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P3 > PEDIA (Syndrome & Learning Disabilities) > Flashcards

PEDIA (Syndrome & Learning Disabilities) Flashcards

1
Q

Caused by a genetic defect in the type IV collagen

A

Alport’s syndrome

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2
Q

Hereditary nephritis syndrome

A

Alport’s syndrome

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3
Q

In Alport’s syndrome, what could develop if the disease progresses?

A

Tubular atrophy,
Interstitial inflammation
Fibrosis & foam cell

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4
Q

What are the ocular features of Alport’s syndrome?

A

-Bilateral anterior lenticonus & perimacular retinal flecks
-Thinned basal lamina w basement membrane disruptions
-Posterior lenticonus
-Perimacular yellow flecks
-Corneal finding:
-Posterior polymorphous dystrophy
-Corneal arcus
-Recurrent nontraumatic corneal erosions

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5
Q

What is seen in the figure in Alport’s?

A

a. Perimacular flecks
b. Peripheral flecks

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6
Q

What are the systemic features of Alport’s? (TTHIMP)

A

-Thrombocytopenia
-Macrothromocytopathia
-Hypoparathyroidism
-Polyneuropathy
-Ichthyosis
-Thyroid abnormalities

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7
Q

What are the treatments for Alport’s

A
  • Renal plantation is usually very successful
  • Dual sensory loss in px create urgent need for appropriate vision & care and rehabilitation
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8
Q

A syndrome of retinal degeneration combined with obesity, diabetes mellitus, and sensorineural hearing loss

A

Alstrom Syndrome

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9
Q

What are the ocular features of Alstrom syndrome?

A

-Posterior subcapsular cataracts
-Iris & ciliary body lacy vacuolization & asteroid hyalosis
- Retinitis pigmentosa & large, superficial optic nerve drusen
-Infantile cone & rod dystrophy

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10
Q

What are the treatment for Alstrom?

A

-No treatment for vision loss secondary
-Mx of endocrine, cardiac, and kidney disease is critical, although a shortened lifespan is expected

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11
Q

Prognosis for Alstrom

A

Rapid & progressive loss of visual function to less than 20/200 by 10 years of age & no light perception

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12
Q

What does CHARGE stand for?

A

-Coloboma
-Heart defects
-Atresia Choanae
-Growth Retardation
-Genital Abnormalities
-Ear abnormalities

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13
Q

In CHARGE, Choanal atresia is present in ____% of patients

A

58%

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14
Q

Growth deficiency is usually postnatal & affects all body in a symmetrical fashion

A

CHARGE Association Syndrome

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15
Q

Mental development is affected & Genital hypoplasia is more prone to recognized

A

CHARGE Association syndrome

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16
Q

Ocular features of CHARGE (BIP-COM)

A

-Iris colobomas, posterior colobomas of choroid of optic nerve w no visual impairment
-Microphthalmia
-Optic nerve hypoplasia
-Persistent hypoplastic primary vitreous
-Congenital glaucoma
-Bilateral Marcus-Gunn jaw winking phenomenon

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17
Q

Individuals with CHARGE who survive initial neonatal & infantile period merit ______ ________ of the sensory function to enable _________ development

A

Vigorous rehabilitation, psychomotor

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18
Q

_________ is indicated in individuals with swallowing difficulty

A

Nasogastric feeding

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19
Q

In presence of facial palsy, avoid scarring by using ______

A

artificial tears

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20
Q

In males with CHARGE, what therapy for penile growth

A

Androgen therapy

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21
Q

Too severe form of erythema multiform with extensive skin & mucous membrane involvement along with fever and affection of kidneys, gastrointestinal tract & central nervous system.

A

Stevens-Johnson Syndrome

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22
Q

In Stevens-Johnson, ocular involvement is much less common in _________

A

Toxic epidermal necrolysis

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23
Q

In Stevens-Johnson, who is more affected

A

Males are more than affected than females

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24
Q

What are the ocular features of Steven-Johnsons

A

-Crusty eyelids associated with transient, self-limiting papillary conjunctivitis
-Severe membranous or pseudo membranous conjunctivitis with patchy conjunctivital infarction is less common
-Reticular scarring of the upper tarsal plate
-Conjunctival keratinization & forniceal shortening
-Dry eye resulting from loss of the goblet cells & destruction of lacrimal gland ductules
-Corneal keratinization
-Keratopathy secondary to cicatricial entropion, aberrant lashes & infection
-Posterior lid margin disease w opening of meibomian orifices onto ocular surface
-Conjunctival scarring & symblepharon formation

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25
Q

Treatment for Steven-Johnsons?

