Pediatric Chronic Illness, Cardiac, Neuro Illnesses Flashcards

Question

Transition Process of CYSHCN * Starting as early as age \_\_ * S\_\_\_\_-care skills * Pediatric to Adult health care arena * Letting go * Parents * Youth * P\_\_\_\_\_ providers * PNP as point person * Taking on * Identifying providers who can manage special needs patients

Answer 1

* Starting as early as age 12 * Self-care skills * Pediatric to Adult health care arena * Letting go * Parents * Youth * Pediatric providers * PNP as point person * Taking on * Identifying providers who can manage special needs patients

Answer 2

* Some patients retain their primary care physician as their medical home while others utilize the Complex Care Team as their medical home * Where PCP relationship is retained, Complex Care Team operates as in Consultative Model * As in the Consultative Model, the Complex Care Team consults with PCPs and specialists to support care planning, and rounds on inpatients

Answer 3

* Patients retain relationship with their primary care physician as the medical home * The PCP based medical home provides all essential routine and well-care services and supports the **coordination of care for specialty and chronic care needs** * Complex Care Team **consults with the PCPs to support care planning, coordinate complex medical needs and support transitions** across care settings * Complex Care Team **rounds on patients when admitted to the hospital to support coordination of care and communication** among specialists and PCPs

Answer 4

* 1975: The education for all Handicapped Children Act (PL 94-142) * Free and appropriate public education (FAPE) * Least restrictive environment * IEP or individualized Education Program * Special education and related services * Due process and procedure for complaints

Answer 5

* Part C: **Focuses on children under 3** * **Early** Intervention * Individualized family service plan * Parent is primary decision maker * Reviewed every 6 months * Focuses on children over 3 preschool disabled * Child Find * Free and appropriate education in the least restrictive environment * Individualized educational plan * School is primary decision maker * Annual review

Answer 6

* Banned discrimination based on disability for employment, education, housing, and access to society * Prohibits denial of public education in the least restrictive environment of a disabled child * Children with conditions not listed under IDEA can get protection/assistance under 504 * Reasonable accommodations for people with disabilities

Answer 7

* IDEA is an entitlement Act * Section 504 of Rehabilitation Act of 1973 is a civil rights act

Answer 8

* Provides financial assistance to children with disabilities * Social security administration evaluates children under 18 year with disabilities and limited income or resources or household with limited income or resources * Disabilities determination Team * Disability evaluation specialist and medical or psychological consultant * Can request exam * Must last at least 12 months or result in child’s death

Answer 9

* Provides a variety of supports, * Monetary assistance, to parents so that they could hire trained care providers to receive periods of rest (respite). * Respite * One of the most important supports necessary to continue to care for a CSHCN or CMC at home.

Answer 10

**American with Disabilities Act of 1990 (ADA)**

Answer 11

**Title V Block Grant to States**

Answer 12

* Starting as early as age 12 * Self-care skills § Pediatric to Adult health care arena * Letting go * Parents * Youth * Pediatric providers * NP as point person * Taking on * Identifying providers who can manage CHC or CSHCN

Answer 13

* Transition checklists * Self-care skills * Acquisitions * Deficits * Identifying adult specialty providers * Coordination

Answer 14

* 3 year, 10-month-old LatinX male came establish care after recently moving into the state. * The mother is nice but is slow to give a history * They live 45 miles from the clinic * She reports that the child has bilateral profound sensorineural hearing loss - cochlear implants in place. * Referred to early intervention at 18 months for speech impairment, but has not utilized a speech therapist in six months due to moving. * Pregnancy was complicated by placenta previa and six weeks of bed rest leading to planned C-section at 36 weeks * Failed newborn screen for hearing

Answer 15

1. **Refer for a repeat test before one month** 2. Refer for a repeat test before three months 3. Refer for a repeat test by 6 months 4. Reassure

Answer 16

* Average: 2 to 3 newborns per 1,000 will have a congenital hearing loss * In the United States, 8,000 to 12,000 infants are born with congenital hearing loss annually. * Represents 20 to 30 cases per day. * Recent studies suggest that 25%- 35% of children with unilateral hearing loss are at risk for failing a grade in school * These children may be distractible or have a limited attention span. * They may also have problems following directions or show signs of fatigue as the school day progresses * Up to 50% or more infants who do not pass initial screening are lost to follow-up.

Answer 17

If a newborn does not pass their in-hospital newborn hearing screen, the APRN should assure that the baby is rescreened ***before one month of age\*\**** * Hospital based facility or audiologist with pediatric specialty * Give guidance to obtain timely follow-up. * *Never* a reason not to retest an infant who does not pass their newborn hearing screen. * Providing written information to parents and assisting in making the appointment can be helpful. * Phone follow-up is important. * Results of this follow up rescreen should be confirmed with the state EHDI program

Answer 18

**Amplification fitting should proceed as soon as the hearing loss is confirmed even when the audiological evaluation is ongoing.**

Answer 19

* Provide universal **screening** by **1 month** of age * Follow-up audiologic **diagnostic assessment by 3 months** of age * Initiation of or referral for appropriate **early intervention by 6 months**

Answer 20

* If hearing loss is confirmed, medical and ENT evaluation should be done, and HEARING AIDS should be fitted if desired. * Information should be confirmed with the state EHDI program and referral to Early Intervention is essential. * This should be done *by three months* of age.

Answer 21

Even mild to moderate hearing loss, in the absence of appropriate intervention can interfere with neurological foundations for language learning. Active brain development occurs in the first year of life.

Answer 22

* Adept Language Learners * Research documents that 6- to 8-month-olds learning English can successfully discriminate contrasts in a language never heard (e.g.. Hindi). * By 10 to 12 months, they can no longer do so, and are sensitive only to English contrasts. * Newborn Hearing Screening * Untreated Hearing Loss * Quality of Life * Delayed in Onset of Canonical Babble

Answer 23

Make sure the initial hearing screening is done. If the child failed, have a rescreening done and if they failed, refer to audiologist. Obtain the results of the hearing screening from the hospital or state early detection program.

