Exam 2 Review Flashcards
1
Q
Primary care monitoring of a Down Syndrome patient includes: assessing for -1- and referring to ophthalmology if necessary; following up on -2- screens if results were abnormal or inconclusive; drawing a -3- and a thyroid panel (to assess for hypothyroidism) -4-; closely assessing -5-
A
- cataracts
- newborn/previous hearing
- CBC (leukemia)
- annually
- growth
2
Q
Primary care monitoring of a Down Syndrome patient includes: assessing for -1- via X-ray and cardiac -2- before approving them for -3-. -1- x-rays are also recommended if -4- arise, but otherwise not routinely.
A
- atlantoaxial instability (instability of the first & second vertebrae)
- dysrhythmias (EKG)
- sports
- distal neural symptoms
3
Q
Diagnosis is rarely made before puberty.
Key findings include microorchidism; lack of libido; minimal facial hair; and tall, eunuchoid build.
IQ can vary (normal to borderline with a small percentage showing cognitive disabilities).
A
Klinefelter Syndrome (XXY)
4
Q
What do you give a patient having an epileptic seizure (emergent)?
A
Diazepam (rectal)
5
Q
People with -1- have a higher rate of depression
and anxiety disorders than the general population
Depression and anxiety are often overlooked in
children with -1- because children
may not show the same symptoms as adults.
A
Anticipatory guidance for 1. seizure disorders/epilepsy
6
Q
Some -1- can have negative effects on mood
and contribute to feelings of -2-, -3-, -4-, and -5-.
A
Anticipatory guidance for 1. Anti-Epilepsy Drugs (AEDs)
- depression
- anxiety
- irritability
- frustration
7
Q
Counseling regarding -1- and -2- should be provided to all families whose child has been diagnosed as having a seizure disorder, and, ideally, this education should be extended to all -3-
A
- seizure safety
- first aid
- caregivers
8
Q
Generally, it is advised to call emergency medical services for seizures that persist -1- minutes if no -2- is available or for seizures that persist for -1- minutes -3- is administered.
A
- longer than 5
- home rescue medication
- after rescue medication
9
Q
Seizure AG: Although some -1- are required for safety reasons, -2- should be avoided because they negatively affect -3- and self-esteem.
A
- activity restrictions
- excessive limitations
- peer interactions
10
Q
The first level of classification is the seizure -1-, which is divided into focal, -2- and unknown onset. A seizure is considered -2- in onset if it -3- networks from onset and focal if it -4- region or hemisphere.
A
- type
- generalized,
- engages bilateral brain
- begins in 1
11
Q
-1- seizures can be further classified into motor or -2-. -3- are further subdivided into 1) whether they are associated with -4- and 2) whether they are associated with -5- or nonmotor (behavior arrest, cognitive, emotional, sensory, or autonomic features) symptoms.
A
- Generalized onset
- nonmotor (absence) onset
- Focal seizures
- impaired awareness
- motor (tonic, clonic, atonic, or myoclonic activity)
12
Q
Focal seizures may evolve to -1- activity, and, thus, in any child with a -2- seizure, it is imperative to ask about any -3- suggestive of an aura.
