Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

RC Prep - Dev Peds > Neuromuscular & Neuromotor > Flashcards

Neuromuscular & Neuromotor Flashcards

(107 cards)

Start Studying
1
Q

Describe the genetic pattern and pathophysiology of DMD

A

X-linked recessive neuromuscular disorder caused by mutations in the dystrophin gene that result in absent
or insufficient functional dystrophin (a cytoskeletal protein that enables the strength, stability, and functionality of myofibres)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Prevalence of DMD?

A

15-20/100,000 live male births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the cause of mortality in DMD?

A

Respiratory or cardiovascular compromise

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Name 5 red flags for DMD diagnosis

A

Family history
Delayed walking > 16-18 months
Toe walking <5 years old
Gower’s sign positive
Elevated transaminase (LD, ALT, ALP, CK)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Name 5 motor signs & symptoms of DMD

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Name 5 NON-motor signs & symptoms of DMD

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is the genetic cause of DMD? what genetic tests should be ordered?

A

MLPA (multiplex ligation dependent probe amplification) or comparative genomic hybridization array –> deletion or duplication of DMD gene (70%)

Next generation sequencing –> point mutations, small deletions, small duplications or insertions (25-30%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

If genetic testing is negative, what is the next diagnostic test for DMD? What are the findings that would indicate a DMD diagnosis?

A

Dystrophin protein testing by immunohistochemistry of tissue cryosections or by western blot of muscle protein extract on muscle biopsy –> absent dystrophin protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

List 8 side effects of glucocorticoids

A

○ Weight gain
○ Decreased height velocity
○ Delayed puberty
○ Irritability, behavior changes
○ Osteoporosis
○ Increase fracture risk
○ Hirsutism, acne
○ Cataracts, glaucoma
○ Fluid retention/edema
○ GERD
○ Insulin resistance
○ Adrenal insufficiency and crisis
○ Sleep disturbances
○ Cushing features

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the starting dose of glucocortiocoids (each type) in DMD?

A

Deflazacort 0.9mg/kg/day
Prednisone 0.75 mg/kg/day

Deflazacort less weight gain

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is the screening guidelines for vertebral fractures in DMD?

A

Annual DEXA scan. if non-ambulatory increase to q6 months

Lateral xrays for vertebral fracture if pain or decrease in Z score by >0.5 SD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the screening guidelines for scoliosis in DMD?

A
  • Ambulatory DMD – clinical monitoring, AP xray spine if clinically identified
  • Non-ambulatory – q6-12 months
  • When first become non-ambulatory
  • 20 refer to orthopedics
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

List three neurodevelopmental disorders that are associated with DMD?

A

Increase prevalence of ADHD, ASD, and intellectual disability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Name 3 factors on which you base your decision whether or not to start steroids in a patient with DMD

A

○ Confirmed DMD diagnosis
○ Immunizations complete
○ Patient can tolerate side effects
○ (Family aware and ok with side effects)
○ (Nutritional assessment complete)
○ (not usually <2 years old, still developing basic skills)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

3 strategies to prevent & treat ankle contracture in DMD?

A

o Ankle stretches 4-6 times per week
o Use of AFOs in standing and rest for passive stretch
o Surgical release of Achilles tendon if <10 dorsiflexion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Exercise guidelines for DMD?

A

Regular submaximal aerobic activity or exercise, especially cycling or swimming
AVOID - eccentric, high-resistance exercise, overexertion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is the cardiac monitoring in DMD?

A

o Echo (<6-7y) or cardiac MRI (>6-7y) and ECG at diagnosis
o Annual cardiac function testing (history & PE) and ECG
o ACEi or ARB onset prior to 10 years old (even if healthy), BB as first line for cardiomyopathy/ventricuilar dysfunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

In DMD, what is the anticipated risk of developing a cognitive impairment

A

o 20-30% of cognitive difference (ID or specific learning disorder)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Indications for increase frequency of respiratory evaluation in DMD?

