deficit / hyperactivity disorder (ADHD) in children?
A Assessment of comorbid psychiatric conditions such as anxiety and depression
B Assessment of learning disabilities
C Assessment of symptoms and behavior in two or more settings
D MRI of the brain
D MRI of the brain
Diagnosis of ADHD requires evaluation of symptoms in at least two settings (such as home and school) using a validated tool. Children should also be assessed for comorbid conditions such as depression, anxiety, learning disorders, and conduct disorders. Unless the child has elements of the history or physical that would suggest intracranial abnormality, such as history of trauma or abnormalities on neurologic exam, a brain MRI is not necessary in the initial workup of ADHD
Which of the following medications are used in the primary treatment of ADHD?
A Atomoxetine
B Fluoxetine
C Guaifenesin
D Valium
A Atomoxetine
Atomoxetine is a selective norepinephrine reuptake inhibitor and a nonstimulant medication used in the treatment of ADHD.
Fluoxetine is a selective serotonin reuptake inhibitor (SSRI) and used in the treatment of depression and anxiety. While it may be used if a patient with ADHD has comorbid depression and anxiety, fluoxetine would not be used as a primary treatment for ADHD.
Guaifenesin is an expectorant and is used for cough.
Valium is a benzodiazepine and is used for anxiety disorders, and would not be used as primary treatment of ADHD.
How long is the elimination half-life of immediate-release methylphenidate?
A 30 minutes to 1 hour
B 2 to 3 hours
C 4 to 6 hours
D 8 to 10 hours
B 2 to 3 hours
The elimination half-life of immediate-release methylphenidate is approximately 2 to 3 hours. Methylphenidate is used in the treatment of ADHD. ADHD symptoms usually diminish within an hour after taking methylphenidate but then return 3 to 4 hours later, after the medication is cleared from the body.
You are asked to examine a newborn girl in the newborn nursery who was noted to have hypotonia and a heart murmur. The nursing staff reports that there is a concern that the child has Down syndrome based on some characteristic facial features. Of note, the child’s mother is 27 years old. She has had two other healthy children. There is no family history of Down syndrome.
What are the physical exam features that would prompt you to consider a diagnosis of Down syndrome?
Hypotonia and short stature are among the most common physical findings in infants with Down syndrome.
Note that there are specific growth charts for children with Down Syndrome.
Craniofacial findings consistent with Down syndrome include: microcephaly, flattened midface, brachycephaly (including flattened occiput), round face, upslanting palpebral fissures with eyes that are often “almond shaped,” epicanthal folds (vertical folds of skin between the medial canthi and the bridge of the nose, Brushfield spots, protruding tongue, and macroglossia. The neck also tends to be short and may have some skin folds.
Limb findings include: broad, shortened hands, clinodactyly of the little finger, transverse palmar crease, and increased spacing between the first and second toes (also called sandal toe deformity).
You examine the infant and note that she is hypotonic, has brachycephaly, up-slanting eyes, a flattened midface, macroglossia with a protruding tongue, a II/VI holosystolic heart murmur along the left sternal border, and a single transverse palmar crease.
What is most likely the diagnosis? What are the 3 variations of this? Which of these is most common?
Down Syndrome
Trisomies are the most common chromosomal syndromes encountered clinically; trisomy 21, 18, and 13 are the commonly seen trisomies, with trisomy 21 being the most frequent.
In the vast majority of cases, trisomy 21 results from nondisjunction of the 21st chromosome (approximately 95%). A translocation of chromosome 21 occurs in about 4%, and another 1% of persons with Down syndrome are the result of mosaicism (with some normal cells and some cells with trisomy 21).
How common is Down syndrome?
The prevalence of Down syndrome appears to be increasing.
According to the CDC Down syndrome is present in 1/691 live births in the United States
Therefore, it is estimated that approximately 6000 babies are born each year in the United States with Down syndrome.
Over half of the infants with trisomy 21 do not survive to delivery (ie, most affected infants die in utero). There are currently more than 400 000 persons living with Down syndrome in the United States and this condition affects persons from all racial and socioeconomic levels.
What maternal risk factor is most associated with having a child with Down syndrome?
Advanced maternal age is the most recognized risk factor for having a child with Down syndrome.
However, 80% of children with Down syndrome are born to mothers younger than 35 years old.
You are concerned that the child has Down syndrome and decide to tell the parents of your concern. How should you discuss your concerns with the parents?
The National Down Syndrome Society website (www.ndss.org) previously provided training videos to help health care professionals discuss the diagnosis of Down syndrome with the parents. The salient points from this training are noted below:
● Wait until the mother is out of the delivery room. This news can be shared when she is in the recovery room.
● Generally, parents prefer to know the diagnosis as soon as possible.