A
- bilateral convulsive
- generalized tonic clonic
- premonitory symptoms
13
Q
Most common cause of status epilepticus
A
lapse in medication
14
Q
Inheritence pattern of:
Hemophilia, DMD, G6PD
A
X-linked recessive
15
Q
Inheritence pattern of:
Achondroplasia, hypercholesterolemia, holoproencephaly, Huntington, Marfan, myotonic dystrophy, NF I, Osteogenesis Imperfecta, polycystic kidney disease
A
Autosomal dominant
16
Q
Inheritence pattern of:
CF, Gaucher’s syndrome, hemochromatosis, PKU, Tay-Sachs, thalassemias, xeroderma pigmentosum
A
Autosomal recessive
17
Q
Inheritence pattern of:
Fragile X syndrome
A
X-linked dominant
18
Q
Inheritence pattern of:
Klinefelter, Down, and Turner syndromes
A
Misomy
19
Q
Inheritence pattern of:
Myoclonic epilepsy with ragged-red fibers (MERRF)
A
Maternal (mitochondrial)
20
Q
• Inheritance of single copy of mutated gene
• Passed on from only one parent, but results in genetic disorder
• Donating parent has disorder
Risk for inheriting is 50% for each child
A
Autosomal dominant
21
Q
• Requires inheritance of two copies of mutated gene; one from each parent
• Offspring with only one copy are carriers
• Carriers may pass genes to children, but are themselves unaffected
• Risk for inheriting is 25% for each child, 50% risk for being a carrier; 25% risk of being
unaffected
A
Autosomal recessive
22
Q
- Single abnormal gene causes disease
- If father affected and mother not, all female offspring will inherit disease
- If mother affected and father not, 50% chance that each daughter/son will inherit
A
X-linked dominant
23
Q
- Single abnormal gene causes disease
- If father affected and mother not, all female offspring will be carriers
- If mother affected and father not, 50% chance that daughters will be carriers or sons will inherit
A
X-linked recessive
24
Q
Causes intellectual disability, behavioral and learning challenges, and various physical characteristics
Physical features include:
Facial: Large ears, Long face. Prominent jaw
Connective tissue: flat feet, high arched palate, double jointed fingers and hyper-flexible joints
Strabismus
Low muscle tone
Macroorchidism (post-pubertal)
A
Fragile X Syndrome
25
The classic phenotype includes severe intellectual disability with prognathism, seizures, and marked delay in motor milestones, abnormal gait and posturing, poor language development, autism, and paroxysmal laughter and tongue thrusting.
Angelman Syndrome
26
The association of macrosomia (enlarged body size), macroglossia (enlarged tongue), and omphalocele constitutes the -1-, now known to be related to abnormal expression of imprinted genes located on chromosome 11p15.
1. Beckwith-Wiedemann syndrome (BWS)
27
Webbed neck, triangular facies, short stature, wide-set nipples, amenorrhea, and absence of secondary sex characteristics.
Associated with coarctation of the aorta and genitourinary malformations.
IQ is usually normal but learning disabilities are common.
Mosaic individuals may manifest only short stature and amenorrhea.
Turner Syndrome (Monosomy X)
28
More than 80% of patients with Noonan Syndrome (NS) have an abnormality of the -1-. -3- is the most
common and is often associated with an -4-.
Isolated -4-s and -5- defects are also relatively
common.
-2- is present in ~20% of patients with NS overall but is particularly frequent with RAF1 mutations and it is variable in severity and natural history.
1. cardiovascular system
2. Hypertrophic Cardiomyopathy
3. Pulmonary Valve Stenosis (PVS)
4. Atrial Septal Defect (ASD)
5. partial atrioventricular canal
29
Facial and musculoskeletal features most often lead to the diagnosis of -1-. The facial appearance is most characteristic in infancy (Fig 1) and early- to middle-childhood and becomes more subtle in adulthood.
Hair may be wispy in the toddler, whereas it is often curly or wooly in the older child and adolescent.
A characteristic pectus deformity of the chest with pectus carinatum superiorly and pectus excavatum inferiorly is seen in most individuals.
Disordered bleeding has been reported for 30% to 65% of individuals with -1-.
Most people with -1- have normal intelligence, but 10% to 40% require special education
Children with -1- have a higher rate of clumsiness, poor coordination, stubbornness, and irritability.
1. Noonan Syndrome
30
Less commonly, factors IX and II have also been reported to be -2- in patients with NS and can contribute to -3-.
Both -1- and -4- have also been described in patients with NS.
1. thrombocytopenia
2. deficient
3. bleeding risk.
