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A left parietal infarct in a prelingually deaf person resulted in an aphasia for both American Sign Language (ASL) and written and finger-spelled English. Originally the patient had a nearly global aphasia affecting all language systems. By five to seven weeks post-onset her symptoms resembled those of hearing aphasics with posterior lesions: fluent but paraphasic signing, anomia, impaired comprehension and repetition, alexia, and agraphia with elements of neologistic jargon. In addition, there was a pronounced sequential movement copying disorder, reduced short-term verbal memory and acalculia. In general, the patient's sign errors showed a consistent disruption in the structure of ASL signs which parallels the speech errors of oral aphasic patients. We conclude that most aphasic symptoms are not modality-dependent, but rather reflect a disruption of linguistic processes common to all human languages. This case confirms the importance of the left hemisphere in the processing of sign language. Furthermore, the results indicate that the left supramarginal and angular gyri are necessary substrates for the comprehension of visual/gestural languages.

A family is presented in which there is a high incidence of hypertrophic cardiomyopathy and congenital deaf-mutism. The two abnormalities occurred together in 2 cases, and the syndrome was strongly suspected in a third individual. Hypertrophic cardiomyopathy without deaf-mutism was observed in a further 2 cases. Hypertrophic cardiomyopathy is inherited by an autosomal dominant mode; that occurring together with deaf-mutism is also probably inherited dominantly.

A three-level prereading model based on deaf children's early attempts at learning about prereading is proposed based on a 9-month longitudinal study. This model contends that reading can be initiated by giving deaf children opportunities to match their internalized manual language to printed words. The recommended procedures stress the use of joint reading-related activities involving parents, teachers, and peers. The classroom experiments and parental interviews provide evidence to support this prereading model. A developmental sequence is defined for deaf children based on the students' emergent prereading behaviors. Suggestions are also made for teachers and parents interested in promoting prereading in young deaf children. 'his study traces the development of prereading knowledge and investigates the impact of a meaning-based prereading intervention program on kindergarten and first-grade deaf children over a full school year. Prelingual deafness is a sensory impairment which adversely affects children's language and reading development (Quigley & Kretschmer, 1982; Quigley & Paul, 1984). In fact, deaf children seldom progress beyond the fourth-grade reading level even after years of schooling (Trybus & Buchanan, 1971). While deaf educators know these facts, no longitudinal data exist on what specific letter, word, and story knowledge abilities the young deaf child brings to the beginning reading process. Reading achievement may be thwarted from the start because deaf children fail to acquire fundamental prereading concepts about printed letters, words, and stories at the preschool level upon which later mature skills can be built. Such longitudinal data could be used to answer the question: How do deaf children acquire knowledge about prereading?

Paranoia has long been associated with deafness, but the most significant psychiatric questions in the field of deafness concern the effects of prelingual deafness on intelligence, personality, and control of aggressive drives. With intensive language training, an emotionally favorable family situation, and adequate education, prelingual deafness has little or no deleterious effect on intelligence or personality. It does not predispose to major psychotic illnesses, but probably affects character structure in such a way as to accentuate impulsivity, and weaken depressive and obsessional traits. In order to prevent psychiatric morbidity in the deaf, the primary care physician needs not only to be able to diagnose and treat deafness and its causes, but also to grasp the importance of family counseling, adequate communication and education, and vocational rehabilitation for the deaf.

In all of our cases, phonetic discrimination has been obtained without the help of lip-reading. Speech intelligibility is generally better in postlingual deafness that in prelingual deafness. We believe this method, despite the size of the external transmitter, is best for rehabilitation of totally deaf patients.

There appears to be an absolute reduction in the occurrence of congenital and prelingual deafness. Our institute records show a declining number of such children beginning about the end of 1967 and continuing to the present. We have applied a sequential analysis of etiologies in 117 children, by year, from 1961 to 1969 inclusive. The cyclic increase and decrease in German measles related to the recent epidemic confirms previous reports but there is also definite reduction in kernicterus, prematurity, and other causes. Other factors probably include improved prenatal, natal, neonatal care; decreased birth rate; and increased use of preventive abortion. Widespread vaccination for measles, mumps, and now also rubella, and prompt administration of Rh globulins could permanently reduce congenital and prelingual deafness. New causes may appear, however. Annual registration of all congenital and prelingual deafness is recommended.

O objetivo deste trabalho foi medir curvas de sensibilidade ao contraste de 10 crianças ouvintes e de 10 crianças com surdez pré-lingual, de 7 a 12 anos, utilizando frequências radiais circularmente concêntricas (FSCr) de 0,25-2,0 cpg em níveis baixos de luminância (0,7 cd/m²). Todos os participantes apresentavam acuidade visual normal e estavam livres de doenças oculares identificáveis. A FSCr foi medida com o método psicofísico da escolha forçada. Os resultados mostraram sensibilidade máxima na faixa de frequência radial de 0,25 cpg para os dois grupos. Os resultados mostraram ainda diferenças significantes entre as curvas de FSCr de crianças ouvintes e de crianças com surdez pré-lingual. Isto é, as crianças ouvintes precisaram de menos contraste do que as crianças surdas para detectar as frequências radiais. Esses resultados sugerem que, em níveis baixos de luminância, a FSCr das crianças ouvintes foi melhor do que a das crianças com surdez pré-lingual. The aim of this work was to measure contrast sensitivity curves in 10 hearing children and 10 children with prelingual deafness (from 7 to 12 years old), using concentric circular patterns with radial frequencies (rCSF) of 0.25-2.0 cpd at low levels of luminance (0.7 cd/m²). All participants were free from identifiable ocular disease and had normal visual acuity. The rCSF was measured with the psychophysical forced-choice method. The results showed maximum sensitivity in the frequency range of 0.25 cpd for the two groups. The results showed yet significant differences between the rCSF of deaf and hearing children. That is, hearing children needed less contrast than deaf children to detect radial frequencies. These results suggest that at low levels of luminance the rCSF of hearing children was better than the rCSF of children with prelingual deafness.

The aim of the studyTo study the effect of intensive auditory training using the modified version of the Arabic rehabilitation program for adults on both the auditory skills and the degree of speech intelligibility.Materials and methodsThe study was conducted on 30 patients who were divided into two groups according to intensiveness of the auditory training. Each group included 15 patients (10 males and 5 females). Both groups received the usual therapy program provided for cochlear implanted patients. Group (I) received an additional therapy other than the usual form. Minimal Auditory Capabilities Test (MAC Test) was used to assess auditory perception abilities and Speech Intelligibility Rating Scale (SIR) was used to assess speech production skills before implantation and at 3, 6, 12, 18months post-operatively.ResultsA significant difference was found when comparing the two groups in spondee discrimination during the post-operative assessment periods, of 3, 6, 12, and 18months with P value

Genetic factors play a major role in the etiology of nearly one-half of all cases of profound prelingual deafness, with more than 100 distinct genetic forms of hearing loss now recognized. It is important for the deaf community and professionals working with the deaf to be aware of basic genetic concepts and the numerous steps involved in the genetic diagnostic and counseling process. An understanding of the genetic concepts applicable to individual cases, as well as an appreciation of the complex nature of determination of recurrence risks in families, will facilitate the referral of individuals and families for genetic evaluation and counseling. The importance of genetics in the treatment and prevention of many disorders is being recognized in all fields of medicine. Awareness is also increasing among the general public, and many patients and parents at risk for genetic disorders are seeking counseling to obtain infor- mation and understanding about chances for recurrence in their families. With genetic coun- seling now readily available throughout the country, it is important for the public and professionals to gain information about genetics and the diagnostic and counseling process (Sweeney, 1978). There may be no group that could profit more from genetic counseling than deaf persons or their parents (Nance, 1971). Genetic factors account for approximately one- half of all cases of profound hearing loss, and as medical advances reduce the risks for envi- ronmental causes of hearing impairment, genetic factors will become increasingly important in the etiology of deafness (Nance & Sweeney, 1975). Every basic concept of human genetics is exemplified in the study of deafness. Deafness is heterogeneous, having many genetic and environmental causes (Bieber & Nance, 1979, pp. 443-461; Fraser, 1976; Konigsmark & Gorlin, 1976). More than 100 distinct genetic forms of hearing loss have been described including iso- lated hearing impairment as well as syndromes involving deafness associated with other phys

IN VIEW of the importance generally attributed to language in psychological development and function, the importance ascribed to communication difficulties in the genesis and maintenance of psychiatric Pathology, and the central role of communication, particularly verbal communication, in psychotherapy, the study of communication, language, and verbal behavior is of utmost significance, both to the academic scientist and to the clinician. Scanning the table of contents of almost any recent psychiatric journal discloses the interest and attention being given to language, communication, semantics, etc, in the etiology, pathogenesis, and treatment of psychiatric disturbance; eg: "Word Meaning in Parents of Schizophrenics,"1"Competing Voice Messages,"2"Language, Consciousness, and Experience,"3"Communicative Unclarity: Some Comments on the Rhetoric of Confusion."4To be sure, the nonverbal aspects of communication are still recognized, but even here there is often a linguistic tie-in: "Teaching the Perception

enetic factors are thought to account for approximately one half of cases of childhood hearing loss, the majority of which is non-syndromic and not associated with other abnormalities. Seventy-seven percent of hereditary, non-syndromic, prelingual deafness is autosomal recessive, 22% is autosomal dominant, and 1% is transmitted as a matrilineal or X linked trait. 1 So far, more than 30 distinct genetic loci (known as DFNB loci) have been mapped for nonsyndromic recessive deafness (NSRD). In the absence of syndromic associations to guide genetic diagnosis, the auditory and vestibular features provide the only phenotypic clues to direct molecular diagnostic testing. Unfortunately, the phenotype of NSRD is usually non-specific; prelingual, nonprogressive, and severe-profound impairment is associated with mutations in a majority of DFNB loci. 2 In contrast,inherited dominant hearing loss is more phenotypically heterogeneous; it is usually postlingual, progressive, and can be associated with a variety of different audiometric configurations.

Genetic hearing loss accounts for up to 50% of prelingual deafness worldwide, yet there are no biologic treatments currently available. To investigate gene therapy as a potential biologic strategy for restoration of auditory function in patients with genetic hearing loss, we tested a gene augmentation approach in mouse models of genetic deafness. We focused on DFNB7/11 and DFNA36, which are autosomal recessive and dominant deafnesses, respectively, caused by mutations in transmembrane channel-like 1 (TMC1). Mice that carry targeted deletion of Tmc1 or a dominant Tmc1 point mutation, known as Beethoven, are good models for human DFNB7/11 and DFNA36. We screened several adenoassociated viral (AAV) serotypes and promoters and identified AAV2/1 and the chicken beta-actin (Cba) promoter as an efficient combination for driving the expression of exogenous Tmc1 in inner hair cells in vivo. Exogenous Tmc1 or its closely related ortholog, Tmc2, were capable of restoring sensory transduction, auditory brainstem responses, and acoustic startle reflexes in otherwise deaf mice, suggesting that gene augmentation with Tmc1 or Tmc2 is well suited for further development as a strategy for restoration of auditory function in deaf patients who carry TMC1 mutations.

Lipreading proficiency was investigated in a group of hearing-impaired people, all of them knowing Spanish Sign Language (SSL). The aim of this study was to establish the relationships between lipreading and some other variables (gender, intelligence, audiological variables, participants’ education, parents’ education, communication practices, intelligibility, use of SSL). The 32 participants were between 14 and 47 years of age. They all had sensorineural hearing losses (from severe to profound). The lipreading procedures comprised identification of words in isolation. The words selected for presentation in isolation were spoken by the same talker. Identification of words required participants to select their responses from set of four pictures appropriately labelled. Lipreading was significantly correlated with intelligence and intelligibility. Multiple regression analyses were used to obtain a prediction equation for the lipreading measures. As a result of this procedure, it is concluded that proficient deaf lipreaders are more intelligent and their oral speech was more comprehensible for others. Se estudió el dominio de la labiolectura en personas sordas usuarias de la lengua de signos española. El objetivo era establecer las relaciones entre la lectura labiofacial y otras variables (género, inteligencia, variables audiológicas, nivel educativo del sujeto y de los padres, prácticas comunicativas, inteligibilidad de su habla y uso de la lengua de signos española). Los 32 sujetos de la muestra tenían edades comprendidas entre los 14 y los 47 años. Todos tenían pérdidas auditivas neurosensoriales (de severas a profundas). El procedimiento para evaluar la lectura labiofacial se basaba en la identificación de palabras aisladas. Estas palabras fueron emitidas siempre por el mismo evaluador. La identificación de las palabras se hacía a través de la selección entre cuatro alternativas. La lectura labiofacial correlacionó de manera significativa con la inteligencia y la inteligibilidad del habla. Se empleó un análisis de regresión múltiple para obtener una ecuación que permitiera predecir las puntuaciones en lectura labiofacial. Como resultado de este procedimiento se observó que los mejores labiolectores sordos fueron aquellos que eran más inteligentes y tenían un habla más inteligible.

The OTOF gene encodes otoferlin, a critical protein at the synapse of auditory sensory cells, the inner hair cells (IHCs). In the absence of otoferlin, signal transmission of IHCs fails due to impaired release of synaptic vesicles at the IHC synapse. Biallelic pathogenic and likely pathogenic variants in OTOF predominantly cause autosomal recessive profound prelingual deafness, DFNB9. Due to the isolated defect of synaptic transmission and initially preserved otoacoustic emissions (OAEs), the clinical characteristics have been termed “auditory synaptopathy”. We review the broad phenotypic spectrum reported in patients with variants in OTOF that includes milder hearing loss, as well as progressive and temperature-sensitive hearing loss. We highlight several challenges that must be addressed for rapid clinical and genetic diagnosis. Importantly, we call for changes in newborn hearing screening protocols, since OAE tests fail to diagnose deafness in this case. Continued research appears to be needed to complete otoferlin isoform expression characterization to enhance genetic diagnostics. This timely review is meant to sensitize the field to clinical characteristics of DFNB9 and current limitations in preparation for clinical trials for OTOF gene therapies that are projected to start in 2021.

OBJECTIVE A growing number of studies on deaf children with cochlear implant (CI) document a significant improvement in receptive and expressive language skills after implantation, even if they show language delay when compared with normal-hearing peers. Data on language acquisition in CI Italian children are still scarce and limited to only certain aspects of language. The purpose of this study is to prospectively describe the trajectories of language development in early CI Italian children, with particular attention to the transition from first words to combinatorial speech and to acquisition of complex grammar in a language with rich morphology, such as Italian. DESIGN Six children, with profound prelingual deafness, provided with CI, between 16 and 24 months of age were prospectively assessed and followed over a mean period of up to 34.8 months postimplant. During follow-up, each child received between four to five individual language evaluations through a combination of indirect procedures (parent reports of early lexical and grammar development) and direct ones (administration of standardized receptive and expressive language tests with Italian norms and collection of spontaneous language samples). RESULTS In relation to chronological age, the acquisition of expressive vocabulary was delayed. However, considering the duration of hearing experience, most CI participants showed an earlier start and faster growth of expressive rather than receptive vocabulary in comparison with typically developing children. This quite atypical result persisted right up until the end of the follow-up. The acquisition of expressive grammar was delayed relative to chronological age, though all but one CI participant achieved the expected grammar level after approximately 3 years of CI use. In addition, the rate of grammar acquisition was not homogeneous during development, showing two different paces: one comparable with normal hearing in the transition from holophrastic to primitive combinatorial speech and a much slower one to attain more advanced levels of morphosyntactic control. CONCLUSION From a rehabilitative viewpoint, our results suggest the importance of implementing rehabilitation in lexical comprehension, even when expressive vocabulary appears to be within normal range. Moreover, assessment of language acquisition in CI Italian children should focus on those grammar aspects that are more vulnerable to early acoustic deprivation (such as free and bound morphology) to ensure enhanced language therapy planning.

Expressive language skills were assessed in two groups of prelingually-deafened children using the Reynell Developmental Language Scales (RDLS). Results from a group of 89 unimplanted subjects provided cross-sectional data which suggested that profoundly deaf children without implants, on average, could only be expected to make 5 months of expressive language growth in one year. Twenty-three children who received cochlear implants made up the second group of subjects and were administered the RDLS at three intervals: preimplant, 6-, and 12-months postimplant. The scores obtained at the post-implant intervals were then compared to scores that would be predicted on the basis of maturation alone, without the implant (these predictions were formulated based on the data obtained from the unimplanted subjects). At the 12-month postimplant interval, the observed mean language score was significantly higher than the predicted score. Although the mean group data were extremely encouraging, wide inter- subject variability was observed. Although the implant subjects, as a group, were substantially delayed compared with their normal hearing peers, their rate of language growth was found to match that of hearing peers, following implantation. Thus, the gap between chronological age and language age, which normally widens over time in deaf children, remained constant. Preliminary analyses over the first 2.5 years post-implant are consistent with this trend. These results suggest that early implantation (before age 3) might be beneficial to profoundly deaf children because the language delays at the time of implantation would be much smaller.