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87 Cards in this Set
- Front
- Back
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NBS Testing
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Time accumulation test, based on accumulation in blood. At least 24 hours of age, time sensitive. If before 24 years of age has to be redone in 2 weeks.
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Does a positive test need to be confirmed?
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Yes
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If the test is positive, is the disorder present?
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Not always, High sensitivity results in increased false positives, resulting in lower specificity.
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If the test is negative can the disorder be present?
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yes, need to monitor infant and look for signs and symptoms
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Oklahoma Screening Tests
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Phenylketonuria (PKU)
Congenital Hypothyroidism (CH) Galactosemia Hemoglobinopathy, Sickle Cell Disease Congenital Adrenal Hyperplasia Medium-chain Acyl-CoA Dehydrogenase Deficiency Cystic Fibrosis |
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PKU Etio
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Autosomal recessive disorder
Excessive build-up of phenylalanine Decreased activity of phenylalanine hydroxylase (the enzyme that coverts phenylalanine to tyrosine) On a normal neonatal diet, infants develop hyperphenylalaninemia |
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PKU S/S if untreated
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Non-fatal
Severe mental retardation (MR) Hyperactivity Spasticity Seizures Eczema and light skin pigmentation Urine has “mousey odor” Autistic-like behavior |
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PKU Testing
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Perform test 24h after birth
If screened <24h, rescreen by 2 weeks of age Work-up of abnormal results: Serum phenylalanine Serum tyrosine |
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PKU Treatment
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Dietary Restriction of phenylalanine
Monitor levels Treatment and Follow-up Guidelines Late Treatments Will not reverse MR May cause improved behavior control |
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PKU Treatment & Follow-up Guidelines
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Management by team: physician, metabolic or clinical geneticist, nutritionist, genetic counselor
Immediate dietary therapy & supplemental tyrosine Monitoring of amino acids, growth & development, & diet with adjustment of Phe/Tyr needs 1st year follow-up Regular visits to treatment centers Weekly Phe & Tyr levels for the 1st month Biweekly to triweekly levels for the 1st 2 years of life (goal: Phe at <6mg/dL) |
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Congenital Hypothyroidism (CH) Causes?
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Agenesis or ectopic thyroid (85%)
Hormonogenesis disorder (10-15%) May be autosomal recessive trait Pituitary or Hypothalamus defects (<5%) Most common neonatal metabolic disorder; #1 preventable cause of mental retardation in kids |
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Congenital Hypothyroidism Pathophysiology
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Hypothalamic-pituitary-thyroid axis
Functions at 20 weeks Matures by birth Appear normal at birth Protected by placental transfer of maternal thyroid hormone Even with congenital absence of the thyroid gland, most newborns appear normal at birth and gain weight normally for the first 3-4 months of life Diagnosis should be based on newborn screening and not on abnormal physical findings |
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Congenital Hypothyroidism S/SX
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Mental retardation
Mean IQ = 80 Poor growth Large tongue, hoarse cry Facial puffiness, goiter Low metabolic rate Bradycardia, constipation, lethargy Poor peripheral circulation |
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Congenital Hypothyroidism Testing
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Assessment of
serum T4 (thyroxine) decreased TSH (thyroid-stimulating hormone) increased 10% of cases are detected at a 2nd screening at 2-6 weeks |
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Congenital Hypothyroidism Treatment
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Levothyroxine
To start in 1st weeks of life Monitor growth & development monthly Frequent lab evaluations FU with pediatric endocrinologist |
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Galactosemia
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Autosomal recessive disorder
Inability to metabolize galactose Classic cause = deficiency of galactose-1-phosphate-uritransferase (GALT) Build up of galactose-1 phosphate in the liver and renal tubules Glucose+lactose=galactose |
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Galactosemia S/SXs, if untreated
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Within 2 weeks:
vomiting, lethargy, jaundice, hepatosplenomegaly, cataracts, failure to thrive (FTT) E. coli sepsis may result Fatal as a result of liver failure, sepsis or bleeding If survived, have cognitive & developmental disabilities If galactosemic infant is given milk, unmetabolized milk sugars build up and damage the kidneys, liver eyes and brain |
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Galactosemia Testing
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Plasma galactose
High RBC galactose-1-phosphate High Needs to be measured after milk ingestion Galactose-1-phosphate uridyl transferase Low in classic galactosemia Can be measured at any time Renal Tubular Dysfunction Galactosuria, proteinuria, aminoaciduria Liver Dysfunction Elevated conjugated and unconjugated bilirubin, elevated LFTs, coagulopathy |
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Galactosemia Treatment
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Galactose-free diet ASAP & continued through life
Lactose-free diet Calcium supplementation |
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Sickle Cell Disease, Hemoglobinopathies