Answer 24

Any child that has failed the initial screen or did not have the initial screen, should be screened again by 3 months at the latest. Discuss results with parent

Answer 25

Every infant with a permanent hearing loss should be referred to early intervention

Answer 26

Make sure that at every well visit, you assure child is in an early intervention program Make sure they have referrals to **ENT, genetics, neurology** if desired Make sure amplification is discussed with the family Remember 90% of infants with hearing loss are born to parents with normal hearing

Answer 27

* An infant may pass newborn hearing screening, yet still be at risk for late onset hearing loss. (most common cause = infection with CMV (cytomegalovirus) * If there is a positive history for hearing loss in a relative's child. Must use surveillance of hearing/language. * A change in language status may signal hearing loss.

Answer 28

* Parental concern should prompt referral for audiological evaluation * Referrals for pediatric audiology and for speech or language evaluation may be helpful. * Hearing evaluation—first * Results will influence the interpretation of subsequent speech/language evaluation. * Use your resources. * When a child has a diagnosis of late-onset permanent hearing loss, ENT, ophthalmology, medical-genetics and early intervention services should be utilized.

Answer 29

* Autism * Developmental delay * Genetic conditions * Neuro disorder

Answer 30

1. Neurology 2. Genetics 3. Cardiology 4. ENT 5. **All of the above**

Answer 31

* Of the approximately 50% of children with hearing loss identified with a genetic disorder * 30% have 1 of the more than 400 syndromes associated with hearing loss. * The remaining 20% are non-syndromic and have a specific gene mutation * **GJB2 mutation screening** * More than 120 different gene mutations have been identified, the **most commonly mutated gene is GJB2 and the associated Connexin 26 protein**

Answer 32

High resolution scanning of the temporal bones (inner ear region) has dramatically improved the ability to identify a cause for a child's congenital sensorineural hearing loss (SNHL). * In roughly 35% of children scanned because of a confirmed SNHL, an abnormality of the inner ear can be identified as responsible for the hearing loss. * Enlarged vestibular aqueduct represents the most frequent inner ear anatomical defect. * The vestibular aqueduct is a bony conduit that houses the endolymphatic duct and sac of the inner ear, structures that are believed to play a role in the fluid homeostasis of the inner ear

Answer 33

Also check for **Wartenberg syndrome** in infants diagnosed with hearing loss

Answer 34

* Cellular energy defects * Mitochondrial disorders can affect maintenance of hair cells and are often associated with cardiomyopathy * Lysosomal storage diseases and other disorders affecting connective tissue * Lead to chronic middle ear disease, with conductive hearing loss and also cause cardiac valve disease and/or cardiomyopathy. * Genetic syndromes * Jervell and Lange-Nielsen Syndrome * Usher Syndrome

Answer 35

**Jervell and Lange-Nielsen Syndrome** * Cardioauditory syndrome * Be aware that syncope could be a sign of dysrhythmia

Answer 36

Prolongation of the QTc interval * Tachyarrhythmias, including ventricular tachycardia, torsade de pointes ventricular tachycardia, and ventricular fibrillation * Presents as syncope or sudden death. * Iron-deficient anemia and elevated levels of gastrin are * Screen deaf with history of syncope or family history of sudden death with ECG looking for long Q-T

Answer 37

Sensorineural Hearing loss and Retinitis Pigmentosa(RP): progressive loss in **tunnel vision** fashion leading to blindness

Answer 38

**Type 3**: later onset hearing loss, 50% have balance (vestibular) dysfunction with RP between the second and fourth decade of life **Type 1**: profound congenital hearing loss and balance problems with RP starting around age 10 **Type 2**: moderate to severe congenital hearing loss that can worsen. Night blindness occurs during the late teens or early twenties. central vision is usually retained into adulthood.

Answer 39

1. IDEA 2. Section 504 of Rehabilitation Act 1973 3. Katie Beckett Act

Answer 40

Public law 99-457 (1975)-Individuals with Disabilities Education Improvement Act (IDEA) * Federal government requires individual states to provide services for children with disabilities under the age of five. * Early intervention services mandated under Part C * Free appropriate public education (FAPE) for children with disabilities ages three to five under Part B

Answer 41

* Social work referral (would be nice if you worked in a hospital based clinic) * Help the mother with a letter to the school Board-Review the IEP * Transportation Services * Respite Care depending on the situation * Journal to write down what each specialist tells the mother-review journal notes with mom * Be aware of risk of childhood mental health issue- screen with pediatric symptom checklist * Follow up on referrals and review the results with the mother * Ask the mother what you can do to help her * Make sure the child is up to date on immunizations * Dental referral * Support group on line or in hospital

Answer 42

History Case 2 (Cont.) * PMHX: : Fractured big toe 3 yrs. ago from soccer * Asthma- no history of admissions/intubations * Meds: Albuterol MDI prn, Inhaled steroid MDI one puff bid * Allergies: None * Immunizations: UTD

Answer 43

* Cyanosis * Fevers * 6 weeks * Multiple joints involved * Suspicion for autoimmune disease

Answer 44

* CBC w/ diff * Chemistry * **ESR/CRP** * U/A * **Lyme** * **ANA** * **RF** * **VDRL** * **ASLO/Streptozyme DsDNA** * Ro * La * Compliments - C3 & C4 * **EBV titers** * HIV

Answer 45

Neutrophil typo (58.8 for reference range) Impression: patient has a microcytic anemia (could be ID could be chronic disease) * 72 (MCV)/3.46 (RBC) = \>20 = iron deficiency (13 is cutoff)

Answer 46

* U/A = trace leukocytes * SG 1025 * Cloudy/yellow * pH 6.7 * Blood - neg * Protein \>300 * Glucose - neg * Leukocytes Trace * Nitrates negative * Urobilogen 0.2 * WBC 2-6/hpf * Chemistry = Cr elevated (kids Cr range is lower) * Na 144 * K 4.2 * Chloride 110 * Co2 26 * Glucose 120 * BUN 25 * Creatinine 1.3 * Lyme 1.0 = negative * EBV- = IGG+, IGM negative (hx of mono) * ASO = +640 * ANA = +1:320 * RF = +1:45 * VDRL = negative * CRP = 0.8 * C3 = low * C4 = low * DsDNA = High (lupus)

