Pediatric Chronic Illness, Cardiac, Neuro Illnesses

Question 1

Objectives

• Define children with special health care needs as well as children with medical _____.
• To give an overview of chronic illness demographics and discuss the leg____ acts that has influenced the chronically ill
• To discuss f____-centered care and care coordination
• Review the presentation of the patient with a c_____ problem and review different differential diagnoses.
• Review common n_____ problems using a case based approach

Answer 1

• Define children with special health care needs as well as children with medical complexity.
• To give an overview of chronic illness demographics and discuss the legislative acts that has influenced the chronically ill
• To discuss family-centered care and care coordination
• Review the presentation of the patient with a cardiac problem and review different differential diagnoses.
• Review common neurological problems using a case based approach

Question 2

Practice Question

What is the most common problem in pediatrics?

1. Asthma
2. Dental Caries
3. Diabetes
4. Autism
5. None of the above

Answer 2

Ans: A (asthma most common problem) but B (dental caries most common infectious disease)

Question 3

Definition: Chronic Conditions in Childhood

Stein: Conditions that at the time of diagnosis or during their expected course will produce one or more of the following current or future long term sequelae:

• Limitation of functions appropriate for a__ and dev_____
• Disf____ment
• Dependency on m______ or special d___ for normal functioning
• Dependency on medical t______ for functioning
• Need for more medical ____ or related services than usual for childʼs age
• Ongoing treatments at h____

Answer 3

• Limitation of functions appropriate for age and development
• Disfigurement
• Dependency on medication or special diet for normal functioning
• Dependency on medical technology for functioning
• Need for more medical care or related services than usual for childʼs age
• Ongoing treatments at home

Question 4

Children are Different

• Different needs of children at different developmental stages and alter their expected outcome
• Ep_______ and prevalence of childhood disabilities
• A_____ protection and guidance needed by CYSHCN.
• Childʼs health and development= familyʼs health and socio______ status

Answer 4

• Different needs of children at different developmental stages and alter their expected outcome
• Epidemiology and prevalence of childhood disabilities
• Adult protection and guidance needed by CYSHCN.
• Childʼs health and development= familyʼs health and socioeconomic status

Question 5

Coping and Adjustment

(1): Dynamic process in which emotions and appraisal of the stress continually affect and influence each other and change the relationship between the individual and environment

(1): Describes the outcome of coping at a specific point in time

Answer 5

Coping: Dynamic process in which emotions and appraisal of the stress continually affect and influence each other and change the relationship between the individual and environment

Adjustment: Describes the outcome of coping at a specific point in time

Question 6

Children & Youth with Special Health Care Needs (CYSHCN)

• Those children who have or are at increased risk for a chronic:
  
  • Ph_____
  • Dev________
  • Be______l or emotional condition
  • Require services of: A type or amount be_____ that required by children generally.

Answer 6

• Those children who have or are at increased risk for a chronic:
  
  • Physical
  • Developmental
  • Behavioral or emotional condition
  • Require services of: A type or amount beyond that required by children generally.

Question 7

Children with (1) (CMC)

• Children and youth with serious chronic conditions, substantial functional limitations, increased health and other service needs, and increased health care costs
• Represent a disproportionate share of health system costs

Answer 7

Children with Medical Complexity (CMC)

• Children and youth with serious chronic conditions, substantial functional limitations, increased health and other service needs, and increased health care costs
• Represent a disproportionate share of health system costs

Question 8

Why Differentiate CSHCN and CMC

• Systems may be ______ to meet the needs of CMC (e.g., children with spastic quadriplegia and complex seizure disorder) but ____ meet the needs of CSHCN
• C______ needs require intensive support and care coordination

Answer 8

• Systems may be insufficient to meet the needs of CMC (e.g., children with spastic quadriplegia and complex seizure disorder) but can meet the needs of CSHCN
• Complex needs require intensive support and care coordination

(CMC needs higher levels of care)

Question 9

Advancing Care for Exceptional (ACE) Kids Act of 2019

=

• Improve _______ of care for children to reduce the burden on families
• Address problems with fragmented care across s____ lines
• Gather national d____ on complex conditions to help researchers improve tr_______ for rare diseases
• Potentially reduce health care sp_____, compared to the current system

Answer 9

Coordination programs in nationally designated children’s hospital networks

• Improve coordination of care for children to reduce the burden on families
• Address problems with fragmented care across state lines
• Gather national data on complex conditions to help researchers improve treatments for rare diseases
• Potentially reduce health care spending, compared to the current system

Question 10

CMC: Key Issues

• High-c____ pharmaceuticals, especially those with rare, complex pediatric conditions
• M____ health–important issue in this population and also a major component of health care use
  
  • Short term:
    
    • Child _____ attendance
    • Parental caregiver ability to w____
    • Family’s fi_____ well-being.
  • Long-term outcomes
    
    • Ind______ and so_____ integration as CMC enter adulthood.

Answer 10

• High-cost pharmaceuticals, especially those with rare, complex pediatric conditions
• Mental health–important issue in this population and also a major component of health care use
• Short term:
  
  • Child school attendance (if mentally healthy, should go to school- can screen for depression/anxiety/etc using pediatric symptom checklist)
  • Parental caregiver ability to work
  • Family’s financial well-being.
• Long-term outcomes
  
  • Independence and societal integration as CMC enter adulthood.

Question 11

Two Keys Domains of Medical Complexity

• The degree of:
  
  • Un___ need
  • Degree of f________ limitation
• Many large children’s hospital have developed programs for CHC
  
  • Focus on medical conditions
    
    • Those that are associated with medical t_______ assistance and/or those that are associated with severe n_____developmental disabilities

Answer 11

• The degree of:
  
  • Unmet need
  • Degree of functional limitation
• Many large children’s hospital have developed programs for CHC
  
  • Focus on medical conditions
    
    • Those that are associated with medical technology assistance and/or those that are associated with severe neurodevelopmental disabilities

Question 12

Gaps in Services

• There is a large gap in providing services to:
  
  • Children with complex m______ health condition, either as a primary diagnosis (e.g., schizophrenia) or a secondary diagnosis
  • Children with complex ep_____ and a comorbid psy______ diagnosis (for example, A severe anxiety disorder in a child with epilepsy).

Answer 12

• There is a large gap in providing services to:
  
  • Children with complex mental health condition, either as a primary diagnosis (e.g., schizophrenia) or a secondary diagnosis
  • Children with complex epilepsy and a comorbid psychiatric diagnosis (for example, A severe anxiety disorder in a child with epilepsy).

Question 13

Overview of Economics

• Children and adolescents that are diagnosed with a chronic medical condition has been steadily __creasing over the past 20 years
  
  • Advances in medical care that increase sur_____ (eg, cystic fibrosis, kidney transplant)
  • Increases in the prevalence of ob_____
  • As_____

Answer 13

• Children and adolescents that are diagnosed with a chronic medical condition has been steadily increasing over the past 20 years
  
  • Advances in medical care that increase survival (eg, cystic fibrosis, kidney transplant)
  • Increases in the prevalence of obesity
  • Asthma

Question 14

Children with Special Health Care Needs: Life-Changing Impact

• Learning new sk____
• Acquisition of kn______
• F_____ Changes
• Relearning
• Ad_____ issues
• Transitioning
  
  • Skills for c______ to child
  • Pediatric to _____ health care

Answer 14

• Learning new skills
• Acquisition of knowledge
• Family Changes
• Relearning
• Adherence issues
• Transitioning
  
  • Skills for caregiver to child
  • Pediatric to adult health care

Question 15

What does APN Need to Understand?

• M_____ home
• Comprehensive coo_____ care
• F_____ Centered Care
• Leg______
• Barr___ for family
• Ad_______

Answer 15

• Medical home
• Comprehensive coordinated care
• Family Centered Care
• Legislation
• Barriers for family
• Advocacy

Question 16

Medical Home

• Coordinated by the patientʼs ______ care provider (PCP)
• Is dependent on the p_____ship between patient and provider
• Comprehensive, and cost-effective manner that promotes the h_____ care of patients and their families
• Is r______ship-based, care-man____ provision of healthcare
• Has the potential to improve acc___ to care, patient sat_____, & overall health st____.

Answer 16

• Coordinated by the patientʼs primary care provider (PCP)
• Is dependent on the partnership between patient and provider
• Comprehensive, and cost-effective manner that promotes the holistic care of patients and their families
• Is relationship-based, care-managed provision of healthcare
• Has the potential to improve access to care, patient satisfaction, & overall health status.

Question 17

Children with CYSHCN Receiving SS1

• S______ mother household
• Less one-third live with both p_____
• Approximately half live in a household with at least one other dis_____ individual
• Special ed______: 70%
• (1) support:
  
  • Most important source of family income
  • 50% of income for families
• Ph____ disabilities: ages 0-5
• M_____ disabilities: ages 6 to 17
• Office of Developmental Disabilities: In_____ dependent

Answer 17

• Single mother household
• Less one-third live with both parents
• Approximately half live in a household with at least one other disabled individual
• Special education: 70%
• SSI support:
  
  • Most important source of family income
  • 50% of income for families
• Physical disabilities: ages 0-5
• Mental disabilities: ages 6 to 17
• Office of Developmental Disabilities: Income dependent

Question 18

Complicating the Problem

• H____ utilization
• Need for c____/lin_____ competence
• Need for understanding principles of health li_______
• Dis_____ reported by families from culturally/linguistically div____ groups

Answer 18

• High utilization
• Need for cultural/linguistic competence
• Need for understanding principles of health literacy
• Disparity reported by families from culturally/linguistically diverse groups

Question 19

What does APRN Need to Understand?

