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173 Cards in this Set
- Front
- Back
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which chromosome abnormalities are often linked to congenital heart disease?
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chromosome 22
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what are the features of achondroplasia?
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macrocephaly and short limbed dwarfism
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what are the characteristics of myotonic dystrophy?
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1. autosomal dominant
2. frontal balding 3. cataracts 4. progressive myotonia 5. infertility 6. cardiac conduction defects |
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what are the characteristics of NF1?
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café au lait spots; neurofibromas; lisch nodules; optic glioma
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ToF: NF1 is always diagnosed in the nursery?
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false; can have later onset
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what are the characteristics of Fragile X?
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mental retardation; long appearing face; large ears; macro-orchidism
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When does the macro-orchidism occur in fragile X?
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later childhood, not early on in the disease
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what differentiates segmental NF from normal NF?
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the café au lait spots follow the area of a dermatone
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what occurs in charcot-marie tooth disease type 1A?
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progressive sensory and motor neuropathy
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since charcot-marie tooth has no DTRs it is considered a __ ___ __ lesion
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lower motor neuron
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what are the characteristics of familial adenomatous polyposis?
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1. adenomatous polyps of colon
2. high risk for colorectal cancer in early adulthood |
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what is the AAP and IOM position on genetic testing?
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1. ID of the genetic condition must provide clear benefit to the child
2. systems need to be in place to confirm the diagnosis 3. treatment and follow up must be avaiable for affected newborns |
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when should genetic testing be offered to family members?
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when there is benefit to family member and no harm to the minor
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what are the 3 potential harms by gaining genetic information?
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1. stigmatization 2. psychological 3. discrimination
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BRCA 1 is follows a autosomal __ inheritance
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dominant
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what types of cancer does BRCA 1 cause?
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ovarian and breast
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ToF: BRCA 1 gene has 100% penetrance
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FALSE
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what is the recommended surveillance for a carrier of BRCA 1?
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1. monthly SBE
2. annual or semi-annual clinical breast exam beginning at age 25 3. mammography or US 4. Screen for ovarian cancer with sonogram at age 25 |
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ToF: AAP does not support the braod use of carrier testing or screening in children
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TRUE
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when should genetic testing for adult onset disease be done?
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delayed until adult hood
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familial adenomatous polyposis has an autosomal __ inheritiance and __ penetrance
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dominant; high
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ToF: with FAP, colon cancer is inevitable
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true in late 30s
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what is the screening for FAP?
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routine colonoscopy between 10-12 years
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when is predictive clinical genetic testing of children at risk for FAP done?
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between 8-10 years
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1.6% of children with FAP develop ___ by age 5
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hepatoblastoma
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what are the pros of testing for FAP?
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1. knowledge
2. reassurance 3. surveillance 4. preventative strategies can be implemented |
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what are the cons for FAP testing?
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1. psychological impact if positive
2. invasion of privacy 3. lack of utility for some types of genetic testing but not for FAP |
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what are the 3 areas of the body that are essential to assess for genetic problems
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face, hands and feet
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what are the 3 different genetic alterations that cause down's?
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1. most common is trisomy 21 (nondisjunction) 47 chromosomes with 1 extra
2. mosaicism (some cells effected and others arent) 3. unbalanced translocation often involving chromosome 21 and 14-denovo in 75%; familial in 25% |
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Who is effected with down's more, boys or girls
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equal
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what are the risk factors for downs?
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1. advanced maternal age
2. previous child with it 3. parental balanced translocation 4. parents with chromosomal problems |
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what are the characteristics on the head in downs?
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Midface hypoplasia; small brachycephalic head with epicanthal folds; flat nasal bridge; upward slanting palpebral fissures; brushfield spots; small mouth
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what occurs in the ears of downs?
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very small and tight canal
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what occurs in the neck of a downs baby?
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excessive skin at the nape of the neck
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what are the characteristic sof the hands and feet in downs?
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simian crease; short fifth finger with clinodactyly; wide space with deep fissure between the first and second toes; lymphedema;; brachydactyly
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describe the neurological manifestations of downs?
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mental impairment is variable; mild (IQ 50-70); moderate (IQ 35-50); and occasionally severe (20-35)
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what are the cardiac issues of downs?
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increase risk of congential heart defects (50%) ASD and VSD most common
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what are the GI issues of Downs?
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Hirschprungs and GI atresias
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what occurs in the musculoskeletal system of downs?
