APA (Old Order Amish; Eastern Pennsylvania)

Inheritance: autosomal recessive
Genes: no known gene

No alternate names

Delayed mental development
Near sightedness
Myopia
Deafness
Cochlear deafness

Deafness, Cochlear, plus

Clinical Characteristics

General description (for patients):

The full range of symptoms and signs in this disorder are unknown as only two families have been reported.  One, reported in 1968, is an Amish family in Lancaster County, Pennsylvania with 4 of 7 sibs with profound deafness and nearsightedness.  Because of severe and early limits to visual and hearing stimulation, it was not possible to determine how much of their developmental slowness was a result of their sensory deprivation.

Medical description:  

Autosomal recessive deafness is relatively common in Amish communities and myopia is prevalent in all populations.  However, in this family the cochlear origin of the deafness with high myopia (-12 diopters), and delayed mental maturation in 2 boys and 2 girls born to a consanguineous union seems to be unique.  Prolonged and profound sensory deprivation before myopia and deafness were discovered could account for much of the mental slowness.

Genetics:  

Autosomal recessive inheritance is suggested by the Amish pedigree pattern.  A Finnish family with myopia and deafness reported earlier also had congenital renal disease.  In neither case have genomic studies been performed.

Treatment:  

Glasses and hearing aids are obviously of benefit.

Prognosis:   

Excellent.

Ancillary treatments and support:

Speech therapy, visual aids.

Specialists and specialty centers:

Audiologist, Ophthalmologist, Pediatrician.

References:

Eldridge, R., Berlin, C.I., Money, J.W., and McKusick, V.A.:  Cochlear deafness, myopia, and intellectual impairment in an Amish family.  A new syndrome of hereditary deafness.  Arch. Otolaryng. 88: 49-54, 1968. PubMed ID: 5660029

Ohlsson, L.:  Congenital renal diseases, deafness and myopia in one family.  Acta Med. Scand. 174: 77-84, 1963.PubMed ID: 14042467