• Medical Home
  
  • Acc____
  • Comp_____ and Con____
  • Coo_____
  • Comp______
  • Cul______ effective
• F______ Centered Care
• Knowledge of leg______
• B______ for family- need for family support
• Ad_______

Answer 19

• Medical Home
  
  • Accessible
  • Comprehensive and Continuous
  • Coordinated
  • Compassionate
  • Culturally effective
• Family Centered Care
• Knowledge of legislation
• Barriers for family- need for family support
• Advocacy

Question 20

Need for Family Support

• High degree of skill to manage CYSHCN
• May need assistance in A _ _
• Complex and atypical be_____ problems
• Fre_____ appointments § Fin____ issues
• Family Str_____
• Care and support beyond the usual traditional _____hood years

Answer 20

• High degree of skill to manage CYSHCN
• May need assistance in ADL
• Complex and atypical behavioral problems
• Frequent appointments § Financial issues
• Family Stressor
• Care and support beyond the usual traditional childhood years

Question 21

Stages of Pediatric Involvement with Families

Order from Stage 1-5

• (1) Minimal focus on family
• (1) Feelings and Support, Problem solving
• (1) Family therapy, Guide and partner with families with ongoing, chronic problem
• (1) Initial focus on family, communication to facilitate healthcare
• (1) Systematic assessment and intervention, some training

Answer 21

• Stage I: Minimal focus on family
• Stage II: Initial focus on family
  
  • Communication to facilitate healthcare
• Stage III: Feelings and Support
  
  • Problem solving
• Stage IV: Systematic assessment and intervention
  
  • Some training
• Stage V: Family therapy
  
  • Guide and partner with families with ongoing, chronic problem

Question 22

Pediatric Health Care Home

• APN as appropriate ____dinator for CYSHCN
• Provides dir_____ health care
• Advocates for the ______
• Make appropriate r_______
• Remain res______ for the health care that is provided

Answer 22

• APN as appropriate coordinator for CYSHCN
• Provides direct health care
• Advocates for the child
• Make appropriate referrals
• Remain responsible for the health care that is provided

Question 23

Primary Care Practices and CSHCN

• Issues for care providers
  
  • T___ constraints
  • Re______ issues
• Patient issues
  
  • Lack of con______
  • Lack of sat______
  • Gr_____ practice issues

Answer 23

• Issues for care providers
  
  • Time constraints
  • Reimbursement issues
• Patient issues
  
  • Lack of consistency
  • Lack of satisfaction
  • Group practice issues

Question 24

When CYSHCN are

Medically _____, their personal, social, and family needs may often _____ their medical needs

Answer 24

Medically stable, their personal, social, and family needs may often outweigh their medical needs

Question 25

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 25

• 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

Question 26

Models Used to Care for Children with Complex Needs

• (1) becomes the medical _____ providing the full range of services including prevention and well-care, and coordination of care for all chronic and complex needs
• Complex Care Team provides care in both the (2) settings on either a rotational basis or using separate teams
• Complex Care Team works closely with (1) in care planning and coordination
• Patients requiring hospitalization may be admitted to a dedicated complex care unit or a specialty care unit; Complex care team _____ on inpatients

Answer 26

Question 27

Models Used to Care for CHC

• Some patients retain their (1) physician as their medical home while others utilize the (1) Team as their medical home
• Where PCP relationship is re_____, Complex Care Team operates as in Con_____ Model
• As in the Consultative Model, the Complex Care Team consults with PCPs and specialists to support care planning, and rounds on inpatients

Answer 27

• 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

Question 28

Consultative Model

• Patients re____ relationship with their primary care physician as the medical home
• The PCP based medical home provides all essential r____ and w___-care services and supports the coordination of care for sp____ and ch_____ care needs
• (1) consults with the PCPs to support care planning, coordinate complex medical needs and support tr_____ across care settings
• Complex Care Team r____ on patients when admitted to the _____ to support coordination of care and communication among specialists and PCPs

Answer 28

• 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

Question 29

Idea: Individual with Disabilities Education Act

• 1975: The education for all Han_______ Children Act (PL 94-142)
  
  • Free and appropriate p____education (FAPE)
  • Least restrictive environment
  • IEP or in______ Education Program
  • Sp_____ education and related services
  • Due process and procedure for com_____

Answer 29

• 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

Question 30

IDEA Individual with Disabilities Education Act

Two Parts

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

Answer 30

• 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

Question 31

Section 504 of Rehabilitation Act 1973

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

Answer 31

• 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

Question 32

What is the difference between the IDEA and Section 504 of Rehabilitation Act

• IDEA is an ______ Act
• Section 504 of Rehabilitation Act of 1973 is a ___ ___ Act

Answer 32

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

Question 33

Supplemental Security Income

• Provides f______ assistance to children with dis_____
• Social security administration evaluates children under __ 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 33

• 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

Question 34

Katie Beckett Act: The Tax Equity and Fiscal Responsibility Act of 1982 (Pub L No. 97–248)

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

Answer 34

• 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.

Question 35

(1)

• No discrimination against individuals with a disability in private sector employment or government facilities
• Important for youth who need to transition into a job

Answer 35

American with Disabilities Act of 1990 (ADA)

Question 36

(1)

• One of the largest Federal block grant programs.
• Ensuring the health of all mothers, infants, children, adolescents, and children with special health care needs (CSHCN).
• Title V is administered
  
  • Maternal and Child Health Bureau (MCHB) as part of the Health Resources and Services Administration, U.S. Department of Health and Human Services

Answer 36

Title V Block Grant to States

Question 37

Transitioning to Adult Specialists

Transition Process of CYSHCN

• Starting as early as age ___
• 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 37

• 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

Question 38

Transitions to Adult Subspecialties

• Transition checklists
  
  • S___-care skills
    
    • Acq______
    • Defi____
  • Identifying ____ specialty providers
  • Coordination

Answer 38

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

Question 39

Case 1

3.5 yo Child with Hearing Loss

Answer 39

• 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

Question 40

A newborn failed his newborn screen. The mother left the hospital before you were informed of this. What is the next step?

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 40

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

Question 41

Epidemiology

• Average: 2 to 3 newborns per 1,000 will have a c_____ hearing loss
• In the United States, 8,000 to 12,000 infants are born with c______ 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 _____ a gr____ in school
• These children may be distractible or have a limited a______ span.
• They may also have problems following dir________ or show signs of fa______ as the school day progresses
• Up to 50% or more infants who do not pass initial screening are lost to _____-up.

Answer 41

• 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.

Question 42

Prevalence of Late Onset Hearing Loss

Answer 42

Question 43

Determining Hearing Loss

(range in decibels)

Normal = ___-___

Profound = ___+

Answer 43

Question 44

Newborn Screening

If a newborn does not pass their in-hospital newborn hearing screen, the APRN should assure that the baby is rescreened before?**

• Hospital based facility or audiologist with ______ specialty
• Give guidance to obtain timely follow-up.
• Never a reason ____ to retest an infant who does not pass their newborn hearing screen.
• Providing wr______ information to parents and assisting in making the appointment can be helpful.
• Ph_____ follow-up is important.
• Results of this follow up rescreen should be confirmed with the st____ EHDI program

Answer 44

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

Question 45

What should you do after you find that a child has hearing loss, what is the next step in eval?

Answer 45

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

Question 46

Current National Recommendation Regarding Evaluation

• Provide universal sc______ by __ month of age
• Follow-up audiologic d_______ assessment by __ months of age
• Initiation of or referral for appropriate____ intervention by __ months

Answer 46

• 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

Question 47

Hearing Loss in Young Infants

• If hearing loss is confirmed, medical and (1) evaluation should be done, and (1) should be fitted if desired.
• Information should be confirmed with the state _____ program and referral to _____ Intervention is essential.
• This should be done by _____ months of age.

Answer 47

• 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.

Question 48

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

Answer 48

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.

Question 49

Why is Hearing Loss a Developmental Emergency?

• Adept L_______ Learners
  
  • Research documents that 6- to 8-month-olds learning English can successfully dis______ 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 E_____ contrasts.
• Newborn Hearing Screening
• Untreated Hearing Loss
• ______ of Life
• Delayed in Onset of Canonical _____

Answer 49

• 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

Question 50

Review: At Birth

Make sure the in_____ hearing sc_____ is done.

If the child failed, have a _____ done and if they failed, refer to ______.

Obtain the _____ of the hearing screening from the h_____ or s____ early detection program.

Answer 50

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.

Question 51

Review: By 3 Months

Any child that has failed the initial screen or did not have the initial screen, should be screened again by __ months at the latest.