● Ideally, the provider who gives the news should be known to the family.
● When possible, it is best to share the news with both parents at the same time. Otherwise, the mother will have the formidable task of telling the rest of the family.
● Sit down, rather than standing to discuss the diagnosis.
● It’s important to talk about the health of the child.
● Bring the baby into the room when discussing your physical exam findings with the parents. Demonstrate them on the infant as you discuss your findings. (If not, the parent’s imagination about the abnormal findings may be unnecessarily exaggerated).
● Let the parents know that you cannot make a definitive diagnosis without a karyotype (for chromosomal analysis), but share your concerns about the possible diagnosis.
● Don’t make assumptions about this news being viewed as a tragedy.
● Ask “What questions do you have?” (rather than “Do you have any questions?”) Also, be prepared to provide multiple occasions for parents to ask questions.
● Ask what information they would find helpful and be prepared to provide resources to the parents, such as the National Down Syndrome Society.
● Do not assume or express opinions about the parents’ situation.
● Do not make predictions about the future of the child. It is best to recognize every child’s individual capacity to develop.
Before the child with suspected Down Syndrome is discharged from the hospital, what other additional evaluation should be done?
Since congenital heart defects occur in up to 50% of children with Down syndrome, it is recommended that an echocardiogram be done initially on all persons with suspected Down syndrome, even in the absence of a murmur.
Thyroid stimulating hormone (TSH) and a hearing screening, which are standard recommendations for all neonates, should also be obtained prior to discharge.
A complete blood count should be obtained to assess for hematologic abnormalities, such as myeloproliferative disorder, leukemoid reaction, and polycythemia.
A 2-year-old boy with Down syndrome is seen in primary care clinic to establish care. He just moved here from a country with limited health resources and had no prior screening. The parents ask you what screening is recommended for their son.
What is the recommended screening for this child?
See the American Academy of Pediatrics (AAP) Health Supervision for Children with Down Syndrome resource to answer this question.
In addition to the recommended 2-year-old health supervision, he needs an echocardiogram and a CBC.
The screening guidelines are based on the association of Down syndrome with an increased frequency of multiple conditions:
● Congenital heart disease
● Childhood leukemia
● Thyroid disease (hypothyroidism and hyperthyroidism)
● Autoimmune disease (including celiac disease, diabetes, dermatological conditions)
● Seizure disorders
● Decrease hearing and vision
● Autism/behavior problems
● Orthopedic disorders (including atlantoaxial subluxation)
In addition, otitis media, bronchitis, and gastrointestinal illnesses are more common in persons with Down syndrome.
A 25-year-old, high-functioning woman with Down syndrome presents to primary care clinic to establish. She has no known history of heart disease and had a prior normal echocardiogram. She has completed high school and works at a supermarket stocking shelves and bagging groceries. She is here with her sister, who is concerned about increasing self-talk and some obsessive-compulsive behaviors. The behavior changes started about 3 years ago, around the time that their last living parent died. As her sister tells you about the parents’ deaths, the patient becomes tearful and repeats the story, as if it occurred “yesterday.”
What can you tell the patient and her sister about the obsessive-compulsive behaviors, self-talk, and confusion about the death of their last remaining parent?
Many persons with Down syndrome display some obsessive-compulsive tendencies. In fact, this is commonly known as “the groove.” This is quite normal. Imaginary friends are also common, as is self-talk. These behaviors can become more manifest during periods of stress.
Regarding the tearfulness and retelling the story of the parents’ deaths, it is recognized that persons with Down syndrome may have difficulty understanding events in terms of their temporal spacing in time. Events that occurred in the distant past may still be recalled as current events. Keep in mind that it is certainly possible for persons with Down syndrome to have autism and psychiatric disorders. However, the groove, imaginary friends, and self-talk are pretty common and not specifically related to a psychiatric diagnosis.
Neuropsychiatric disorders found in persons with Down syndrome include:
● Depression
● Alzheimer disease (at least one of the genes for Alzheimer disease is located on chromosome 21; therefore, persons with Down syndrome have an additional “chance” to get this gene)
● Anxiety disorders
● Compulsive disorders
● Autism
● Attention deficit hyperactivity disorder (ADHD)
It is often important to exclude treatable medical conditions that could result in behavior changes, such as obstructive sleep apnea, hypothyroidism and celiac sprue. Atlantoaxial subluxation may result in behavior changes, too, but may have physical exam findings to support the diagnosis.
A 25-year-old, high-functioning woman with Down syndrome presents to primary care clinic to establish care.
In addition to the concerns about the behavior changes, she is seeing you as her new primary care provider. She wants to participate in the Special Olympics and plays basketball and snow skiing.