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hypotonia; acquired hip dislocations
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what are the common sleep issues with downs?
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high OSA
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what infections are downs most likely to get?
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otitis
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what are the major categories of medical problems occuring in downs?
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1. hearing problems
2. vision 3. cataracts 4. refractive error 5. obstructive apnea 6. otitis media 7. CHD 8. hypotonia and delayed tooth erruption 9. GI atresias 10. thyroid disease 11. seizures 12. hematologic 13. celiac disease |
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if a child has congenital nystagmus they are __ ___
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legally blind
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what must occur for a downs kid to be cleared for special olympics?
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must have an xray of the cervical spine to assess for its position
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Review the many primary care aspects to cover for a downs baby from 0-1 months.
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Must know these
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what must occur in primary care for a downs baby ages 1 month to 1 year?
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1. review serous otitis
2. check for strabismus, cataracts, nystagmus (by 6 months need eye appointment) 3. check neonatal thyroid screen 4. admin vaccines |
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why do downs babyes get sick more often?
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they have decreased T cell function
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what are the anticipatory guidance factors for a downs baby ages 1 month- 1 year?
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1. review G and D using right charts
2. review use of downs support group 3. emtional status of parents and intrafamily relationships 4. make sure parent understand risk of reoccurance |
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when a downs baby comes in with a fever and you cannot visualize the ear drum, what do you do?
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treat
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at __ to __ years for a downs baby you obtain radiographs for evidence of atlantoaxial instability or subluxation
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3 to 5
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what are the primary care aspects of downs kids ages 5-13?
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1. H &P
2. augdiological eval annually 3. vision exam 4. perform thyroid screen annually 5. very dry skin and other skin problems are particularly in down 5. discuss symptoms of OSA |
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what are the anticipatory guidance factors for ages 5-13 with downs?
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1. school development and placement
2. discuss socialization, family status, relationship 3. age appropriate social skill, self help skills 4. psychosexual development 5. discuss gyencological care |
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what are the anticipatory guidance aspects of a downs?
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1. transition to adult care
2. appropriate of school placement 3. recurrence risk of down syndrome if female becomes pregnant 4. group home and independent living 5. financial planning and guardianship 6. transfer of care |
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what occurs in the development of downs kids as they age?
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mental development halts in teen years, develop alzheimers in 30s
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what is vulernable child syndrome?
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a child who is sick when they are little are always considered "sick or special" even after they are well adults by their parents
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what disorder is often linked to fragile X?
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autism
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which gender is affected worse with fragile X?
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males
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what occurs in kids with the premutation of fragile X?
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normal IQ but have some cognitive and behavioral problems and can have similar to autism
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fragile X occurs from a series of repeats of trinucleotide ___
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CGG
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how many CGG repeats are consistent with fragile X?
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>200
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how many repeats of CGG is consistent with premutation of fragile X?
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50-200
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the behavior problems of fragile X are usually ___ with the affected child's cognitive level
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out of proportion
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what are the symptom clusters that are characteristic of the behavior problems of fragile X?
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ADHD; hyperactivity; inattentiveness; distractibility; restlesness; and impulsivity; OCD; perservative behavior; emotial lability; aggressive/self injuriou; temper tantrums; hypersensitivity to senosry stimuli
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where does the mutation causing fragile X occur?
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Xq27.2 at gene locus FMR1
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Autism is present in __ % of fragile X patients with full mutation
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30%
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what are the emotional problems of females with full mutation fragile X?
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higher risk of emotional problems, shyness, social avoidance, anxiety, mood lability and depression
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what are the sporadically occuring features of fragile X?
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cleft palate; strabismus; serous otitis; joint laxity (MVP); dislocated hips; club feet; seizure disorder;
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what are the abnormal behavior patterns of fragile X?
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1. hyperactivity
2. aversion of gaze 3. hand mannerisms of stereotypes 4. perservative speech |
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what is the health supervision of the MVP of fragile X?
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need echo if click is present; antibiotic prophylaxis
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what is the test to confirm fragile X?
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DNA test for the FMR-1 gene
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a trinucelotide secquence of CGG repeated <44 is __ fragile X
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NOT
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Tof: children with genetic problems tend to look abnormal
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FALSE
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when should fragile X be considered?
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with any child with the mental retardation, developmental delay, or solely a learning disability or other behavioral problem, including autism
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what is the health supervision of a child with fragile X ages 1 month to 1 year?
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observe for hypotonia, irritability, tantrums, and seizures, send to IEP
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what are the vision issues of children with fragile X?