Discuss results with ______

Answer 51

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

Question 52

Review: By 6 Months

Every infant with a permanent hearing loss should be referred to ____ _______

Answer 52

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

Question 53

Review: Continued Surveillance

Make sure that at every well visit, you assure child is in an early ______ program

Make sure they have referrals to (3) if desired

Make sure am______ is discussed with the family

Remember 90% of infants with hearing loss are born to parents with _______ hearing

Answer 53

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

Question 54

Important Things to Remember about Later Onset Hearing Loss

• An infant may pass newborn hearing screening, yet still be at risk for _____ onset hearing loss. (most common cause = (1)
• If there is a positive history for hearing loss in a r______ child. Must use surveillance of hearing/language.
• A change in l______ status may signal hearing loss.

Answer 54

• 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.

Question 55

Later Onset Hearing Loss Cont.

• Par______ concern should prompt referral for audiological evaluation
• Referrals for pediatric aud____ and for sp____ or l______ evaluation may be helpful.
  
  • H_____ 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, E_ _ , oph_____, medical-g______ and early i______ services should be utilized.

Answer 55

• 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.

Question 56

Case 1 Continues

• You do a complete history and physical on this 18-month-old
• The child is significantly delayed in gross motor, fine motor, and language skills.
• The exam is remarkable for low set posteriorly rotated ears and oddly shaped pinnas.

What are you concerns about this 18 month old?

Answer 56

• Autism
• Developmental delay
• Genetic conditions
• Neuro disorder

Question 57

What referrals do you want to make?

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

Answer 57

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

Question 58

Hearing Loss Medical Work-Up: History

• Of the approximately 50% of children with hearing loss identified with a _____ disorder
  
  • 30% have 1 of the more than 400 syn_____ associated with hearing loss.
• The remaining 20% are non-syndromic and have a sp_____ gene mutation
  
  • G_ _ _ mutation screening
  • More than 120 different gene mutations have been identified, the most commonly mutated gene is (1) and the associated (1) 26 protein

Answer 58

• 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

Question 59

Medical Work-Up: Diagnostics

High resolution scanning of the ______ bones (inner ear region) has dramatically improved the ability to identify a cause for a child’s c______ _______ hearing loss (SNHL).

• In roughly 35% of children scanned because of a confirmed SNHL, an abnormality of the _____ ear can be identified as responsible for the hearing loss.
• ______ ves_____ aque____ 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 _____ homeostasis of the inner ear

Answer 59

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

Question 60

Which Diagnostic Test to Perform for Suspected Conditions

Also check for W_____ syndrome in infants diagnosed with hearing loss

Answer 60

Also check for Wartenberg syndrome in infants diagnosed with hearing loss

Question 61

Diagnostic Tests and Suspected Conditions

Answer 61

Question 62

Genetic Syndromes associated with Hearing Loss and Cardiac Problems

• Cellular energy defects
  
  • M______ disorders can affect maintenance of hair cells and are often associated with cardiomyopathy
• Ly______ st_____ diseases and other disorders affecting c______ tissue
  
  • Lead to chronic middle ear disease, with ______ hearing loss and also cause cardiac v______ disease and/or cardio_____.
• Genetic syndromes
  
  • J____ and L___-____ Syndrome
  • U_____ Syndrome

Answer 62

• 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

Question 63

Autosomal recessive long QT syndrome (LQTS)*

=

• C_______auditory syndrome
• Be aware that s______ could be a sign of dysrhythmia

Answer 63

Jervell and Lange-Nielsen Syndrome

• Cardioauditory syndrome
• Be aware that syncope could be a sign of dysrhythmia

Question 64

Jervell and Lange-Nielsen Syndrome

Prolongation of the ____ interval

• _________, including ventricular tachycardia, torsade de pointes ventricular tachycardia, and ventricular fibrillation
• Presents as s_____ or sudden _____.
• ____-deficient anemia and elevated levels of gastrin are
• Screen deaf with history of s_____ or family history of ______ death with ____ looking for long ___

Answer 64

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

Question 65

Usher Syndrome

____________ Hearing loss and _____ _______ (RP): progressive loss in ______ vision fashion leading to _____ness

Answer 65

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

Question 66

3 Types of Usher Syndrome

Match each description to each type

Type __: later onset hearing loss, 50% have balance (vestibular) dysfunction with RP between the second and fourth decade of life

Type __: profound congenital hearing loss and balance problems with RP starting around age 10

Type __: 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 66

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.

Question 67

What Law Provides for Services for children under 5

1. I____
2. Section ___ of ______ Act 1973
3. K____ B________ Act

Answer 67

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

Question 68

IDEA Review

Public law 99-457 (1975)-Individuals with Disabilities Education Improvement Act (IDEA)

• Federal government requires individual ____ to provide services for children with disabilities under the age of ____.
• Early ______ services mandated under Part C
• ____ _____ ______ ______ (FAPE) for children with disabilities ages three to five under Part B

Answer 68

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

Question 69

Case 1 Cont.

What else do you need to do for this family?

• ______ work referral (would be nice if you worked in a hospital based clinic)
• Help the mother with a _____ to the school _____-Review the IEP
• Tr_______ Services
• R______ Care depending on the situation
• Journal to write down what each ______ tells the mother-review journal notes with mom
• Be aware of risk of childhood _____ health issue- screen with pediatric s______ 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 _______
• _______ referral
• _____ group on line or in hospital

Answer 69

• 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

Question 70

Case 2

• 16-year-old male presents c/o generalized malaise and joint pain to his knees, ankles and hands for about 6 weeks.
• Has a history of fevers on/off during this period—feels flu like when he has a fever
• Had a sore throat three weeks ago and diagnosed as having “mono”.
• Continued with joint pain and swelling to his knees and ankles.
• Mom reports hands and feet look blue when he has a fever
• Soccer player and is generally considered an active child until this illness.
• No recent travel, no history of known exposure, no recent immunization and has no significant past medical history.

Answer 70

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

Question 71

What are the key points in the review of the systems that are important in this patient?

Answer 71

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

Question 72

Exam Findings of Concern

• Slightly pale
• 3-4 anterior cervical nodes 2 mm on neck
• Eyes- + mild conjunctival injection
• CV- I/VI soft systolic murmur heard best at the apex without radiation
• pulses 2+ to all extremities, color: forearms, hands and fingers with purplish hue, cool to touch with brisk capillary refill
• MS - full ROM of all extremities with POM of knees and ankles
• Mild swelling of both knees and ankles, + warmth knees and ankles

What is in your differential diagnosis?

Rheumatologic (4)

Oncologic (3)

Infectious (3)

Answer 72

Question 73

What labs do you want to collect on this patient?

Answer 73

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

Question 74

Patient’s CBC Results - What is your impression?

Answer 74

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)

Question 75

Here are the rest of the patient’s Lab Results

What does this show?

• U/A = (1)
  
  • 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 = (1)
  
  • Na 144
  • K 4.2
  • Chloride 110
  • Co2 26
  • Glucose 120
  • BUN 25
  • Creatinine 1.3
• Lyme 1.0 = negative
• EBV- = IGG+, IGM negative (1)
• ASO = +640
• ANA = +1:320
• RF = +1:45
• VDRL = negative
• CRP = 0.8
• C3 = low
• C4 = low
• DsDNA = High (1)

Answer 75

• 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)

Question 76

What is your most likely diagnosis?

1. Post strep Arthritis
2. Systemic Lupus Erythematous
3. Lymphoma
4. Systemic vasculitis

Answer 76

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

Question 77

Acute Phase Reactants

• Plasma proteins that increase during acute phase of inflammation
  
  • S______ rate (ESR)
  • C-r_____ Protein (CRP)
  • F_____
  • Anti-St_______ O Titer (ASO)
  • Proc______ (PCT)
  • C_________ (C3, C4)
  • Hapto
  • Serum A______ A
  • Autoanti_______

Answer 77

• 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

Question 78

Lupus

=

• Second most common ______ disease of childhood
• Complex and serious of the autoimmune disorders
• Female to male ratio in 0-10-year-old: __:1
• Female to male ratio in >10-year-old: __:1
• Disease is ____ before the age of 5 years
• Newborns (of mothers who have lupus) can have:
  
  • Neonatal _____
  • Complete _____ block -> lifelong pacemaker

Answer 78

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

Question 79

Effects of Lupus

Hematological (3)*

Cardiac = ____carditis, ____carditis, Libman-Sacks ___carditis, R_____ phenomenon

Constitutional = F____, Fa_____, An_____, _____denopathy

Dermatologic = M___ erythema or D_____ lesions, Alo_____ (frontal), Oral u______, ____sensitivity

GI = abdominal p____

Answer 79

Question 80

Effects of Lupus

Musculoskeletal = Arth_____, Arth_____, My____, Proximal muscle ______, Mal_____

Neurologic = S_____, Head_____, Difficulty con______, Cog_____ dysfunction, Psy____, Dep____, Decline in sc_____ performance

Renal = H___turia, P____uria, H___tension

Pulmonary = Pleur_____

Answer 80

Question 81

Rheumatological Diagnostic Labs

(1)*

• A non-specific screening test for rheumatologic disease
• Specificity
• Sensitivity
  
  • Positive in more than 95 percent of patients
• Test for the presence of (1) to cell nuclei

Answer 81

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

Question 82

Selected Problems Associated with ANA False-Positive

• Healthy individuals
  
  • _____ gender more than ____
• Systemic _______ diseases
  
  • SLE, MCTD, scleroderma, Sjögren’s syndrome, JIA
• O______ specific autoimmune disease
  
  • Dr____
    
    • INH, Minocycline, anticonvulsants, chlorpromazine
• In_______
  
  • EBV, TB, bacterial endocarditis, Malaria, Hepatitis C, Parvovirus

Answer 82

• 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

Question 83

(1)

• Highly specific for SLE
  
  • Sensitivity 60-70%
• Tests for the presence of antibodies to Smith, a ribonucleoprotein found in the cell nucleus.