What screening is recommended for adults with Down syndrome? How does the life expectancy of persons with Down syndrome temper routine screening recommendations for adults?
Unfortunately, there is not yet a firm, established series of recommendations for adults with Down syndrome, like there is for children. The latest iteration of recommendations has come from the Down Syndrome Medical Interest Group.
There is a fair amount of controversy in screening for adults with Down syndrome. Related to cancer screening, it is important to realize cancer incidence among persons with Down syndrome. This could be considered when discussing possible screening.
● Testicular cancers: more common (consider testicular exam)
● Ovarian cancers: more common (no good screening test exists)
● Cervical cancers: less common (consider following routine cervical cancer screening recommendation; however, if the patient is not sexually active and has never been institutionalized [ie, possibly sexually active], it may be rational to pass on this screening, especially in patients who require extraordinary means to accomplish the exam (such as under general anesthesia).
● Breast cancer: less common (generally recommended to follow routine breast cancer screening guidelines)
● Colon cancer: less common (given the median life expectancy, it may be rational to not screen at age 50)
● Prostate cancer: less common (consider no screening)
● Hematological malignancies: leukemia (mostly developed during childhood, therefore not screened for during adulthood)
Screening for thyroid disease is much more readily accepted and recommend as an annual screen.
Because of her wish to participate in the Special Olympics with these activities, most authorities would recommend flexion-extension views of the C-spine to evaluation for atlantoaxial subluxation.
It is not recommended to routinely screen adults with Down syndrome for celiac disease, despite the fact that this condition is more common in these individuals. (It is recommended to screen children with Down syndrome for this condition.)
However, for adults, as noted above, a reported change in behavior may warrant an evaluation for celiac sprue, which can cause the behavior changes.
Dental caries are less common in this population but periodontal disease is more common. It is recommended that adults with Down syndrome see a dentist every 6 months.
Because of the high prevalence of congenital heart disease, it is recommended that adults with Down syndrome without a previous echocardiogram be evaluated with an echocardiogram to look for unrecognized heart disease. The acquisition of mitral valve prolapse and aortic regurgitation are more common in this population as well.
Ophthalmologic and hearing exams are recommended every 2 years.
You notice that the 25 year old F patient with Down Syndrome is nodding off to sleep during the visit. When you awaken her and try to get her to get up on the exam table, she refuses.
What is your possible explanation for the daytime hypersomnolence and the fear/refusal to get up on the exam table?
obstructive sleep apnea is more common in persons with Down syndrome. It would be appropriate to consider a formal sleep study in this patient.
some individuals with Down syndrome have problems with spatial relations, including heights. Affected individuals may have a fear of getting up on exam tables, going up/down stairs, or stepping off of curbs.
Portions of the physical exam that warrant special attention on a patient with Down Syndrome
● General: obesity
● Head, eyes, ears, nose, and throat (HEENT): cerumen impaction, hearing impairment, chronic sinusitis, allergies, evidence of gastroesophageal reflux, cataracts, keratoconus, vision impairment, airway compromise
● Neck: thyromegaly, thyroid nodules, atlantoaxial subluxation
● Lungs: pneumonia
● Cardiovascular (CV): murmur, cardiomegaly, cyanosis
● Genitourinary (GU): males—testicular masses, cryptorchidism; females—if sexually active, standard Pap screening guidelines should be followed
● Extremities: arthritic changes, hallux valgus
● Neurological: cervical cord compression, nerve root compression, vertebrobasilar insufficiency, motor strength/weakness, ankle clonus
Which of the following tests should be obtained on all babies with suspected Down syndrome (trisomy 21) prior to being discharged from the hospital after birth?
A Brain MRI
B Video swallow evaluation
C Echocardiogram
D Bilateral hip ultrasound
C Echocardiogram
Newborns with Down syndrome should have an echocardiogram soon after birth as up to 50% of newborns with Down syndrome have a congenital heart defect. All newborns with Down syndrome should be assessed for swallowing function, as these infants are at increased risk of hypotonia which may affect feeding, but video swallow evaluation may be reserved for those infants who have feeding difficulties. Brain MRI and bilateral hip ultrasound are not recommended for routine screening for newborns with Down syndrome.
By what age should all children with Down syndrome (trisomy 21) be evaluated for obstructive sleep apnea?
A 4 years
B 10 years
C 14 years
D 18 years
A 4 years
Obstructive sleep apnea occurs in 50% to 79% of children with Down syndrome. All children with Down syndrome should be evaluated for obstructive sleep apnea with polysomnography by age 4 years old.
You are meeting a 45-year-old man with Down syndrome for the first time in clinic. He recently moved to town and has no history of congenital heart disease (confirmed by an echocardiogram 37 years ago) and recently saw an ophthalmologist for an annual eye exam. He wears hearing aids. It has been 3 years since he last had a physical exam or any lab work. Which of the following tests would be recommended at this time?