Answer 47

1. Post strep Arthritis 2. **Systemic Lupus Erythematous** 3. Lymphoma 4. Systemic vasculitis (possible)

Answer 48

* Plasma proteins that increase during acute phase of inflammation * Sedimentation rate (ESR) * C-reactive Protein (CRP) * Ferritin * Anti-Streptolysin O Titer (ASO) * Procalcitonin (PCT) * Complements (C3, C4) * Haptoglobin * Serum Amyloid A * Autoantibodies

Answer 49

Chronic multi-system, inflammatory, classic immune complex disease * Second most common rheumatic disease of childhood * Complex and serious of the autoimmune disorders * Female to male ratio in 0-10-year-old: 3:1 * Female to male ratio in \>10-year-old: 8:1 * Disease is rare before the age of 5 years * Newborns (of mothers who have lupus) can have: * Neonatal lupus * Complete heart block -\> lifelong pacemaker

Answer 50

Antinuclear Antibody (ANA) * A non-specific screening test for rheumatologic disease * Specificity * Sensitivity * Positive in more than 95 percent of patients * Test for the presence of **autoantibodies** to cell nuclei

Answer 51

* Healthy individuals * Females more than males * Systemic Autoimmune diseases * SLE, MCTD, scleroderma, Sjögren's syndrome, JIA * Organ specific autoimmune disease * Drugs * INH, Minocycline, anticonvulsants, chlorpromazine * Infections * EBV, TB, bacterial endocarditis, Malaria, Hepatitis C, Parvovirus

Answer 52

Anti-Smith Antibody

Answer 53

Anti-double strand DNA antibody

Answer 54

Complement Levels * Consumed in immune reactions and decrease in SLE. * Total hemolytic complement (CH50), * C3 and C4-most commonly used to measures SLE disease activity. * Levels may be decreased in active SLE disease.

Answer 55

Antiphospholipid antibody * Autoantibodies that react with phospholipids on cell membranes. * Present in 50 percent of people with lupus. * Associated with increased risk of thrombosis and neurological disease

Answer 56

Anti-P ribosomal antibody * Antibodies targeted to the proteins on the stalk of the 60S ribosomal subunit. * Highly associated with disease activity; liver, kidney and CNS involvement

Answer 57

* The Anti-DNA antibody is thought to be virtually diagnostic in SLE, and thus the lab of an Anti DNA Ab of 182.4 in this case, is unequivocally diagnostic for SLE (Provon 2010). * While complement components of C3 and C4 usually rise with inflammation and/or infection, they fall or are low in the case of active lupus. * In this case, there are high anti-LA and high anti-RO antibodies indicative of Sjogren’s syndrome. * This means she has a “full-deck” of lupus symptoms

Answer 58

* Based on organ and system involved * NSAIDS * Sun screens * Avoid estrogen containing oral contraceptives § Corticosteroids * Immunosuppressive * Chemo * Cellcept * Imuran * Rutiximab * Benlysta * Methotrexate * Preventions and supportive care

Answer 59

* Medication and patients with Chronic illness * Supporting Adolescents with Chronic illness * Strength based Approach to Adolescent care * Screen for adolescent depression using PHQ-A * Suicide screening * Pediatric Symptom Checklist is another tool. * Greater risk for depression and anxiety

Answer 60

* To understand the clinical presentation of heart failure in pediatric patients * To understand the chest pain and Kawasaki Disease * To be able to perform a pre-participation sports physical

Answer 61

1. **Cardiomyopathy** 2. Functional murmur 3. None of the above

Answer 62

1. Athletic heart 2. Dilated cardiomyopathy 3. Myocarditis 4. Hypertrophic Cardiomyopathy

Answer 63

End organ hypoperfusion causes symptoms * Decrease blood flow to kidney * Renin/angiotensin based salt and water retention and increased circulating volume * Angiotensin raises BP * Results in edema * Decrease perfusion to skin * Pallor and mottling * Diaphoresis during feeding * Due to catecholamine release * Increased systemic vascular resistance * Increases myocardial demand causing hypertrophy or dilation

Answer 64

* Contractility reduction * Primary cardiomyopathy * hypertrophic cardiomyopathy (HCM) * Dilated cardiomyopathy (DCM) * Arrhythmogenic cardiomyopathy * Left ventricular (LV) noncompaction cardiomyopathy * Secondary cardiomyopathy * Myocarditis * MI * Inflammatory * Kawasaki disease, systemic lupus * Traumatic * Cardiac tamponade or myocardial contusion

Answer 65

Child * Decreased exercise capacity * Fatigability * Shortness of breath * Weight gain or loss Infant * Poor weight gain * Cachexia * Malnutrition * Sweating when feeding Adolescent * Fatigue * Cold intolerance * Exercise intolerance * Syncope * Dizziness

Answer 66

First sign: **Tachycardia** Infant heart is stiffer and less distensible so they increase rate as they cannot increase stroke volume * Tachypnea * Hepatomegaly * Edema * Ascites * Diminish perfusion * Pedal edema and neck vein distention are rare * Listen for gallop

Answer 67

* May have biventricular outflow tract obstruction in infancy * Older children asymptomatic * May have murmur * Pulse may be diminished as ventricular ejection is impeded * Listen to murmur squatting and then have the patient stand. * MURMUR WILL greatly INCREASE IN INTENSITY as child stands * This is the opposite of what you would expect

Answer 68

1. Valsalva = increase (decreases preload) 2. Squatting or hand grasp = decrease (increases afterload) 3. Raising the legs = decrease (increases preload) 4. Exercising = increase (increases contractility) 5. Standing up suddenly = increase (decreases afterload)

Answer 69

Left ventricle is enlarged and has poor contractility Increased risk of severe arrhythmia * Genetic – More common * Comprehensive genetic testing encompasses ever-increasing gene panels. * Genetic diagnosis can help predict prognosis, especially with regard to arrhythmia risk for certain subtypes. * Nongenetic causes * Hypertension * Valve disease * Inflammatory/infectious causes, and toxins

