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PM&R Pediatric Boards > A3 Neurologic Disorders 101-100 > Flashcards

A3 Neurologic Disorders 101-100 Flashcards

1
Q

What is the GAS test/measure

A

Goal Attainment Scale (GAS) Was developed in 1968 and used to evaluate mental health programs. It has been used widely and updated since then. It has been used for Pediatric development measuring

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2
Q

Features of Erb’s Palsy

A
  1. Upper trunk 2. C5 and C6 3. Arm adducted and internally rotated 4. Forearm extended 5. Hand pronated 6. Weak wrist extension with preserved fingers
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3
Q

What is Sinding Larsen Johansson

A

Apophysitis of bottom of the patella

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4
Q

What is the age that is the cut off for beneficial results of brachial plexus surgery?

A

1 year (past not good)

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5
Q

What is Sever’s Disease

A

Calcaneal Apophysitis

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6
Q

Most common congenital limb deficiency

A

Amniotic bands causing transverse amputation

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7
Q

prednisone versus Deflazacort in Duchenne

A

decreased weight issues Increased risk of cataracts

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8
Q

name 3 childhood onset muscular dystrophies

A
  1. Duchenne 2. Emery-Dreifuss 3. Some forms of limb girdle
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9
Q

Juvenile Dermatomyositis (Most common juvenile inflammatory myopathy of childhood) Name 4 features

A
  1. Gottron’s Papules 2. Heliotrope Rash 3. Periorbital edema 4. Malar rash
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10
Q

Features of Psoriatic Arthritis (JIA)

A

Arthritis and Psoriasis Positive family history of psoriasis 1st degree relative Plus dactylics or appropriate fingernail abnormalities

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11
Q

Incidence of Brachial Plexus Palsy

A

1.5 per 1,000 live births

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12
Q

Features of Oligoarthritis (JIA)

A

<5 joints Persistent and remains <5 joints Extended <5 joints for 6 months then increases

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13
Q

Features of Systemic Arthritis (JIA)

A
  1. Fever 2. Rash 3. Lymphadenopathy 4. Hepatosplenomegaly
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14
Q

3 Types of Myasthenia Gravis (Pediatric)

A
  1. Neonatal – due to transfer of of antibodies from MG mom to baby
  2. Congenital – genetic
  3. Acquired – autoimmune
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15
Q

Hereditary Spastic Paraparesis Type 4. Which gene mutation and inheritance

A

SPAST Autosomal dominant

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16
Q

Myotonic Dystrophy (a congenital myopathy) Name 4 features

A
  1. Clubfoot 2. Hypotonia 3. Respiratory Difficulty 4. Intellectual disability
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17
Q

which is true of spinal muscular atrophy (SMA)? A. In 95% of the patient the survival motor neuron gene 1 (SMN1) lacks function B. The number of copies of the survival motor neuron gene to (SMN2) determines both the age of onset and the severity of the disease C. The survival motor neuron gene is on the X chromosome The. All forms of spinal muscular at her fetal in early childhood

A

B. the number of copies of the survival motor neuron gene 2 (SMN2) determines both the age of onset and the severity of the disease All patients with spinal muscular atrophy type a missing or nonfunctional SMN1 gene. The SMN gene is on chromosome 5. 95% of cases of SMA are due to autosomal recessive defects, however 100% of patients have a non-function SMN1 gene. The number of copies of the SMN to gene determines the severity of his. Although the most severe forms of SMA are we are there are only 1 or 3 copies of the SMN2 gene can be fatal in early childhood, many of the milder forms are compatible with survival well into adulthood

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18
Q

SMA Type 3a Age at onset Highest function Natural death SMN2#

A

18 mo- 3 years Stand alone Death Adult SMN2# 3,4 copies

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19
Q

Peripheral Neuropathy of children

A

CMT most common Disorder of myelination axons

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20
Q

Features of Erb’s Plus

A
  1. Upper and Middle Trunk 2. C5 to C7 3. Arm adducted and internally rotated 4. Forearm extended 5. Hand pronated 6. Weak wrist extension 7. Wrist and fingers flexed
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21
Q

Differential for Brachial Plexus Palsy

A
  1. Psudoparalysis from clavicle fracture 2. Septic arthritis 3. Spinal cord injury 4. cervical cord injury 5. congenital varicella of the upper limb 6. arthrogryposis 7. Poland syndrome
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22
Q

Congenital limb deficiency What is the most affect limb?