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Affects RBC
Inherited defects of hemoglobin Substitution of valine for glutamine on beta globin chain Alters structure of Hgb molecule |
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Sickle Cell Disease, Hemoglobinopathies
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Autosomal recessive disorders
Single abnormal gene (heterozygotes) have a hemoglobin trait and are carriers |
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Sickle Cell Genetics
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2 abnormal genes (homozygotes) have the disease
3 major types: HgbSS (sickle cell disease) HgbSC (combined heterozygosity for Hgb S and Hgb C) HgbS thalassemia (sickle cell beta thalassemia) |
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Hemoglobinopathies S/SX
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Symptoms evident by 6 months
Lifelong hemolytic anemia Splenic sequestration of RBCs Vasoocclusive events Dactylitis – most common initial sx of disease Aseptic necrosis Leg ulcers, priapism – erect penis that does not return flaccid CVA Acute Chest Syndrome Aplastic crises Sepsis |
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Hemoglobinopathies Treatment
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Penicillin prophylaxis
125mg BID by 2months of age for SS or S 250mg BID starting age 2 until 5 May consider d/c prophylaxis at age 5 Pneumococcal vaccine in addition to regular vaccinations At 2 & 5 years of age Hydroxyurea Consultation with pediatric hematologist or sickle cell center Febrile illness Admission Blood cultures Broad-spectrum parenteral antibiotics Infection is the most common cause of death Children- respiratory infections Adults- underlying chronic organ injury infections |
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Congenital Adrenal Hyperplasia
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Autosomal recessive disorder
21-hydroxylase deficiency Abnormalities in adrenal steroidogenesis impaired cortisol production increased ACTH secretion Adrenal hyperplasia increased production of androgens Incidence is 1/15,000 births 3 cases in OK 1991-2005, all in 2005 Alaska higher incidence |
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Congenital Adrenal Hyperplasia- Clinical Features
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Masculinization of female genitalia, early virilization in boys, early accelerated growth
In more severe cases, the infant develops a salt-losing crisis in 2-4 weeks of life Hypovolemia Hyponatremia Hyperkalemia Treatment: glucocorticoids & mineralcorticoids Surgery: Female genital reconstruction |
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nephrology of CAH
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Cortisol, testostersone, aldosterone
Aldosterone primary promotor of sodium reabsorption in tubules, also promotes potassium secretion. Too much aldosterone high sodium, low potassium leads to high volume status |
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Medium-chain Acyl-CoA Dehydrogenase Deficiency
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Fatty acid oxidation disorder
Clinical manifestations develop when healthy appearing infants that do not eat for a prolonged period or have increased energy requirements have impaired fatty acid oxidation leading to fatty acid buildup Hypoketotic hypoglycemia Hyperammonemia Hepatomegaly Splenomegaly Sudden death (SIDS?) |
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Medium-chain Acyl-CoA dehydrogenase Deficiency
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Management
No cure Prevent hypoglycemia Do not go long periods of time without food (10-12 hours) Provide carbohydrate rich snack before bed |
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Cystic Fibrosis
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Autosomal recessive disorder of exocrine glands
13% mortality rate among infants Growth retardation, FTT, malabsorption – pancreatic insufficiency, pulmonary infections Treatment: pancreatic enzyme replacement, fat soluble vitamins, bronchodilator therapy, tx of lung infections |
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Hearing Screening
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Why screen?
Normal hearing is essential for normal language development Significant bilateral hearing loss is present in 1-3 infants/1000 With early remediation by 6 months, language and social development are consistent with physical development MOST COMMON birth Disorder |
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Early Hospital Discharge
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Decreased reliability in screening results when discharged early (<24h)
Recommended to draw close to discharge time, but no later than 7 days. If specimen collected before 24h, get repeat screen within 2 weeks. |
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Malformation:
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a primary structural defect of an organ or part of it from an inherent abnormality in development (ie cleft palate).
single abnormality |
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Disruption:
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an abnormal structure of an organ or tissue from external factors disturbing the normal developmental process
single abnormality |
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Deformation:
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a defect from an abnormal mechanical force distorting an otherwise normal structure
single abnormality |
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Dysplasia:
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an abnormal organization of cells into tissue
single abnormality |
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Multiple Abnormalities
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sequence, syndrome, association
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multiple abnormalities from a consequence of a cascade of events initiated by a single primary factor, can often be a single organ malformation
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sequence
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: consistent and recognizable patterns of abnormalities often from a known underlying cause.