A

-Systemic diseases: maintain hydration
-Debridement & replacement of sloughing skin
-Systemic steroids are occasionally prescribed
-Lubrication & prevention of exposure
-Topical steroids & antibiotics
-Lysis of conjunctival adhesions

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26
Q

Characterized by presence of abnormalities of the eye, aorta, and skeleton

A

Marfan’s Syndrome

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27
Q

About ______ of patients, do not develop lens subluxation

A

355

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28
Q

Cause due to mutation of the fibrill in gene chromosome

A

Marfan’s Syndrome

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29
Q

Ocular features of Marfan’s

A

-Subluxation of crystalline lens
-Myopia, microcornea, keratoconus, and occasionally retinal detachment & glaucoma
-Stretched zonular fibers can be seen through the dilated pupil
-Coloboma of the lens
-Microspherophakia
-Iridodonesis results from lens subluxation
-Strabismus

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30
Q

Characterized by mental handicap, epicanthic folds, upward slanting palpebral fissures, broad short hands & a protruding tongue

A

Down Syndrome

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31
Q

What are the systemic features of Down Syndrome

A

-Mental handicap
-Upward slanting palpebral fissures
-Epicanthic folds
-Broad short hands & a protruding tongue

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32
Q

Ocular features of Down Syndrome

A

Cataract of varying morphology occurs in about 75% of px. The opacities are usually symmetrical & often develop in childhood

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33
Q

Self-limited illness caused by the fastidious gram-negative bacillus

A

Cat-scratch disease

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34
Q

Transmitted via the scratch or bite of a cat or kitten

A

Cat-scratch disease

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35
Q

Characterized by lymphadenopathy of local lymph nodes draining the site of infection

A

Cat-scratch disease

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36
Q

Ocular features of Cat-scratch disease

A

-VA is impaired to a variable degree
-Papillitis associated with peripapillary & macular edema
-Macular star composed of hard exudates
-After several months VA improve
-The fellow eye occasionally becomes involved but recurrences in the same eye are uncommon
-Parinaud oculoglandular syndrome
-Focal choroiditis
-Intermediate uveitis
-Exudative maculopathy
-Retinal vascular occlusion
-Panuveitis

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37
Q

Treatment for Cat-scratch disease

A

The most effective antibiotics are Rifampin, Ciprofloxacin, Intramuscular Gentamicin & Trimethoprim - Sulfamethoxazole

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38
Q

A double-stranded DNA virus

A

Herpes simplex virus

39
Q

________ is most commonly found in lesion of oral, the eye and on skin

A

HSV-1

40
Q

_______found in lesion on the genitalia and the skin and the skin of the thighs

A

HSV-2

41
Q

Herpes simplex virus is transmitted during periods of _________

A

Asymptomatic shedding of virus by infected persons

42
Q

Ocular features of Herpes simplex virus

A

-Conjunctivitis, keratitis & chorioretinitis
-Lateral blepharoconjunctivitis
-Follicular conjunctivitis
-Recurrent HSV karatitis such as stromal scar formation & induced astigmatism may lead to Amblyopia

43
Q

Treatment for Herpes simplex virus

A

-Systemic/posterior ocular disease, the mainstay of therapy is intravenous acyclovir
-Conjunctival or corneal involvement should be managed with the use of topical Trifluridine 1%
-Epithelial keratis is treated with topical antiviral therapy, Trifluridine solution every 2hour or Vidarabine

44
Q

Acute viral infection of children

A

Rubella

45
Q

Characterized by low-grade fever, rash and lymphadenopathy

A

Rubella

46
Q

Infection during pregnancy can result in fetal infection with severe congenital defects

A

Rubella

47
Q

In Rubella, transmission occurs by _____

A

Droplets from respiratory secretions

48
Q

Ocular features of Rubella

A

-Conjunctivitis, keratitis, rarely retinitis
-Retinitis - occur rarely & presents with atrophy, hypoplasia of the ciliary body & hypoplasia of the iris dilator muscle
-The characteristic “salt-and-pepper” retinopathy typically appears in the macula & in periphery of both eye
-Cataract, microphthalmia, glaucoma, anterior uveitis, & corneal haze

49
Q

Treatment for Rubella

A

Cataract surgery can be performed

50
Q

Resulting from primary infection with Varicella-Zoster Virus (VHV)

A

Varicella-Zoster

51
Q

Spread airborne droplets & direct contact with infected lesions

A

Varicella-Zoster

52
Q

_____________ results from transplacental spread of the virus by an infected mother

A

Congenital Varicella

53
Q

Ocular features of Varicella-Zoster

A

-Papillary conjunctivitis & conjunctival vesicle formation
-Epithelial keratitis or mild nongranulomatous anterior uveitis
-Internuclear ophthalmoplegia & oculomotor palsy
-Cranial nerve palsies
-Dermatitis of eyelids lead to secondary bacterial infections
-Follicular conjunctivitis, episcleritis, scleritis
-Elevated intraocular pressure
-Optic neuritis & retinal necrosis

54
Q

Treatment of Varicella-Zoster (TAMS)

A

-Anterior uveitis or stromal keratitis with decreased VA may require therapy with topical steroids
-Systemic acyclovir
-The cutaneous lesion can be treated with moist compress & antibiotic ointments

55
Q

Problems that affect the brain’s ability to receive, process, analyze, or store information

A

Learning disabilities

56
Q

These problems can make it difficult for a student to learn as quickly as someone who isn’t affected by learning disabilities

A

Learning disabilities

57
Q

Group of disorders that affect a broad range of academic & function skills

A

Learning disabilities

58
Q

LD includes ability to (LOWSSRR)

A

-Speak
-Listen
-Read
-Write
-Spell
-Reason
-Organize information

59
Q

Definition of Learning Disability as per the Diagnostic & Statistic Manual

A

Learning Disorders are diagnosed when the individual’s achievement on individually administered, standardized tests in reading, mathematics or written expression is substantially below that expected for age, schooling and level of intelligence. The learning problems significantly interfere with academic achievement of activities of daily living

60
Q

The ICD-10 1999 Definition of LD

A

Learning disorders (LD) refer to significant deficit in learning due to a person’s inability what is seen & heard, or to link information from different parts of the brain (GEON, 2005).