A Flexion/extension views of the C-spine
B Thyroid stimulating hormone (TSH)
C CBC
D Polysomnography
B Thyroid stimulating hormone (TSH)
Hypothyroidism is fairly common in persons with Down syndrome. Lifetime prevalence of thyroid disease (primarily autoimmune thyroid disease) in persons with Down syndrome ranges in the literature from 13% to 63%. Moreover, congenital hypothyroidism is over 25 times more common in infants with Down syndrome than in the general population.
For infants with Down syndrome, thyroid disease screening should occur at birth and again at 6 and 12 months of age. TSH should then be checked annually.
Although atlantoaxial subluxation is more common in persons with Down syndrome, there is no routine recommendation for screening for this condition (with C-spine flexion/extension films), although it may be required for persons participating in certain sports activities.
Acute leukemias (predominantly acute lymphocytic leukemia) are also more likely in persons with Down syndrome. However leukemias typically present earlier in life (within the first two years of life) and, therefore, routine screening with a CBC is not recommended for adults with Down syndrome.
Sleep apnea is commonly associated with Down syndrome, but routine screening for this condition is not recommended.
When to refer for developmental disabilities
Pos hx for an inherited d/o for which the child is at risk Exam findings/dysmorphic features Known inborn errors of metabolism Noted developmental growth Structured anomalies
Down Syndrome presentation
short stature, brachycephaly, midface hypoplasia w/ flat nsal bridge, brushfield spots, epicanthal folds w/ upslanting palperbral fissures, small mouth w/ protruding tongue, myopia/cataracts, small ears/narrow canals, extra skin at nape lax joints (atlantoaxial instability), short broad hands/feets/digits, single palmar crease, clinodactylyl, exaggerated space/plantar groove between great and 2nd toes
Down Syndrome pts at risk for
leukemia hypothyroidism Alzheimer's dx CHD autoimmune dx seizures hearing/vision loss behavioral problems ortho issues - Atlantoaxial subluxation neuropsychiatric d/o OSA celiac dx duodenal atresia
neurodevelopmental issues in Downs
intellectual disability
developmental delays
hearing loss
hypotonia
diagnosis of Down syndrome
can only be dx with karyotype
Down syndrome workup
initial - ECHO
TSH, CBC, hearing tests
Screenings for Downs
sleep study and neck xray at 3- 5 y.o.
evaluate for OSA by age 4
vision and hearing at 6 and 12 months, then annually
TSH
Turner Syndrome (XO)
females ONLY, (think TINA TURNER) missing X chromosome - monosomy
unlikely to be inherited; error in cell division: nondisjunction
wide variety of medical & developmental problems
Turner Syndrome presentation
short stature, short neck w/ webbing & low posterior hairline, posteriorly rotated ears, narrow canals, ptosis, short 4th/5th metacarpals, short legs, hyperconvex nails
cardiac d/o/heart defects, hip dysplasia, scoliosis, and/or kyphosis, horseshoe kidney, chronic OM w/ conductive hearing loss, delayed puberty/infertility, widely spaced nipples, poor boob development
normal IQ
nonverbal learning disabilities, hearing loss, strabismus (cross eyed)
Turner’s Syndrome diagnostics
screen pts w/ physically ocncerning features
karyotyping only definitive dx
Turner’s Syndrome management
Refer to endocrinology for tx
Start growth hormones before age 4
HRT - to stimulate puberty, breast development, uterine growth, & bone density
begin at ages 12- 14
start w/ estrogen then add progesterone 1-2 years later
Turner’s syndrome screenings
monitor growth - want them at least 5 ft
annual hearing exam
monitor osteopenia (Vit D, estrogen tx)
annual thyroid exam
monitor for scoliosis/kyphosis
Monitor for HLD, cardiac defects, renal anomalies, keloids
Klinefelter Syndrome (XXY)
extra copy of X chromosome
random error in cell division, effects MALES
not inherited
think femminine male
Klinefelter Syndrome presentation
puberty starts normal, less testosterone = slower = delayed
less testosterone = less muscle, hair & sexual interest/function
small testes/penis, infertility
cryptorchidism - undescended testes
gynecomastia
weaker bones
metabolic syndrome: DM, HTN, HLD, autoimmune d/o
Klinefelter syndrome neurodevelopmental symptoms
normal IQ mostly
15-85% language or learning problem - borderline IQ
delayed expressive language, shy, withdrawn, immature for age, ADHD
Klinefelter syndrome infancy presentation
hypotonia
delayed milestones
Klinefelter syndrome management
monitor growth/development, esp speech
scoliosis screening
annual thyroid screen
testosterone replacement tx: start at puberty, does NOT improve fertility
Fragile X
causes cognitive impairment, ranges from mild to severe
25% of all intellectual disabilities is x-linked, this is most common cause
