PEDIA (Syndrome & Learning Disabilities) Flashcards
Caused by a genetic defect in the type IV collagen
Alport’s syndrome
Hereditary nephritis syndrome
Alport’s syndrome
In Alport’s syndrome, what could develop if the disease progresses?
Tubular atrophy,
Interstitial inflammation
Fibrosis & foam cell
What are the ocular features of Alport’s syndrome?
-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
What is seen in the figure in Alport’s?
a. Perimacular flecks
b. Peripheral flecks
What are the systemic features of Alport’s? (TTHIMP)
-Thrombocytopenia
-Macrothromocytopathia
-Hypoparathyroidism
-Polyneuropathy
-Ichthyosis
-Thyroid abnormalities
What are the treatments for Alport’s
- Renal plantation is usually very successful
- Dual sensory loss in px create urgent need for appropriate vision & care and rehabilitation
A syndrome of retinal degeneration combined with obesity, diabetes mellitus, and sensorineural hearing loss
Alstrom Syndrome
What are the ocular features of Alstrom syndrome?
-Posterior subcapsular cataracts
-Iris & ciliary body lacy vacuolization & asteroid hyalosis
- Retinitis pigmentosa & large, superficial optic nerve drusen
-Infantile cone & rod dystrophy
What are the treatment for Alstrom?
-No treatment for vision loss secondary
-Mx of endocrine, cardiac, and kidney disease is critical, although a shortened lifespan is expected
Prognosis for Alstrom
Rapid & progressive loss of visual function to less than 20/200 by 10 years of age & no light perception
What does CHARGE stand for?
-Coloboma
-Heart defects
-Atresia Choanae
-Growth Retardation
-Genital Abnormalities
-Ear abnormalities
In CHARGE, Choanal atresia is present in ____% of patients
58%
Growth deficiency is usually postnatal & affects all body in a symmetrical fashion
CHARGE Association Syndrome
Mental development is affected & Genital hypoplasia is more prone to recognized
CHARGE Association syndrome
Ocular features of CHARGE (BIP-COM)
-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
Individuals with CHARGE who survive initial neonatal & infantile period merit ______ ________ of the sensory function to enable _________ development
Vigorous rehabilitation, psychomotor
_________ is indicated in individuals with swallowing difficulty
Nasogastric feeding
In presence of facial palsy, avoid scarring by using ______
artificial tears
In males with CHARGE, what therapy for penile growth
Androgen therapy
Too severe form of erythema multiform with extensive skin & mucous membrane involvement along with fever and affection of kidneys, gastrointestinal tract & central nervous system.
Stevens-Johnson Syndrome
In Stevens-Johnson, ocular involvement is much less common in _________
Toxic epidermal necrolysis
In Stevens-Johnson, who is more affected
Males are more than affected than females
What are the ocular features of Steven-Johnsons (CCCCSKPD)
-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
Treatment for Steven-Johnsons? (SMLLT)
-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
Characterized by presence of abnormalities of the eye, aorta, and skeleton
Marfan’s Syndrome
About ______ of patients, do not develop lens subluxation
355
Cause due to mutation of the fibrill in gene chromosome
Marfan’s Syndrome
Ocular features of Marfan’s
-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
Characterized by mental handicap, epicanthic folds, upward slanting palpebral fissures, broad short hands & a protruding tongue
Down Syndrome
What are the systemic features of Down Syndrome
-Mental handicap
-Upward slanting palpebral fissures
-Epicanthic folds
-Broad short hands & a protruding tongue
Ocular features of Down Syndrome
Cataract of varying morphology occurs in about 75% of px. The opacities are usually symmetrical & often develop in childhood
Self-limited illness caused by the fastidious gram-negative bacillus
Cat-scratch disease
Transmitted via the scratch or bite of a cat or kitten
Cat-scratch disease
Characterized by lymphadenopathy of local lymph nodes draining the site of infection
Cat-scratch disease
Ocular features of Cat-scratch disease
-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
Treatment for Cat-scratch disease
The most effective antibiotics are Rifampin, Ciprofloxacin, Intramuscular Gentamicin & Trimethoprim - Sulfamethoxazole
A double-stranded DNA virus
Herpes simplex virus
________ is most commonly found in lesion of oral, the eye and on skin
HSV-1
_______found in lesion on the genitalia and the skin and the skin of the thighs
HSV-2
Herpes simplex virus is transmitted during periods of _________
Asymptomatic shedding of virus by infected persons
Ocular features of Herpes simplex virus
-Conjunctivitis, keratitis & chorioretinitis
-Lateral blepharoconjunctivitis
-Follicular conjunctivitis
-Recurrent HSV karatitis such as stromal scar formation & induced astigmatism may lead to Amblyopia
Treatment for Herpes simplex virus
-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
Acute viral infection of children