A

Upper Extremity

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23
Q

Features of Kumpke

A
  1. C8 to T1 2. Claw hand with extension of MCP and flexion of IP due to loss of hand intrinsics
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24
Q

What is osgood-Schlatter Disease

A

Apophysitis of tibial tubercle

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25
Q

Mitochondrial Myopathy (A congenital myopathy) Described 1980

A

-Multi system dysfunction -Coenzyme q10 helpful

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26
Q

Duchenne stats

A

1 in 5,000 male live births X linked Xp21 Ambulation 8-12 Like expectancy 20+

27
Q

All the following are conditions associated with toe walking EXCEPT: a. autism b. CP c. Muscular Dystrophy d. Childhood onset schizophrenia e. Osgood-Schlatter disease

A

e. Osgood-Schlatter All other are associated with idiopathic toe walking

28
Q

Features of Polyarthrititis (JIA)

A
  1. >4 joints 2. Polyarthritis RF negative 3. Polyarthritsi RF positive
29
Q

SMA Type 4 Age at onset Highest function Natural death SMN2#

A

> 21 years Stand alone Death adult SMN2# 4-8

30
Q

EMG findings in Acquired Myasthenia Gravis

A

At least 10% decrement with 2 - 3 Hz repetitive nerve stim

Increased jitter and blocking on single fiber EMG

31
Q

What is the COPM test/measure?

A

The Canadian Occupational Performance Measure (COPM) is a standardized outcome measure in which the child/caregiver identifies individual goals for occupational performance and rates their performance and satisfaction for each goal on a scale of 1 to 10 (where 10 is the highest)

32
Q

SMA Type 3 Age at onset Highest function Natural death SMN2#

A

> 18 months Stand alone Death Adult SMN# 3,4 Copies

33
Q

Spondylolisthesis/spondylosis and Scheuerman’s disease

A

–Scheuerman’s Osteonecrosis (interruption of blood supply)

34
Q

Timing of prosthesis

A

Upper: Fitting at age of independent sitting with hands free (9 months). Activation of terminal device at 24 months Lower: First fits at age of standing independently (12 mo), Articulated foot at about age 5 Articulated knee at 3-4

35
Q

SMA Type 1 Age at onset Highest function Natural death SMN2#

A

0-6 months Never Sit Death < 2 years SMN# 2 copies

36
Q

SMA Type 2 Age at onset Highest function Natural death SMN2#

A

<18 months Never Stand Death > 2 years SMN# 3,4 copies

37
Q

4 types of Brachial Plexus palsy

A
  1. Erb’s 2. Erb’s Plus 3. C5 to T1 4. Kumpke
38
Q

Which predicts a good outcome for Erb’s brachial plexus palsy? a. Horner’s syndrome b. Antigravity biceps age 3 months c. antigravity finger flexion age 3 months d. shoulder internal rotators stronger than external rotators

A

b. Antigravity biceps by age 3 months Prognosis for brachial plexopathy is excellent if child can flex antigravity biceps by 3 months. Antigraphity finger flex and increased strength of shoulder internal versus external rotators are expected as part of Erb’s. Children with Horner’s tend to have more severe arm weakness and poor outcome

39
Q

What is the general categories by age of muscular dystrophies?

A

congenital Childhood onset Late childhood/adult onset

40
Q

Features of C5 to T1

A
  1. Flail arm 2. Horner’s syndrome (miosis (constriction of the pupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face)) 3. Diaphragmatic paralysis
41
Q

Incidence of congenital limb deformity

A

8/10,000 live births

42
Q

All of the below represent differences between Becker and Duchenne EXCEPT: a. Becker affects boys and girls equally b. Becker is rarer than Duchenne c. Symptoms later in Becker with gradual loss of strength d. Both affects dystrophin but Beckers there is abnormal production and Duchenne dystrophin absent

A

a. Becker DOES NOT affect boys and girls equally Becker Muscular Dystrophy is a genetic disorder with abnormal production of dystrophin on Xp21. X-linked recessive. Females are carriers. Symptoms are later than Duchenne. Symptoms are milder

43
Q

Testing for Duchenne

A

elevated CPK Absence of dystrophin and blood test Muscle biopsy showing myonecrosis, fibrosis, absence of dystrophin on antibody testing EMG showing low voltage, short duration and polyphasic action potential Genetic testing showing dystrophin gene mutation

44
Q

Prognosis Brachial Plexus injury

A
  1. 66 to 95% recovery 2. 3 months of age, positive predictive value of regained elbow flex is 100% for complete recovery 3. When shoulder external rotation and forearm supination is used, positive predictive value 99% and 96%
45
Q

Which organ might be involved in acquired MG?