abnormal gene w/ fragile site on lower end of long arm of X chromosome
X-linked dominant inheritance
changes in FMR1 gene
Fragile X dx
DNA FMR1 testing
ECHO r/o cardiac anomalies
when to screen for fragile X
high risk pop:
- intellectual disability of unknown etiology
- fam hx of intellectual disability
- autistic
females have milder phenotypic features r/t 2 X chromosomes
Fragile X management
audiologic exam annually for conductive hearing loss
orthopedic referral
monitor/manage behavioral problems
increased seizure risk
monitor/manage learning delay
ophthalmologic eval annually
Fragile X presentation
long & protruding ears
long, thin face w/ prominent jaw
epicanthal folds, high arched palate, increased head circumference
think everything is BIG
intellectual disability: males mild- severe IDD speech deficits attention deficits autistic-like behavior
Marfan Syndrome
mutations in FBN1 on chromosome 15
autosomal dominant
fibrilin-1 either dysfunctional or less abundant = low tissue elasticity & integrity
Marfan Syndrome presentation
usually not noticeable at birth
tall w/ long limbs
pectus deformities, joint hyper extensibility
aortic root dilatation
MVP & regurg
eyes: ectopic lentis, myopia, retinal detachment & lens dislocation, esotropia/strabismus
spontaneous pneumo, bulla
Marfan Syndrome dx
clinical features - aortic dz, dislocated lense, fam hx, FBN1 mutation
Marfan syndrome mgmt
fix ortho issues
annual eye exam - replace lens
surgical repair for wide aorta
cardiac meds
AVOID contact sports
Specific learning disorders (SLD)
neurodevelopmental d/o that causes learning & academic problems in early school years
lasts @ least 6 months, NOT caused by IDD, d/t factors such as economic or environment
ex. vision or hearing problems, neuro conditions, motor d/o
types of SLD
dyslexia
dysgraphia
dyscalculia
dyslexia
diff w/ word recognition, decoding, & spelling - diff writing
dysgraphia
diff in handwriting (forming letters, writing w/in a defined space)
dyscalculia
diff w/ learning math facts & performing calculations
Pediatric depression
major psychological problems can cause effects on growth/development, school, relationships
can influence long-term functioning: earlier it starts, longer it can continue into adulthood
leading cause of suicidal behavior and suicide in pediatrics
pedi depression
pedi depression RF
fam hx/genetics female other mental/behavior issues prior ep of depression psychosocial RF: childhood abuse, neglect, exposure to traumatic events, low SES
pedi depression presentation
somatic complaints, psychomotor agitation, mood-congruent hallucinations, school refusal
phobias/separation anxiety/increased worrying
low self- esteem, apathy, boredom
substance use, changes in wt, sleep or grades
psychomotor depression/hypersomnia
aggression/antisocial behavior, social withdrawal
depression S/S in infants/young children
poor attachment, loss of developmental skills
spitz’s work - kids in orphanges have no attachment, no consistent caregiver, dx FTT = loss in affect, apathy, & depression
depression S/S in toddlers/preschoolers
lack energy, too eager to please, clingy
seperation problems persistent, intense, sad, irritable mood
lack of pleasure in play, poor appetite & wt loss, sleep issues
regression & increased physical complaints, withdrawal & overall behavior problems
depression S/S school age
irritable, angry, hostile
externalized behavior: hyperactivity, reckless behavior, diff handling aggression
freq absences & school phobia, express feelings of sadness as reaction to external disappointments
disappointment with self, describe self in negative terms
loss of interest/pleasure in norm activities
depression S/S adolescents
low self-esteem, apathetic, bored, substance abuse, wt & sleep changes, psychomotor depression, hypersomnia, social withdrawal or antisocial
mood shifts
cognitive development allows more mature feelings of despair, blame & self-hate
MDD pedi DSM-5 dx
5 or more of the following present during the same 2-week period that represent change in functioning
@ least 1 of symptoms is depressed mood or loss of interest or pleasure:
- depressed/irritable mood
- diminished interest or pleasure in activities
- insomnia or hypersomnia
- psychomotor agitation or impairment
- fatigue or loss of energy
- feelings of worthlessness or guilt
- disturbed concentration or indecisiveness
- recurrent thoughts of death, SI, or suicide attempt
dysthymic disorder (pedi)
overwhelming, chronic state of depression
depressed mood for most days for at least 2 years; irritability
must not have gone more than 2 months w/o 2 or more of the following:
- low energy, low self-esteem, diff making decisions, feelings of hopelessness
- poor concentration, poor appetite or overeating, insomnia or hypersomnia
Pedi depression screening
adolescents 12-18 y.o.