Answer 83

Anti-Smith Antibody

Question 84

(1)

• Highly specific for SLE
  
  • Sensitivity 30% to 40%
• Useful measure of disease activity
• Tests for the presence antibodies to double stranded DNA.
  
  • Positive result may be associated with a greater risk of lupus nephritis.

Answer 84

Anti-double strand DNA antibody

Question 85

(1)

• Consumed in immune reactions and __crease in SLE.
• Total hemolytic complement (CH50),
• C_ and C_-most commonly used to measures SLE disease activity.
• Levels may be __creased in active SLE disease.

Answer 85

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.

Question 86

(1)

• Autoantibodies that react with phospholipids on cell membranes.
• Present in 50 percent of people with _____.
• Associated with increased risk of thr______ and n_______ disease

Answer 86

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

Question 87

(1)

• Antibodies targeted to the proteins on the stalk of the 60S ribosomal subunit.
• Highly associated with disease activity; l____, k____ and C_ _ involvement

Answer 87

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

Question 88

Pearls about Lupus

• The Anti-_____ 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 _____ in the case of active lupus.
• In this case, there are high anti-LA and high anti-RO antibodies indicative of ______ syndrome.
• This means she has a “f___-deck” of lupus symptoms

Answer 88

• 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

Question 89

Management of Lupus

• Based on organ and system involved
• Rx (1)
• S___ screens
• Avoid estrogen containing oral ________ § Cortico______
• Immunosuppressive
  
  • Ch____
  • Cellcept
  • Imuran
  • R______
  • Benlysta
  • M_______
• Preventions and supportive care

Answer 89

• 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

Question 90

Primary Care Approach: Patient Needs

What else do you want to do

• Medication and patients with Chronic illness
• Supporting Adolescents with Chronic illness
• Strength based Approach to Adolescent care
• Screen for adolescent depression using PHQ-__
• Suicide screening
• (1) Checklist is another tool.
  
  • Greater risk for depression and anxiety

Answer 90

• 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

Question 91

New Codes for Principal Care Management

Answer 91

Question 92

Revenue from Coordination of Care Management

Answer 92

Question 93

Cardiac Disease: Differential Diagnosis

Objectives

• To understand the clinical presentation of (1) in pediatric patients
• To understand the chest p____ and K______ Disease
• To be able to perform a pre-participation ______ physical

Answer 93

• 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

Question 94

You are examining a 16 year old who is complaining of shortness of breath. On exam, you note a grade 2/6 systolic murmur in squatting position which gets louder as the child stands. What is the likely diagnosis?

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

Answer 94

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

Question 95

Case 3

• John is a 19-year-old who passed out while playing golf.
• He saw his clinician who felt the syncope was vasovagal in nature.
• 3 years later, he had a strep throat and was seen at a local urgent care. The NP noted a murmur and referred him to cardiology.
• An echo revealed a markedly thickened left ventricular wall

What is the likely diagnosis for John?

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

Answer 95

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

Question 96

Acute CHF in Children

End organ hypoperfusion causes symptoms

• Decrease blood flow to _____
  
  • Renin/angiotensin based salt and water re_____ and increased circulating volume
  • Angiotensin raises B__
  • Results in ed_____
• Decrease perfusion to skin
  
  • P____ and mott____
• Di_______ during feeding
  
  • Due to catecholamine release
• Increased systemic vascular resistance
  
  • Increases myocardial demand causing ____trophy or di_____

Answer 96

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

Question 97

Causes of CHF in Children

• Con______ reduction
• Primary cardiomyopathy
  
  • ______ cardiomyopathy (HCM)
  • ______ cardiomyopathy (DCM)
  • Arr________ cardiomyopathy
  • Left ventricular (LV) noncompaction cardiomyopathy
  • Secondary cardiomyopathy
• Myocard_____
• M_
• Inflammatory
  
  • K_____ disease, systemic l_____
• Traumatic
  
  • Cardiac tam_____ or myocardial con_____

Answer 97

• 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

Question 98

History

Child

• Decreased e______ capacity
• ___tigability
• _______ of breath
• ______ gain or loss

Infant

• ____ weight gain
• Cach____
• ____nutrition
• S_______ when feeding

Adolescent

• Fa____
• C____ intolerance
• Ex_____ intolerance
• Syn____
• D____ness

Answer 98

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

Question 99

Physical Exam

What is the first sign of heart failure in children? (1)*

Why is this the first sign?

• _____pnea
• H_____megaly
• Ed_____
• As_____
• Diminish perfusion
• Pedal edema and neck vein distention are ____
• Listen for g______

Answer 99

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

Question 100

Hypertrophic Cardiomyopathy

• May have biventricular outflow tract obstruction in infancy
• Older children ___ymptomatic
  
  • May have murmur
  • P____ may be diminished as ventricular ejection is impeded
  • Listen to murmur _____ and then have the patient ___
  • MURMUR WILL greatly ___CREASE IN INTENSITY as child ______
  • This is the opposite of what you would expect

Answer 100

• 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

Question 101

HCM Murmur

Will these maneuvers increase or decrease intensity and duration of the murmur, and why?

1. Valsalva
2. Squatting
3. Raising the legs
4. Exercising
5. Standing up suddenly

Answer 101

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)

Question 102

Dilated Cardiomyopathy

Nonischemic dilated cardiomyopathy (DCM)

Left ventricle is?

Increased risk of severe (1)

• (1)– 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 (3)

Answer 102

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

Question 103

Case 4

• This is a 13-year-old seen by you for the first time.
• He was born in Peru and came to this country at the age of 6 year.
• You note a wide fixed splitting of the S2 with a 2/6 blowing quality to the systolic murmur.
• There is no signs of heart failure – list them here
• The child does report he has difficulty keeping up with peers when running around

What is the most likely diagnosis?

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

Answer 103

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

Question 104

Case 5

• A 14-year-old presents to the office with a history of on and off chest pain
• The chest pain does not occur with exercise
• It was noted for the first time two weeks ago and has occurred daily
• It seems worse when he eats a large meal.
• Let’s review the differential diagnosis

Answer 104

Chest Pain- Differential Dx

• Musculoskeletal Pain
• Respiratory Conditions
• Psychogenic Disturbances
• Gastrointestinal Disorders
• Cardiac Disease
• Idiopathic = 20-45% in some studies

Question 105

Chest Pain- Musculoskeletal

Among the most common causes:

• Strain of chest wall ______
  
  • New exercise, new activity
  • Wrestling
  • Heavy books, backpacks
• Chest wall tr_____ (bruise/fracture)
• C________ - tenderness on palpation, worse with breathing, persistent

Answer 105

• 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

Question 106

Chest Pain - Respiratory

• Overuse of the chest wall musculature from:
  
  • Persistent c____
  • As____
  • Pn_____
  • New exercise
• Spontaneous Pneumo______
• Pulmonary _______
  
  • Fever, dyspnea, pleuritic pain, cough, hemoptysis
  • More common in adolescent females
  • Oral _______ use?
  • Males with history of leg trauma

Answer 106

• 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

Question 107

Chest Pain- Psychogenic

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

Answer 107

• 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

Question 108

Chest Pain- Gastrointestinal

• Re____ esophagitis
• F_____ body
• Hiatal H______
• Subdiaphragmatic ab_______

Answer 108

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

Question 109

Chest Pain - Cardiac

Previously undiagnosed cardiac disease is rare but must be considered

• Myocardial ischemia = cor____ anomalies
• K______ Disease
• Co_____ & other drug abuse
• Arr_____
• H_______ cardiomyopathy
• M_____ Syndrome
• P___carditis

Answer 109

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

Question 110

Is Myocardial Ischemia common in children?