4. platelet dysfunction
31
Arthritis and fever (≥2 weeks, documented quotidian x 3+ days) Plus 1 or more: 1) Evanescent erythematous rash, 2) Generalized lymphadenopathy, 3) Hepatosplenomegaly, 4) Serositis
Systemic-onset JIA (SJIA)
32
Arthritis ≥5 joints during the first 6 months of disease
Polyarticular JIA (PJIA)
33
Arthritis ≤4 joints during the first 6 months of disease; 2 subtypes are identified:
Persistent - affecting no more than 4 joints
Extended - affecting a total of >4 joints after the first 6 months of disease
Oligoarticular JIA (OJIA)
34
Inflamed, painful, and stiff joints OR
Inflamed or painful and stiff joints plus 2 of: 1) Sacroiliac joint tenderness or inflammatory lumbosacral pain; 2) HLA-B27+; 3) Onset of joint inflammation in a male older than 6 years of age; 4) Acute anterior uveitis; 5) History of ankylosing spondylitis, -1-, sacroiliitis with inflammatory bowel disease, reactive arthritis, or acute anterior uveitis in first-degree relative
1. Enthesitis-related arthritis (ERA)
35
Arthritis and red, itchy scaly patches, most commonly on the knees, elbows, trunk and scalp
or
Arthritis plus 2 of: 1) Dactylitis, 2) Nail pitting or onycholysis, 3) red, itchy scaly patches, most commonly on the knees, elbows, trunk and scalp in a first-degree relative
Psoriatic arthritis (PsA)
36
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Management of JIA depends on the number of joints involved and presence of systemic features and includes anti-inflammatory therapies such as:
• -1-
• -2-
• -3-
• -4-
```
1. Nonsteroidal anti-inflammatory drugs (NSAIDS)
2. Corticosteroids (oral, intravenous, or intraarticular)
3. Methotrexate (disease-modifying antirheumatic drug)
4. Biologic agents (the -mabs)
37
First test(s) when SLE is suspected
ANA
| +CBC, ESR, CRP, metabolic screen & UA
38
Fever, fatigue, weight loss, arthritis or joint
pain. “Butterfly” rash across the cheeks and the
bridge of the nose or other rashes may occur. Other
symptoms include mouth or nose sores, seizures or
other nervous system problems, or bleeding/bruising issues.
SLE
39
Characterised by skin lesions which can present at up to 6 weeks of life or later
-1-, or small focal red macules and papules created by abnormally prominent capillaries, venules, and arterioles
-2-, or a congenital persistent, reticulated, violaceous pigmentation of blueviolet
Anemia, neutropenia, transient thrombocytopenia
Neonatal Lupus (NL)
1. Telangiectasia (marker of connective tissue disease)
2. Cutis marmorata telangiectasia congenitalis (CMTC)
40
AG for Juvenile SLE
Sun protection (worsens symptoms during a flare-up)
Adult SLE is not a contraindication for breastfeeding whether or not the child also has SLE
Remission is possible
Need to take regular Renal Panels, as SLE is dangerous for the kidneys over other systems
41
```
>95% -- no symptoms since -1- T4
crosses the -2-
• Normal weight and length
– Open posterior fontanelle
• Classic signs and symptoms:
– Lethargy, low tone/decreased DTRs
– Macroglossia
– Hypothermia
– Umbilical hernia
– Prolonged jaundice
```
Congenital Hypothyroidism
1. maternal
2. placenta
42
Disturbed sleep, fatigue
Tremors
Tachy, palpitations, widened pulse pressure
Menstrual irregularities, weight loss, emotional lability, upper percentiles in height
Behavioral issues, deterioration in school
Goiter
Juvenile Hyperthyroidism
43
• Autoimmune disease through
– TSH
– Thyrotropin receptor antibodies (TSHrAb)
Positive TSI (Thyroid Stimulating Immunoglobulin)
Graves' disease (autoimmune hyperthyroidism)
44
Labs and results for:
1. Congenital vs.
2. Acquired Hypothyroidism
3. Graves' Disease
1. TSH (low), Free T4 (high), T3 (low)
2. TSH (high), Free T4 (low), T3 (low)
3. TSH (low), Free T4 (high), T3 (high)
45
Therapy/AG for Hypothyroidism
```
levothyroxine
No grapefruit juice
Full glass of water
No food 30 min before or after
No milk-protein formula to mix (soy only)
```
46
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Chorioamnionitis (maternal infection)
Maternal disorders of clotting (eg, factor V Leiden deficiency)
Birth weight < 2000 g
Intracranial hemorrhage
Newborn encephalopathy (recurrent seizures, hypotonia, coma)
Periventricular leukomalacia
Hydrocephalus
Congenital malformations
```
Perinatal factors associated with the occurrence of CP
47
Although neurologic findings in CP might change during infancy; e.g., a -1- who develops -2- by -3- of age; the brain lesion in CP is nonprogressive
1. floppy neonate
2. spasticity
3. 6 months
48
Risk factors for spina bifida
Maternal folate deficiency (develops at 4 weeks, should be taking multivitamin if *considering* pregnancy)
Maternal alcohol consumption
49
Sacral dimple/hair tuft is indicative of...
