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Medical Conditions 2 > Genetic and Development disorders > Flashcards

Genetic and Development disorders Flashcards

1
Q

Genetic Defect types

A
  • X-linked (dominant vs recessive)
  • Y-linked
  • Autosomal dominant
  • Autosomal recessive
  • Codominant: 2 differnet allels of a gene are expressed
  • mitochondrial inhertied disease
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2
Q

Diagnosis of a genetic defect

A
  • Chromosomal testing/DNA analysis
  • Blood tests
  • clinical exam
  • EMG, Muscle biopsy
  • often detected at birth
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3
Q

Causes of genetic defects

A
  • mutations
  • breakage of chromosomes
  • transplant or chromosomes
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4
Q

Down syndrome: Etiology

A
  • trisomy 21
  • translocation of chromosome 15, 21, or 22
  • mosaicism: fauly cell division occurs after fertilization (group of “normal” cells and group of mutated cells)
  • can be related to mothers age
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5
Q

Down syndrome Diagnosis

A
  • Triple screen: alpha fetoprotein, human chorionic gonadotropin, uncondjugated estrogen indicators to do more tests
  • amniocentesis
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6
Q

Down syndrome

prognosis

A
  • improved
  • life expectancy is now 60+
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7
Q

Down syndrome

Clinical manifestations

A
  • congenital heart disease (tetralogy of fallot)
  • endocrine diseases
  • Atlanto-axial instability
  • alzheimers disease
  • primitive reflexes persist
  • sensory motor impairments
  • affects muscule tone, increased joint laxity
  • slower intiating movements
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8
Q

Down syndrome

Tetralogy of fallot

A
  1. hole between ventricles that doesnt close
  2. transposed Aorta over the hole
  3. pulmonary valve stenosis
  4. right ventricular hypertrophy
    will have cynosis, decreased endurance
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9
Q

Down syndrome: AA joint laxity

A
  • When you flex, extend, laterally rotate, and side bend there will be too much motion
  • vertebral artery is in the are and the spinal nerves as well
  • monitored to detect this and then will need to have is fused
  • hypermobilty: careful with doing activites that will encourage a lot of movement at this joint
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10
Q

Scoliosis

What causes this/types

A
  • iodapthic
  • osteopathic: owning to spinal disease or bony abnormality
  • myopathic: owing to muscule weakness
  • neuropathic: owing to CNS disorders
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11
Q

Scoliosis

Age of onset classifcations

A
  • infantile 0-3 years
  • juvenile 3-10
  • adolescent 10-bone maturity (18 -20)
  • adult: after skeletal maturation
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12
Q

Measuring Scoliosis

A
  • the top vertebra used in the measurement is identified as the uppermost vertebra whose upper surface tiltis toward the curvature concave side (superiro surface of the vertebra that is most tilted)
  • the bottom vertebra is the lowest vertebra whose inferio surface tilts
  • A line is drawn parallel to each of those vertbrae
  • the angle formed by the two perpendicular lines drawn to each of these lines creates the angle curvature
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13
Q

Curves of scoliosis

medical conscern

A
  • less than 25º= X-rays every so often to monitor
  • 25-45º recommended to brace
  • after 45º they ecommend surgery but depends on the activity level and the symptoms of the individual
  • over 50º – beathing issues
  • Risser measures skeletal maturity
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14
Q

Kyphoscoliosis

A
  • Scheuermann disease (juvenile kyphosis, vertrbal epiphysitis)
  • structural deformity classically characterzed by anterior wedging of 5ºor more of the three adjacent thoracic bodies
  • affects adolescents 12-16 years old
  • most common cause of structural kyphosis in adolescence
  • likely autosomal dominant but etiological factors and pathogenesis of this excessive kyphosis are unknown
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15
Q

Normal neural tube development

A
  • about 20 days after conception: neural groove develops in the dorsal ectodem
  • the neural groove deepens as the two edges fuse to form the neural tube
  • completely closed by about day 23 except for an opening at each en d
  • the upper end closes on day 25 and continues to fold and develop, forming the brain
  • the bottom end closes on day 27 and forms the spinal cord
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16
Q

Neural tube defects

A
  • Spina bifida occulta
  • meningocele
  • myelomeningocele
  • ancencephaly
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17
Q

Nerual tube defects

Spina bifida occulta

A
  • incomplete fusion of the posterior vertebral arch
  • all the neual contents are in there - more of a bony deformit
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18
Q

Neural Tube defects

Meningocele

A
  • external protrusion of the meninges
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19
Q

neural tube defects

myelomeningocele

A

protrusion of the meninges and spinal cord

  • similar to spinal cord injury
  • presentation depending on the level of involvement
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20
Q

Neural tube defects

Anencephaly

A
  • failure of upper most part of the Neural tube to close
  • bain does not develop and the child is not verry functional
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21
Q

Spina bifida- often occurs with what?