USPSTF recc screening for MDD in this group
kids = 11 y.o. USTSTF insufficient evidence
screen with PHQ2 or PHQ9 or Beck depression inventory
pedi depression MGMT
SUICIDE RISK assessment
combo tx: meds, psychotherapy, social skills training, CBT
manage comorbidities
pedi depression pharm mgmt
SSRI = 1st line
adolescents w/ mod-severe = Fluoxetine alone or in combo w/ CBT
r/t efficacy & tolerance; few anticholinergic, sedative or cardiac effects
BBW: increased risk of SI & behavior up to age 26 - educate
pedi depression med titration
after initiating med, see every week for the 1st 2 weeks
Q 2weeks for a month
titrate every 3-4 weeks
once remission occurred - Q 3 months
continue med for 6-12 months
if coming off meds - titrate down over 1-2 months
Pedi GAD
cognitive & obsessive components
experiences excessive anxiety, worry & apprehension
not focused on specific person, situation, or recent stressor
worriers
separation anxiety disorder (SAD)
abnormal reaction to real impending, or imagined separation from major attachment figures, home, or familiar surroundings
normal developmental phenomenon starting around 9 months
result of poor attachments or interaction among physiologic, cognitive, & behavioral factors in response to life events that are threatening to safety or primary relationships
SAD RF
genetics: female more likely
temperamental disposition: very shy or inhibited
social or life dysfunction (parental distress/trauma)
environmental stress, parental dysfunction, maternal depression
GAD presentation (pedi)
worry about future events & or preoccupation w/ past behavior
poor sleep quality, unexplained fatigue
irritability & tantrums
overconcern about competence & preoccupied w/ performance
sign self-consciousness, unusual need for reassurance
restlessness, diff concentrating
somatic complaints w/o physical basis
comorbidity w/ anxiety d/o, ADHD, mood d/o
SAD presentation
developmentally inappropriate or excessive anxiety about separations
unrealistic worry about harm to self or loved ones, fears o abandonment
reluctance to sleep alone or away from home
social withdrawal during separations
persistent avoidance of being alone, nightmares of separation
physical complaints & sings of distress in anticipation of separation
pedi anxiety mgmt
behavior & family interventions
toddler: above & CBT, play therapy
younger school age: combo of CBT & fam interventions
older child: refer to pedi mental health; relaxation tech, CBT, mindfulness SSRIs - Sertraline & Fluoxetine SNRIs - Venlafaxine & duloxetine Buspirone NO BENZOS
Pedi PTSD DSM-5
exposure to trauma:
- witnessing or experiencing traumatic event resulting in risk of death or serious injury to oneself or loved on
- event resulted in fear, helplessness, recurrent distress, agitation, irritable behavior (latter 2 for kids < 6)
- symptoms caused increased arousal, excessive startle, altered mood & emotional response or intrusive thoughts or recurrent dreams & continued avoidance of reminders of trauma
- symptoms last @ least 1 month & causes sign impairments in social, cognitive, or school function
acute symptoms last < 3 months
chronic symptoms last > 3 months
PTSD pedi mgmt
refer to pedi behavioral specialist & report to social services agencies for kids < 18 who have witnessed or experienced violence
-psychotherapy w/ CBT
- meds not well supported
SSRIs for anxiety & depressive symptoms
BBs (propanolol) decrease somatic symptoms
PTSD clinical findings
requires these S/s ofr dx
- repeated re-expereinces set of symptoms from each of the 3 following categories:
- recurrent & intrusive memories of trauma
- nightmares of monsters or threats
- distress caused by cues that symbolize or resemble aspect of trauma - 3 of following symptoms, reflecting avoidance of stimuli assoc w/ trauma & numbing of gen. responsiveness. must have NOT been present before trauma
- avoidance of reminders of trauma
- efforts to avoid thoughts, feelings, or conversations linked
- amnesia for an important aspect of trauma
- detachment or estrangement from others
- emotional constriction
- dim. interest or participation in usual activities
- sense of foreshortened future - 2 persistent symptoms of increased arousal must be new, presents @ least 1 month and cause distress or negatively affect functioning:
- sleep disturbances
- hyperviligance
- diff concentrating
- exaggerated startle response
- agitated or disorganized behavior
- irritability or angry outbursts, extreme fussiness or tantrums
bipolar pedi mgmt
refer to child behavioral provider CRITICAL
mood stabilizers - lithium alone or in combo w/ anti seizures (valproate) & atypical antipsychotics (risperidone)
combo meds, individual & fam psychotherapy
OCD pedi mgmt
tx should center on degree of child impairment
mild- mod = CBT 1st line
mod- severe = SSRIs
fail CBT w/ increasing severity during tx w/ S/s of psychosis & or SI who fail to respond to SSRI = emergent referral to child behavioral health provider
highest risk of suicide in pedi
first 4 weeks of episode
1st week to month of tx w/ SSRI where energy level increases, but feelings have not receded
SSRIs in pedi
first line in depression
AVOID paroxetine (high risk SI)
assess suicide risk 1-2 weeks, 2-3 wks until remission
never use alone, use w/ CBT
adolescent suicide
2nd leading cause of death ages 15- 34 y.o.