• Suspect if known history of c_____ disease
• K______ Disease
• Tr_________ 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 ex____
• Improves with ____ 12

Answer 110

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

Question 111

(1)

• Pain is typically acute and sharp
• May present in the anterior chest or the back depending on the area of the aorta affected
• Medical and surgical emergency
• Suspect in patients with Marfan Syndrome or Marfan body habitus
  
  • Autosomal dominant
  • Disorder of fibrillin
    
    • Chromosome 15, FBN1 gene
  • May also occur in Ehlers-Danlos, vascular type 4

Answer 111

Aortic Dissection

Question 112

(1)

• May cause severe substernal chest pain
• Described as squeezing or tightening
• Pain worse with movement, including breathing
• Patients prefer to lean forward, may refuse to lie down
• Pain is reproduced by sternal pressure
• Consider in post-op cardiac patients
• Usually, a friction rub if small or no effusion
• If large effusion, no rub but distant heart sounds

Answer 112

Pericarditis

Question 113

Pericarditis: Clinical Features

• Chest pain
• Respiratory distress, CHF, or tam_______
• Precordial “kn____” or r__ (like the sound of shoes walking on snow)
• The classic signs include exercise ______, fatigue, j_____ distension, lower extremity _____, hepato_____, ____ distal pulses, d______ heart tones, and pulsus p______

Answer 113

• 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

Question 114

Chest Pain - Laboratory

• ______ if costochondritis, muscle strain, or other benign musculoskeletal causes
• _______ if cardiac concern
  
  • Exercise
  • Palpitation
• Chest _______ if respiratory cause suspected, fever, cough, dyspnea
• _________ is generally not indicated unless rub, family history of hypertrophic cardiomyopathy, congenital heart disease

Answer 114

• 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

Question 115

Chest Pain - When to Refer

• Chest Pain with or after _____
• Chest Pain with or near s______
• Chest Pain in patient with previous cardiac d_____ or history of cardiac s_____
• Acute, sudden onset in ______ syndrome

Answer 115

• 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

Question 116

Ghent diagnostic criteria for Marfan syndrome

Any one of the following:

• Aortic root ≥__ z score and ect___ len___
• Aortic root ≥__ z score and ______ mutation
• Aortic root ≥__ z score and systemic score ≥__
• E___ l____ and _____ mutation known to be associated with Marfan syndrome
• Positive _____ history of Marfan syndrome and e_____ l_____
• Positive _____ history of Marfan syndrome and s_____ score ≥7
• Positive _____ history of Marfan syndrome and aortic root ≥__ z score in those 20 years of age).

Answer 116

• 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).

Question 117

Systemic Score for Marfan’s Syndrome

need > 7

• Wrist ___ thumb sign (3)
• Wrist __ thumb sign (1)
• Pectus c_____ (2)
• Pectus ex_____ or chest as____ (1)
• Hind_____ deformity (e.g., valgus) (2)
• Pes pl____ (1)
• Pneumo______ (2)
• D____ ectasia (2)
• Protrusio ace_____ (2)
• __creased upper-to-lower segment ratio and __creased arm-span-to-height ratio
• Sc_____ or thoracolumbar ky______ (1)
• Reduced elbow ___tension (1)

Answer 117

• 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)

Question 118

Marfan’s Syndrome Systemic Score

__ of the following Craniofacial features

• D_____cephaly
• Downward-slanting p______ fissures
• Enophthalmos = (1), retrognathia = (1), and malar hypoplasia = (1) (1)
• Skin st____ (1)
• ____opia (1)
• Mitral valve _____ (Tinkle, Saal, and the Committee and Genetics 2013)

Answer 118

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)

Question 119

Marfan’s Syndrome

A potential Marfan syndrome diagnosis includes FBN1 mutation with aortic root with

• A z score

What does a positive thumb sign look like?

What does a positive wrist sign look like?

Arm span vs. height in marfans?

Answer 119

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.

Question 120

Preparticipation Sports Physical (Cardiac Problems)

Cardiac Causes of Sudden Death

Vary with Age: Younger than 35 years

• Congenital
  
  • _______ Cardiomyopathy
  • Coronary An______
  • Aortic St____
  • Arr______ (WPW, long QT syndrome, etc)
• Acquired
  
  • Myocardi_____
  • ______ Cardiomyopathy
  • _______ Artery Disease
• Trauma: commotio cordis (cardiac con_______)

Answer 120

• 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)

Question 121

Causes of Sudden Death Non-Cardiac

• Cer_____ Aneurysm
• S______ Cell Trait
• Bronchial A______
• D____ Use
  
  • Cocaine
  • Amphetamines
  • Unknown
• Com____ Cor____ (Cardiac Concussion)

Answer 121

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

Question 122

Ethical/Social Considerations

• Provider: Attempts to identify those at r____
• School: implements c_____-effective strategies to protect their athletes
• Society:
  
  • Per_____ many sports with significant risk
  • May not be willing to bear the cost of sc_____
• Can not achieve “z____-risk”

Answer 122

• 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”

Question 123

Recommendations

Athletic screening should be performed by a h______ workers:

• Requisite Training
• Medical Skills
• Background to reliably obtain a thorough c______ history
• Perform Cardiovascular Exam
• Recognize H_____ Disease

Answer 123

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

Question 124

AHA Recommendations

• Targeted History & Physical Exam:
  
  • Identify (or raise suspicion of) c_______ lesions known to cause sudden d_____ in young athletes
  • In all high school and college aged participants prior to training
  • Repeat Full Screening every __ years
  • Interval History and BP every ___ year/s

Answer 124

• 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

Question 125

AHA 14 Point Recommendations

(what kids we should screen)

1. Chest p____ or pr______ related to exertion
2. Unexplained s_____ or presyncope
3. Dy______, f_____, or pal_____ related to exercise
4. History of a heart m____
5. Elevated blood pr______
6. Previous res______ from sports
7. Previous cardiac t______.

Answer 125

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.

Question 126

AHA 14 Point Recommendations

1. Family history of premature ____
2. Family history of dis_____ from ____ disease
3. Family history of hypertrophic or dilated ________, long-__ syndrome, or other ion channelopathies, M______ syndrome, significant arr_______, or specific genetic cardiac conditions
4. Heart mu_____ on examination
5. Femoral pulses for aortic co_______
6. Physical examination findings consistent with M_____ syndrome
7. Br_____ artery blood pressure (both arms)

Answer 126

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)

Question 127

Expectations of Screening

• Even the best H & P won’t detect everything!
• Should Detect:
  
  • Aortic ____ - systolic ejection murmur
  • _____ Syndrome - physical stigmata
• May Not Detect:
  
  • _______ Cardiomyopathy
  • Coronary Artery An______
  • others

Answer 127

• 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

Question 128

The Athlete with Symptoms

• People with symptoms during _____ Should be Evaluated thoroughly
• Chest P___ or t____ness
• Pal______ or irregular heartbeat
• S_________ is never normal during exercise
• Referral to a trained specialist:
  
  • H & P - 12-lead ____
  • Exercise ___ Test - E____

Answer 128

• 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

Question 129

Inflammatory disease of the myocardium =

• Direct in_____ of the myocardium (e.g., viral)
• T______ production (e.g., diphtheria)
• Imm_____ response as a delayed sequela of an infection (post viral or postinfectious)
• A common type is acute rh_____ fever (ARF).

Answer 129

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).

Question 130

Acute Rheumatic Fever: Jones Criteria Revised 2015

• Major criteria:
  
  • Clinical and/or subclinical carditis*
    
    • Seen on ____cardiography
  • Mono_____, poly____ and/or poly___lgia
  • Ch______
  • Er______ marginatum
  • Subcutaneous n_____
• Minor
  
  • Prolonged __ interval†
  • Mono________
  • ≥__°C
  • Peak E_ _ ≥__ mm in 1 h and/or CRP ≥3.0 mg/dL

Answer 130

• 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

Question 131

(1)

An infection of the endothelial surface of the heart, with a propensity for the valves

• Increased risk in children with artificial _____ and patches, and patients with ______ lines
• 90% of cases are caused by gram-_____ cocci.
  
  • Alpha st____, St_____ aureus, pneumococcus, group A B hemolytic streptococci

Answer 131

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

Question 132

Endocarditis: Clinical Features

• F_____
• ______cardia, C_ _ , dysrhythmia, cardiogenic sh___
• History of recent cardiac sur_____ or indwelling vascular cath_____
• Heart m_____
• Pet______, septic emb____, or spleno______

Answer 132

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

Question 133

Bacterial Endocarditis: Clinical Features

• Recurrent fevers
• S. vir_____, S. au_____
• Con______ hemorrhages
• Classic skin lesions
  
  • Sp______ hemorrhages
  • Pet______ and pur____*
  • O____’s nodes (tips, pain)
  • J______ lesions (proximal palms soles)
• Lesions caused by septic em____ and vascu____

Answer 133

• 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

Question 134

_________ 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
  
  • (1) Rx*
  • (1) Rx*

Answer 134

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*

Question 135

Kawasaki Disease Diagnostic Criteria

(Alternate criteria exists for atypical cases)

F____ > __ days

Plus 4 out of 5

• Non purulent _____tivitis
• Oral mucosal changes
  
  • Red fi______ lips
  • ________ tongue
  • Ph_____gitis
• Extremity changes
  
  • Sw_____ or p_____
• R____
  
  • Often nonspecific
  • Per_____ rash in many
• Cer_______ Adeno_____

Answer 135

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

Question 136

Prolonged QT

• 10% present with (1)
• 15% of patients with prolonged QTc ___ during their first episode of arrhythmia
  
  • 30% of these deaths occur during the ____ year of life

Answer 136

• 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

Question 137

What Else? Cardiac Causes of Syncope

• _________ 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
  • (1) is diagnostic.
• ______ cardiomyopathy
  
  • Chronic CHF
• Dys_______

Answer 137

• 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

Question 138

Critical Concepts

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

Answer 138

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

Question 139

Neurologic Disorders

Neurologic Diagnostic Tests

(4)

Answer 139

Plan Radiograph of Skull

Cranial Ultrasound in Infants and Neonatal period , Ultrasound of sacral spine

CT of head

MRI

Question 140

(1)

This test can show

• Linear fracture
• Craniosynostosis

Answer 140

Plan Radiograph of Skull

Question 141

(1)

• Done prior to three months when the ossification of the posterior vertebral elements occur.
• Can evaluate spinal anomalies including tethered cord, vertebral defects, and cord motion

Answer 141

Ultrasound of sacral spine

Question 142

(1)

This test can show

• Trauma
• Craniofacial
• Temporal bone disease
• Size of ventricle
• Bony changes of histiocytosis, neuroblastoma

Answer 142

Computerized tomography of head

Does not image posterior fossa, brain stem as well as MRI

Question 143

(1)

• Can detect intrinsic changes in water content and soft tissue of the brain.
• Can give image with high spatial resolution as well as multiple planes and three dimensional images
• Good for imaging posterior fossa and brainstem.

