Week 4 Flashcards
(98 cards)
1
Q
What is the role of PT when working with a pediatric patient with a genetic syndrome?
A
- Taking a good family history
- Clinical dysmorphisms: showing the different physical and biological characteristics seen commonly in individuals with a genetic syndrome
- Anatomical/physiologic abnormalities
- Neuromotor assessment
2
Q
What are the neuromotor abnormalities seen in children with genetic syndromes?
A
- Weakness
- Tone
- Motor control
- Discoordination
- Global development delay
- Learning and behavior problems
- Language delay
- Autistic like delays
3
Q
According to published guidelines, what should be done with any child with global developmental delay?
A
They may be referred for genetic testings
4
Q
What are the typical clinical dysmorphisms of a person with down syndrome?
A
- Smaller mouth
- Shorter stature/limb
- Wide set eyes
- Flat bridge of the nose
- Epicanthal folds can be seen
- Low set ears
5
Q
What are some clinical dysmorphisms seen in ALL genetic syndromes?
A
• Structural brain anomalies • Cranial anomalies • Abnormal pattern of scalp/facial hair: widow's peak/posterior parietal hair rule • Abnormal facial features • Eye/orbit abnormalities • Nasal abnormalities • Maxillary/mandibular abnormalities: cleft palette or high palette • Mouth and oral region: small mouth and relatively large tongue • External ears • Neck: short or webbed appearance • Skeletal abnormalities: scoliosis • Limb/joint abnormalities: short limbs • Hematology/oncology: anemia • Growth abnormalities: obesity
6
Q
What is the general overview of a normal genetic makeup?
A
- 23 pair of chromosomes
- 22 pair are autosomes, 1 pair sex chromosomes (X,Y)
- Chromosomes are composed of DNA
- A gene is a length of DNA that codes for a specific protein
- There are approximately 30,000 human genes
7
Q
What is a mutation?
A
An alteration in the DNA sequence, which may lead to a genetic disorder
8
Q
What is a single point mutation?
A
When on base pair is substituted or replaced by another.
9
Q
What type of disease is mostly seen as a single point mutation?
A
Cystic fibrosis
10
Q
What is a gain of function mutation?
A
A gene over-expression
11
Q
What is a loss of function mutation?
A
A reduced gene expression
12
Q
What is a somatic mosaicism mutation?
A
When a mutation occurs after conception and only some of the body cells are affected, resulting in a mild phenotypic expression
13
Q
What is a germline mosaicism mutation?
A
When the germline contains the mutation, but somatic cells do not. This means that the individual does not express the disease or disorder, but can transmit the mutation to an offspring
14
Q
What are some characteristics of chromosomal disorders?
A
• Occur in 1/160 live births
• Leading cause of pregnancy loss
• Account for at least 50% of 1st trimester
miscarriages and 20% of 2nd trimester
miscarriages
• Can be a deletion, duplications, translocations disorder
15
Q
What is a trisomy 21- down syndrome?
A
A genetic mutation where gene number 21 has 3 chromosomes instead of 2
16
Q
What can the extra chromosome in down syndrome be attributed to?
A
To the mother and advanced maternal age
17
Q
What is the mean maternal age for children with down syndrome?
A
32
18
Q
What are some impairments that are commonly seen in down syndrome?
A
- Diastasis recti: separation of the rectus abdominis
- Joint hyper mobility: lax and loose joints
- Atlantoaxial instability
- Mild microcephaly
- Intellectual disability
- Hypotonia
- Developmental delay
19
Q
At what age does a child with down syndrome roll from stomach to back?
A
6 months
20
Q
At what age does a child with down syndrome roll from back to stomach?
A
7 months
21
Q
At what age does a child with down syndrome sit alone?
A
11 months
22
Q
At what age does a child with down syndrome creep in quadruped?
A
14 months
23
Q
At what age does a child with down syndrome stand alone for 10 secs?
A
21 months
24
Q
At what age does a child with down syndrome walk for 15 feet alone?
A
26 months
25
At what age does a child with down syndrome walk upstairs?
39 months
26
At what age does a child with down syndrome walk downstairs?
40 months
27
At what age does a child with down syndrome jump?
47 months
28
What is edwards syndrome characterized by?
- High tone
- Fisted hand
- Fisted posture, where the 2nd and 3rd fingers tend to cross
29
What are the characteristics of edwards syndrome?
* 1/6000 births
* >90% result in miscarriage or stillbirth
* >100 associated malformations
* 90% of children born alive with Trisomy 18 die within 1 year, median age of survival is 2 weeks
* Initially hypotonic, hypertonicity develops
30
Due to the short lifespan, what are somethings to focus on in children with edwards syndrome?