A
  • often have hydrocephalus: disruption of the CSF
  • will have shunts that run ventroperritoneal
  • VP shunt: avoid Crimping it or restrict the fluid moving through it
  • squinting due to pressure or holding ears acting out is a sign of back up of fluid
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22
Q

Spina bifida occulta

clinical manifestations

A
  • No neurologic dysfunction
  • occasionally bowel and bladder distrubances
  • foot weakness occur
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23
Q

Meningocele

clinical manifestations

A
  • Rarely cause neurologic deficits
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24
Q

Myelomeningocele

clinical manifestations

A
  • permanent neurologic impairments depending on the level of involvement
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25
Q

Hydrocephalus with SB clinical manifestations

A
  • Type 1 or tpe 2 Arnold-Chiari malformation
  • fetal repair has lowered rate of Chiari malformation and hydrocephalus
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26
Q

Hydrocephalus: shunt malfunction

A
  • Infants: irritability, crying, head growth, buldging fontanelle, sunset sign
  • Toddlers: squint, nystagmus, headcache
  • School age: personality, handwriting, memory loss
27
Q

Chianti Malformations

A
  • Cerebellum is protruding down through foramen magnum
  • type 2 is typically present with SB
  • type 1 is worse then type 2
28
Q

Tethered cord

A
  • the spinal cord is sticking to the membrane of the bone
  • unable to have conduction going through the involved neves
29
Q

Neural tube defects:

Diagnosis

A
  • Prenatal US and serum AFP testing
  • Amniocentesis
  • fetal MRI (more accurate)
30
Q

Neural tube defects:

Treatment

A
  • prenatal: can do surgery in utero which has decreased the significance of impairments
  • Postnatal:
  • PT: typically they want to move but do not have an idea of safety work on managing the environment
  • Medical: use a posterior RW but as they get older there will need to be more efficient means of mobilization through community
31
Q

Neural tube defects:

Prognosis

A
  • Doesnt cause death but can cause secondary complications that can result in death
32
Q

Dysplasia of the hip

A
  • Developmental dysplasia of the hip
  • perviously known as congential hip dysplasia or dislocation
  • common hip disorderr affecting infants and children
33
Q

Dysplasia of the hip: clinical evaluation

A
  • ortolani or barlow test 99% specificity in the 1st month
  • Galeazzi sign in older infants: one knee is higherr in a hook lying position
34
Q

Dysplasia of the hip

Imaging shows

A
  • hip joint is not formed correctly and the head of the femur is not sitting in the acetabulum
  • shallow acetabulum
35
Q

Dysplasia of the hip

Treatment

A
  • hip harness
  • pavlik harness
  • 100-110º of flexion and 40-60º of abduction
36
Q

Dysplasia of the hip

Prognosis

A
  • Directly related to the childs age at initiation of treatment
  • early corrrection – sucess rates of 95%
  • later correction: increased rates of AVN and redislocation
37
Q

Dysplasia of the hip

Treatment complications

A
  • AVN
  • premature physeal arrest which manifests during adolescent growth spurt
38
Q

Muscular Dystrophy

A
  • largest and most common group of inheriited progressive neuromuscular disorders of childhood
  • signs can occur at any point in the life span
  • genetic origin
  • progressive symmetric muscule wasting and with increasing deformity and disability
39
Q

Muscular Dystrophy

Types

A
  • Duchenne/becker are the most common
  • Fascioscapulohumeral: affects muslces
  • Scapuloperoneal
  • Limb-girdle
40
Q

Muscular Dystrophy

Duchenne and Becker MD

A
  • Affected gene code for dystrophin (protein that links the sarcolemma with action)
  • progressive disorder
41
Q

Muscular Dystrophy

Duchenne: clinical signs

A
  • Gower’s sign: walking up their legs to get up from floor
  • frequent falls
  • difficulty with stairs
  • waddling gait
  • increased lordosis/scoliosis
  • proximal weakness – scapular winging
  • respiratory and GI dysfunction
42
Q