Answer 70

1. Myocarditis 2. **Atrial Septal Defect** 3. Ventricular septal defect 4. Hypertrophic Cardiomyopathy

Answer 71

**Chest Pain- Differential Dx** * Musculoskeletal Pain * Respiratory Conditions * Psychogenic Disturbances * Gastrointestinal Disorders * Cardiac Disease * Idiopathic = 20-45% in some studies

Answer 72

* Strain of chest wall muscles * New exercise, new activity * Wrestling * Heavy books, backpacks * Chest wall trauma (bruise/fracture) * Costochondritis - tenderness on palpation, worse with breathing, persistent

Answer 73

* Overuse of the chest wall musculature from: * Persistent cough * Asthma * Pneumonia * New exercise * Spontaneous Pneumothorax * Pulmonary embolism * Fever, dyspnea, pleuritic pain, cough, hemoptysis * More common in adolescent females * Oral contraceptive use? * Males with history of leg trauma

Answer 74

* Equally common in males and females * Anxiety may not be readily apparent * Family history * Social history * Family member or friend with chest pain as presenting symptom of cardiac disease

Answer 75

* Reflux esophagitis * Foreign body * Hiatal Hernia * Subdiaphragmatic abscess

Answer 76

* Myocardial ischemia = coronary anomalies * Kawasaki Disease * Cocaine & other drug abuse * Arrhythmia * Hypertrophic cardiomyopathy * Marfan Syndrome * Pericarditis

Answer 77

No, is rare in children * Suspect if known history of coronary disease * Kawasaki Disease * Transposition of the Great Arteries * Anomalies of the coronary arteries * Single coronary * Anomalous origin of coronary * Pressure sensation ± burning * Radiation to neck, shoulder or arm * Occurs during or following exercise * Improves with rest 12

Answer 78

Aortic Dissection

Answer 79

Pericarditis

Answer 80

* Chest pain * Respiratory distress, CHF, or tamponade * Precordial “knock” or rub (like the sound of shoes walking on snow) * The classic signs include exercise intolerance, fatigue, jugular distension, lower extremity edema, hepatomegaly, poor distal pulses, diminished heart tones, and pulsus paradoxus

Answer 81

* None if costochondritis, muscle strain, or other benign musculoskeletal causes * Electrocardiogram if cardiac concern * Exercise * Palpitation * Chest radiograph if respiratory cause suspected, fever, cough, dyspnea * Echocardiogram is generally not indicated unless rub, family history of hypertrophic cardiomyopathy, congenital heart disease

Answer 82

* Chest Pain with or after exercise * Chest Pain with syncope or near syncope * Chest Pain in patient with previous cardiac disease or history of cardiac surgery * Acute, sudden onset in Marfan syndrome

Answer 83

* Aortic root ≥2 z score and ectopia lentis (the dislocation or displacement of the natural crystalline lens) * Aortic root ≥2 z score and FBN1 mutation * Aortic root ≥2 z score and systemic score ≥7 * Ectopia lentis and FBN1 mutation known to be associated with Marfan syndrome * Positive family history of Marfan syndrome and ectopia lentis * Positive family history of Marfan syndrome and systemic score ≥7 * Positive family history of Marfan syndrome and aortic root ≥3 z score in those \<20 y of age or ≥2z score in an adult (\>20 years of age).

Answer 84

* Wrist and thumb sign (3) * Wrist or thumb sign (1) * Pectus carinatum (2) * Pectus excavatum or chest asymmetry (1) * Hindfoot deformity (e.g., valgus) (2) * Pes planus (1) * Pneumothorax (2) * Dural ectasia (2) *(**widening or ballooning of the dural sac surrounding the spinal cord**.*) * Protrusio acetabulae (2) *defect of the acetabulum, the socket that receives the femoral head to make the hip joint**.* * Reduced upper-to-lower segment ratio and increased arm-span-to-height ratio * Scoliosis or thoracolumbar kyphosis (1) * Reduced elbow extension (1)

Answer 85

3 of the following Craniofacial features * Dolichocephaly *condition where the head is longer than would be expected, relative to its width* * Downward-slanting palpebral fissures * Enophthalmos = *posterior displacement of the eye*, retrognathia = *unusual position of the mandible*, and malar = *underdevelopment of cheekbones* hypoplasia (1) * Skin striae (1) * Myopia (1) * Mitral valve prolapse (Tinkle, Saal, and the Committee and Genetics 2013)

Answer 86

**A potential Marfan syndrome diagnosis includes FBN1 mutation with aortic root with** * A z score \<3 in those \<20 years of age Person with Marfan's syndrome is tall and thin and has an arm span that exceeds her height.

Answer 87

* Congenital * Hypertrophic Cardiomyopathy * Coronary Anomalies * Aortic Stenosis * Arrhythmia (WPW, long QT syndrome, etc) * Acquired * Myocarditis * Dilated Cardiomyopathy * Coronary Artery Disease * Trauma: commotio cordis (cardiac concussion)

Answer 88

* Cerebral Aneurysm * Sickle Cell Trait * Bronchial Asthma * Drug Use * Cocaine * Amphetamines * Unknown * Commotio Cordis

Answer 89

* Provider: Attempts to identify those at risk * School: implements cost-effective strategies to protect their athletes * Society: * Permits many sports with significant risk * May not be willing to bear the cost of screening * Can not achieve “zero-risk”

Answer 90

* Requisite Training * Medical Skills * Background to reliably obtain a thorough cardiovascular history * Perform Cardiovascular Exam * Recognize Heart Disease

Answer 91

* Targeted History & Physical Exam: * Identify (or raise suspicion of) cardiovascular lesions known to cause sudden death in young athletes * In all high school and college aged participants prior to training * Repeat Full Screening every 2 years * Interval History and BP yearly

Answer 92

1. Chest pain or pressure related to exertion 2. Unexplained syncope or presyncope 3. Dyspnea, fatigue, or palpitations related to exercise 4. History of a heart murmur 5. Elevated blood pressure 6. Previous restrictions from sports 7. Previous cardiac testing.