- Promote good sensory motor experiences
- Good child- parent interaction
- Keep the baby as happy and comfortable as possible
31
What are some common chromosomal deletions?
* Cri-du-chat
| * 18p-syndrome
32
What are some common chromosomal microdeletions?
* Prader-Willi syndrome
* Angelman syndrome
* Williams syndrome
33
What are some commonly seen sex linked disorders?
* Duchenne muscular dystrophy
* Hemophilia A
* Lesch-Nyhan syndrome
* Fragile X syndrome
* Rett syndrome
34
What is developmental
| coordination disorder?
Motor coordination markedly below expected levels for the child's chronological age and
intelligence, which significantly interferes with academic achievement or activities of daily living
35
In what population is developmental coordination disorder common?
In pre-term population
36
How is developmental coordination disorder diagnosed?
When we see:
• motor impairment and/or motor skill delay significantly impacts a child's ability to perform age-appropriate complex motor activities
• adequate opportunities for experience and practice have been provided
• no other explanation can be offered for the motor impairment
37
What is the cause of developmental coordination disorder?
• No specific pathologic process or single neuroanatomic site has been associated with
DCD
• Theories include cerebellar involvement, impaired feed forward models, mirror neurons
38
What are some disorders that are commonly associated with developmental coordination disorder?
* Intellectual disability
* ADHD
* Learning disability
* Speech/articulation difficulties
39
What is the prognosis of developmental coordination disorder?
• Without intervention, children do not "grow out of" DCD
• Children with DCD engage in less vigorous play, spend more time alone on the playground,
and spend less time in team play
• Children with DCD are at risk for developing serious negative physical, social, emotional,
behavioral, and mental health consequences
40
What are the impairments seen in children with developmental coordination disorder?
* Sensory/perceptual deficits
* Motor deficits
* Motor control deficits
* Motor learning deficits
* Physical
* Social/emotional/behavioral
41
What are the sensory/perceptual deficits seen in children with developmental coordination disorder?
- Manage visual feedback differently and processed more slowly
- Deficiency in kinesthetic processing
- Poor proprioceptive function
- Heavy reliance on visual feedback
42
What are the motor deficits seen in children with developmental coordination disorder?
- Awkward movements
- Slow movements with a jerky or rigid quality
- Poor body awareness
- Poor balance
43
What are the motor control deficits seen in children with developmental coordination disorder?
- Inappropriate and ineffective muscular activation and sequencing
- Less effective method of muscular organization
44
What are the motor learning deficits seen in children with developmental coordination disorder?
- Limited movement repertoire
- Lack adaptability and flexibility in their movements
- Variability and inconsistency in motor performance
- Inability to correct movement patterns
45
What are the secondary physical impairments seen in children with developmental coordination disorder?
- Lack of energy
- Fatigue
- Decreased strength
46
What are the Social/emotional/behavioral impairments seen in children with developmental coordination disorder?
- Quiet
- Withdrawn
- Avoidance behavior
- Acting out
- Low frustration tolerance
- Decreased motivation and poor self esteem
47
What are some of the activity limitations seen in children with developmental coordination disorder?
* Slow, clumsy gait
* Difficulty with self-care
* Difficulty with classroom fine motor skills (handwriting)
* Delayed and poor quality gross motor skills
* Delayed oral-motor skills
48
What are some of the participation restrictions seen in children with developmental coordination disorder?
* Reduced interest in physical activities leads to withdrawal and avoidance of sports activities
* Limited social and physical participation
* Slow to move around school/playground
49
What are some personal factors that children with developmental coordination disorder live with?
* Perceive self to be less competent
* Low self-worth
* Greater anxiety
* Self-imposed isolation
50
What are the key points in the examination of a child with developmental coordination disorder?
* Observation
* Parent report (DCDQ)
* Teacher checklists (MABC-C)
* Child report (CSAPPA)
* Standardized gross motor testing
51
What does the bottom up approach intervention of developmental coordination disorder focus on?
* Perceptual-motor training
* Sensory integration
* Neurodevelopmental theory (NDT)
52
What does the "Top down"approach intervention of developmental coordination disorder focus on?
* Task-specific interventions
* Cognitive approaches
**this is preferred**
53
Who are the important people to educate as a form of intervention for a child with developmental coordination disorder?
* Child
* Family
* School personnel
* Community
* Other disciplines
54
What is the etiology of Arthrogryposis Multiplex Congenita (AMC)?
* Diagnosed in 1/3000-5000 live births
* Non-progressive
* Neuromuscluar Syndrome
* Congenital
* Severe joint contractures, muscle weakness, fibrosis at birth
55
What are the characteristics of Arthrogryposis Multiplex Congenita (AMC)?
* Associated with neurogenic and myopathic disorders
| * Many have shown degeneration of anterior horn cell
56
What does Arthrogryposis Multiplex Congenita (AMC) lead to?