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syndrome
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malformations tend to occur together more often than expected by chance. Lack of consistency and underlying explanation.
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association
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Approach to Child with Abnormal Facies
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Conduct careful clinical evaluation
Review family, prenatal history, and perinatal history Obtain diagnostic studies Imaging studies: x-rays Laboratory studies: chromosome, DNA, biochemical assays Provide medical management and genetic counseling. |
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Trisomy 21 (Down syndrome)
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MC chromosomal abnormality
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Down Syndrome clinical features
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Clinical Features
Flattened facies Low set, small ears Upward- slanting eyes Large tongue Brushfield spots in eyes Also have heterochromia Esophageal, duodenal atresia Palms have prominent simian creases Short fingers ASD common heart defect- 50% Hypotonia and delayed motor skills Congenital hypothyroidism Higher rate of leukemia (15 – 20x higher) |
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DS MGMT, annual exams?
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TSH
Audiology- congenital hearing loss Risk of serous otitis media (50%-70%) Cardiology- ASD Ophthamology |
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Klinefelter’s Syndrome (XXY)
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Condition in which males have an extra X sex chromosome
also associated with advanced maternal age |
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XXY clinical features
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Clinical features
Initially tall, thin and long-limbed. Become obese as adults Scoliosis Ataxia Expressive language disorder Mild developmental delay Clinical Features Males- small penis, hypoganodism (decreased testicular hormone), gynecomastia, scant pubic/facial hair Infertility Some degree of language and learning impairment |
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Fragile X syndrome
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X linked recessive
Most common cause of mental retardation in males |
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Fragile X syndrome Clinical Features
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Blue eyes, blond hair
Long narrow face Large protruding ears, jaw Flat feet Hyperextendible fingers Prepubertal large gonads Moderate-severe mental retardation Disorganized speech, hyperactive MVP – mitral valve prolapse |
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Fragile X mgmt
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ST,OT, PT
Behavioral intervention Neurologist- if seizures persistent Cardiologist- MVP |
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Turner’s Syndrome (Monosomy X)
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1 in 2,000 female live births
Only present in females. Missing or partially missing an X chromosome |
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Turner’s Syndrome (Monosomy X) Clinical Features:
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Clinical Features
Short stature Webbed neck Prominent ears Broad chest Triangular facies Short stature, square appearance |
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Turners, Fragile X, Downs heart problems
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Turner’s - Coarction of the aorta
Fragile X – mitral valve Downs – atrial septal defect |
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Turner’s Syndrome (Monosomy X)
common characterisitcs |
Common characteristics
Hearing impairment Visual and spatial perceptive disabilities Absence of secondary sex characteristics Primary amenorrhea Ovarian dysgenesis Cognitive deficits Visuospatial, mathematic, memory |
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Turner’s Syndrome (Monosomy X) heart and kidneys?
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Cardiac characteristics
Coarctation of the aorta Aortic stenosis Horseshoe kidney |
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Beckwith-Wiedemann syndrome
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Chromosome 11p15
Clinical Features Macrosomia – abnormally large Hypoglycemia during infancy Creases and pits in earlobes Asymmetrical limbs Organomegaly Macroglossia Omphalocele – defect in abdominal wall, |
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Beckwith-Weidemann syndrome at risk for
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At risk for Wilms’ tumor and hepatoblastoma
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Prader-Willi syndrome
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Chromosome 15q11
Incidence 1 in 25,000 live births Associated growth hormone deficiency |
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Prader-Willi syndrome clinical features?
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Small for gestational age
Hypoganadism Small hands and feet Almond-shaped eyes Hypotonia-severe in infancy Polyphagia with eventual obesity, “insatiable appetite”, develops around age 2 - 4 Clinical Features Mental retardation Short stature Strabismus |
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Prader Willi complications
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DM
Pickwickian Syndrome |
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Prader Willi syndrome MGMT
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Geneticist
Endocrinologist Nutritionist Ophthalmologist- strabismus |
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Angelman’s syndrome
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Chromosome 15
Incidence Unknown but estimated between 1 in 15,000 to 1 in 30,000 live births Usual diagnosis between ages 3-7 |
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Angelman’s syndrome Clinical Features?
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Clinical Features
Severe mental retardation Marked developmental delay Poor language skills Paroxysmal laughter Excessive happiness Tongue thrusting Seizures Abnormal gait, “puppet-like” Abnormal posture Strabismus Prognathism (protrusion of mandible |
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MGMT of angelmans?
