Common Etiologies of Deafblindness

Syndromes


Etiology
Cause / Incidence
Vision
Hearing
Other
CHARGE Syndrome
Genetic (research is ongoing in this area)
C for Coloboma:
lesion on the eye which can impair vision depending on location; present in 75% of people
E for ear anomalies/deafness: mild to profound mixed loss bilaterally; chronic otitis media
H for heart disease; A for atresia; R for retarded growth; G for genital hypoplasia: genital abnormalities in males

Usher Syndrome

Genetic
Accounts for 50% of deafblindness

3-6% of children with hearing impairments have Usher Syndrome; Types I - IV classifications are based upon the degree of sensory loss and cognitive functioning

Night blindness usually first sympton of retinitis pigmentosa, can occur as early as preschool; visual loss often not noticed until late childhood or adolescence

First sympton that is diagnosed; severe to moderately severe sensorineural loss, bilateral, greater loss in higher frequencies


Congenital Infections
Congenital Rubella
Mothers infected in first 6 weeks of pregnancy have babies with 2 or 3 of the following characteristics: cataracts, deafness, severe to clinically unapparent heart disease
Congenital cataracts are common, occur in 20-70% of infants, pigmentary retinopathy, strabismus, glaucoma
Mild to profound sensorineural loss, unilateral or bilateral, audiograms - "belly-like" curves with greatest loss at 1,000 hz
Cardiac defects, microencephaly, meningo-encephalitis

Cytomegalo-virus (CMV)

Asymptomatic
infection

Blindness at birth, progressive inflammation of eyes which can lead to blindness

Deafness

Microencephaly, seizures, cognitive delays

Syphilis

Intrauterine infection or acquired during birth with contact of lesions in birth canal

Blindness at birth, or progressive inflammation which can lead to blindness

Deafness

Anemia, bone inflammation, cognitive delay, skeletal anomalies, dental abnormalities

Toxoplasmosis

Parasite in raw meat or kitty litter, in pregnancy parasite can cross placenta to fetus

Blindness at birth, or progressive inflammation of eyes which can lead to blindness

Deafness

Microcephaly,
seizures, cognitive delays

Herpes

Intrauterine infection contracted during passage through the birth canal of infected mother, .03 to .3 per thousand births

Disease of the retina, or moderate to severe visual impairment

Deafness at birth or mild to profound hearing impairment

Microencephaly, encephalitis, seizures, cognitive delays, central nervous system damage, periodic herpes skin rash


Other

Prematurity
Problems with vision and hearing usually only occur in babies who are born very early, at 32 weeks of pregnancy or earlier.

Retinopathy of prematurity

Deafness