Leads to muscle weakness and periarticular soft tissue fibrosis, causing decreased fetal movement
57
What is the cause of Arthrogryposis Multiplex Congenita (AMC)?
• Cause unknown
• Theories include: hyperthermia, virus, vascular
compromise, uterine fibroid tumors
58
In what joints are the joint contractures seen in Arthrogryposis Multiplex Congenita (AMC) most prevalent?
* Foot
* Hip
* Wrist
59
In what joints are the joint contractures seen in Arthrogryposis Multiplex Congenita (AMC) less prevalent, but still present?
* Knee
* Elbow
* Shoulder
60
What is one of the common physical presentations of infants born with Arthrogryposis Multiplex Congenita (AMC)?
* Hip flexion
* Knee extension
* Clubfeet
* Shoulder Int Rotation
* Elbow flexion
* Wrist flexion
61
What is another one of the common physical presentations of infants born with Arthrogryposis Multiplex Congenita (AMC)?
* Hip flexion and abduction with external rotation
* Knee flexion
* Clubfeet
* Shoulder Int Rotation
* Elbow extension and pronation
* Wrist flexion
62
What are the associated characteristics/conditions of Arthrogryposis Multiplex Congenita (AMC)?
* Scoliosis
* Hemangiomas
* Congenital heart disease
* Respiratory problems
* Abdominal hernias
* Intelligence and speech are generally normal
63
What are the early orthopedic intervention as a medical management method for Arthrogryposis Multiplex Congenita (AMC)?
* Splints
* ROM
* Positioning
* Management of dislocated hips
* Minimally invasive clubfoot surgery (Ponseti method)
* Serial Casting for contracted joints
64
What are the orthopedic management methods used for the management of Arthrogryposis Multiplex Congenita (AMC) through childhood, especially when ROM, stretching, etc does not fully work anymore?
* Muscle and capsular releases
* Osteotomies
* Serial Casting
* Braces
* Splints
65
What is the role of physical therapy in the management of Arthrogryposis Multiplex Congenita (AMC)?
* Begins as soon as possible after birth
* Baseline ROM and strength assessment
* Splints/braces
* Positioning
* Family education
* Promote functional developmental and mobility skills
* Mobility aids and devices
* Individual and creative treatment plans
66
What are the goals of the management of a child with Arthrogryposis Multiplex Congenita (AMC)?
* Ability rather than disability
* Assist child through problem solving skills
* Balance stability (bracing) with mobility, starts more proximal, decrease over time
* Assess environmental structural barriers
* Promote independence in mobility, ADLs, self care
* Energy conservation
* Promote social relationships
67
What are the types of outcome measures used for children with Arthrogryposis Multiplex Congenita (AMC)?
* Norm referenced vs criterion referenced options depending on desired outcomes
* Track change over time for the individual: using measures like Gait speed, 6 minute walk test, Timed up and go
68
Who are the members included in the care team for a child with Arthrogryposis Multiplex Congenita (AMC)?
* Child
* Family
* Medical Team
* Therapy Team
* Teachers
* Friends
* Companion Animals
69
What are the common characteristics of juvenile idiopathic arthritis?
* Joint swelling and pain
* Morning stiffness
* Muscle atrophy and weakness
* Iridocyclitis (inflammation of the eye)
* Systemic manifestations
70
What is the type of juvenile idiopathic arthritis typically defined by?
Defined by clinical presentation in first 6 months
71
What are some common types of juvenile idiopathic arthritis?
* Systemic Arthritis
* Oligoarthritis
* Polyarthritis Rh+
* Polyarthritis Rh-
* Enthesitis related arthritis
* Psoriatic arthritis
* Undifferentiated arthritis
72
What is the prevalence of oligoarticular juvenile idiopathic arthritis?
27-56% of children with JIA
73
What are the typical joints involved in oligoarticular juvenile idiopathic arthritis?
Inflammation in 4 or fewer joints
| • Knees, ankles, elbows
74
What is the prevalence of polyarticular juvenile idiopathic arthritis?
2-28% of children with JIA
75
What does polyarticular juvenile idiopathic arthritis involve?
Inflammation of 5 or more joints
• Symmetrical
• Large and small joints
• C-spine and TMJ
76
What may be present in a case of polyarticular juvenile idiopathic arthritis?
Rheumatoid nodules may be present
77
What is the prevalence of systemic juvenile idiopathic arthritis?
4-17% of cases
78
What does the initial onset of a systemic juvenile idiopathic arthritis typically present with?
* Intermittent fever spikes for 2 weeks
| * Rash
79
What is the pathogenesis of juvenile idiopathic arthritis?