Muscular Dystrophy

Becker: clincal signs

A
  • similar to DMD but slower progression
  • longer life expectancy
43
Q

Muscular Dystrophy

PT

A
  • maintain level of activity
  • energy conservation
44
Q

Muscular Dystrophy

Progonsis

A
  • W/C boound by 10-12 years
  • respiratory failure in 20s
  • median age of survival 23.7 years
45
Q

Spinal muscle atrophy

A
  • 2nd most common fatal autosomal recessive disorder
  • genetic mutation: deletion of SMN1 on chromosome 5
  • Prevents production of SMN protein
  • Alpha neurons are affected
46
Q

Spinal muscle atrophy

Pathogenesis and types

A
  • loss of alpha motor neurons in spinal cord
  • progessive weakness and skeletal muscle wasting
  • feeding and nutrition, respiratory and orthopedic including scoliosis
  • type 1 (most severe) to type 4 (least severe)
  • type 1 rarely make it past early few months
47
Q

Spinal muscle atrophy

Treatment

A
  • supportive
  • medication: nursineren allows more on the SMN protein to be produced which results in milder presentation
48
Q

Torticollis

A
  • congenital muscular torticollis or wry neck
  • contracted state of SCM
49
Q

Torticollis

PT

A
  • Born with decreased ROM to one direction due to severe tightness in SCM
  • good prognosis if caught early
  • football stretch
  • can be caused by some psych meds
  • once they get within 5º of the opposite side and they can turn their head and look in all direcions it becomes self limiting
50
Q

Brachial plexus birth palsy

types

A
  • erb palsy affecting C5-C6 nerve roots (better prognosis)
  • Klumpke palsy affecting C8 and T1 nerve roots total plexus injury = entire arm
51
Q

Brachial plexus birth palsy

Diagnosis

A
  • x-ray to r/o clavicle fx
  • MRI
  • EMG
  • can also be extra rib that applies pressure
52
Q

Brachial plexus birth palsy

Prognosis

A
  • 53% full recovery
  • lower plexus palsies - poor recovery
53
Q

Athrogryposis multiplex congenita

A
  • Multiple deformities/contractures of joints
  • stretching mobility etc to prevent secondary conditions
54
Q

Athrogryposis multiplex congenita

3 types

A
  • contracture syndromes
  • amyoplasia
  • distal arthrogryposis (hands/feet)
55
Q

Athrogryposis multiplex congenita

Diagnosis

A
  • no prenatal test
56
Q

Athrogryposis multiplex congenita

PT

A
  • max benefits between 0-2 years
  • earlier intervention is the best
57
Q

cerebral palsy

A

non progressive lesion that occurs before 2 years old

58
Q

cerebral palsy: risk factors

A
  • prenatal: materal infections, maternal diabetes, Rh incompatibility, maternal radiation
  • Perinatal: prematurity, mechanical birth trauma, breech delivery, twins/multiple births
  • Post natal: neonatal infection, trauma, brain tumor, anoxia, CVA
59
Q

cerebral palsy

Pathophysiology

preterm infants

A
  • anything before 38 weeks
  • hemorrhage below ventricles
  • hypoxia leading to encephalopathy
  • structural malformation
60
Q

cerebral palsy

Pathophysiology: full term

A
  • hpoxic ischemic encephalopathy, hemorrhage, ischemic infarct/stroke
  • typically affects areas supplied by ACA, MCA, PCA
  • perinatal stroke = stroke in the fetus or infant before 28 das after brith
61
Q

cerebral palsy

Classification with topology

A
  • monoplegia
  • diplegia
  • hemiplegia
  • quadriplegia
  • insult in is not progressive
62
Q

cerebral palsy

Classification: type of impairments

A
  • ataxia: without coordination
  • hypotonia: low tone
  • dyskinesia: Writhing, involuntary movements
  • rigidity: muscles feel like lead pipe
  • spasticity: velocit dependant
63
Q

cerebral palsy

Clinical manifestations

A
  • microcephaly
  • hydrocephaly
  • insult is not progressive but impairments can be
  • alterations of muscles tone
  • delayed postural reactions
  • persistence of primitive reflexes
  • delayed motor development
  • abnormal motor preformance
64
Q

Result of spasticit in adductors of the hip

A
  • acetabulum doesn’t deepen and head of femur is not positioned correctly
  • hip dysplasia

Medical Conditions 2 (22 decks)

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