A

o Ambulatory to non-ambulatory
o Clinical history of sleep disordered breathing (fatigue, dyspnea, morning headaches, frequent nocturnal awakenings, difficulty concentrating, frequent nightmares)
o Deteriorating FVC
o If on assisted ventilation pCO2 >45 or SPO2 <95%  need for daytime ventilation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Name 2 causes of false negative and 2 causes of false positive results of DMD testing on newborn screen

A
  • False negative - storage at higher than room temperature and humidity, storage > 7 years, low birth weight or prematurity
  • False positives - other muscular dystrophies (Becker’s. congenital muscular dystrophies, limb-girdle muscular dystrophies); CK-MM may also be elevated in unaffected newborns due to muscle trauma during birth (reduce over time rather than increase)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Name 2 DSM-5 Diagnoses seen in people with myotonic dystrophy

A

ADHD
Intellectual disability (50%, FSIQ 50-70)
Anxiety

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Name 3 specific cognitive-processing deficits in myotonic dystrophy

A

o Memory impairment
o Executive dysfunction
o Visuospatial processing differences

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is the test for myotonic dystrophy

A

PCR for tandem repeat expansion in DMPK gene, chromosome 19q13.3.3 >50 CTG repeat

Other:
EMG – characteristic myotonic discharges with bursts of repetitive potentials

Muscle Biopsy – grossly abnormal muscle fibre size, fibrosis

CK – normal to mildly elevated

Low level of IgG
Liver function abnormalities – up to 50%

MRI – cerebellar atrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Name 3 features that differentiate Becker’s muscluar dystrophy from DMD

