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At least 721 records · Page 40Linked to original sources
PubMed1997

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.

Angelman syndrome (AS) is a complex neurological disorder with different genetic aetiologies. It is not known whether the clinical features vary depending on the genetic mechanism. We report four patients with AS owing to uniparental disomy (UPD). There were two males and two females, with a mean age of 8 years (range 7 to 11 years). All patients had a happy disposition, hyperactive behaviour, and the characteristic facial phenotype of AS, but in three there was a normal head circumference, two had epilepsy, ataxic movements were mild in three, the mean age of onset of walking was 2.4 years, and there was some sign language in all four patients. Our cases add further weight to the previously reported impressions of a milder phenotype in cases of AS resulting from UPD than in deleted AS patients. Patients suspected of having AS, but who are considered atypical, warrant DNA testing.

Abnormalities, Multiple↗
PubMed2003

Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan.

For autosomal recessive nonsyndromic hearing impairment over 30 loci have been mapped and 19 genes have been identified. DFNB38, a novel locus for autosomal recessive nonsyndromic hearing impairment, was localized in a consanguineous Pakistani kindred to 6q26-q27. The affected family members present with profound prelingual sensorineural hearing impairment and use sign language for communications. Linkage was established to microsatellite markers located on chromosome 6q26-q27 (Multipoint lod score 3.6). The genetic region for DFNB38 spans 10.1 cM according to the Marshfield genetic map and is bounded by markers D6S980 and D6S1719. This genetic region corresponds to 3.4 MB on the sequence-based physical map.

Chromosome Mapping↗
PubMed1998

Cultural and linguistic barriers to mental health service access: the deaf consumer's perspective.

OBJECTIVE: The authors investigated knowledge, attitudes, and beliefs about mental illness and providers held by a group of deaf adults. METHOD: The American Sign Language interviews of 54 deaf adults were analyzed. RESULTS: Recurrent themes included mistrust of providers, communication difficulty as a primary cause of mental health problems, profound concern with communication in therapy, and widespread ignorance about how to obtain services. CONCLUSIONS: Deaf consumers' views need due consideration in service delivery planning. Outreach regarding existing programs is essential.

Adult↗
PubMed1992

The role of the fifth digit in music: discussion paper.

The increasing digital skill made manifest in the development of instrumental music is reviewed and supports the hypothesis that the fifth digit was belatedly used even when a suitable instrument had already become established. With notable exceptions, such as the harp, it appears that progressive improvements in instrument design was influenced by the need to utilize the fifth digits. Its greater use was accomplished in overlapping stages of increasing dexterity, of which the highest is exemplified by the left hand of the violinist. The apparent evolutional background of these observations is discussed. It is proposed that man has an inherent atavistic tendency to ignore the fifth digit and this view agrees with its neglect in gesture and sign language.

Fingers↗
PubMed2001

Neurologic course of congenital disorders of glycosylation.

Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and neuropathy. The metabolic defect is in N-linked oligosaccharide synthesis, and diagnosis is made by a serum transferrin isoelectric focusing. We reviewed the neurologic course of 10 children with congenital disorders of glycosylation (ages 13 months to 7 years). All had severe developmental delay and ataxia; none walked unassisted, and the highest level of communication was simple sign language in one patient. Five of 10 children had seizures (absence, complex partial, tonic clonic). Only one patient has had strokelike episodes, despite reports that they are common in this population. The underlying basis of these episodes has been hypothesized to be coagulopathy due to dysfunctional, incorrectly glycosylated coagulation factors. This 5-year-old patient with congenital disorders of glycosylation type Ia had two strokelike episodes, with evolving hemiparesis over 5 to 6 days' duration, followed by focal tonic-clonic seizures. Coagulation studies were normal. Electroencephalography showed transient hemispheric polymorphous delta-range slowing and suppression. Magnetic resonance imaging revealed corresponding cortical swelling. Magnetic resonance angiography was normal. Magnetic resonance spectroscopy revealed a decrease in the N-acetylaspartate peak, suggesting neuronal loss, with normal lactate peak. The neuroradiologic data do not support a thrombotic, embolic, or hemorrhagic basis for strokelike episodes in carbohydrate-deficient glycoprotein syndrome; other mechanisms must be considered.

Aspartic Acid↗
PubMed1999

Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen.

We report a case of dystonia with a partial deletion of the short arm (p) of chromosome 18 and androgen insensitivity. Neurologic findings in the 18p syndrome are reported to include mental retardation, seizures, incoordination, tremor, and chorea. A 15-year-old girl with a denovo 18p deletion [karyotype 46, XY, del (18)(p11.1)] developed progressive asymmetric dystonia. She had oromotor apraxia and partial expressive aphasia since childhood, and she was able to partially communicate through elementary sign language. At the age of 15 years, she developed subacute and progressive choreic movements of the right arm, severe dystonic posturing of the left arm, and spastic dystonia in both legs. Her response to parenteral or oral benzodiazepines, oral trihexyphenidyl, benztropine mesylate, baclofen, and L-dopa were brief and inadequate. The response to intrathecal baclofen has been sustained over 18 months. In all likelihood, the 18p deletion syndrome affecting this patient is significant in the pathogenesis of her acquired dystonia. Chronic intrathecal baclofen therapy via pump has been effective in this case and should be considered as a treatment modality in carefully selected patients with dystonia.

