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The Yemenite deaf-blind hypopigmentation syndrome is a rare disorder characterized by severe early hearing loss, microcornea and colobomata, and cutaneous pigmentation abnormalities. A girl with similar skin symptoms and hearing loss, but no microcornea or colobomata is described and compared to other reported patients.
It took the author eleven months (1-3-1979 to 31-1-1980) to carry out the first part of a study and coordinate a number of working sessions in which he examined the state of the arts and put forward a program for the application of telecommunications, computers and other complementary communication means to the welfare of the disabled. The five areas of study are described in the present article: blindness, deaf-blindness and visual impairment; disability in the family; home-boundness due to disability, chronic illness or advanced age; speech impairments due to non-auditory causes; mental illness and related disorders. The study was carried out as a part of the activities of the "Foundation for the Development of the Social Function of Communications" (Fundacion para el Desarrollo de la Funcion Social de las Comunicaciones) and tries to open up a new perspective in Spain on technological applications for the handicapped. The main feature of the study is the proposal of Rehabilitation Engineering and Technical Aids Centre for the Disabled which starting from the telecommunications area, intends to make available to the handicapped the possibilities offered by technology.
Many categories of handicapped people experience serious difficulties in communicating. Among these are the deaf, whose language development is retarded primarily on account of poor speech control, the deaf-blind, whose only means of communication is touch, and the motor disabled, who often lack speech control and/or the ability to make the movements required to write or type. These disabilities, often associated with neuropsychiatric disorders, negatively affect the learning and the socialization processes of handicapped children. The advent and ever-growing power of personal computers (PCs) has opened up new opportunities in providing tools through which the disabled can vastly improve their communication capabilities. This paper describes some of these developments in Italy.
Early evoked responses to 500-Hz tone bursts were recorded from normal and hearing-impaired children and adults. The threshold values of the early evoked responses provide useful estimates of auditory functioning, even among difficult-to-test populations, such as deaf-blind children. Latency measures indicate that the early response is generated at the brain stem. Latency measures from hearing-impaired subjects show that the response can identify recruitment. Several subjects having a history of nonspecific communication disorders, e.g., dyslexia, exhibited aberrant early evoked response waveforms. The early-evoked response measures, therefore, amy be useful in detecting and assessing communication disorders which are believed to be of cortical origin, but now should be considered to have a basis in brain stem dysfunction.
AI/GEN is an expert model of the diagnosis of deaf-blind syndromes that uses the EXPERT system developed by Rutgers University. Its knowledge structure employs criteria tables for diagnosis of the three types of CHARGE syndrome. The system has been used to test the published diagnostic criteria against the revised expert criteria, the latter being significantly more accurate than the former. The two sets of criteria are also compared with respect to the specificity and sensitivity of diagnosis. Expert systems can be of direct use to experts in refining and revising their diagnostic criteria.
Two hundred and twenty-one disabled children from seven diagnostic groups have been examined with respect to height, weight and prevalence of four different feeding problems. Retarded growth and feeding problems were common in children with cerebral palsy, mental retardation, congenital heart disease and deaf-blindness, but rare in children with esophagus atresia, cystic fibrosis and epilepsy. Mean relative height and weight were significantly lower (p much less than 0.01) in children with mechanical feeding problems, such as impairment of self-feeding skills and oral-motor dysfunction, than in children without these problems, regardless of diagnostic group. Mean relative weight was also significantly lower in children with poor appetite than in children with good appetite. Feeding problems contribute to short stature and underweight in severely disabled children.
Students with mental retardation and deafness or deaf-blindness often need some type of communication system to communicate effectively with communication partners during community-based vocational training. However, students may need specific training to learn how to initiate requests for items or assistance, a skill identified as critical for job success. Students were taught to initiate requests using dual communication boards and gestures. Data were recorded on student performance using a multiple-baseline probe design in which data were collected during baseline, intervention, and generalization phases. Students were able to initiate requests with 80% to 100% accuracy with the communication system at vocational sites. Training students to initiate requests may need to be targeted when students are first learning a job, as this is when most naturally occurring opportunities exist.
Usher syndrome (US) is an autosomal recessive disease characterized by congenital hearing impairment and retinitis pigmentosa. It is the most frequent cause of deaf-blindness in adults and accounts for 3 to 6% of deaf children. Here, we report the genetic mapping of a gene for US type I (USH1A), the most severe form of the disease, to the long arm of chromosome 14, by linkage to probe MLJ14 at the D14S13 locus in 10 families of Western France ancestry (Z = 4.13 at theta = 0). Among them, 8 families originated from a small area of the Poitou-Charentes region (Z = 3.78 at theta = 0), suggesting that a founder effect could be involved. However, since not all US type I families were found to be linked to this locus, the present study provides evidence for genetic heterogeneity of this condition (heterogeneity versus homogeneity test HOMOG, P < 0.05; heterogeneity versus no linkage, P < 0.01).
Much material has been written about the deaf-blind patient diagnosed as having Usher's syndrome, a pathologic condition involving hearing impairment and retinitis pigmentosa. Contrary to the accepted pattern of prelingual deafness in such cases, however, there are a number of patients who report a progressive, postlingual hearing loss associated with retinitis pigmentosa. These patients may suffer from a variation of classical Usher's syndrome. An attempt is made to verify this statement through presentation of case histories and audiologic findings. In addition, diagnostic and rehabilitative techniques employed in assisting patients with these dual impairments are offered.
Experiments with keyboard arrangements of letters show that simple alphabetic letter-key sequences with 4 to 5 letters in a row lead to most rapid visual search performance. Such arrangements can be used on keyboards operated by the index finger of one hand. Arrangement of letters in words offers a promising alternative because these arrangements can be readily memorized and can result in small interletter distances on the keyboard for frequently occurring letter sequences. Experiments on operation of keyboards show that a space or shift key operated by the left hand (which also holds the communication device) results in faster keyboard operation than when space or shift keys on the front of the keyboard (operated by right hand) are used. Special problems of the deaf-blind are discussed. Keyboard arrangements are investigated, and matching tactual codes are suggested.
Auditory brainstem response (ABR) results with 82 severely developmentally delayed infants and children suspected of being both deaf and blind are reported. Of the 79 children on whom acceptable ABR data were obtained, 34 or 43.0% had ABR thresholds in the normal-hearing range; 16 or 20.3% in the mild-to-moderate loss range; and 3 or 3.8% in the severe loss category. Twenty-six or 32.9% produced no ABR to clicks at a maximum intensity of 90 bB HL. On the basis of established audiological and neurological diagnostic criteria, 3 children showed neurological abnormality by ABR. We conclude that the hearing status of a high percentage of otherwise untestable children can be determined by ABR, that a significant number of infants and children who appear deaf are in fact not hearing impaired, and that the occurrence of brainstem neuropathology in this population is limited.
Technical difficulties in the evaluation and care of psychiatric disturbances in a deaf-blind population are described. Experience at the National Center for Deaf-Blind Youths and Adults demonstrated the relevance of etiological, developmental, adaptive, and social factors for the understanding of the clinical syndromes commonly encountered. The importance of such understandings for adequate diagnosis, treatment, and vocational planning is discussed.
We have seen a Yemenite sister and brother with cutaneous hypomelanotic and pigmented spots and patches, microcornea, coloboma, severe hearing loss and normal karyotypes. Histopathological examinations of the skin showed absent melanocytes in the depigmented areas; in the normal and hyperpigmented skin there was abundant melanotic pigment. Similar patients have not been described previously, but there are corresponding mutations in mice and rats.
This study describes the nutritional intake, growth, and early food habits of 10 Norwegian children born deaf and blind. They were 1 girl and 9 boys aged 8 to 23 years. A 4-day dietary record, anthropometric measurements, and interviews with the parents were obtained. The children had energy intakes below or in the lower range of the reference values given in the Recommended Dietary Allowances (RDAs). Intakes of vitamins and minerals were acceptable when supplements were taken into account. Despite low physical activity, all pupils were thin. The interviews with the parents revealed early and serious feeding problems that arose at weaning. At the same time, growth retardation was registered for a majority of the pupils. All pupils were described as strikingly thin while growing up. We conclude that the early feeding problems were so pronounced that malnutrition may be considered a contributing factor to the growth retardation.
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Retinitis pigmentosa (RP) and congenital deafness comprise the autosomal recessive Usher syndrome. The four affected siblings discussed here have audiometric curves characteristic of the 10% of patients with the syndrome who are not profoundly deaf. The oldest already has RP. Even though the younger three siblings have no visual symptoms, they do have auditory signs of the syndrome; they almost certainly will develop RP and become deaf-blind adults. Electroretinography indicates that the second oldest boy has early evidence of rod dysfunction. Special audiometric tests and electronystagmographic results support previous reports of a peripheral rather than central auditory lesion. The heterozygote parents show unilateral high-frequency hearing losses with normal retinal and vestibular function.