A

Older age of onset 5+ (BMD) vs 2-3 years old DMD

Ambulatory longer

CK 5x ULN vs 10-20x ULN in DMD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Genetic testing for Becker's muscular dystrophy
- Multiplex ligation-dependent probe amplication (MLPA) - Comparative genomic hybridization array 70% 25-30% will require sequencing for point mutations if still no diagnosis then muscle biopsy - reduced dystrophin protein (vs absent in DMD)
26
Name the genetic cause of Friedreich Ataxia
Mutation in FXN gene with >66 GAA repeats, chromosome 9 Disrupts frataxin protein production
27
Describe the genetic problem in SMA
Homozygous deletion of SMN1 exon on chromosome 5 (autosomal recessive) SMN2 number of copies associated with clinic phenotype
28
4 clinical features of SMA
Fasciculations Proximal muscle weakness Progressive Decreased or absent reflexes Sensation is preserved
29
Risk in congenital myopathy during anesthesia
Malignant hyperthermia
30
Biopsy finding in nemaline rod myopathy
Rod-like structures in predominance and type 1 fibers
31
4 interventions to support adequate nutrition and safe feeding in child with muscular dystrophy
SLP assessment Thickened feeds Nutritional supplementations Tube feeds
32
Name of 3 FDA approved medications to treat SMA
Zulgensma Nusinersen/Spinraza Risdiplam
33
What percentage of BMD is expected to be identified on MLPA genetic testing for deletion/duplication
85%
34
Benefits of steroids in DMD?
Prolonged ambulation Preserved upper limb function preserved respiratory function Avoid scoliosis surgery
35
If side effects or reduced tolerability of steroids in DMD what are the next steps?
Reduce steroids by 25-30% and reassess in 1 month
36
How often do you screen female carriers with DMD for cardiomyopathy
every 3-5 years with ECG and echo starting in early adulthood for cardiomyopathy
37
What is the neurodevelopmental profile for DMD?
38
2 predictors of poor outcome/mortality in CP
gmfcs > III (ie IV or V) feeding difficulties (aspiration risk)
39
GMFCS is based on what level of child's abilities
typical performance
40
name 3 tests to assess function in CP
Gross motor functional measure (GMFM) 6 min walk test Canadian Occupational Perfomance Measure (COPM)
41
name 5 comorbidities of DCD and the two most common (first)
1) ADHD 2) speech and language impairment 3) Anxiety 4) ASD 5) SLD
42
4 medication categories that treat tics and 1 example of each
-alpha 2 agonist - clonidine -atypical antipsychotic - risperidone (or typical haloperidol) -anti-epilecptic - topiramate -SSRI - fluoxetine
43
Name 2 reasons why BMI is not a good indicator of nutritional status in CP and 2 alternatives
-differences in body composition -measurement error/difficulty -tricep skinfold measurements with appropriate modified equations (for CP) -mid arm circumference -technology based body composition tools
44
4 reasons for GTube in CP?
history of aspiration prolonged feeding time malnutrition/malabsorption significant weight loss refractory GERD Family/social factors
45
Child iwth CP, vp shunt, on baclofen + carbomazipine, abdo pain + increased spasticity - 5x labs - 2x Ix
- CBC - CRP - Renal function, lytes - blood culture - carbomazipine level Abdominal ultrasound VP shunt series (CT or MRI fast)
46
Differences between tics and stereotypies
Tics - discrete, sudden, non-rhythmic often involving the head and neck and may have premonitory urge Stereotypies - rhythmic, purposeless, patterned, episodic, and repetitive - often onset younger age
47
Differences between GMFCS I and II
May require support for transfers and on stairs May require walker for long distances/endurance -DIfficulty jumping or running
48
4 specific diagnosis that may benefit form power mobility in preschool
1) SMA I or II 2) CP >/= III 3) Spina bifida 4) congenital myopathy
49
12 years old boy with toe-walking, ankle flexion contractures, ck 6 times upper limit of normal, sore muscles, quadriceps muscle weakness bilaterally. Most likely diagnosis? Initial test to confirm this diagnosis?
Becker's muscular dystrophy Dystrophin gene anlaysis (MLPA)
50
5 symptoms of malnutrition on history or physical other than growth parameters
2' amenorrhea history of fractures Muscle waisting Lanugo Pallor Ulcers Angular chelitis
51
4 components of CP diagnosis definition
Insult to the developing brain Non-progressive Leading to impairments in movement, posture and activity limitation Accompanied by effects on cognition, perception, sensation, communication, and behavior
52
Side effects of levodopa (4)
dizziness headaches dyskinesia orthostatic hypotension rhabdomyolysis hallucinations
53
4 features of Idiopathic toe walking
Onset at the time of walking (12-18 months) Symmetric No associated hypertonia, hyperreflexia or clonus Normal sensation and strength Non progressive
54
Name the components of the ICF fraemwork of disability
55
4 benefits of orthotics
- prevention of contracture or foot deformity - gait stability - gait endurance and efficiency (appropriate heel contact) - Passive stretch and prevention of overstretch
56
Name 3 interventions for kids with cortical visual impairment
bright contrasting colours reduced visual stimulation objects with sound or movement as well
57
name 5 medical contributors other than sleep hygiene for child with poor sleep
Pain GI symptoms Seizures Sleep associations Parasomnias Snoring/OSA features
58
13yo girl with hempiplegic CP. Have assessed for spasticity and dystonia. What 5 other aspects of body function in the ICF would you look for on exam that would explain her difficulties with bimanual function?