How often?

A

Thymus

Hyperplastic

Produces acetylcholine receptor antibodies

80% have Thymus involvement

46
Q

SMA Type 3b Age at onset Highest function Natural death SMN2#

A

> 3 years Stand alone Death Adult SMN# 4

47
Q

Features of FascioScapuloHumeral Muscular Dystrophy

A

Autosomal Dominant, many new mutations

Face weak

Winged scapula

Hip, thigh, and lower leg weakness in time

Forearms relatively spared (Popeye)

Often normal life expectancy

48
Q

name 2 forms of late childhood/adult onset muscular dystrophies

A
  1. Becker 2. Fascioscapulohumeral Dystrophy
49
Q

Effect of Prenisone on Duchenne

A

increased strength Extend ambulation 2-4 years Possibly decrease risk of scoliosis Possibly decreased cardiomyopathy

50
Q

Mucolipidoses

A

Mucolipidosis is a group of inherited metabolic disorders that affect the body’s ability to carry out the normal turnover of various materials within cells.[1]

When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses.[2] A biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I (sialidosis) is now classified as a glycoproteinosis,[2] and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.[3]

51
Q

Mucopolysaccharidoses

A

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs (formerly called mucopolysaccharides) are also found in the fluids that lubricate joints.

52
Q

Treatment of options JIA

A
  1. NSIADs 2. Glucocorticoids 3. DMARDS (non-biologic disease modifying anti-rheumatic drugs) 4. Biologic DMARDS -TNF inhibitors -Interleukin 1 or 6 inhibitors
53
Q

Associated syndromes with congenital limb deficiencies

A

Longitudinal deficiencies (one bone or region) -TAR (Trombocytopenic absent radius) -VATERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.)

54
Q

Complication of Acquired limb deficiency

A

If through diaphysis, distal bone may grow disproportionately and grow through distal tissue and cause infection. Therefore disarticulation is favored with added advantage of epiphyseal growth

55
Q

Evalution of brachial plexus injury in newborn nursery

A
  1. Eval for fractures of clavicle, humerus, c-spine 2. Check SCM for torticollis 3. Check for symmetry of Moro 4. Check for ptosis and pupil size
56
Q

Guillian Barre

A

Most common childhood inflammatory neuropathy

57
Q

Mucolipidosis

A

Mucolipidosis is a group of inherited metabolic disorders that affect the body’s ability to carry out the normal turnover of various materials within cells.[1]

When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses.[2] A biochemical understanding of these conditions has changed how they are classified. Four conditions (types I, II, III, and IV) were historically labeled as mucolipidoses. However, type I (sialidosis) is now classified as a glycoproteinosis,[2] and type IV (Mucolipidosis type IV) is now classified as a gangliosidosis.[3]

58
Q

Features of Limb-Girdle Muscular Dystrophy

A

Group of phenotype and genotype disorders

Progressive weakness of proximal upper and lower muscles

Both autosomal dominant and recessive forms

Various age of onset child to adult

Variable life expectancy, earlier worse

Some cardiac involvement

59
Q

Idiopathic Toe walking

A

Common until 2 After 3 consider neurologic, developmental, and psychiatric (autism) Possible genetic component Natural history unknown PT does not correct Serial casting, bracing, Botox, and Surgery helpful

60
Q

Sphingolipidoses

A

Sphingolipidoses

Other namesSphingolipidosis

Diagram showing some of the sphingolipidoses

SpecialtyMedical genetics

Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations such as Ashkenazi Jews. Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood.

61
Q

What is Poland Syndrome?

A

is a birth defect characterized by an underdeveloped chest muscle and short webbed fingers on one side of the body. Short ribs, less fat, and breast and nipple abnormalities may also occur on that side

62
Q

SMA Type 0 Age at onset Highest function Natural death SMN2Sphingolipidoses

A

Prenatal Respiratory support Death < 1mo SMN, 1 Sphingolipidoses are a class of lipid storage disorders relating to sphingolipid metabolism. The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations such as Ashkenazi Jews. Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood.

63
Q

Features of Myasthenia Gravis

A

Weakness that improves with rest

Ptosis and diplopia

Dysphagia

Dysphonia

Respiratory decrease

Proximal muscle weakness

64
Q

Juvenile Idiopathic Arthritis (JIA) -no longer JRA Types

A
  1. Sytemic arthritis (15%) 2. Polyarthritis (30%) 3. Oligoarthritis (50%) 4. Enthesitis-related arthritis 5. Psoriatic arthritis

PM&R Pediatric Boards (14 decks)

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