Answer 93

1. Family history of premature death 2. Family history of disability from heart disease 3. Family history of hypertrophic or dilated cardiomyopathy, long-QT syndrome, or other ion channelopathies, Marfan syndrome, significant arrhythmias, or specific genetic cardiac conditions 4. Heart murmur on examination 5. Femoral pulses for aortic coarctation 6. Physical examination findings consistent with Marfan syndrome 7. Brachial artery blood pressure (both arms)

Answer 94

* Even the best H & P won’t detect everything! * Should Detect: * Aortic Stenosis - systolic ejection murmur * Marfan Syndrome - physical stigmata * May Not Detect: * Hypertrophic Cardiomyopathy * Coronary Artery Anomalies * others

Answer 95

* People with symptoms during exercise Should be Evaluated thoroughly * Chest Pain or tightness * Palpitation or irregular heartbeat * Syncope is never normal during exercise * Referral to a trained specialist: * H & P - 12-lead ECG * Exercise Stress Test - Echo

Answer 96

Myocarditis * Direct infection of the myocardium (e.g., viral myocarditis) * Toxin production (e.g., diphtheria) * Immune response as a delayed sequela of an infection (post viral or postinfectious myocarditis) * A common type of myocarditis is acute rheumatic fever (ARF).

Answer 97

* Major criteria: * Clinical and/or subclinical carditis\* * Seen on echocardiography * Monoarthritis, polyarthritis and/or polyarthralgia * Chorea * Erythema marginatum * Subcutaneous nodules * Minor * Prolonged PR interval† * **Monoarthralgia** * **≥38°C** * Peak **ESR ≥30 mm** in 1 h and/or CRP ≥3.0 mg/dL

Answer 98

Endocarditis An infection of the endothelial surface of the heart, with a propensity for the valves * Increased risk in children with artificial valves and patches, and patients with central lines * 90% of cases are caused by gram-positive cocci. * Alpha strep, Staph aureus, pneumococcus, group A B hemolytic streptococci

Answer 99

* Fever * Tachycardia, CHF, dysrhythmia, cardiogenic shock * History of recent cardiac surgery or indwelling vascular catheter * Heart murmur * Petechiae, septic emboli, or splenomegaly

Answer 100

* Recurrent fevers * S. viridans, S. aureus * Conjunctival hemorrhages * Classic skin lesions * Splinter hemorrhages * Petechiae and purpura\* * Osler's nodes (tips, pain) * Janeway lesions (proximal palms soles) * Lesions caused by septic emboli and vasculitis

Answer 101

Kawasaki Disease * **Mucocutaneous lymph node syndrome** * **Medium vessel vasculitis** * Unclear etiology * Toxin mediated? * Affects **infants** and **children** * **Coronary artery thrombosis** and **myocardial infarction** * **Myocarditis**, **dysrhythmia** * Coronary artery **aneurysms** develop in 20% if untreated * **IVIG\*** * **Aspirin\***

Answer 102

**Fever \> 5 days** * Plus 4 out of 5 * Non purulent **conjunctivitis** * **Oral mucosal** changes * Red fissured lips * **Strawberry** tongue * Pharyngitis * Extremity changes * **Swelling** or peeling * **Rash** * Often nonspecific * Perineal rash in many * **Cervical Adenopathy**

Answer 103

* 10% present with **seizures** * 15% of patients with prolonged QTc **die during their first episode of arrhythmia** * 30% of these deaths occur during the **first year of life**

Answer 104

* Hypertrophic cardiomyopathy * Syncope with exercise * At risk for sudden death; positive family history * Non-specific murmur; ECG can show non- specific findings. * CXR is non-diagnostic * Echocardiogram is diagnostic. * Chronic cardiomyopathy * Chronic CHF * Dysrhythmias

Answer 105

* Consider cardiac arrhythmias in all patients presenting with brief, nonspecific changes in level of consciousness: * Fainting, syncope, seizures, breathholding, apparent life-threatening events

Answer 106

Plan **Radiograph** of Skull Cranial **Ultrasound** in Infants and Neonatal period , Ultrasound of sacral spine **CT** of head **MRI**

Answer 107

Plan Radiograph of Skull

Answer 108

Ultrasound of sacral spine

Answer 109

Computerized tomography of head Does not image posterior fossa, brain stem as well as MRI

Answer 110

Magnetic resonance imaging

Answer 111

**Children are inherently more radiosensitive and they have more life years to get radiation induced cancer** * CT of head and abdomen: most common * IN 1991 to 1996, .4% of all cancers may be attributable to radiation from CT * Readjustment for today’s use may make estimate as high as 1.5 to 2%

Answer 112

**Functional MRI (fMRI)**

Answer 113

**Magnetic Resonance Spectroscopy (MRS)**

Answer 114

**Magnetic Resonance Angiography (MRA)**

Answer 115

1. Hyperreflexia (seen with upper motor neuron disease) 2. **Hyporeflexia** 3. Loss of intelligence 4. Tunnel Vision

Answer 116

1. **Multiple Sclerosis** 2. Beckers Muscular Dysytrophy 3. Myotonic Dystrophy 4. Limb Girdle Dystrophy

Answer 117

* Weakness * Hypertonicity * Hypotonicity * Hyporeflexia * Double vision * Tunnel vision * Fasciculations **In children** * Loss of developmental milestones * Developmental Delays * Intellectual impairments

Answer 118

1. CBC 2. Creatinine kinase (ordered across the lifespan when pt complains of weakness - hallmark of neuromuscular disease) 3. Complete Metabolic Profile 4. TSH (2nd choice)

Answer 119

* Is there abdominal breathing or accessory muscle use * Evaluating for head lag when pulled to sit or inability to voluntarily flex neck when supine * Evaluating whether child slips through the hand when held * Stimulating foot and evaluate force of withdrawal movement * Watching for difficulty getting up from the floor * Look for muscle hypertrophy or atrophy particular calves and tongue (calves may also feel abnormally full)

Answer 120

Gower’s Maneuver

Answer 121

Calf Pseudohypertrophy * **X-linked recessive disease** * **Caused by mutations in the dystrophine gene (Xp21)** * **Large gene → high proclivity for mutations**