tether cord
50
An absent anal wink is indicative of
Decreased neural response as a result of
Myelomeningocele (will be repaired if seen in primary care)
or
Spina Bifida (also repaired)
51
The ADA and the International Society of Pediatric and Adolescent Diabetes recommend testing any youth who is -1- beginning at -2- and/or -3-, whichever is earlier, and who has 1 or more of the following additional risk factors: 1) history of -4- or preexisting diabetes mellitus -5-, ...
1. overweight (defined as a BMI ≥85th percentile for age and sex) or obese (BMI ≥95th percentile for age and sex)
2. age 10 years
3. puberty onset
4. maternal gestational
5. during the pregnancy
52
The ADA and the International Society of Pediatric and Adolescent Diabetes recommend testing any youth who is overweight (defined as a BMI ≥85th percentile for age and sex) or obese (BMI ≥95th percentile for age and sex) beginning at age 10 years and/or puberty onset, whichever is earlier, and who has 1 or more of the following additional risk factors (8)(9):...2) history of being -1- age, 3) member of a high-risk -2- group, 4) family history of T2D in a -3- degree relative, 5) signs of -4-, and 6) previously diagnosed as having a condition -5-
1. small for gestational
2. racial or ethnic (Asian, Native American, Pacific Islander, Hispanic, or African ancestry)
3. first- or second-
4. IR (usually acanthosis nigricans)
5. associated with IR (including central adiposity, polycystic ovary syndrome, dyslipidemia, or hypertension).
53
1. Signs and symptoms of -1- in association with a random blood sugar >/=200 mg/dl (laboratory value, NOT finger stick)
2. Fasting blood sugar on 2 occasions > 126 mg/dl
3. Oral glucose tolerance test : 2 hour post prandial blood sugar after consumption of 75 grams carbohydrate >/= 200 mg/dl
4. Hb A1c >/= 6.5 % (3 month average blood sugar @ 140 mg/dl)
Diagnostic criteria for T1D
| 1. diabetes
54
Diabetes with rapid onset, polyuria, polydipsia, weight loss. Higher risk of DKA, thin phenotype. Treated with insulin. Present younger. Strong genetic component.
T1D
55
Diabetes with gradual onset, obese phenotype with evidence of insulin resistance (acanthosis nigricans), possible weight loss, may present with ketones and DKA, no autoimmunity, frequently positive family history, positive metabolic syndrome. Treated with Metformin and insulin if necessary. Present older.
T2D
56
Nausea, vomiting, abdominal pain; dehydration; fever (sometimes followed by hypothermia); weakness; hypoglycemia; hypotension and circulatory collapse; confusion and coma.
Acute Adrenal Insufficiency (Adrenal Crisis)
57
Fatigue, hypotension, weakness, weight loss or failure to gain weight, vomiting and dehydration, recurrent hypoglycemia.
Chronic Adrenal Insufficiency
58
Adrenal Insufficiency Treatment
Acute: hydrocortisone, fluids & electrolytes, fludrocortisone
Chronic: gluco- and mineralocorticoids, salt
59
Progressive generalized weakness; may have met developmental milestones previously; waddling gait, Gower sign (toddlers and up); lordosis and respiratory compromise as they age. X-linked recessive
Muscular dystrophy
60
Celiac Diagnostics
Labs: STOOLS - May have partially digested fat or be acidic
HYPOALBUMINEMIA - Can be severe enough to lead to edema.
ANEMIA - Low MCV and evidence of iron deficiency is common.
61
-1- is an immune-mediated enteropathy triggered by gluten, a protein in wheat, rye, and barley.
Risk factors include type 1 diabetes (4%–10%), Down syndrome (5%–12%), Turner syndrome (4%–8%), IgA deficiency (2%–8%), autoimmune thyroiditis (8%), and family history of -1- (5%–10%).
1. Celiac disease (CD)
62
In the -2- of -1-, GI symptoms begin soon after gluten-containing foods are introduced in the diet, between 6 and 24 months of age.