Answer 143

Magnetic resonance imaging

Question 144

Why are children at greater risk when getting CT scans?

Answer 144

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%

Question 145

(1)

Used to measure minutes changes in cerebral blood flow during visual, motor or verbal tasks.

• Can be useful for mapping cortical speech and motor area prior to resection of brain tumors or seizure foci
• Uses dye

Answer 145

Functional MRI (fMRI)

Question 146

(1)

• Helpful in evaluation of brain chemistry
• Helpful in determining degree of malignancy of brain tumor and metabolic abnormalities

Answer 146

Magnetic Resonance Spectroscopy (MRS)

Question 147

(1)

• Imaging blood flow in the large arteries and veins
• Can evaluate vessel patency, flow magnitude, as well as flow direction
• Images intracranial vasculature without use of angiography
• Good for aneurysms, vascular malformations, arterial trauma, and occlusive vascular disease

Answer 147

Magnetic Resonance Angiography (MRA)

Question 148

Which of the following is indicative of lower motor neuron disease?

1. Hyperreflexia
2. Hyporeflexia
3. Loss of intelligence
4. Tunnel Vision

Answer 148

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

Question 149

A 16 year old presents with occasional blurry vision. Her exam is remarkable for hyperreflexia. What is the most likely diagnosis?

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

Answer 149

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

Question 150

Neurological Physical Exam Signs and Symptoms

• _____ness
• Hyp__tonicity
• Hyp_tonicity
• Hypor_____
• D____ vision
• T____ vision
• Fas_______

In children

• Loss of dev______ milestones
• Developmental De____
• Int______ impairments

Answer 150

• Weakness
• Hypertonicity
• Hypotonicity
• Hyporeflexia
• Double vision
• Tunnel vision
• Fasciculations

In children

• Loss of developmental milestones
• Developmental Delays
• Intellectual impairments

Question 151

Which would be your first diagnostic lab to order in a child with weakness, difficulty getting up from the floor and duck walking?

1. CBC
2. Creatinine Kinase
3. Complete Metabolic Profile
4. TSH

Answer 151

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)

Question 152

Neuromuscular Diseases: Physical Assessment

• Is there ab______ breathing or ______ muscle use
• Evaluating for head ____ when pulled to sit or inability to voluntarily fl___ neck when supine
• Evaluating whether child _____ through the hand when held
• Stimulating foot and evaluate force of with_____ movement
• Watching for difficulty getting up from the ____
• Look for muscle ______ or atrophy particular calves and tongue (calves may also feel abnormally full)

Answer 152

• 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)

Question 153

(1)

Because of weakened leg muscles, boys with DMD have a distinctive way of rising from the floor

They first get on hands and knees, then elevate the posterior, then “walk” their hands up the legs to raise the upper body

Answer 153

Gower’s Maneuver

Question 154

(1)

• __-linked _______ disease
• Caused by mutations in the _______ gene (Xp21)
• Large gene → high proclivity for mutations

Answer 154

Calf Pseudohypertrophy

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

Question 155

(1)

A life limiting, muscle wasting condition characterized by progressive muscle weakness and wasting due to absence of the protein dystrophin in the muscles

• Typically presents with delayed or disordered m____ or sp____ development and muscle w______
• Over the last 10 years, improved standards of care have significantly increased the life ______

Answer 155

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

Question 156

Incidence and Prevalence

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

Answer 156

• 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

Question 157

Signs & Symptoms of DMD

• Abnormal muscle function
  
  • Delayed w_____
  • Frequent f____
  • Difficulty with r_____ and climbing stairs
  • Calf _________
• Pro_____ pro______ musculature weakness
  
  • Wad_____ gait 2° girdle muscle weakness
  • G______ sign
• Delays in attainment of developmental m________
  
  • Walking or lang_____

Answer 157

• 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

Question 158

Abnormal Labs in DMD
Elevations in (2)

Answer 158

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

Question 159

DMD Clinical Presentation

• DMD continues to be diagnosed l____
• Delayed diagnostics negatively affects access to g______ counseling, standards of care and potentially recruitment into clinical trials

Answer 159

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

Question 160

New Treatment for DMD

• Vilt_______ injection from the treatment of Duchenne muscular dystrophy (DMD) in patients
• Approximately 8% of patients with DMD have a mutation that is amenable to ex___ 53 sk_______

Answer 160

• 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

Question 161

Neuromuscular Diseases

SMA Type III =

SMA type IV =

Answer 161

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

Spinal Muscular Atrophy (SMA) type IV = Adult onset

Question 162

SMA type III (Kugelberg-Welander disease)

• Onset >___ of age
• Walk ind__________
• Type 3a: onset _____ to age 3
• Type 3b: onset _____ age 3

Answer 162

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

Question 163

SMA type IV (adult onset)

• Onset- s_______ or t____ decade
• M________ proximal muscle _____

Answer 163

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

Question 164

Case 7

HR is a 4-year-old girl from the DR, she arrived at your office with no medical records. Mom tells you that she was born floppy, had trouble breathing, and had difficulty eating. Mom said she was in the hospital for a few weeks after she was born. She is now eating well and has no difficulty breathing. On exam you note bilateral club feet and a tented upper lip in HR and her mother. You shake moms hand and she has trouble letting go of your hand?

What does this child have?

Answer 164

Myotonic Muscular Dystrophy

Question 165

Myotonic Muscular Dystrophy

(1) = the most common type of MMD seen in children, results from an abnormal DNA expansion in the ______ gene on chromosome __

• The age of onset is roughly correlated with the size of the DNA expansion
• MMD1 is caused by abnormally ex_____ stretches of DNA
  
  • The expansions effect various cells, particularly the cells of the voluntary and involuntary muscles, including the h____ and some n____ cells
• MMD1 is inherited in an autosomal _______ pattern

Answer 165

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

Question 166

Subtypes of MMD1

(3)

Answer 166

Congenital-Onset MMD1

Juvenile-Onset MMD1

Adult-Onset MMD1

Question 167

Congenital-Onset MMD1

• Begins at/or around the time of _____
• ______ muscle weakness
• C_____ impairment
• Dev______ abnormalities
• Occurs when D_ _ _ 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 167

• 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

Question 168

Juvenile-Onset MMD1

• Begins during ____hood (after birth but before adolescence)
• Cog_____ and beh______ symptoms
• Muscle _____ness
• My______ (difficulty relaxing muscles after use) and other symptoms

Answer 168

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

Question 169

Adult-Onset MMD1

• Begins in ad_______ or early ____hood
• _____ progressive weakness
• Myotonic c______ abnormalities
• M_____ to moderate cognitive difficulties

Answer 169

• 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

Question 170

MMD1 Management

• Is there a cure?
  
  • Currently enrolled for clinical trials
• Vision screening
  
  • Cat_____ & str_____ common
• Cardiac disease
  
  • Cardio_____ and arr_____
• Anesthesia concerns
  
  • High risk for c______
• Respiratory
  
  • Bi___ may be required
  • _____ pulmonary evaluation
• Cognitive & behavioral abnormalities
  
  • Neurops_____ evaluations
• Difficulty chewing and swallowing
  
  • ___ may be needed
• Insulin resistance
  
  • D______ may evolve
  • Close monitoring and management

Answer 170

• 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

Question 171

Interpreting CK levels

• Slight ______ of 1-2 times normal
• Marked elevation refer to pediatric ______ (preferably those specialize in neuromuscular disorder)
  
  • CK elevated to 500 in (2)
  • CK elevated to thousands in (1)
  • CK levels 20,000 to 50,000 with (1)
  • Normal CK does not rule out

Answer 171

• 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

Question 172

Case 8

A 7 year old with a known seizure disorder and a mild developmental delay is refusing to eat or drink. She was hospitalized for ten days.On follow up two days after discharge, the child is without any oral intake for twenty hours and no urination. The child has abnormal EOM’s but it is unclear whether or not this was there previously. She is sent to the ED of a different hospital for further work-up. Child has been followed by neurology for a seizure disorder for three years. The child had seen the neurologist 3 weeks earlier. She is admitted to a different hospital for one month. The family is investigated for sexual assault since the child tells a nurse that she and the father have a secret.