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Neurologist- seizures
Orthopedist- gait ST, OT, PT |
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Night mares
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REM
Later Can trigger: Antihistamines and HTN |
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Sleep walking
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4-8 years
Environment free of obstacles Doors to outside are locked Bell on childs door |
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Sleep onset association disorders
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dependent on favorable conditions, rocking, nursing etc
So resist attempts to put off bedtime Don’t engage in night time awakenings Baby to sleep when groggy, so have ability to fall asleep on own so you don’t get in habit f rocking them to sleep |
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PKU Incidence
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Incidence- 1:10,000 live Caucasian births
Ireland 1:4500 Confirmed cases in OK from 1991-2005 = 36 |
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Congenital Hypothyroidism Incidence
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Incidence: 1: 3,000 to 1: 4,000 in the U.S.
Most common neonatal metabolic disorder |
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Galactosemia Incidence
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Incidence 1:40,000 live births
In OK from 1991-2005, 11 total cases |
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Sickle Cell incidence
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1 out of 400 African American infants
8% of African Americans have sickle cell trait |
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CAH Incidence
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Incidence is 1/15,000 births
3 cases in OK 1991-2005, all in 2005 Alaska higher incidence |
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Medium chain Acyl CoA dehydrogenase deficiency incidence
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1-9000 live births
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DS Frequency
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1 in 760 live births
2/3 of Down fetus spontaneously abort Frequently associated with advanced maternal age. < 25y/o- 1/1600 >40 y/o- 1/80 However, more kids with Trisomy 21 are born to young mothers MC Chromosomal abnormality |
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XXY incidence
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Incidence
1 in 1000 live births Condition in which males have an extra X sex chromosome |
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Fragile X syndrome Incidence
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1 in 1000 male live births
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Turner's syndrome ( Monosomy X) Incidence
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1 in 2,000 female live births
Only present in females. Missing or partially missing an X chromosome |
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Beckwith-Wiedemann syndrome
incidence |
Chromosome 11p15
Incidence 1 in 15,000 live births |
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Prader willi syndrome incidence
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Chromosome 15q11
Incidence 1 in 25,000 live births Associated growth hormone deficiency |
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Angelmans syndrome incidence
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Chromosome 15
Incidence Unknown but estimated between 1 in 15,000 to 1 in 30,000 live births Usual diagnosis between ages 3-7 |
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What are the normal sleep patterns of different age groups including infants, toddlers, school age children and adolescents?
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Newborn: 10-19hrs, in 2-5 hr blocks over 1st year of life infnat slowly consolidates sleep at night
Toddler: 9-12 block and naps gradually decrease to 1/day by about 12 mo 3-5 y/o" 10-12 hr/night without a nap school age: 10-11 hr/night without a nap adolescents: 9-9.5 hrs /night but often only get 7-7.5, schools starting to start later |
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Parasomnias
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abnormalities of arousal, partial arousal, and transitions between stages of sleep, includes night terrors, sleepwalking, and sleep walking
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Dyssomnias
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Problems with initiating and mainitaing sleep ot to excessive sleepiness
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night terrors
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commonly occur 2 hrs after falling asleep, during deepest stage of NREM, often asc with sleep walking
Usually occur 4-12 yo, stops in 1-2 yrs |
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mgmt for night terros
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reassure it will run its course, doesn't cause child pain,
avoid stress, irregular sleep schedules or sleep deprivation, which prolongs deep sleep scheduled awakenings (waking the child 30-45 min of sleep) has been used, but little evident that it is affevtive can use low dose benzodiazepines |
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mgmt strategies for sleep walking
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usually benign, except that injuries can occur during. Ensure no obstacles. and that outside doors are locked. consider putting a bell on the childs door. avoid stress and sleep deprivation
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Contrast timing of night terrors vs. nightmares
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night terrors - occur in early NREM sleep
nightmares - occur later in RE, frightening dreams followed by awakening peak in 3-5yo. asc with stress anxiety, sleep deprivation and PTSD, can be triggered by anti HTN and antihistamine meds (benadryl) |
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List strategies for avoiding the development of sleep onset association disorders
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Infants conditioned to fall asleep with a positive stimulus like nursing, rocking or singing, if removed from bedtime approach cannot go to sleep.
MGMT: maintain regular bedtime, dont engage the child during their nighttime awakenings. dont play or talk to them. if they need something (pacifier) give it to them but dont engage with them . put child to sleep groggy, not when they are asleep. So they develop the ability to soothe their ownselves to sleep |