Answer 122

Duchenne Muscular Dystrophy * Typically presents with delayed or disordered motor or speech development and muscle weakness * Over the last 10 years, improved standards of care have significantly increased the life expectancy

Answer 123

* DMD is the most common muscular dystrophy in children and affects approximately one in every 4000 male newborns * No predilection for race or ethnic group * 1 in 3,500 live male births * Estimated 8,000 males in the US with DMD * If mother is a carrier * 50% chance of **affected** male child & 50% chance of **carrier** female child * “Carrier Female” * ~8% of female carriers manifest mild proximal weakness * 10% develop cardiac failure * Cognitive effects

Answer 124

* Abnormal muscle function * Delayed walking * Frequent falls * Difficulty with running and climbing stairs * Calf pseudohypertrophy * Progressive proximal musculature weakness * Waddling gait 2° girdle muscle weakness * Gower’s sign * Delays in attainment of developmental milestones * Walking or language

Answer 125

Increase in **serum creatine kinase (CK)** and **transaminases** (aspartate aminotransferase and alanine aminotransferase)

Answer 126

* DMD continues to be diagnosed late * Delayed diagnostics negatively affects access to genetic counseling, standards of care and potentially recruitment into clinical trials

Answer 127

* Viltolarsen injection from the treatment of Duchenne muscular dystrophy (DMD) in patients * Approximately 8% of patients with DMD have a mutation that is amenable to exon 53 skipping

Answer 128

Spinal Muscular Atrophy (SMA) type III = Kugelberg-Welander Disease Spinal Muscular Atrophy (SMA) type IV = Adult onset

Answer 129

* Onset \>18m of age * Walk independently * Type 3a: onset prior to age 3 * Type 3b: onset after age 3

Answer 130

* Onset- second or third decade * Moderate proximal muscle weakness

Answer 131

Myotonic Muscular Dystrophy

Answer 132

MMD1 = the most common type of MMD seen in children, results from an abnormal DNA expansion in the *DMPK* gene on chromosome 19 * The age of onset is roughly correlated with the size of the DNA expansion * MMD1 is caused by abnormally expanded stretches of DNA * The expansions effect various cells, particularly the cells of the voluntary and involuntary muscles, including the heart and some nerve cells * MMD1 is inherited in an *autosomal dominant* pattern

Answer 133

Congenital-Onset MMD1 Juvenile-Onset MMD1 Adult-Onset MMD1

Answer 134

* Begins at/or around the time of birth * Severe muscle weakness * Cognition impairment * Developmental abnormalities * Occurs when DMPK gene flaw from the mother. Mother with small CTG repeat expansion with few or no symptoms can give birth to baby with large CTG expansion and congenital-onset form of MMD

Answer 135

* Begins during childhood (after birth but before adolescence) * Cognitive and behavioral symptoms * Muscle weakness * Myotonia (difficulty relaxing muscles after use) and other symptoms

Answer 136

* Begins in adolescence or early adulthood * Slowly progressive weakness * Myotonic cardiac abnormalities * Mild to moderate cognitive difficulties *The later the age of MMD1, symptoms are less intense*

Answer 137

* No cure * Currently enrolled for clinical trials * Vision screening * Cataracts & strabismus common * Cardiac disease * Cardiomyopathy and arrhythmias * Anesthesia concerns * High risk for complications * Respiratory * BiPAP may be required * Annual pulmonary evaluation * Cognitive & behavioral abnormalities * Neuropsychiatric evaluations * Difficulty chewing and swallowing * GT may be needed * Insulin resistance * Diabetes may evolve * Close monitoring and management

Answer 138

* Slight elevation of 1-2 times normal * Marked elevation refer to pediatric neurology (preferably those specialize in neuromuscular disorder) * CK elevated to 500 in spinal muscular atrophy or marie charcot tooth disease * CK elevated to thousands in DMD * CK levels 20,000 to 50,000 with rhabdomyolysis * Normal CK does not rule out

Answer 139

Myasthenia Gravis **Mestinon and Steroids** **IVIG** Ocular signs and Swallowing problems

Answer 140

Myasthenia Gravis * Due to presence of an autoantibody binding to acetylcholine at the neuromuscular junction * Auto-antibody binds to other portions of acetylcholine receptors without binding to acetylcholine

Answer 141

* Muscle weakness * Difficulty swallowing * Fatigability * Pre-pubertal children * Higher prevalence of **isolated ocular symptoms** * Lower frequency of acetylcholine receptor antibodies * Higher probability of achieving remission

Answer 142

**PE** consistent with MG **Serologic testing** for **ACH** binding, blocking, modulating and **anti-MUSK antibodies** **Electrodiagnostic testing** If the blood tests are negative, a muscle's response to repeated nerve stimulation declines rapidly **Tensilon test** (fast acting cholinesterase inhibitor) = temporary increase in strength after this test in MG **CT scan or MRI of thymus if diagnosis of MG is confirmed**

Answer 143

* **Rituximab** * **Eculizumab** = Humanized monoclonal antibody against the terminal C5 complement molecule * **Methotrexate** * **Immune checkpoint inhibitors** = Early immunosuppresion in ocular MG and MG associated * **Acetylcholinesterase inhibitors** * **Thymectomy** * post-pubertal children usually * **Steroids** used in combination with steroid sparing agents * Eg. Azathioprine, Cyclosporine A, Cyclophosphamide, Tacrolimus, Rituximab * **IVIG** * **Plasmaphoresis**

Answer 144

Many prescription drugs can unmask or worsen symptoms of MG * Eg. muscle relaxants during surgery * Aminoglycoside and quinolone antibiotics * Cardiac anti-arrhythmics * Local anesthetics * Magnesium salts (milk of magnesia)

Answer 145

Myasthenic Crisis **EXTREME episode of weakness** * Results in respiratory failure and the need for mechanical ventilation * Respiratory muscles give outdoor have weakness in throat muscles that cause the airway to collapse * Can happen without warning, but it can often have identifiable trigger * Fever * Respiratory infection * Traumatic injury * Stress * Drug

