Exam 2 Review Flashcards
Primary care monitoring of a Down Syndrome patient includes: assessing for -1- and referring to ophthalmology if necessary; following up on -2- screens if results were abnormal or inconclusive; drawing a -3- and a thyroid panel (to assess for hypothyroidism) -4-; closely assessing -5-
- cataracts
- newborn/previous hearing
- CBC (leukemia)
- annually
- growth
Primary care monitoring of a Down Syndrome patient includes: assessing for -1- via X-ray and cardiac -2- before approving them for -3-. -1- x-rays are also recommended if -4- arise, but otherwise not routinely.
- atlantoaxial instability (instability of the first & second vertebrae)
- dysrhythmias (EKG)
- sports
- distal neural symptoms
Diagnosis is rarely made before puberty.
Key findings include microorchidism; lack of libido; minimal facial hair; and tall, eunuchoid build.
IQ can vary (normal to borderline with a small percentage showing cognitive disabilities).
Klinefelter Syndrome (XXY)
What do you give a patient having an epileptic seizure (emergent)?
Diazepam (rectal)
People with -1- have a higher rate of depression
and anxiety disorders than the general population
Depression and anxiety are often overlooked in
children with -1- because children
may not show the same symptoms as adults.
Anticipatory guidance for 1. seizure disorders/epilepsy
Some -1- can have negative effects on mood
and contribute to feelings of -2-, -3-, -4-, and -5-.
Anticipatory guidance for 1. Anti-Epilepsy Drugs (AEDs)
- depression
- anxiety
- irritability
- frustration
Counseling regarding -1- and -2- should be provided to all families whose child has been diagnosed as having a seizure disorder, and, ideally, this education should be extended to all -3-
- seizure safety
- first aid
- caregivers
Generally, it is advised to call emergency medical services for seizures that persist -1- minutes if no -2- is available or for seizures that persist for -1- minutes -3- is administered.
- longer than 5
- home rescue medication
- after rescue medication
Seizure AG: Although some -1- are required for safety reasons, -2- should be avoided because they negatively affect -3- and self-esteem.
- activity restrictions
- excessive limitations
- peer interactions
The first level of classification is the seizure -1-, which is divided into focal, -2- and unknown onset. A seizure is considered -2- in onset if it -3- networks from onset and focal if it -4- region or hemisphere.
- type
- generalized,
- engages bilateral brain
- begins in 1
-1- seizures can be further classified into motor or -2-. -3- are further subdivided into 1) whether they are associated with -4- and 2) whether they are associated with -5- or nonmotor (behavior arrest, cognitive, emotional, sensory, or autonomic features) symptoms.
- Generalized onset
- nonmotor (absence) onset
- Focal seizures
- impaired awareness
- motor (tonic, clonic, atonic, or myoclonic activity)
Focal seizures may evolve to -1- activity, and, thus, in any child with a -2- seizure, it is imperative to ask about any -3- suggestive of an aura.
- bilateral convulsive
- generalized tonic clonic
- premonitory symptoms
Most common cause of status epilepticus
lapse in medication
Inheritence pattern of:
Hemophilia, DMD, G6PD
X-linked recessive
Inheritence pattern of:
Achondroplasia, hypercholesterolemia, holoproencephaly, Huntington, Marfan, myotonic dystrophy, NF I, Osteogenesis Imperfecta, polycystic kidney disease
Autosomal dominant
Inheritence pattern of:
CF, Gaucher’s syndrome, hemochromatosis, PKU, Tay-Sachs, thalassemias, xeroderma pigmentosum
Autosomal recessive
Inheritence pattern of:
Fragile X syndrome
X-linked dominant
Inheritence pattern of:
Klinefelter, Down, and Turner syndromes
Misomy
Inheritence pattern of:
Myoclonic epilepsy with ragged-red fibers (MERRF)
Maternal (mitochondrial)
• Inheritance of single copy of mutated gene
• Passed on from only one parent, but results in genetic disorder
• Donating parent has disorder
Risk for inheriting is 50% for each child
Autosomal dominant
• Requires inheritance of two copies of mutated gene; one from each parent
• Offspring with only one copy are carriers
• Carriers may pass genes to children, but are themselves unaffected
• Risk for inheriting is 25% for each child, 50% risk for being a carrier; 25% risk of being
unaffected
Autosomal recessive
- Single abnormal gene causes disease
- If father affected and mother not, all female offspring will inherit disease
- If mother affected and father not, 50% chance that each daughter/son will inherit
X-linked dominant
- Single abnormal gene causes disease
- If father affected and mother not, all female offspring will be carriers
- If mother affected and father not, 50% chance that daughters will be carriers or sons will inherit
X-linked recessive
Causes intellectual disability, behavioral and learning challenges, and various physical characteristics
Physical features include:
Facial: Large ears, Long face. Prominent jaw
Connective tissue: flat feet, high arched palate, double jointed fingers and hyper-flexible joints
Strabismus
Low muscle tone
Macroorchidism (post-pubertal)
Fragile X Syndrome
The classic phenotype includes severe intellectual disability with prognathism, seizures, and marked delay in motor milestones, abnormal gait and posturing, poor language development, autism, and paroxysmal laughter and tongue thrusting.
Angelman Syndrome
The association of macrosomia (enlarged body size), macroglossia (enlarged tongue), and omphalocele constitutes the -1-, now known to be related to abnormal expression of imprinted genes located on chromosome 11p15.
- Beckwith-Wiedemann syndrome (BWS)
Webbed neck, triangular facies, short stature, wide-set nipples, amenorrhea, and absence of secondary sex characteristics.
Associated with coarctation of the aorta and genitourinary malformations.
IQ is usually normal but learning disabilities are common.
Mosaic individuals may manifest only short stature and amenorrhea.
Turner Syndrome (Monosomy X)
More than 80% of patients with Noonan Syndrome (NS) have an abnormality of the -1-. -3- is the most
common and is often associated with an -4-.
Isolated -4-s and -5- defects are also relatively
common.
-2- is present in ~20% of patients with NS overall but is particularly frequent with RAF1 mutations and it is variable in severity and natural history.
- cardiovascular system
- Hypertrophic Cardiomyopathy
- Pulmonary Valve Stenosis (PVS)
- Atrial Septal Defect (ASD)
- partial atrioventricular canal
Facial and musculoskeletal features most often lead to the diagnosis of -1-. The facial appearance is most characteristic in infancy (Fig 1) and early- to middle-childhood and becomes more subtle in adulthood.
Hair may be wispy in the toddler, whereas it is often curly or wooly in the older child and adolescent.
A characteristic pectus deformity of the chest with pectus carinatum superiorly and pectus excavatum inferiorly is seen in most individuals.
Disordered bleeding has been reported for 30% to 65% of individuals with -1-.
Most people with -1- have normal intelligence, but 10% to 40% require special education
Children with -1- have a higher rate of clumsiness, poor coordination, stubbornness, and irritability.
- Noonan Syndrome
Less commonly, factors IX and II have also been reported to be -2- in patients with NS and can contribute to -3-.
Both -1- and -4- have also been described in patients with NS.
- thrombocytopenia
- deficient
- bleeding risk.
- platelet dysfunction
Arthritis and fever (≥2 weeks, documented quotidian x 3+ days) Plus 1 or more: 1) Evanescent erythematous rash, 2) Generalized lymphadenopathy, 3) Hepatosplenomegaly, 4) Serositis
Systemic-onset JIA (SJIA)
Arthritis ≥5 joints during the first 6 months of disease
Polyarticular JIA (PJIA)