Rubella
Characterized by low-grade fever, rash and lymphadenopathy
Rubella
Infection during pregnancy can result in fetal infection with severe congenital defects
Rubella
In Rubella, transmission occurs by _____
Droplets from respiratory secretions
Ocular features of Rubella
-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
Treatment for Rubella
Cataract surgery can be performed
Resulting from primary infection with Varicella-Zoster Virus (VHV)
Varicella-Zoster
Spread airborne droplets & direct contact with infected lesions
Varicella-Zoster
_____________ results from transplacental spread of the virus by an infected mother
Congenital Varicella
Ocular features of Varicella-Zoster (PICE-DOFE)
-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
Treatment of Varicella-Zoster (TAMS)
-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
Problems that affect the brain’s ability to receive, process, analyze, or store information
Learning disabilities
These problems can make it difficult for a student to learn as quickly as someone who isn’t affected by learning disabilities
Learning disabilities
Group of disorders that affect a broad range of academic & function skills
Learning disabilities
LD includes ability to (LOWSSRR)
-Speak
-Listen
-Read
-Write
-Spell
-Reason
-Organize information
Definition of Learning Disability as per the Diagnostic & Statistic Manual
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
The ICD-10 1999 Definition of LD
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).
Causes of Learning Disability (HAP)
-Heredity
-Problem during pregnancy & birth
-Accidents after birth
LD that runs in the family. Children with learning disabilities are likely to have parents or other relatives with similar difficulties.
Hereidty
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
Problem during pregnancy & birth
LD that is caused by head injuries, malnutrition, or toxic exposure (heavy metals or pesticides).
Accidents after birth
Incidence of LD
-Estimated 15% of U.S. population
-6% to 8% of school age population
4 Types of LD
-Disorders of Reading
-Disorders of Mathematics
-Disorders of Written expression
-Learning disorders not otherwise specified
Classification of LD
-Dyslexia
-Dyscalculia
-Dysgraphia
-Dyspraxia
Difficulty in writing, reading, spelling
Dyslexia
Mathematic & computation problems
Dyscalculia
Difficulty with writing, spelling, and composition
Dysgraphia
Problems with manual dexterity & coordination
Dyspraxia
Speech & language disorders
Dysphasia/Aphasia
What are the speech & language disorders
-Difficulty producing speech sounds (articulation disorder)
-Difficulty putting ideas into spoken form (expressive disorder)
-Difficulty perceiving or understanding what other people say (receptive disorder)
Difficulty producing speech sounds
Articulation Disorder
Difficulty putting ideas into spoken form
Expressive disorder
Difficulty perceiving or understanding what other people say
Receptive disorder
General term for reading disability which involves difficulty in phonetic mapping, where sufferers have difficulty with matching various orthographic representations to specific sounds
Dyslexia
Involves difficulty with sequential ordering such that a person can see combination of letters but not perceive them in correct order
Dyslexia
General term for disability in physical writing, usually linked to problems with visual-motor integration of fine motor skills
Dysgraphia
General term for disability in mathematics
Dyscalculia
Early identification & assessment procedures
-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
Early identification
-Early intervention presupposes early identification
-At present, there is no universally standardized screening procedure to guide referrals from schools
Assessment of LD
-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
Assessment procedures steps
-Parental Consent & Parent Interview
-Gathering Information from Teacher/School
-Looking at Student Workbooks
In primary herpes simplex infection
Blepharoconjunctivitis
Other name of Alstrom syndrome
Alstrom Hallgren
What are the pediatric ocular diseases (MAD-CHAR-SCV)
-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
Individuals with this syndrome & who survive initial neonatal & infantile period merit vigorous rehabilitation of the sensory function to enable proper psychomotor development
CHARGE Association syndrome
The results from transplacental spread of the virus from an infected mother
Congenital Varicella
It is spread by airborne droplets & direct contact with infected lesions
Varicella Zoster
These are problems that affect the brain’s ability to receive, process, analyze, or store information
Learning Disabilities
It refers to a group of disorders that affect a broad range of academic & functional skills
Learning Disability
It is a collective term for speech & language disorders
Dysphasia
This term refers to complete inability to produce speech & understand language
Aphasia
