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2024 NU665 FINAL EXAM WITH CORRECT ANSWERS
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2024 NU665 FINAL EXAM WITH CORRECT ANSWERS
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2024 NU665 FINAL EXAM WITHCORRECT ANSWERS
Genetic counseling - CORRECT-ANSWERS-One specific aspect of the genetic
specialist referral
-Families need to consider genetic information when making health-related
decisions that can affect their personal physical and reproductive health, as
well as the lives of their child, other children, and extended family
-Facilitates family's understanding of the diagnosis of concern, its course and
management
-Also, of how genetic/genomics influence the disorder
-Help families choose a plan of action
-Assists individuals and families to cope with a diagnosis, its prognosis, and
the risk of recurrence
Creating an emergency plan - CORRECT-ANSWERS-A set of instructions that
outlines when, where, who, and how to contact emergency personnel should
their child need emergent care
-This can be in letter form for the family to use when needed
-Should identify the child's diagnosis, clinical findings/status, current
medications, allergies, and immunizations
-Also need to highlight common presenting problems/findings with specific
management strategies and professional pediatric and subspecialty contact
information, especially for emergency care providers who may have limited
knowledge regarding congenital and/or inherited disorders
-An illness or surgical procedure may become life-threatening if certain
precautions are not attended to
Primary care for children with congenital and inherited disorders - CORRECT-
ANSWERS-Many will be covered under CYSHCN - children and youth with
special health care needs - as they are at an increased risk of chronic
physical, developmental, behavioral, or emotional conditions and may
require added health-related services
-May require an array of subspecialty services in the hospital as well as in
the community and at school
-PCP - assists families with upfront identification of specialists, refers when
services are needed, and maintains ongoing communication so that
recommendations can be followed and reviewed with the child/family
-AAP committee on genetics developed specific health supervision guidelines
that highlight the most important management guidelines for these children
,- needs by age, cautions, syndrome-specific growth charts, vaccine
considerations, and current/emerging research findings
General guidelines for caring for children with congenital and/or inherited
disorders - CORRECT-ANSWERS-They need support and guidance in coping
with the new diagnosis and interpreting the myriad of information they have
been receiving
-PCPs need to be aware of regional resources so they can refer families
-Genetic alliance - useful PCP/family resource containing a tool called disease
InfoSearch; information on congenital or inherited disorders manifested in
children along with links to education materials as well as advocacy and
support organizations
-The PCP must remain in contact with specialists caring for the child in order
to coordinate local care and provide access to health, social, and spiritual
support for the family
-They should also advocate for parents who face significant challenges
managing health care, daily care, and educational needs for their child
-The PCP should be familiar with recurrence and occurrence risks for the
child's disorder as it may have implications for siblings
NORD - CORRECT-ANSWERS-National organization for rare disorders
-Introduction for parents and caregivers to specific rare diseases
-Gives synonyms, signs/symptoms, causes, affected populations, related
disorders, diagnosis, therapies
Components of medical necessity letter - CORRECT-ANSWERS1. Identifying
information about child - name, parent/guardian, insurance policy, DOB
2. Identifying information about provider - name and credentials, relationship
to child, length of time caring for child
3. Date of last patient visit - and reason
4. Diagnoses
5. Pertinent medical history
6. Pertinent medical, developmental, or evaluative information
7. Why product/treatment/evaluation is medically necessary
8. Summary statement
Transition to adult care - CORRECT-ANSWERS-Starting at age 12
-Important for all children; very important for congenital and/or chronic
physical and medical conditions
Homozygous recessive - CORRECT-ANSWERS-The organism has two copies of
the same allele for a gene
-The organism is recessive if it carries two copies of the same recessive
allele
, Down syndrome - CORRECT-ANSWERS1. Clinical findings - short stature,
brachycephaly, midface hypoplasia with flat nasal bridge, brushfield spots,
epicanthal folds with upslanting palpebral fissures, small mouth with
protruding tongue, myopia/cataracts, small ears/narrow canals, extra skin at
nape of neck, lax joints (atlantoaxial instability), short broad
hands/feet/digits, single palmar crease, clinodactyly, exaggerated
space/plantar groove between great and second toes, congenital heart
disease
2. At risk for leukemia, hypothyroidism, Alzheimer disease
3. Neurodevelopmental cues - intellectual/cognitive/disability/developmental
delays, hearing loss, hypotonia (infant)
4. Careful review of newborn screen for hypothyroidism; annual and/or
systematic screening for hypothyroidism
5. Careful review of newborn CCHD with ongoing cardiac evaluations
6. Monitoring growth using syndrome specific growth chart
7. Ongoing ophthalmologic exam for cataracts
8. Careful review of newborn hearing screen, following by otologic/hearing
evaluation
9. Monitor for OSA
10. Increased risk of duodenal atresia
11. High risk of atlantoaxial instability - if signs of cervical myelopathy,
obtain radiograph, refer to neurosurgery
-Diagnosis includes an xray
-May have changes in ambulation, ability to use upper extremities,
complaints of neck pain, a new fixed head tilt, bowel or bladder dysfunction,
or new unexplained weakness
-No soccer, skiing, gymnastics, diving, judo, snowboarding; they can do
noncontact sports
12. Monitor for neurological disorder - infantile spasms, seizures, moyamoya
malformation
13. Systematic screening for celiac disease
14. Increased risk for leukemia
Neurofibromatosis - CORRECT-ANSWERS-Multisystem disorder primarily
involving skin and nervous system
1. Two or more of the following are required
-6 or more cafe-au-lait spots 5 mm prepuberty/15 mm postpuberty
-2 or more neurofibromas or 1 plexiform neurofibroma
-Axillary or inguinal freckling
-Optic glioma
-2 or more lisch nodules (iris hamartomas)
-Associated osseous lesion
-First degree relative with NF1
2. Learning, speech/language, and motor abilities vary
3. Autosomal dominant
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