61
Q

Causes of Learning Disability (HAP)

A

-Heredity
-Problem during pregnancy & birth
-Accidents after birth

62
Q

LD that runs in the family. Children with learning disabilities are likely to have parents or other relatives with similar difficulties.

A

Hereidty

63
Q

LD that result from anomalies in developing brain, illness, or injury, fetal exposure to alcohol or drugs, low birth weight, oxygen deprivation or by premature prolonged labor

A

Problem during pregnancy & birth

64
Q

LD that is caused by head injuries, malnutrition, or toxic exposure (heavy metals or pesticides).

A

Accidents after birth

65
Q

Incidence of LD

A

-Estimated 15% of U.S. population
-6% to 8% of school age population

66
Q

4 Types of LD

A

-Disorders of Reading
-Disorders of Mathematics
-Disorders of Written expression
-Learning disorders not otherwise specified

67
Q

Classification of LD

A

-Dyslexia
-Dyscalculia
-Dysgraphia
-Dyspraxia

68
Q

Difficulty in writing, reading, spelling

A

Dyslexia

69
Q

Mathematic & computation problems

A

Dyscalculia

70
Q

Difficulty with writing, spelling, and composition

A

Dysgraphia

71
Q

Problems with manual dexterity & coordination

A

Dyspraxia

72
Q

Speech & language disorders

A

Dysphasia/Aphasia

73
Q

What are the speech & language disorders

A

-Difficulty producing speech sounds (articulation disorder)
-Difficulty putting ideas into spoken form (expressive disorder)
-Difficulty perceiving or understanding what other people say (receptive disorder)

74
Q

Difficulty producing speech sounds

A

Articulation Disorder

75
Q

Difficulty putting ideas into spoken form

A

Expressive disorder

76
Q

Difficulty perceiving or understanding what other people say

A

Receptive disorder

77
Q

General term for reading disability which involves difficulty in phonetic mapping, where sufferers have difficulty with matching various orthographic representations to specific sounds

A

Dyslexia

78
Q

Involves difficulty with sequential ordering such that a person can see combination of letters but not perceive them in correct order

A

Dyslexia

79
Q

General term for disability in physical writing, usually linked to problems with visual-motor integration of fine motor skills

A

Dysgraphia

80
Q

General term for disability in mathematics

A

Dyscalculia

81
Q

Early identification & assessment procedures

A

-LD is not curable
-Using compensatory mechanisms to alter functional gaps which are to be initiated early to ensure that the disability is not aggravated further
-The child must be able to develop & learn to the best of his/her potential

82
Q

Early identification

A

-Early intervention presupposes early identification
-At present, there is no universally standardized screening procedure to guide referrals from schools

83
Q

Assessment of LD

A

-Child must be assessed in all areas related to suspected disability such as health, vision hearing, social and emotional status, general intelligence, academic performance, communicative status, and motor abilities
-Ideal assessment for LD is a long process requiring several sessions with a qualified educational psychologist

84
Q

Assessment procedures steps

A

-Parental Consent & Parent Interview
-Gathering Information from Teacher/School
-Looking at Student Workbooks

85
Q

In primary herpes simplex infection

A

Blepharoconjunctivitis

86
Q

Other name of Alstrom syndrome

A

Alstrom Hallgren

87
Q

What are the pediatric ocular diseases (MAD-CHAR-SCV)

A

-Alport’s syndrome
-Alstrom syndrome
-CHARGE Association syndrome
-Stevens-Johnson syndrome
-Marfan’s syndrome
-Down syndrome
-Cat-scratch disease
-Herpes simplex virus
-Rubella
-Varicella-Zoster

88
Q

Individuals with this syndrome & who survive initial neonatal & infantile period merit vigorous rehabilitation of the sensory function to enable proper psychomotor development

A

CHARGE Association syndrome

89
Q

The results from transplacental spread of the virus from an infected mother

A

Congenital Varicella

90
Q

It is spread by airborne droplets & direct contact with infected lesions

A

Varicella Zoster

91
Q

These are problems that affect the brain’s ability to receive, process, analyze, or store information

A

Learning Disabilities

92
Q

It refers to a group of disorders that affect a broad range of academic & functional skills

A

Learning Disability

93
Q

It is a collective term for speech & language disorders

A

Dysphasia

94
Q

This term refers to complete inability to produce speech & understand language

A

Aphasia

P3 (7 decks)

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