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strabismus; myopia common; ptosis occasionally seen; nystagmus occassionally seen
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what are the orthopedic issues that can occur in fragile X?
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flat feet, scoliosis and loose joints; inguinal hernia
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what is the most important reason to diagnose Fragile X early?
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for the reproductive plans of the parents
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what occurs in the health surpervision of fragiel X ages 5-13?
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macroorchidism may be noted; continue to talk about effectiveness of behavioral interventions; review educational plan
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what causes williams syndrome?
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microdeletion of chromosome 7
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williams syndrome is present at __ and effects boys and girls ___
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birth; equally
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what are the characteristics of williams syndrome?
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dysmorphic facies; cardiovascular disease (supravalvular aortic stenosis); mental retardation; idiopathic hypercalcemia; cognitive disorder (impaired visual-spatial cognition)
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describe the characteristic facies of williams syndrome.
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1. small upturned nose
2. long philtrum 3. wide mouth 4. full lips 5. small chin 6. puffiness around the eyes 7. blue/green eyed children with WS have starburst or white lacy pattern on their iris 8. facial features more prominent with age |
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what occurs with the dysmorpthic facies of fetal alcohol syndrome
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it becomes less dominant as the child ages
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kids with WS have a remendous ___ ability
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musical
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when does the hypercalcemia of WS occur?
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usually in the first year of life, but then gets better
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what are the major characteristics of williams syndrome?
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1. ocular and visual issues (strabismus)
2. auditory hypersense (SOM) 3. microdontia 4. malocclusion 5. hypertension 6. hidney abnormalities 7. feeding difficulty 8. soft lax skin 9. joint hypermobility 10. hypercalcemia 11. early puberty |
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what does the hypercalcemia of williams syndrome lead to?
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extreme irritability, vomiting, constipation, and muscle cramps
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ToF: lifelong abnormalities of calcium and vitamin D can occur in WS
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TRUE
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WS may cause hypercalciuria and can lead to ____
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nephrocalcincosis
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ToF: an infant with williams syndrome should receive vit D supplementation, especially if breast fed
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false! Cannot tolerate it
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how many features of the 17 possible diagnostic charactersitcs are need to dx WS?
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8 of 17
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look at the diagnostic features of WS (8 of 17)
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look at the slide
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what are the neurocognitive aspects of older children with WS?
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strength in language and aiudtory memory; with a sig weakness in visual-spatial cognition
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what are the behavioral issues of older children with WS?
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1. hypersense to sound
2. sleep problems 3. ADHD 4. anxiety 5. overfriendliness and an empathetic nature are commonly observed |
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what are the primary care considerations for a child with WS?
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1. NO multivatmins because of Vit D
2. periodic cardio exam 3. screen for HTN 4. review feeding 5. hearing assessment 6. constipation screen 7. anesthesia consult for surgery (increase risk for death) |
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what are the tests to conduct in the primary care setting for a chidl with WS>?
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1. US of kidney
2. dental care 3. Thyroid function q 4 years 4. serum creatinine q 4 years 5. urinary CALICUM CREATRININE ratio q2years 6. total calcium is asymptomatic q 2years. 7 ophtho and ortho consults |
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what are the intervention strategies for children with WS?
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1. minimize distractability
2. manage sensitivity to sound 3. use obsessive thinking positively 4. more anxiety but avoid allowing them to be carried away 5. assess sadness and low self esteem 6. social skills training 7. music therapy |
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what are the 2 sex chromosome syndromes that can become evident in adolescents?
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turners and kleinfelters
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what are the connective tissue disorders evident in adolescents?
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marfan syndrome and ehler danlos
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what are 2 inherited cardiac issues found in adolescence?
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prolonged QT and cardiomyopathies
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what are the distal muscular atrophies that can present in adolescence?
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marie charcot tooth
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what are the abnormal pubertal development of turners?
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amenorrhea and lack of breast development
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what are the pubertal abnormalities of klinefelters?
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small testicles or lack of facial hair; gynecomastia that is more pronounces or persisits
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what is the diagnostic criterion of turners?
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characteristic phyiscal features in phenotypic females, with coplete or parital absence of second X chromosome, with or without cell line mosaicism
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look at the karyotype chart of turners
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karyotype chart
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what is the avg age of dx for turners
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>9
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what are the benefits of early dx of turners?
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1. prompt cardio eval
2. prevention or remediation of hearing 3. greater height because of timely GH 4. long term benefits of addressing non verbal learning disabilities 5. puberty happens with peers because of ERT inititaion |
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what are the phenotypic features of turners?
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webbed neck; thyroid disorder; CHD; elveated BP; liver disorder; renal anomalies; short stature
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what is the definition of short stature?
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> 2 SD below mean length or height for sex and chronological age
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what are the characteristics of adult height of untreated girls with TS?
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1. rarely exceeds 4 ft 7 inches; avgs 8 inches below expected norm
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ToF: most girls with TS are not GH deficient
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TRUE
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what causes the short stature of TS?
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SHOX haploinsufficency
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what can exacerbate the short stature of TS?
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poor suck, slow feeding; and frequent vomiting; hypothyroid; celiac and other comorbidities
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premature ovarian failure affects ___% of girls with TS
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90
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< __% of girls with TS achieve spontaneous pregnancy
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10
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what can help women with TS achieve pregnancy?
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ART
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where is lymphedema in TS seen most often? How long does it last?
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in hands and feet; usually resolves by 2 but may regur during GH or ERT treatment
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what are the features of TS associated with lymphedema?
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neck webbing; nail dysplasia; low posterior hairline; prominent, low-set ears with posterior rotation
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what are the common CHDs seen in TS?
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bicuspid aortic valve; dilated ascending aorta; aortic coarc;
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what are the carniofacial and orthodontic issues of TS?
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cranial base abnormalities; retrognathic face; narrow maxilla with high-arched palate; wide, micrognathic mandible; bite abnormalities; abnormal tooth developmenth; increased risk of root absorption
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what are the hearing problems seen in TS?
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conductive hearing loss in young girls due to recurrent OM; progressive sensorineural hearing loss by 35-40; may present by age 6
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what are the characteristics of the autoimmune thyroid disease of TS?
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reported as early as age 4; occurs in 24-33%; overt clinical symptoms are usually absent
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what arethe autoimmune issues of TS?
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thyroid disease and celiac
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systemic HTN of TS increases risk for___
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aortic dilation and dissection
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systemic HTN of TS is often heralded by disappearance of __ __ __
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nighttime BP dip
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what are the urinary issues that occur with TS?
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horseshoe kidney; ureteropelvic junction obstruction
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what are the skeletal issues with TS?
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cubidus valgas; short stature; webbed neck
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ToF: most girls with TS have decreased intelligence
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false: normal intelligence, although verbal IQ is higher than peformance IQ
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ToF: many girls with TS will achieve college education
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TRUE
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girls with TS with a __ __ __ __ are at increased risk for mental retardation
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small ring x chromosome
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what are the psychosocial issues for girls with TS?
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affective disorder; anxiety disorder; eating disorder; substance abuse
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what is the recommended screening for all newly diagnosed girls with TS?
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cardio; renal; hearing; assess growth, pubertal, spinal health, support groups
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what is the screening done on newly diagnosed girls with TS ages 0-4?
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1 evaulate for hip dislocation
2. eye exam by ped ophtho (if >/= 1yo) 3. ENT and audiology |
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what are the screenings done for newly diagnosed TS ages 4-10 yrs?
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1. thoird function tests and celiac screen
2. orthodontic eval (if > 7yo) 3. educational/psychosocial eval |
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what are the screening done for newly diagnosed TS ages > 10yo?
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1. thyroid function tests and celiac
2. orthodontic 3. eval for ovarian function and need for ERT 4. LFTs, CBC, FBG, lipids, Cr, BUN; BMD (if >18 yo) 5. educational and psychosocial |
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what will the FSH and LH levels be in turners?
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will be high because of neg feedback loop
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what are the goals of GH treatment for turners?
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attain normal height for age as quickly as possible; reach normal adult height
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what is the FDA approved dose of growth hormone for TS?
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0.375 mg/kg/wk
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how long is GH continued in girls with TS?
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until satisfactory heigh is attained or little growth potential remains (bone age > 14 yrs or growth potential < 2cm/y)
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what are the physical manifestations of klinefelters?
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tall stature; prolonged or unusually significant gynecomastia; lack of pubertal virilization; small testes and low testosterone; infertility; osteoporosis
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what are the developmental problems of boys with klinefelters?
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early speech delay; language based learning difficulties; ADHD; dyslexia; poor motor coordination and lack of athleticism
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what are the emottional/social problems of klinefelters?
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behavioral; shyness; poor executive function
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Marfan syndrome has __ penetrance and __ of cases are new mutations
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variable; 1/4
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marfan is an autosomal __disorder effecting the __ protein
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dominant; fibrillin
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tof: marfans has extensive clinical variablility
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TRUE
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what are the cardinal features of marfans?
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ocular, musculoskeletal and cardio
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how many points from the Ghent chart are needed for a diagnosis of marfans?
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7
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what are the 2 tools used to diagnose marfans?
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systemic scoring system Ghent chart and the revised ghent criteria for marfan syndrome
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what are the characteristics of marfans?
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thumb sign, pectus excavatum, arachnodactyly; dilation of aorta; high arched palate; ectopia lentis; abnormal flat cornea; increased axial length of globe; hypoplastic irisn causing decreased miosis; flat feet; long narrow face; cubidus valgus; short trunk;
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what is seen on MRI in marfan's syndrome?
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lumbosacral dural ectasia
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what are the skin abnormalities of marfans?
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striae atrophicae; recurrent or incisional hernia
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what does flat feet in marfan's reflect?
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hypermobility
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what are the differential diagnoses for Marfan's syndrome?
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MVP; ehlers-danlos (vascular type); Homocystinura; stickler syndrome; fragile x; loeys-dietz syndrome
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why is ehler-danlos vascular type a diff for marfans?
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can have aortic rupture
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why is homocystinuria a diff for marfans?
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marfans has elevated homocystine in urine; has ectopia lentis; skeletal like marfans
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why is stickler syndrome a diff for marfans?
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can have severe retinal detachment and skeletal dysplasias; severe myopia; hearing loss; cleft palate; midface hypoplasia
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why is the kyphoscoliotic form of ehlers-danlos a diff for marfans?
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can have MVP; body similar, kyphosis; joint laxity; rupture of medium sized arteries; blue sclera
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why is fragile x a diff for marfans>
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often tall; long face; joint laxity; mild dilation of aorta; MVP; pectus excavatum; varialble intellectual disability
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when does the aortic dilation of marfans usually occur?
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by age 40
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why is loeys-dietz syndrome a diff for marfans?
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hypertelorism; blue sclera; aggressive dilation of large arteries; ectopic lentis; skeletal and cardio features match marfans
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ToF: marfans has severe intellectual impairment
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false; none
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where does the defect occur in ehlers-danlos?
|
collagen fiber structure
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what are the major criteria for ehler danlos syndrome?
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1. hyperextensibility
2. widened atropic scars = tissue fragility 3. joint hypermobility 4. one or more are required for diagnosis |
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what are the minor criteria for ehlers-danlos?
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1. smooth velvety skin
2. molluscoid pseudotumors 3. complication of joint hypermobility 4. easy bruising 5. muscle hypotonia 6. signs of tissue extensibility and fragility 7. positive fam history |
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what are the multiple types of ehlers-danlos?
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classical types; hypermobility type; vascular type LESS COMMON: kyphoscoliosis type; arthrochalasia type; dermatosparaxis type
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describe the cutaneous fragility of ehlers-danlos,
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1. easy splitting of the skin in classic type
2. gaping, "fish-mouth" or cigarette paper" scars follow 3. with minimal trauma over sites of bony prominence and areas prone to trauma such as the forehead, chin, elbows, knees and shin, thin scars result |
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what does ehlers-danlos often mistaken with?
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abuse
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what can occur with ehlers-danlos in childbirth?
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ruptured uterus
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what are other characteristics of ehlers-danlos?
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MVP; rupture arterial/uterine/intestinal due to tissue fragility; hernias; scoliosis; gum disease; GI diverticulae; blue sclera
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describe molluscoid pseudotumors of EDS.
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firm, fibrous lumps measuring up to 2-3 cm which develop over pressure points such as the elbows and knees
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what are the joint characteristics of EDS?
|
hypermobility assessed by brighton scale (score of 5/9=hyper); dislocation and subluxation; chronic joint and limb pain
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what are the aspects of the brighton scale for hypermobility?
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1. passive dorsiflexion of little finger beyond 90 degress
2. passive apposition of thumbs to flexor aspect of forearm 3. hyperextension of the elbows beyond 10 degrees 4. hyperextension of the knees beyond 10 degrees 5. forward flexion of the trunk with knees fully extended so that palms can rest on the floor |
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what are the characteristics of angelman syndrome?
|
Cannot speak!!! Do not comprehend speech; not cognizant of danger and are avid wanderers.
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