She returns to the office with one pound of weight loss and continued loss of normal EOM. Two weeks later, the child is given Amoxil for pneumonia and worsens and admitted to the hospital with pneumonia and respiratory failure. Cipro is started. She is hospitalized with pneumonia twice and each time she receive Cipro with resultant respiratory failure. Four month after the original encounter, the child is seen again and referred to a pediatric ophthalmologist is consulted about your concerns and an emergency appointment is given for two days later.

The ophthalmologist calls the neurologist with a possible diagnosis of (1). Eventually the child is diagnosed. Three separate neuromuscular physicians see the child with poor control of symptoms, despite the use of Rx (2). She is eventually started on Rx (1) with some improvement of the _____ signs and the ______ problems.

Answer 172

Myasthenia Gravis

Mestinon and Steroids

IVIG

Ocular signs and Swallowing problems

Question 173

(1)

Autoimmune Disease that causes muscle weakness relieved temporarily by exercise cessation

• Due to presence of an (1) binding to (1) at the neuromuscular junction
• Auto-antibody binds to other portions of acetylcholine receptors without binding to acetylcholine

Answer 173

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

Question 174

Myasthenia Gravis Clinical Features

• _______ weakness
  
  • Difficulty sw____
• F_____gability
• ____-pubertal children
  
  • Higher prevalence of isolated oc_____ symptoms
    
    • Lower frequency of ac_____ receptor antibodies
    • _____ probability of achieving remission

Answer 174

• 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

Question 175

Diagnosing Myasthenia Gravis

PE consistent with MG

(1) testing for ____ binding, blocking, modulating and anti-(1)antibodies

(1) testing If the blood tests are negative, what will you see happen to the muscles?

(1) test (fast acting cholinesterase inhibitor) = temporary increase in strength after this test in MG

(1) scan or (1) of th_____ if diagnosis of MG is confirmed

Answer 175

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

Question 176

Treatment for Myasthenia Gravis

• _____imab
• _____zumab = Humanized monoclonal antibody against the terminal C5 complement molecule
• ____trexate
• _____ checkpoint inhibitors = Early immunosuppresion in ocular MG and MG associated
• ________sterase inhibitors
• _____ectomy
  
  • post-pubertal children usually
• St_____ used in combination with steroid sparing agents
  
  • Eg. Azathioprine, Cyclosporine A, Cyclophosphamide, Tacrolimus, Rituximab
• IV _ _
• P_____phoresis

Answer 176

• 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

Question 177

Myasthenia Gravis Warning*

Many prescription drugs can do what to symptoms of MG?

• Eg. muscle _____ during surgery
• Aminoglycoside and quinolone ______
• Cardiac anti-_____
• Local an______
• ______ salts (milk of magnesia)

Answer 177

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)

Question 178

(1)

EXTREME episode of weakness

• Results in _______ failure and the need for (1)
  
  • 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 178

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

Question 179

Red Flags for Motor Disease

What do these signs indicate?

1. Elevated CK to greater than 3x normal values (male and females)
2. Fasciculations (most often but not exclusively seen in the tongue)
3. Facial dysmorphism, organomegaly, signs of heart failure, early joint contractures

Answer 179

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)

Question 180

Red Flags for Motor Disease

What do these signs indicate?

1. Abnormalities on brain MRI
2. Respiratory insufficiency with generalized weakness
3. Loss of motor milestones
4. Motor delays present during minor acute..

Answer 180

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

Question 181

Case 9

What neurodevelopmental disorder does this child have?

Samuel is a 40-month-old male without any speech observed during the visit. An M-CHAT R filled out by the mother was normal. During the history, you observe that the child has poor eye and does not point to the things he wants. Instead, he moves his mother’s hand to the diaper bag. She knows he wants a snack and gives him one.

You also note that he spends at least ten minutes of time, rolling the same truck back and forth. He is disengaged in any activity you attempt to do with him.

He covers his ears when there are loud sounds.

The mother reports that he is no problem as she has a very rigid routine during the day.

He is uncooperative during the physical exam

Answer 181

Patient has Autism

Question 182

Case 10

What concerns do you have about Harry?

Harry is a 7–year-old child who has not raised any concerns with his previous providers. The mother reports that his teachers are concerned that he does not call them or any of his classmates by name.

All of the developmental surveillance done, was normal. The mother reports that he had 7-word sentences by the time he was 19 months

The child is healthy appearing and following his growth curves.

He does not engage with you during the visit and has fleeting eye contact with the mother

Answer 182

Autism Spectrum Disorder

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

Question 183

DSM V: Criteria

Severity is based on the degree of:

A) _____communication and interaction impairment

B) Res_____ and rep_____ patterns of behavior

C) Symptoms must be present in _____ development (may become more manifest as social demands exceed capacity)

D) Symptom cause significantly different impairment in so___, occ_____ or other important areas of current functioning

E) These disturbances are not better explained by int______ developmental disability

Answer 183

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

Question 184

A. Persistent deficits in social communication and social interaction in multiple sites

(1)

• 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.

(1)

• Lack of communication ability via eye contact, body language, or gesture
• Atypical language, odd intonation
• LOOK FOR DECREASES IN EYE CONTACT AND GESTURE SYSTEM

(1)

• 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 184

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

Question 185

B. Restricted, repetitive pattern of behavior, interest, or activities as manifested by (should have at 2/4)

• Stereotyped or rep______ motor movements, e____lalia, idiosyncratic phrases, LOOK FOR ____ WALKING
• Insistence or sameness, inflexible adherence to r______, rit_____ patterns of verbal or non-verbal behaviors
• Highly res______, f____ interests that are abnormal in_____ or focus
• Hypo or hyper reactivity to sensory input
• VERY SELECTIVE E______ PATTERNS

Answer 185

• 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

Question 186

ASD symptoms and signs

Social reciprocity:

• Give and take of social interaction
  
  • Must recognize another person’s perspective
• Trouble establishing ______ship with peers
• May not __pathize well
• J_____ attention or ability to attend to an activity with another person is lacking
• Can’t _____ to an object (protoimperative pointing)
• Looks at m______, not eyes

Answer 186

• 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

Question 187

Body Movements asctd with Early S/S of Autism Spectrum Disorder

Stereotypic motor mannerisms after 3 years = sp___, fl_____, b_____, ___ walking

Coordinated or clumsy?

Answer 187

spins, flapping, bouncing, spinning, toe walking

Clumsiness

Question 188

Behaviors asctd with Early S/S of Autism

• Inattentive/Hy___- activity
• Imp____ behaviors
• An_____
• Self-inj_____ behaviors (biting, head banging)
• Unusual sensory seeking or avoiding
• Does not ___ if in pain
• Severe t_____

Answer 188

• 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

Question 189

Cognitive Characteristics S/S asctd with Early Autism

• Hyperlexia: reads without un_______
• Cog____ impairment (moderate IQ in the 35-50 range) 50%
• Unevenness of skills
• Splinter skills/ Sav___skills

Answer 189

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

Question 190

Early Signs and Symptoms by Age

Answer 190

Question 191

Autism Stats

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

Answer 191

• 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.

Question 192

Screening Tools for Autism

(6)

Answer 192

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)

Question 193

Global Developmental Delay and Intellectual Disability

< 5 years =

5 and older =

Answer 193

< 5 years: Global Developmental Delay

5 and older: Intellectual Disability

Question 194

Global Developmental Delay:

• Significant delay in __+ developmental domains
• Gross/fine m____, sp_____/ language, cog_____, s_____/personal, a______ of daily living
• Usually reserved for children younger than age __ years
• Those >5+ are usually assessed by __ testing which identifies intellectual disabilities

Answer 194

• 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

Question 195

Screening for Developmental Delay:

• Developmental screening at __, __, 30 months
• Use a norm-references, age appropriate screening instrument
  
  • P____
  • __es and ___es
• Positive screen prompts referral for diagnostic evaluation

Answer 195

• 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

Question 196

If delay is suspected, what is the next step?

• ______ history, including parent d______ history and function
• Review risk factors such as prem_____, co-occuring medical ___nesses
• Confirm n_____ screening results
• Formal h_____ and v_____ evaluations

Answer 196

• 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

Question 197

What is the Diagnostic Yield of Evaluation of the child with Global Developmental Delay?

• 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 gl_____ DD
• Lower rates of detection in s_____ domain developmental delay (25%) with an isolated l______ delay 5%

Answer 197

• 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%

Question 198

Guidelines for Caring for children with Global Development Delay

What is first tier testing lab evaluation for a child with global development delay?

• American Academy of Pediatrics
• American College of Medical Genetics
• American Academy of Neurology Child Neurology Society
• No guidelines is comprehensive for all clinical situations

Answer 198

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.