1. Celiac disease
| 2. classic form
63
... may present with delayed puberty or short stature, and females with delayed menarche. The benefit of early screening and treatment in asymptomatic individuals is unclear.
Adolescents with Celiac disease
64
Patients over -1- who are suspected of celiac disease should be screened with -2- and -3-, which is highly -4-. The gold standard, however, is a duodenal biopsy.
1. 2 years old
2. serum IgA
3. tissue transglutaminase (TTG) IgA
4. sensitive and specific
65
Treatment of Celiac disease is strict -1- for life. All sources of wheat, rye, and -2-. Most, but not all, patients tolerate -3- as long as the manufacturer takes precautions to -4- in processing.
1. dietary gluten restriction
2. barley are eliminated
3. oats
4. avoid cross-contamination
Opt for Corn instead!
66
Skin rash in an adolescent with Celiac disease is likely
dermatitis herpetiformis (Duhring disease)
67
GI bleeding, inflammation, and erosion
FTT
Typically presents in adolescence
Crohn's
68
Headache, Nausea/Vomiting, and Gait Imbalance
The pediatric brain tumor presentation triad
69
Anemia
•Pallor, fatigue, dyspnea on exertion, headache, dizziness, and near syncope
Thrombocytopenia
•Bruising and petechiae
•Serious bleeding is rare
Neutropenia
•Infection or sepsis at diagnosis is uncommon
Pediatric Leukemia
70
```
Fever
Expansion of the bone marrow cavity
•Bone pain
•Limp
•Refusal to walk
Back pain
```
Pediatric Leukemia
71
Lymphadenopathy
Hepatomegaly
Splenomegaly
Kidney lesions or infiltration
Testicular disease occurs in approximately 2% of children with -1-
• Nodule or enlargement
• Testicular exam required with any new diagnosis
Pediatric Leukemia
| 1. ALL
72
```
CNS -4- can be seen in both -1- and -2-
• More common in -1-, especially -3- -1-
• Headache
• Seizure
• Visual changes
• Cranial nerve abnormalities
• Mental status change
• Asymptomatic
Anterior Mediastinal Mass (-3- -1-)
• Chest pain, shortness of breath, dyspnea on exertion
```
1. ALL
2. AML
3. T-cell disease
4. leukemia
73
The most common presenting
symptom of -1- is an asymptomatic abdominal
mass found by a parent or pediatrician.
Approximately 40% of patients present with concomitant abdominal pain and 25% of patients develop hypertension.
1. Wilms Tumor
74
-1- is the most common malignant bone tumor in children and adolescents and accounts for 2.8% of all pediatric cancers. The most common presenting symptom is pain with or without a visible enlarging mass.
1. Osteosarcoma (OS)
75
-2-, the second most common malignant bone tumor in children and adolescents, accounts for approximately 1.9% of all pediatric cancers. The median age at diagnosis is 15 years, and most patients are diagnosed between ages 12 and 18 years. Approximately 20% of -2- arise in extraosseous locations. Patients with -2-often present with pain to the affected area with or without a palpable mass.
2. Ewing sarcoma (EWS)
76
Tumor of the soft tissue
Rhabdomyosarcoma
77
Singular or otherwise focal masses found in the middle mediastinum (shortness of breath, shifted trachea) or cervical region are likely to be -1-; however, sometimes abdominal solid tumors such as -2- can metastasize to middle mediastinal -3-.
1. lymphoma
2. neuroblastoma and rhabdomyosarcoma
3. lymph nodes
78
Common side effects of radiation include...
...fatigue, anorexia, skin dryness or itching
79
* -1- are characterized by fear, worry, or dread that greatly impairs the ability to function normally and that is disproportionate to the circumstances at hand.
* -1- often emerge during childhood and adolescence.
* At some point during childhood, about 10 to 15% of children experience -1-
* Children with an -1- have an increased risk of depressive and -1-s later in life.
* -1- may result in physical symptoms.
* Diagnosis is clinical.
* Treatment is with behavioral therapy and drugs, usually SSRIs
1. Anxiety Disorder(s)
80
Clinicians who manage MDD should develop an ... for handling increased suicidality or acute crises.
emergency communication mechanism