males 15-19 4x more likely to commit suicide than females
females 2x more likely to attempt
3rd leading cause of death in 10-14 y.o.
when to hospitalize for suicide pedi
ID plan w/ assess to lethal means
hx prior attempt
presence of conditions that impair judgement
questions of safety at home
suicide warning signs
obsession w/ death poems/essays focusing on death dramatic changes in appearance threats guilt/shame/reflection making amends changes in eating/sleeping giving away personal items drop in grades
most common childhood mental health problem
ADHD
ADHD dx
observed in @ least 2 settings w/ clear evidence of clinical impairment in social academic or occupational functioning x 6 months
6 of 9 behaviors in hyperactive/impulse domain and/or inattentive domain
Impulsive symptoms:
- fidgets
- leaves seat in class/situations where sitting expected
- runs about/climbs excessively inappropriately
- diff playing quiet
- often on the go
- talks excessively
- blurts out answers before question completed
- diff awaiting turn
- interrupts others
Inattention symptoms:
- diff sustaining attention and makes careless mistakes
- does not give close attention to details
- does not seem to listen, forgetful in daily activities
- does not follow through
- avoids engaging in tasks requiring sustained mental effort (HW)
- often loses necessary things (toys, pencil, books, etc)
presence by hx prior to 12 y.o.
significant impairment in social/learning
single most important RF for suicide
previous suicide attempt
ADHD dx criteria differences
17 y.o. or older present w/ 5 symptoms, broader symptoms, evidence of symptoms BEFORE 12 y.o.
6 y.o. or less: 6 S/s from either or both inattention/impulsive
ADHD/substance use
youth w. ADHD 2x more at risk fo substance abuse
earlier age of substance use
ADHD mgmt
manage symptoms
nonpharm & meds
calm parenting very successful
Methylephenidate & amphetamines 1st line
behavior therapy = 1st line preschoolers (< 6 y.o)
meds FDA approved for 6 y.o. and older
FDA approved stimulant < 3 y.o. Adderall
eating disorder RF
female atheltes middle - high SES divorced parents chronic dx recent wt loss in obese person personality d/o strong will hx child abuse
DSM 5 criteria anorexia nevosa
requires each of the following:
• Restriction of energy intake that leads to a low body weight, given the patients’ age, sex, developmental trajectory, and physical health
• Intense fear of gaining weight or becoming fat, or persistent behavior that prevents weight gain, despite being underweight
• Distorted perception of body weight and shape, undue influence of weight and shape on self-worth, or denial of the medical seriousness of one’s low body weight
DSM 5 criteria for bulimia nervosa
Recurrent episodes of both binge eating and inappropriate compensatory behavior to prevent weight gain
Occurs at least once per week for three months, on average
eating disorders complications
can be life-threatening d/t medical complications & suicide
hypotension cardiac structrual changes bradycardia hypothermia amenorrhea suicide gastroparesis elevated LFTs constipation.diarrhea dehydrations cytopenias brain atrophy
eating disorder labs
electrolyes BUN, Cr serum glucose albumin & prealbumin LFTs INR CBC w/ diff FSH & LH pregnancy test Vit D testosterone UA ECG
refeeding syndrome
clinical complications that can result from fluid and electrolyte shifts during aggressive nutritional rehabilitation in eating disorders
These complications are potentially fatal if not detected or treated early
confusion, irritability, organ dysfunction, & seizures
eating disorders mgmt
team approach: mental health, RD, & PCP
psychotherapy
nutritional support/rehab
inpatient or outpatient
PCP role in eating disorders
early ID
refer mental health
assess medical complications
monitor VS stability, lytes, hydration status, bone density, menstruation, growth issues
refeeding wt gain
1.1 lbs/week
AN meds
SSRIs 1st line
BN meds
SSRIs 1st line
EXCEPT bupropion
how early can autism be dx?
as young as 12 months if parents & providers are alert or if severe
diff to dx before 9 months old bc language skills just developing
autism DSM-5 criteria
Persistent deficits in social communication & social interaction in multiple settings**
- Demonstrated by deficits in all 3 of the following (either currently or by history):
- Social-emotional reciprocity (e.g., failure of back-and-forth conversation; reduced sharing of interests, emotions)
- Nonverbal communicative (ex., poorly integrated verbal & nonverbal communication; abnormal eye contact or body language; poor understanding of gestures)
- Developing, maintaining, & understanding relationships (ex difficulty adjusting behavior to social setting; difficulty making friends; lack of interest in peers) - Restricted, repetitive patterns of behavior, interests, or activities**
Demonstrated by 2 or more of the following (either currently or by history):
- Stereotyped or repetitive movements, use of objects, or speech (ex, stereotypes, echolalia, etc.)