Contractures Fractures Pain Seizures Vision impairment Voluntary muscle control grip strength active versus passive range of motion
59
Describe the two maneuvers completed on the HAT to assess for spasticity.
. Velocity dependent resistance to stretch . Presence of a spastic catch
60
5 key components that distinguish spasticity from dystonia and what you would find for spasticity or dystonia.
61
Parents are adopting a child who was shaken when she was an 8-week-old. Her presenting GCS was 4. She spent two weeks ventilated in the ICU. She is now 1-year-old. She crawls and pulls to stand. She has no words. Her motor exam and tone are normal. She is happy. She has no hearing or visual concerns. What two things would you counsel her potential adoptive parents about?
- Lowered verbal IQ, performance IQ, and full-scale IQ - Behaviour problems (e.g., hyperactivity, conduct problems, poor self-control, and internalizing difficulties)
62
what are the four indications for starting dystonia management according to the AACPDM pathway?
- Dystonia causing pain - Dystonia affecting sleep - Dystonia interfering with positioning - Dystonia impeding function - Status dystonicus (or “periodic status dystonicus”)
63
Three reasons you would refer to an orthopedic surgeon based on the AACPDM pathway for hip surveillance?
- Positive response to question regarding pain - Pain on physical examination - Migration percentage > 30% on AP pelvis - Hip abduction passive range of motion < 30 degrees
64
3.5yo boy, GMFCS II. Describe his abilities in sitting, movement in and out of sitting, standing, crawling and walking.
Sitting with hand support get in and out of sitting without assistance prefers to cruise when walking stands with support 4-point crawl
65
Name 3 patient characteristics known to be associated with life expectancy in cerebral palsy
more severe limitations in motor abilities (i.e. higher GMFCS) more severe limitation in feeding abilities more severe cognitive impairment more severe visual disabilities seizures
66
5 requirements of normal gait
· Stability in stance · Clearance of foot in swing · Pre positioning of foot · Energy conservation adequate step length
67
4 aspects about the unique anatomy of young children that make them more susceptible to brain injury.
· Relative macrocephaly (large heads to small neck ratio) · Weak neck muscles · Elastic blood vessels Incomplete myelination
68
4 physical exam maneuvers to assess hypotonia in the child and most common cause of newborn hypotonia
pull to sit vertical suspension horizontal suspension scarf sign (upper limb adduction across the trunk) Think -HINE
69
What to advise re genetic testing in CP?
1.) Genetic studies are not routine in CP as our understanding of the role of genetics in CP is still limited. It could be considered for reasons of closure, family planning, but very rarely informs treatment options or atypical features of CP 2.) I would recommend genetic testing specifically if there was a family history of CP, recurrent miscarriages, neurodegenerative disease, or an atypical presentation that made me suspicious of an alternative diagnosis (ex. normal MRI, metabolic history, migration abnormalities on MRI)
70
What is the single best predictor of developmental outcome in a child with myeolomeningocele
high level of lesion (into the thoracic region)
71
3 developmental conditions/learning impairments in addition to ID in a child with agenesis of the corpus collosum
Language impairment Attention-deficit/hyperactivity disorder Gross/fine motor delay
72
Benefits of SDR ?
Improvements in lower limb spasticity · Increase in the range of movement at the lower limb joints (impairment dimension) and either no change or improvement in lower limb strength · Moderate degree of certainty that these improvements in the impairment dimension are maintained up to 5 years after SDR and some weaker evidence that the improvements are maintained in the even longer term · In ambulatory patients, improved range of movement in the lower limbs during walking and increased stride length after SDR and moderate evidence for increased gait velocity · Evidence that there is an increased GMFM after SDR · Improvements in self-care and performance of activities of daily living after SDR
73
definition of CP
A group of disorders of the development of movement and posture, causing activity limitation, that are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, cognition, communication, perception, and/or behaviour, and/or by a seizure disorder.
74
3 ways to decrease risk of osteopenia in CP
Nutritonal counseling & dietary recommendations (calcium intake) Supplemental Vitamin D - 800-1000 IU daily Weight bearing
75
6 items of DDx for idiopathic toe walking
a) tethered spinal cord b) ASD c) cerebral palsy d) neuromuscular disorder (Spinal Muscular Atrophy) e) Muscular Dystrophy (Duchenne, Becker) f) Peripheral neuropathy (Charcot Marie tooth) g) Equinovarus foot deformity h) Congenital achilles contracture
76
5-year-old with GMFCS III what can this child do that GMFCS IV can’t, list 3 things
a) Sit on a regular chair b) Move in and out of chair independently using a surface to push or pull on c) Climb stairs with assistance d) Use a hand held mobility device on level surfaces
77
Child with GMFCS IV parents want to know if they’ll walk by 18 years old, 3 things to counsel on
a) A child classified as GMFCS IV would not be expected to walk b) GMFCS is a valid predictor of motor function and does not change over time c) Important to plan rehabilitation with the GMFCS level in mind
78
What are the 4 best predictors of mobility in a child with spina bifida?