Answer 146

1. **Muscle destruction, Muscular dystrophy, Becker's, other muscle disorder** 2. **Lower motor neuron disorder (SMA) risk of rapid deterioration if ill** 3. **Glycogen storage disease (mucopolysaccharidosis, Pompe disease improve with early enzyme therapy)**

Answer 147

1. Neurological consult 2. Neuromuscular disorder with risk of respiratory failure with acute illness 3. Neurodegenerative process 4. Mitochondrial myopathies present

Answer 148

Patient has Autism

Answer 149

**Autism Spectrum Disorder** * Autism Disorder * Asperger Disorder * Childhood Disintegration Disorder * PPD-NOS (Pervasive Developmental Disorder- Not Otherwise Specified)

Answer 150

**A) Social communication impairment** **B) Restricted and repetitive patterns of behavior** **C) Symptoms must be present in early development (may become more manifest as social demands exceed capacity)** **D) Symptom cause significantly different impairment in social, occupational or other important areas of current functioning** **E) These disturbances are not better explained by intellectual developmental disability**

Answer 151

**Deficits in Social-emotional reciprocity** * Absent/diminished social interest/motivation * Lack of social know how, trouble with imitation, limits use of language * LOOK FOR REDUCED SHARED AFFECT, RESPONSE TO NAME, IMITATION AND SHOWING BEHAVIORS. **Deficits in nonverbal communication** * Lack of communication ability via eye contact, body language, or gesture * Atypical language, odd intonation * LOOK FOR DECREASES IN EYE CONTACT AND GESTURE SYSTEM **Deficits in developing, maintaining and understanding relationships** * Deficits in maintaining relationships * Difficulties in sharing imaginative play * Not interested in peers, family members * Difficulties in making friends despite interest * ASK ABOUT SIBLING RELATIONSHIPS, RELATIONSHIPS WITH GRANDPARENTS

Answer 152

* Stereotyped or repetitive motor movements, echolalia, idiosyncratic phrases, LOOK FOR TOE WALKING * Insistence or sameness, inflexible adherence to routines, ritualized patterns of verbal or non-verbal behaviors * Highly restricted, fixed interests that are abnormal intensity or focus * Hypo or hyper reactivity to sensory input * VERY SELECTIVE EATING PATTERNS

Answer 153

* Give and take of social interaction * Must recognize another person’s perspective * Trouble establishing relationship with peers * May not empathize well * Joint attention or ability to attend to an activity with another person is lacking * Can’t point to an object (protoimperative pointing) * Looks at mouth, not eyes

Answer 154

spins, flapping, bouncing, spinning, toe walking Clumsiness

Answer 155

* Inattentive/Hyper- activity * Impulsive behaviors * Anxiety * Self-injurious behaviors (biting, head banging) * Unusual sensory seeking or avoiding * Does not cry if in pain * Severe tantrums

Answer 156

* Hyperlexia: reads without understanding * Cognitive impairment (moderate IQ in the 35-50 range) 50% * Unevenness of skills * Splinter skills/ Savant skills

Answer 157

* CDC has identified that 1 out of 54 children has autism * Many children are not identified until school starts * Early intervention especially around behavior is effective and can improve outcomes * Minority children are less likely to be identified * Older children who fall on the functional end of the spectrum may not be identified and may be seen as peculiar.

Answer 158

1. **M-CHAT R** 2. **Social Communication Questionnaire for children over 4 years** 3. **STAT**- screening tool for autism in toddlers/ young children 4. **ESAC**: Early Screening for Autism and Communications Disorders 5. **Infant/ Toddler checklist** 6. **SWYC/POSI** (Survey of well-being of young children/ patient’s observation of social interaction)

Answer 159

**\< 5 years: Global Developmental Delay** **5 and older: Intellectual Disability**

Answer 160

* Significant delay in 2+ developmental domains * Gross/fine motor, speech/ language, cognitive, social/personal, activities of daily living * Usually reserved for children younger than age 5 years * Those \>5+ are usually assessed by IQ testing which identifies intellectual disabilities

Answer 161

* Developmental screening at 9, 18, 30 months * Use a norm-references, age appropriate screening instrument * PEDS * Ages and Stages * Positive screen prompts referral for diagnostic evaluation

Answer 162

* Family history, including parent developmental history and function * Review risk factors such as prematurity, co-occuring medical illnesses * Confirm newborn screening results * Formal hearing and vision evaluations

Answer 163

* The frequency with which an etiologic factor is identified in children with DD vary and depends on extent of delay * Diagnostic investigations include clinical evaluation, imaging studies, laboratory evaluations * Estimate widely * Most studies identify an etiology in 40-60% with global DD * Lower rates of detection in single domain developmental delay (25%) with an isolated language delay 5%

Answer 164

Array CGH (comparative genomic hybridisation) is **a technique which screens the whole genome to detect copy number changes (unbalanced gains/duplications and losses/deletions of genetic material) which may be contributing to a child's phenotype**.

Answer 165

* Link between mitochondrial dysfunction and ASDs * Persons with austistic behaviors and loss of speech after febrile illness or immunization with subsequent encephalopathy * Constitutional symptoms, hypotonia, repeated regressions after the age of 3 years * Multiple organ dysfunctions are clues to consider mitochondrial disease

Answer 166

* Acid/base or electrolyte disturbances * Anemia with an elevated mean corpuscular volume * Cyclic vomiting * Dermatologic changes: alopecia, hypertrichosis, and pigmented skin eruptions * Developmental regression associated with illness or fever * Gastrointestinal dysfunction, gastroparesis * Hypotonia/dystonia

Answer 167

* Lactic acidosis * Lethargy * Multisystem involvement, especially cardiac, hepatic, or renal (physical and/or laboratory evidence) * Neurodegeneration outside of the typical ASD speech loss at 18–24 months * Poor growth, microcephaly

Answer 168

* Reassure and follow * Karyotype * **Chromosomal Microarray** * Comprehensive metabolic profile

Answer 169

Central nervous system/peripheral nervous system * Stroke or stroke-like * Peripheral neuropathy * Cranial nerve dysfunction Visual system and auditory system * Sensorineural deafness (particularly onset is early) * Progressive external ophthalmoplegia and ptosis * Painless sequential loss of visual acuity-optic atrophy

Answer 170

* Cardiac System * Cardiac conduction block to predisposition to arrhythmia or Wolff-Parkinson-White syndrome * Metabolic cardiomyopathy, either hypertrophic or dilated. * Neuromuscular * Nonspecific exercise intolerance * GI * Delayed gastric emptying with nausea and vomiting, constipation, diarrhea, and intestinal pseudo-obstruction

Answer 171

Standard of Care Rx **Prednisone or Deflazacort** manage weight gain side effect Identify and treat **Cardiomyopathy** = echo and EKG annually until non ambulatory then every 6 months **Pulmonary** eval biannually once nonambulatory Treat **Scoliosis** early!