- Insistence on sameness, unwavering adherence to routines, or ritualized patterns of behavior (verbal or nonverbal) - The symptoms must impair function
- The symptoms must be present in the early developmental period
- The symptoms are not better explained by intellectual disability or global developmental delay
autism mgmt
early dx & referral
prognosis favorable if ID’ed under 5 y.o.
early intervention
education/school therapies
GI/nutrition concerns: food allergies, costipation, GERD, abd pain, bloating
PT, OT, SLP
social skills training
medication: target symptoms experiencing
PCP role in autism
early screening
AAP: developmental screening during well-child checks: 9, 18, 24, or 30 months
M-CHAT: 16- 30 months, quick
autism red flags
- no babbling by 12 months
- no pointing or other gestures by 12 months (waving bye)
- no single words by 16months
- no two word spontaneous utterances by 24 months
- loss of any language or social skill at any age
the NP is evaluating a 16 y.o. F for fatigue and HA. The pt is wearing multiple layers of clothing and her hair is limp and dry. Upon exam, the NP finds the patient’s skin to have a yellow cast and fine, downy hair. Which dx is most likely?
A. alopecia
B. anorexia nervosa
C. bulimia
D. amenorrhea
B. anorexia nervosa
Anorexia usually has an onset during adolescence and is characterized by irrational preoccupation with weight gain that presents with a distorted perception of body weight and size. It is characterized by marked weight loss (BMI < 18.5), lanugo, thinning hair, and general poor health, as the body is depleted of vital nutrients. Amenorrhea is a common symptoms in young females. Purging, alopecia, and use of laxatives may be involved in the restriction of food intake, but based on the assessment data it is not the primary dx.
the NP is completing a health assessment on a 15 y.o. F pt who is in the office for her annual physical. The pt reports feelings of hopelessness and sadness for several months, no hx of SI, and struggle with anorexia. The pt scores an 11 on Beck’s Depression Inventory. The NP will prescribe:
A. Sertraline (Zoloft)
B. Lithium
C. Bupropion (Wellbutrin)
D. Escitalopram (Lexapro)
D. Escitalopram (Lexapro)
Escitalopram (Lexapro) is a safe antidepressant for an adolescent who has severe depression and no hx of SI.
Sertraline is not a safe option for pts < 24 y.o. d/t increased risk of SI
Wellbutrin is an atypical antidepressant and is not 1st line for depression. It is contraindicated in pts w/ anorexia nervosa
Lithium is a mood stabilizer for bipolar dx
WHAT MEDICATIONS ARE FIRST LINE FOR ANOREXIA AND BULIMIA?
SSRIS
WHICH EATING DISORDER REQUIRES THE PATIENT’S BMI TO BE < 18.5?
anorexia nervosa
A 12 YEAR OLD MALE PATIENT WITH AN INTELLECTUAL DISABILITY PRESENTS FOR A WELL CHILD CHECK UP. THE PATIENT HAS LARGE EARS, LARGE FACE AND JAW. WHAT GENETIC DISORDER COULD THIS PATIENT POSSIBLY HAVE?
FRAGILE X, FMR1 GENE UNABLE TO PRODUCE FMRP WHICH IS NEEDED FOR GROWTH AND DEVELOPMENT.
WHAT IS THE DIAGNOSTIC CRITERIA FOR ADHD IN CHILDREN?
NEEDS TO PRESENT BEFORE THE AGE OF 17 YEARS OLD, HAVE 6 OR MORE SYMPTOMS OF HYPERACTIVITY OR INATTENTION IN 2 SETTINGS FOR 6 MONTHS OR LONGER
WHAT ARE THE THREE MAJOR UMBRELLAS PATIENTS WITH AUTISM MUST BE UNDER REGARDING SIGNS AND SYMPTOMS?
COMMUNICATION, SOCIAL BEHAVIOR, REPETITIVE BEHAVIOR
WHAT ARE SOME SCREENING TOOLS PROVIDERS COULD USE TO SCREEN FOR ADHD?
VANDERBILT, CONNORS, SCHOOL REPORTS, MENTAL HEALTH TESTING.