Question 199

Developmental Delay Workup

Answer 199

Question 200

Mitochondrial Dysfunction and ASD

• Link between ______ dysfunction and ASDs
• Persons with austistic behaviors and loss of speech after ____ illness or immunization with subsequent _______
• Con______ symptoms, hypot_____, repeated regressions after the age of 3 years
• Multiple ____ dysfunctions are clues to consider mitochondrial disease

Answer 200

• 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

Question 201

Clinical Symptoms of Mitochondrial Disorder

• Acid/base or el_____ disturbances
• _____ with an elevated mean corpuscular volume
• Cyclic v_____
• Dermatologic changes: alo____, hypertrichosis, and pigmented skin er_____
• Developmental regression associated with illness or f_____
• G_____ dysfunction, gastroparesis
• Hypo_____/dystonia

Answer 201

• 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

Question 202

Clinical Symptoms of Mitochondrial Disorder

• L____ acidosis
• Leth____
• Multis_____ involvement, especially cardiac, hepatic, or renal (physical and/or laboratory evidence)
• N_____degeneration outside of the typical ASD sp_____ loss at 18–24 months
• Poor gr____, m__cephaly

Answer 202

• 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

Question 203

PollEv Question: You are seeing a 10 year old with an intellectual disability. There has never been an identified cause. What is the next step?

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

Answer 203

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

Question 204

Adult-onset Mitochondrial Diseases

Central nervous system/peripheral nervous system

• ______ or stroke-like
• Peripheral _______
• Cranial _____ dysfunction

Visual system and auditory system

• Sensorineural d____ness (particularly onset is early)
• Progressive external ophthalmoplegia and __osis
• Painless sequential loss of visual _____-optic atrophy

Answer 204

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

Question 205

Adult-onset Mitochondrial Diseases

• Cardiac System
  
  • Cardiac conduction b____ to predisposition to arrhythmia or (1) syndrome
  • Metabolic cardio_____, either hypertrophic or dilated.
• Neuromuscular
  
  • Nonspecific exercise ______
• GI
  
  • D_____ gastric emptying with nausea and vomiting, constipation, diarrhea, and intestinal pseudo-o______

Answer 205

• 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

Question 206

Mitochondrial Disease Management

Standard of Care Rx (2)*, manage (1) side effect

Identify and treat Cardio______ = (2) tests annually until non ambulatory then every 6 months

P______ eval biannually once nonambulatory

Treat Sc_____ early!

Answer 206

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!

Question 207

Mitochondrial Disease Management

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

Answer 207

• 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

Question 208

(1)

Chronic disability of central nervous system origin characterized by aberrant control of movement of posture, appearing early in life and not the result of progressive neurological disease.

Periventricular leukomalacia is common in prematures

Answer 208

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

Question 209

Cerebral Palsy Affected Areas

1. Monoplegic =
2. Paraplegic =
3. Hemiplegic =
4. Triplegic =
5. Quadriplegic =
6. Diplegic

Answer 209

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

Question 210

Cerebral Palsy Characteristics

(1) : Involuntary movements and changes in muscle tone. Damage to basal ganglia and extrapyramidal pathways.

(1): Slow writhing movements of limbs. Extension and fanning of fingers and extension of wrist.

(1): Quick jerky movements of trunk and proximal limb muscles.

Answer 210

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.

Question 211

Cerebral Palsy: Etiologies

Most common cause?

• Inf____, ano___, toxic, vascular, Rh disease, genetic, con____ malformation of b____
• Natal (5-10%)
  
  • Anoxia, traumatic delivery, metabolic
• Post natal
  
  • Trauma, infection, toxic

Answer 211

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

Question 212

Cerebral Palsy Etiologies

• Spastic Rigidity: ____ motor neuron _____, __ tone throughout range of movement
• (1): One side of the body
• (1): UMNL of all four limbs but legs more than arms. May be symmetric or asymmetric.
• (1): only leg involvement
• (1): Equal involvement of arms and legs.
• (1): One limb

Answer 212

• 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

Question 213

Early Signs of Cerebral Palsy

1. Birth History

• ___maturity.
• Sei____.
• Low Ap___
• Intracranial hem_____.
• Periventricular leuko______.

2. Delayed _____stones
3. Abnormal Motor Performance

• Handedness.
• Rep_____ crawl.
• ___ walking.

4. Altered T___
5. Persistence of primitive re_____
6. Abnormal pos_____

Answer 213

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

Question 214

Cerebral Palsy Associated Disabilities

(1) 1/3 Normal while about 1 /2 have some (1) impairment.

• Ep_____ 20-50% > generalized.
• Sp______ disorders 50% delay/dysarthria.
• V_____ and h_____ 25%.
• Be_____ abnormalities.
• Le_____ difficulties.

Answer 214

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.

Question 215

Spastic Cerebral Palsy

• (1) in infancy
• (1)after infancy
  
  • Increase in deep tendon _____
  • Clonus
  • Abnormal p_____ reflexes
  • Commando creeping =

Answer 215

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

Question 216

Reflexes

(1)

• Infant will lift head and extend the neck and trunk
• Present by 6 months

(1)

• Present by 6-8 months
• Look for symmetric response
• Never disappears

(1)

• Anterior propping when sitting up
• Lateral propping to maintain balance

Answer 216

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

Question 217

Cerebral Palsy: Complications

• Sp_____
• W____ness
• __crease reflexes
• Cl____
• Se_____
• Articulation & Sw______ difficulty
• Vis___ compromise
• Deformation
• Hip ___location
• Kyphos______
• Con_____
• U_____ tract infection

Answer 217

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

Question 218

Diagnostic Testing in CP

70-90% of children have an (1) finding that suggests the diagnosis or treatment

• 2004 Practice Parameters from AAN
  
  • Level A: ____imaging is recommended, with (1) Preferred
  • Level B: In Children with Hemiplegic CP, diagnostic testing for _____ disorders should be considered (_____)
  • Level B: Metabolic and genetic studies should ___be routinely obtained in the evaluation of child with CP

Answer 218

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

Question 219

Diagnostic Testing in CP (cont)

• Level C: If history and findings do not determine a structural abnormality or if there are atypical features in the history or clinical examination, (1) and (1) testing should be considered
• Detection of a brain mal_______in a child with CP warrants consideration of an underlying genetic or metabolic considerations

Answer 219

• 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

Question 220

Pediatric Specific Seizure

Common Epilepsy Syndromes

• Childhood _____ epilepsy
• Benign _____ epilepsy
• Juvenile ______ epilepsy

Answer 220

• Childhood absence epilepsy
• Benign Rolandic epilepsy
• Juvenile myoclonic epilepsy

Question 221

(1)

What type of childhood seizure does this describe?

Brief seizure after falling asleep with face and shoulder twitching occasionally with preserved awareness

• School aged child 5-10
• Boys >girls
• Usually nocturnal, strong genetic disposition
• High voltage centrotemporal spike
• Can have migraines and learning disability
• Seizures are sporadic and remit in puberty
• Most AED work but you can wait to see if a second seizure reoccurs

Answer 221

Benign Rolandic Epilepsy

Question 222

(1)

What type of pediatric seizure does this describe?

Usually several months of staring and unresponsive spells

• 3-8 year old, common at 6-7
• May present with convulsion
• 3 Hz spike wave
• Strong genetic disposition
• CAN ELICIT IN OFFICE BY HYPERVENTILATION
• Important to treat
  
  • Ethosuximide (Zarontin) is excellent
  • Valproate
  • Lamotrigine (Lamictal)

Answer 222

Childhood Absence Epilepsy

Question 223

(1)

Reports early am arm and body jerks which resolve by breakfast

• Adolescent (12-18) with seizure on wakening
• Tend to recur
• Will not usually remit without anticonvulsants
  
  • Valproate (depekene)
  • Levetiracetam (keppra)
  • Zonisamide (Zonagran)

Answer 223

Juvenile Myoclonic Epilepsy

Question 224

Paroxysmal Non Epileptic Disorders

• Diverse Group
  
  • Br____ holding spells
    
    • Pallid
    • Cyanotic Breath holding spells
• (1) 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**.
• (1)
  
  • Common 5-24% with stereotypic repetitive movements or vocalization
  • Increase with anxiety, frustration
  • Diminishes with sleep
  • Spasmus Nutans
  • Benign Neonatal myoclonus
  • Shudder Attacks
  • Paroxysmal dystonic dyskinesia

Answer 224

• 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

Question 225

(1)

Anterior visual pathway disease

• Age 4-12 months
• Benign, self limited
• Clinical triad
  
  • Head tilt
  • Head nodding
  • Nystagmus-asymmetric
• Differential Optic glioma
• Anterior visual pathway disease

Answer 225

Spasmus Nutans

Question 226

Non Epileptic Paroxysmal Events: Not Epilepsy Differential

• Night terr____
• Ap____
• B______ holding spells
• Syn_____
• V______
• Migraine confusional state
• Nightmares
• H_____ventilation
• Day_______ attentional disorder
• Hyperplexia (exaggerated startle)
• Paroxysmal behavior outburst
• Ps_______ seizure
• GER
• A______ (long QT)

Answer 226

• 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)