Answer 172

* Since the introduction of steroid treatment, nocturnal ventilation and cardiac support clinical outcomes and life expectancy have significantly improved. * Without treatment, the natural history of DMD is for affected boys to lose ambulation before the **age of 13 and death in their late teens or early 20s due to respiratory or cardiac failure.** * A boy was diagnosed with DMD today and managed according to DMD Care. Standards has a good chance of living well into his 30s

Answer 173

**_Cerebral Palsy_** *Cerebral palsy (CP) is* ***a group of disorders that affect a person's ability to move and maintain balance and posture****. CP is the most common motor disability in childhood. Cerebral means having to do with the brain. Palsy means weakness or problems with using the muscles*

Answer 174

1. Monoplegic = affecting one limb 2. Paraplegic = lower half of body, both legs 3. Hemiplegic = one side of body 4. Triplegic = 3 limbs affected 5. Quadriplegic = 4 limbs affected 6. Diplegic = affecting similar body parts on both sides

Answer 175

**_Dyskinesia_**_:_ Involuntary movements and changes in muscle tone. Damage to basal ganglia and extrapyramidal pathways. **_Athetosis_**_:_ Slow writhing movements of limbs. Extension and fanning of fingers and extension of wrist. **_Chorea_**_:_ Quick jerky movements of trunk and proximal limb muscles.

Answer 176

**Prenatal (70%)** * Infection, anoxia, toxic, vascular, Rh disease, genetic, congenital malformation of brain * Natal (5-10%) * Anoxia, traumatic delivery, metabolic * Post natal * Trauma, infection, toxic

Answer 177

* **Spastic Rigidity**: Upper motor neuron lesions, ↑tone throughout range of movement * **Hemiplegia**: One side of the body * **Diplegia**: UMNL of all four limbs but legs more than arms. May be symmetric or asymmetric. * **Paraplegia**: only leg involvement * **Quadriplegia**: Equal involvement of arms and legs. * **Monoplegia**: One limb

Answer 178

1. Birth History * Prematurity. * Seizures. * Low Apgar * Intracranial hemorrhage. * Periventricular leukomalacia. 2. Delayed Milestones 3. Abnormal Motor Performance * Handedness. * Reptilian crawl. * Toe walking. 4. Altered Tone 5. Persistence of primitive reflexes 6. Abnormal posturing

Answer 179

Mental retardation 1/3 Normal while about 1 /2 have some intellectual impairment. * Epilepsy 20-50% \> generalized. * Speech disorders 50% delay/dysarthria. * Vision and hearing 25%. * Behavior abnormalities. * Learning difficulties.

Answer 180

* Hypotonia in infancy * Spasticity after infancy * Increase in deep tendon reflexes * Clonus * Abnormal postural reflexes * Commando creeping = crawling by keeping tummy on floor

Answer 181

**Landau** * Infant will lift head and extend the neck and trunk * Present by 6 months **Parachute** * Present by 6-8 months * Look for symmetric response * Never disappears * *When a baby senses that they're about to fall, their arms reflexively extend to break the fall* **Propping reflex** * Anterior propping when sitting up * Lateral propping to maintain balance

Answer 182

* Spasticity * Weakness * Increase reflexes * Clonus * Seizures * Articulation & Swallowing difficulty * Visual compromise * Deformation * Hip dislocation * Kyphoscoliosis * Constipation * Urinary tract infection

Answer 183

70-90% of children have an MRI finding that suggests the diagnosis or treatment * 2004 Practice Parameters from AAN * Level A: Neuroimaging is recommended, with **MRI** Preferred * Level B: In Children with Hemiplegic CP, diagnostic testing for **coagulation disorders** should be considered (**stroke**) * Level B: Metabolic and genetic studies should not be routinely obtained in the evaluation of child with CP

Answer 184

* Level C: If history and findings do not determine a structural abnormality or if there are atypical features in the history or clinical examination, metabolic and genetic testing should be considered * Detection of a brain malformation in a child with CP warrants consideration of an underlying genetic or metabolic considerations

Answer 185

* Childhood absence epilepsy * Benign Rolandic epilepsy * Juvenile myoclonic epilepsy

Answer 186

**Benign Rolandic Epilepsy**

Answer 187

Childhood Absence Epilepsy

Answer 188

Juvenile Myoclonic Epilepsy

Answer 189

* Diverse Group * Breath holding spells * Pallid * Cyanotic Breath holding spells * **Sandifer syndrome** = *a condition that involves spasmodic torsional dystonia with arching of the back and rigid opisthotonic posturing, associated with symptomatic gastroesophageal reflux, esophagitis, or hiatal hernia**.* * **Tics** * Common 5-24% with stereotypic repetitivemovements or vocalization * Increase with anxiety, frustration * Diminishes with sleep * Spasmus Nutans * Benign Neonatal myoclonus * Shudder Attacks * Paroxysmal dystonic dyskinesia

Answer 190

**Spasmus Nutans**

Answer 191

* Night terrors * Apnea * Breath holding spells * Syncope * Vertigo * Migraine confusional state * Nightmares * Hyperventilation * Daydreaming attentional disorder * Hyperplexia (exaggerated startle) * Paroxysmal behavior outburst * Psychogenic seizure * GER * Arrhythmia (long QT)

Pediatric Chronic Illness, Cardiac, Neuro Illnesses Flashcards

(226 cards)