While poorly understood, it is an autoimmune inflammatory disorder activated by an
external trigger, in a genetically predisposed host
• Suggestion of a cell mediated pathogenesis
80
What are the outward signs of joint inflammation?
* Swelling
* Warmth
* End-range stress pain
* Stiffness, especially in the morning
* Loss of full ROM
81
What is happening inside a joint during joint inflammation?
* Intra-articular effusion
* Synovial hypertrophy (pannus) - weakens the capsule over time
* Erosions in articular cartilage/subchondral bone, which is nonreversible
* Soft tissue edema
* Periarticular tenosynovitis
* Bony overgrowth due to inc blood supply
* Protective muscle spasm
82
What are the functional presentations that we see in patients with juvenile idiopathic arthritis?
* Leg length discrepancy
* Asymmetries
* Mal-alignment of joints
* Joint subluxations
* Muscle atrophy
* Postural Abnormalities
* Lower peak oxygen uptake (VO2peak)
83
What are the pharmacologic management goals of juvenile idiopathic arthritis?
* Control inflammation
* Induce remission
* Prevent joint erosions
* Manage extra-articular manifestations
84
What are the pharmacological management options for the treatment of juvenile idiopathic arthritis?
• NSAIDs – anti-inflammatory (1st line of defense)
• Methotrexate – disease modifying drug and help with moving to remission
• Biologic medications that target the tumor necrosis
factor (TNF) – cytokine responsible for effects of
inflammation
• Systemic glucocorticoids (don’t alter disease course), but help to manage chronic inflammayion
85
What are the components of the PT evaluation and assessment for a child with juvenile idiopathic arthritis?
* PROM/AROM
* Strength – consider pain
* Girth
* Pain
* Functional mobility skills
* Aerobic capacity
* Functional Outcome Measures
86
What are the interventions considerations for the treatment of juvenile idiopathic arthritis?
• Joint Protection
• Patient and Family education
• Disease management education in conjunction with
medical and pharmacological recommendations
• IEP for school (may be an “invisible disease”)
• Functional skills and ADLs
• Orthotics, braces, mobility aids
• Aerobic conditioning/energy conservation
87
What is osteogenesis imperfecta?
An inherited disorder of connective tissue, with great variability in its manifestations
88
What is the prevalence of osteogenesis imperfecta?
1 in 10,000 – 20,000 live births
89
What are the common impairments found in children with osteogenesis imperfecta?
* Diffuse osteoporosis resulting in recurrent fractures
* Weak muscles
* Lax joints
* Blue sclerae: the whites of their eyes have a blueish tint. Not present in all types
* Dentinogenesis imperfecta: impairments in the formation of the teeth
* Deafness
* Excessive sweating
90
How many different types of osteogenesis imperfecta has been identified by gene mapping?
At least 11
91
What are the characteristics of osteogenesis imperfecta types 1-4?
* Mostly autosomal dominant
* Defect in type I collagen structure
* Mild to severe bone fragility
92
What are the characteristics of osteogenesis imperfecta types 5-11?
* Mostly autosomal recessive
* No type I collagen defect, but inability to translate collagen to bone
* Moderate to severe bone fragility
93
What are the things we need to do before evaluating patients with osteogenesis imperfecta types 1-11
* Communicate with medical team
* Be aware of type
* Consider how it affects prognosis
* Consider how it affects treatment and intervention
* Patient and family education very important
94
What are the aspects of the medical management of osteogenesis imperfecta?
* Genetic Counseling
* Biophosphonate class of drugs in the late 1990s, which help to reduce normal bone turnover – inhibit osteoclasts
* Ensure adequate Vitamin D levels, so that the uptake of calcium is at its most efficient levels
* Casting vs intramedullary rod fixation for fractures
* Immobilization vs mobility and risks of osteoporosis
95
What are the effects of biophosphonate class of drugs in the treatment of osteogenesis imperfecta?
The inhibition of osteoclast helps improve bone density and allows for more strength in the bones and hopefully translates to better clinical outcomes
96
What is the decision of whether to cast or use intramedullary rod fixation for fractures in patients with osteogenesis imperfecta based on?
Childs age, type of fracture, the bone that is fractured, and the location of the fracture
97
What are the PT considerations for the management of a child with osteogenesis imperfecta?
* Family education on handling, positioning, dressing, bathing, diapering, and carrying in order to prevent fractures
* Avoid traction (pull to sit) or dangling limbs
* Consider modifications to car seat, bathing tub with padding, etc
* Consider environment
* Weight bearing with caution
* Balance muscle strengthening with protection
* Focus on functional skills and ADLs
* Promote social interaction
* Mobility aids as needed
* Energy conservation
* Adaptive PE
98
How is down syndrome diagnosed?
Through pre-natal testing and is confirmed by the presence of the 3rd chromosome 21