history of shunting for significant hydrocephalus spine level of lesion history of surgical release of hip or knee contractures -cognitive abilities -access to resources
79
5 features of MSK exam in idiopathic tone walking
Toddler Symmetrical exam Can bring heels to floor Normal strength - no weakness Normal reflexes - absence of increased reflexes Normal tone - no hypertonia Normal sensation Well coordinated gait pattern Older Children May have decreased ROM (dorsiflexion) May have contractures Gastroc, soleus and achilles tightness
80
24 month old with SMA type 2. What MSK complications do you need to watch out for to ensure she can be independent in her mobility
Scoliosis Contractures Hip dislocation Fragility fractures Muscle Weakness
81
What is the international consensus on the minimum age to use power mobility in a child with normal cognitive function, vision etc.
12- 18 months
82
Contraindications to botox? Name 5
-significant swallowing concerns / risk of aspiration -allergic reaction -excess weakness -generalized tone/too many target muscles -severe fixed contractures -bony torsion and joint instability -bleeding disorders Neuromuscular conditions Active bladder infxn and urinary incontinence (or urinary incontinence actively being treated and UNABLE TO VOID) Injection site infxn Poor respiratory reserve Allergy
83
3 reasons GMFCS should NOT be used in populations other than CP?
Not been validated in populations other than CP Not reliable for conditions other than CP Not developed to be an outcome measure
84
what is Tardieu scale used for? What does it measure?
Used for: -Quantify spasticity -identify contractures Measures: Spasticity
85
CP GMFCS II what would you discuss regarding sexuality
Fertility / contraception Safe sex (identity, consent, condoms, STI prevention) Support with sexual function (ejaculation, erection) Vaccines, HIV prevention Positioning and comfort
86
describe GMFCS IV abilities in seated, transfers & standing, walking, wheelchair needs
-adapted seating, transfer and standing with 1-2 people (but may support weight with legs), walking with body support walker, conventional WC pushed by someone else, might be able to operate motorized WC
87
6 hyperkinetic disorders (types of hyperkinesis) of childhood
Dystonia Tics Stereotypies Tremor Myoclonus Chorea
88
4 characteristics of movement disorders to evaluate (to differentiate types)
Rhythmic Involves repeated postures involves stereotypes movements is suppressible
89
4 characteristics that differentiate tics from stereotypies
Rhythmic (stereotypies) vs nonrhythmic (tics) Preceding urge/thought (tics) vs no preceding urge/thought (stereotypies) Continual (stereotypies) vs discrete (tics) Change in location/type (tics) vs no change in location/type (stereotypies)
90
5 components of constipation management
diet, hydration, exercise education bowe routines clean out maintenance therapy
90
8 areas to assess for on history in a child with GMFCS III who has nutritional concerns
Weight changes Developmental skills related to feeding Equipment use Feeding time Respiratory distress with feeds GERD symptoms Stress at mealtimes Dietary restrictions or food refusal
91
4 side effects specific to levodopa carbidopa
nausea/vomiting Dyskinesia Orthostatic hypotension peripheral neuropathy impulse control disorder behavioral concerns Withdrawal Somnolence
92
indication for serial casting in idiopathic toe walking in
-10 to 10 degree dorsiflexion
93
3 physical features you can ask about on hx or see on physical that indicate nutritional compromise (aside from growth measurements)
fractures pallor decreased subcutaneous tissue menstration changes
94
2 alternatives to BMI to assess the nutritional status of a patient with CP
DEXA scan skinfold measurements
95
4 reasons for Gtube in GMFCS IV
Feeding efficiency if prolonged feeding Frequent aspiration FTT or nutritional deficiency Respiratory distress while feeding GErD Dysmotility
96
4 medications for treatment of chronic functional constipation
Senna Bisacodyl Lactulose PEG3350
97
3 treatments for nocturnal enuresis
Alarm system DDAVP Imipramine (NOT behavior therapy)
98
4 signs of organic cause for encopresis
lower imb weakness decreased lower limb tone hyporeflexia, areflexia reduce anal tone lack of anal wink
99
meds for clean-out constipation
PEG3350 Enema lactulose glycerin suppository
100
Risk factors for iron deficiency in GDD and investigations
Restrictive diet High milk intake prematurity Low SES Exclusive breast feeding > 6 months Lead exposure low dietary intake of iron rich foods CBC ferritin iron studies
101
factors in treating encopresis
education bowel routine disimpaction maintenance therapy dietary modification
102
Side effects of B-complex vitamins
thrombosis pruritis diarrhea anaphylaxis Acne abdominal pain headache paresthesia
103
You are seeing a 10 year old boy with a previous diagnosis spastic diplegic CP for assessment. Name 5 features on examination and/or history that would make you concerned for a diagnosis of hereditary spastic paraplegia?
Family history fo CP or neuromotor disorders Bladder dysfunction Pes cavus or hammer toes Impaired vibration sense in the elgs progressive symptoms
104
3 most common causes of pain in CP?
dystonia constipation hip disclocation
105
List 5 pain behaviors seen in children with severe neurologic impairments
Vocalizations Facial expression consolability interactions sleep changes movement tone physiologic - tachycardia, sweating atypical features - laughter, breath holding, slef injury
106
5 medications for pain with severe NDD
gabapentin amitriptyline clonidine morphine methadone

RC Prep - Dev Peds (12 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions