Genetics/Development Flashcards
Define Newborn
<1 month
Define infant
2-36 months (3 yrs)
Define Toddler
36 months-60 months (5 yrs)
Define Appropriate for Gestational Age
BW 10-90th %
2500-4500 grams
Define Large for Gestation Age (LGA)
BW >90th %
Define Small for Gestational Age (SGA)
BW <10th %
Define Low BW
<2500 grams= 5lbs. 8 oz
What % of wt loss will most infants lose by days 3-5? When should they regain this weight back?
4-7%
Regain by day 14
BW __ by 6 months of age
Doubles
BW__ by 12 months of age
Triples
How much weight does an infant gain per day?
20-30 grams= 1 oz/day
List the two reasons for Macrocephaly
- Hydrocephalus: Dandy Walker obstruction
2. Increased ICP
Define Cushing’s Triad
- Bradycardia
- HTN
- Irregular breathing
*Increased ICP
What is the MCC of Microcephaly?
Toxins= Alcohol (FAS)
If you have ANY language concerns, what should you check?
HEARING
List the Syndromes associated with hearing loss
- Waardenburg Syndrome-“White forelock” (pigmentation problem)
- Alport Syndrome: Renal-Hematuria, proteinuria, HTN
At what age do children start using single word vocab?
24 months
Onset of Autism?
BEFORE 3 years old
What screening test is used in Autism?
M-CHAT @ 18, 24, 36 months
Identifies children @ RISK
does NOT provide dx
List the two types of Loss of Joint Attention seen in Autism
- Proto-Imperative pointing: @12 mos
2. Proto-Declarative pointing: @ 14 mos
What is the MC Genetic Cause of Mental Retardation (MR)?
Down syndrome
What is the MC Familial Cause of Mental Retardation (MR)?
Fragile X Syndrome
What is the MC Preventable Cause of Mental Retardation (MR)?
FAS
Define Night Terrors
Non-Rem
Autonomic Stimulation
NOT able to recall episode
Define Nightmares
REM sleep
Able to recall episode
At what age do Blue Spells peak? What provokes them?
2 years
Provoked situation or upsetting event
What type of mutation is Phenylketonuria (PKU)?
Enzyme mutation of-Inability to translate Phenylalnine to Tyrosine
Autosomal Recessive
PKU si/sx’s
- Mental Retardation
- Fair skin (melanin impairment)
- Sz’s
- Mousy odor
Define Penetrance
Probability that individuals in a population who have a particular gene will SHOW the condition
Define Expressivity
Affected individuals may show varying degrees of phenotypic expression= Severity
When do you perform maternal serum screening?
2nd trimester: 15-20 wks
Define Polyhydraminos
> 2 L
Polyhydraminos etiology
- Duodenal atresia
- Gastrochisis
- Omphalocele
What are the complications/effects of Oligohydraminos?
Horseshoe kidney
Causes for increased AFP levels
- Anencephaly
- Spina Bifida
- Abdominal wall defects
Causes for decreased AFP levels
- Trisomy 21-Downs
2. Trisomy 18-Edwards
When should you suspect Down Syndrome in an infant?
“Floppy baby”-Hypotonia
Cardiac findings in Down syndrome?
AV Canal
GI findings in Down syndrome?
Duodenal atresia/stenosis:
- Bilious vomiting hrs after birth
- “Double bubble” sign on CXR
Endocrine findings in Down syndrome?
HYPOthyroidism-Screen with TSH!
What do you need to make sure you obtain FIRST before releasing a child with down syndrome to participate in sports? Why?
Neck X-ray d/t atlantoaxial instability
Define Trisomy 18. Features?
Edwards Syndrome:
- Clenched hand w/ overlapping fingers
- Rocker-bottom feet
- Poor prognosis
Turner syndrome genetic mutation?
Monosomy-XO
Renal findings in Turner syndrome?Screening test for this?
Horseshoe kidney
*Renal US
Cardiac findings in Turner syndrome? Screening test for this?
- Co-arctation of aorta: HTN + Decreased LE pulses
- Associate bicuspid aortic valve
*Echocardiogram
FISH testing is best used in what disorder?
DiGeorge Syndrome
When do you do the first screening test in infants?
After 24 hrs of life (hospital)
When do you do the second screening test in infants?
5-14 days post gestation (clinic)
Congenital Hypothyroidism newborn si/sx’s
- Larger posterior fontanelle
- Prolonged Jaundice
- Macroglossia
- Hoarse cry
- Umbilical hernia
- Constipation
Congenital Hypothyroidism childhood si/sx’s
- Mental retardation
2. Poor growth
What screening test do you use in Congenital Adrenal Hyperplasia
17-OH Hydroxylase (increased)
What is the classic presentation of Congenital Adrenal Hyperplasia in both males and females?
Salt Wasting Syndrome: Vomiting, shock, dehydration
- Hyperkalemia
- Hyponatremia
- Hypoglycemia
Prader-Willi syndrome genetic mutation
Inherited by father: Paternal allele
Deletion of chromosome 15q11-q13
Prader-Willi syndrome si/sx’s
- Obesity*
- Hyperphagia
- Small hands & feet
- Intellectual disability
- Infant: Hypotonia, FTT
AngelMan Syndrome genetic mutation
Inherited by mother (maternal allele)
Deletion of chromosome 15q-q13
AngelMan Syndrome si/sx’s
- “Happy puppet”-Jerky ataxia movements, uncontrollable bouts of laughter
- Seizures
- Fair hair
- Intellectual Disability
How do you test/screen for AngelMan Syndrome & Prader-Willi syndrome?
FISH probe
Define Maple Syrup Urine disease
Autosomal Recessive
Deficiency of decarboxylase= Increased LIV products
Define Maple Syrup Urine disease si/sx’s
- Urine & hair smells like syrup
2. CNS: sz’s, lethargy, coma, opisthotonos
Maple Syrup Urine disease treatment
- Dietary restriction of LOV
2. Enzyme replacement
Tacyh-Sachs Disease etiology
Hexoamindisase A deficiency= Elevated GM2-Ganglioside
Who is Tacyh-Sachs Disease MC in?
Jews & French Canadians
Tacyh-Sachs Disease si/sx’s
- Blind
2. Clumsy & awkward
What is the MC type of Osteogenesis Imperfecta? Si/sx’s?
Type 1
- Blue sclerae
- Brittle bones
- DEAFNESS-Hearing tes!