Adolescent↗
PubMed1995

Mutism and cerebellar dysarthria after brain stem surgery: case report.

Transient mutism resolving to cerebellar speech after posterior fossa surgery is a well-recognized phenomenon, particularly in pediatric patients. The anatomic basis for this postoperative functional change is unclear but may reside in the dominant superior cerebellar hemisphere or the medial deep cerebellar nuclei. We report a case of an 8-year-old girl who presented for surgical resection of a cavernous malformation of the right pons (at the level of the middle cerebellar peduncle) after hemorrhage. Preoperatively, her complaints consisted of contralateral motor deficits. She had normal speech. Her lesion was resected through a subtemporal approach to the pons. She awoke unable to speak. She was able to communicate through a variety of verbal cues, including sign language. Her mutism lasted 12 days after which she underwent a prolonged period of slowly resolving cerebellar dysarthria. Her preoperative motor deficits also slowly resolved. This is the first reported case of mutism resolving to cerebellar dysarthria after a supratentorial approach to the brain stem. We discuss the anatomic basis for postoperative mutism in light of previous observations combined with the unusual finding of mutism after pontine surgery. In particular, reports of mutism after bilateral cerebellar hemispheric injury, bilateral or unilateral medial deep nuclear injury, and, now, pontine tegmental injury implicate the superior cerebellar hemispheres, the deep cerebellar nuclei, and the nuclear outflow through the superior cerebellar peduncle as the anatomic bases for cerebellar participation in the production of human speech.

Brain Neoplasms↗
PubMed1997

"I want to talk like everyone": on the use of multiple means of communication.

This qualitative case study is a description of a young man with autism who communicated using speech, sign language, facilitated communication, body language, and his mother's conversational supports. Participant observation, interviews, and review of records were used to explore his current and past communication practices. These practices illustrate his preference for speaking and the complexity of choosing among communication means on an ongoing basis. Although the young man and his mother differed in their thinking about communication, they revealed a common goal: for Michael to participate in ordinary life activities as a member with a voice.

Adult↗
PubMed2003

The role of cued speech in the development of Spanish prepositions.

The aim of the present study was to advance the knowledge of the linguistic development of students with prelingual profound deafness, especially the acquisition and use of prepositions in Spanish, a lexical category with an important role in the verbal comprehension. The researchers sought to learn the level of mastery students with prelingual profound deafness can achieve in the command of prepositions, depending on the system of communication they have been exposed to: classic oralism, Cued Speech, or signed language. The results show that the different systems of communication contribute, to different degrees, to the acquisition of Spanish prepositions, with the best results being obtained with Cued Speech.

Adolescent↗
PubMedDate not supplied

Reading comprehension and its relation to the quality of functional hearing: evidence from readers with different functional hearing abilities.

Three groups of students--19 hard of hearing, 20 deaf, and a control group of 36 typically developing hearing readers--were compared on their ability to process written words at the lexical level and on their comprehension of words within the structure of a sentence. Findings generally suggested that severe prelingual hearing loss does not prevent the development of word processing strategies adequate for efficient processing of written words at the lexical level, although such hearing loss seems to put individuals at risk of failure in internalizing syntactic knowledge crucial for proper processing of words at the sentence level. Evidence further indicated that neither the amount of functional hearing (deaf vs. hard of hearing), the hearing status of their parents (hearing impaired vs. hearing), nor the use of sign language as a primary communication mode was a direct cause in this regard.

Audiometry, Pure-Tone↗
PubMedDate not supplied

Obstacles faced by deaf people in the criminal justice system.

Deaf people, especially those who are not well educated, are at risk for serious injustices when they enter the criminal justice system. The present study describes these risks at all stages of the legal process, including arrest, trial, probation, prison, and parole. These dangers are greatest for those who are poorly educated, read at a fourth-grade level or lower, have poor communication skills (American Sign Language and English), and lack awareness of their legal rights. Primitive personality disorder (PPD) is the term mental health professionals use to describe this set of characteristics. The risks that the segment of the deaf population with PPD faces when its members run afoul of the law are described, a case history provided, and some relevant legal and interpreting issues are discussed. A case is made for applying the concept of linguistic incompetence to deaf individuals with PPD.

Adult↗
PubMed1998

Assessing substance abuse problems in deaf and hard of hearing individuals.

Professionals who provide services to deaf and hard of hearing individuals may encounter situations related to abuse of alcohol and other drugs. Getting access to an agency that can provide an appropriate chemical dependency assessment for a deaf or hard of hearing person is difficult because there are no formalized assessment tools normed or specifically designed to use with such individuals. Additionally, most assessors are unfamiliar with how to work with deaf and hard of hearing people, less likely to be fluent in American Sign Language, and unaware of appropriate treatment options. The present article provides an overview of chemical dependency, assessment issues, and considerations unique to the deaf and hard of hearing population. A chemical dependency assessment tool developed by the Minnesota Chemical Dependency Program for Deaf and Hard of Hearing Individuals is described, as well as a case study that illustrates application of the assessment process.

Adult↗
PubMed1998

Problem-solving strategies for teaching mathematics to deaf students.

Three teaching and learning strategies for problem solving were implemented with first- and second-year deaf college students enrolled in mathematics courses at the National Technical Institute for the Deaf (NTID), Rochester Institute of Technology. These strategies involved the students in (a) giving an explanation to a peer observer in sign language, after which they would put their understanding of a problem and its solution in writing; (b) visualizing the problem-solving process prior to starting to solve a problem; and (c) observing their teacher modeling the analytical process step by step for a sample problem prior to solving math word problems. The students were asked to solve two types of problems: typical word problems, and a visual/manipulative puzzle that would provide a problem-solving experience that would contrast with the experience of solving a problem presented in text format. The results showed that these kinds of instructional strategies can enhance the problem-solving performance of deaf and hard of hearing college students.

Adult↗
PubMed2001

Developments in cognitive socialization: implications for deaf education.

Over the past 2 to 3 decades, the cognitive socialization literature has advanced about 40 major issues that could have a major impact on the principles and procedures of deaf education. The article presents a conceptual model of the cognitive social bases of language that is derived from the philosophical view of constructionism and theoretical perspectives of speech act theory and relevance theory. With the cognitive socialization perspective and this conceptual model, 4 of the 40 issues are discussed: (a) the centrality of intent replacing reinforcement as a more viable account of language acquisition, (b) modality and core issues of language, (c) lack of construct validity in assessment, and (d) heterogeneity. Implications for the advancement of deaf education are discussed throughout.

Cognition↗
PubMed1999

Historical overview of inpatient care of mental patients who are deaf.

A review of published studies of deaf mentally ill inpatients is reported. While there are conflicts in the findings of some of the studies, several generalizations seem fairly universal across countries and time periods. For example, the data indicate a greater overall prevalence of mental illness in the deaf population than in the general population as a whole, based on the relative number of each group who are patients in psychiatric hospitals. In general, deaf patients have longer hospital stays. Characteristics symptoms leading to hospitalization of deaf people tend to be different from those of hearing patients. It was thought by most investigators that restriction of sign language use in schools was one reason for these differences. For both hearing and deaf inpatients, dual diagnosis (mental illness and substance abuse) is far more common today than in years past. All investigators found frequent misdiagnoses among deaf patients. The paucity of research on deaf inpatients over the last 2 decades is noted.

Deafness↗
PubMed2001

Successful students who are deaf in general education settings.

The study identified successful students who were deaf and were receiving most of their educational services in general education settings, in order to examine factors contributing to their success. Teachers in a western state were asked to nominate students who were deaf who were in the upper elementary through high school grades and were receiving most of their educational services in general education classrooms. Qualitative procedures were used to gather information on 20 successful students who were deaf. Inquiry focused on observation of the students in general education settings and interviews to gather perceptions of (a) the successful students themselves, (b) deaf education teachers, educational interpreters, and paraprofessional note takers serving these students, (c) general education teachers working with these students, and (d) parents. The students' primary communication modes were closely divided between sign language and spoken English; communication mode did not seem to be a salient factor in success. Results of the interviews with each group, a summary of observations, and themes that emerged across groups are provided.

Adult↗
PubMed2002

Another look at the STM capacity of prelingually deafened individuals and its relation to reading comprehension.

The study investigated the short-term recall of serially presented verbal(izable) information by prelingually deafened individuals and hearing individuals, and reconsidered how short-term memory (STM) is linked with their reading skills and their memory coding strategies. A computer-controlled paradigm calling for written ordered recall of 12 lists of 8 consecutively displayed Hebrew nouns was used to assess STM capacity. Forty-nine students with prelingual deafness (mean grade 6.9) and 39 hearing students (mean grade 6.5) participated in the experiment. Twenty-seven of the participants with deafness were raised according to an oral philosophy. The remaining 22 participants from the deaf group used sign language as their preferred communication code. In general, the findings suggest that neither discrepancy in the ordered short-term recall of verbal materials nor discrepancies in reading comprehension are directly assignable to differences in the memory coding strategies of prelingually deafened and hearing individuals. If such functional discrepancies develop, they reflect absent or insufficiently internalized knowledge.

Child, Preschool↗
PubMed2000

Deaf teacher candidates in hearing classrooms: a unique teacher preparation program.

An undergraduate teacher education program at Gallaudet University prepares deaf students in "regular" education. This includes a required full-time internship with hearing students (assisted by sign language interpreters). Graduates then continue in a master's degree program in deaf education, thus acquiring dual certification. Several studies indicate that these deaf candidates progress through the same developmental stages as hearing candidates and that they develop high expectations for deaf learners. Issues related to implementing such a program are discussed.

Deafness↗