Syndromes, communicative disorders, and black children.

Birth defects increase the risk of speech, language, and hearing disorders in childhood. The prevalence of particular congenital anomalies varies from one racial and ethnic group to another. Some conditions such as the hemoglobinopathies, polydactyly, and external ear malformations are more common among black people. Other birth defects are rarer among black children, notably cleft lip and palate, neural tube defects, and phenylketonuria. The more common defects of Down's syndrome, neurofibromatosis, and cerebral palsy appear to occur in equal frequency in black and white Americans.Speech-language pathologists, audiologists, and other health professionals who work with black children with birth defects must be familiar with the special problems and the positive features reflected in this population. Difficulties in obtaining adequate medical care, poor health and nutrition, and inadequate financial support are problems plaguing the poor. However, the shared responsibility assumed by the church, the community, and the extended family often results in positive acceptance of the handicapped child. Many families rely on folk medicine whose remedies can often be combined with traditional therapies for the ultimate benefit of the patient.Health professionals must assume a managerial role to ensure that services reach the child with syndrome-related speech, language, and hearing problems.

Cultural considerations in the treatment of Latinos with craniofacial malformations.

Latinos are expected to form the largest ethnic minority in the United States by the year 2000. Although there is considerable diversity within this group, a number of similarities prevail. Folk theories of etiology and treatment, family loyalties, attitudes toward health professionals, and hospitals appear similar across Latino subgroups. Successful treatment requires the knowledge and appreciation of cultural attitudes.

Resiliency and success in adults with Moebius syndrome.

OBJECTIVE: This study asked selected mature individuals with Moebius syndrome to discuss the sources of strength and resiliency that allowed them to achieve professional and personal success. DESIGN: Adults with Moebius syndrome were selected in a nonrandom manner based primarily on their affiliation with the Moebius Syndrome Foundation. Following a letter from the author describing the objective, the subjects were interviewed by telephone and were encouraged to respond at length. PARTICIPANTS: Eighteen adults (aged 29 to 70 years) responded. All were or had been gainfully employed in a variety of professional or vocational positions. RESULTS: The respondents reported the following as major sources of resiliency and success: family support, faith, humor, sense of self, special skills, determination, and networking. CONCLUSIONS: The recognition and reinforcement of strengths and resiliences in younger patients may help maximize their professional and personal success as adults.

The effects of aging on communication.

Age can be estimated fairly accurately by listening to the voice and speech of the individual. The critical processes of communication--respiration, phonation, articulation, language, and hearing--are described in terms of the anticipated biological tissue changes of aging and the effect of these changes on the speaking process. With the exception of the common finding of hearing loss in old age, the processes of communication do not seem to be seriously affected by "normal" aging. Complicating factors and diagnostic and remedial implications are discussed.

The effect of syndrome diagnosis on speech remediation.

On the basis of work reported by colleagues, as well as our own clinical research studies of patients with the aforementioned syndromes, there are now some useful guidelines for appropriate remediation based on accurate initial diagnosis. Still, there is more to be learned about each of these syndromes. Furthermore, they represent but a small sample of a very large total. Recent literature has described the speech patterns of many more syndromes, as well as the genetic aspects of the more common speech and language disorders such as language delay, dyslexia, autism, and stuttering [72-78]. The most common recognizable birth defect is Down syndrome and there is, fortunately, a large body of information detailing the varied language, speech, and hearing aspects [79]. Those of us who work with children with Down syndrome have been alerted to the anticipated receptive and expressive language delays; the conductive and sometimes mixed hearing losses; the hoarse and raucous voices that are probably the result of a combination of anatomic, neurologic, and mucosal variations; the interesting disfluencies, and the amalgam of developmental and deviant articulatory errors. We know that although the tongue protrudes, it is rarely the true macroglossia which we would find in Beckwith syndrome, for example, but rather a hypotonic posture and a logical adaptation to an airway restricted by enlarged tonsils and adenoids and recurrent rhinitis.

Nager syndrome: an update of speech and hearing characteristics.

Nager acrofacial dysostosis is a rare syndrome of unknown etiology combining mandibular and thumb/radial hypoplasia. Seven patients evaluated in this study had histories of early respiratory and feeding problems, micrognathia and absent velum, atretic ear canals and conductive hearing loss, upper and lower limb malformations, normal intelligence, and speech/language delays and disorders. These findings, with few exceptions, were consistent with the findings in previously published and unpublished case histories of patients with Nager syndrome. Recommended rehabilitative strategies include prespeech feeding activities (especially if gastrostomy tubes are present), oral language stimulation, individualized speech/language therapy, and early audiologic evaluation and amplification.

Speech, language and hearing in Moebius syndrome: a study of 22 patients.

A comprehensive profile of communicative disorders in patients with Moebius syndrome was attempted. Seven patients were evaluated by the authors and the findings were added to 15 contributed case-histories. Most patients demonstrated some degree of dysarthria due to congenital paralysis of the facial nerves. Other problems such as cleft palate, hearing loss, mental retardation and delayed development of language were found in a few of the patients. As most of the older children in the sample and in reports in the literature eventually developed intelligible speech, a program of oral language stimulation and compensatory articulatory adjustments would appear to be the procedure of choice.

Facioscapulohumeral muscular dystrophy and accompanying hearing loss.

Facioscapulohumeral (FSH) muscular dystrophy (MD) is an autosomal dominant condition marked by muscle weakness primarily in the face, shoulder girdle, and legs. Intelligence and life span are normal and the spectrum of disability is broad. Flaccid dysarthria results from the facial muscle paralysis. A pair of siblings had FSH MD that was accompanied by the unusual finding of sensorineural hearing loss. Speech and audiologic aspects are presented and etiologic explanations are suggested. Careful audiologic evaluation of all patients with FSH MD is advised so that sensorineural hearing loss can be ruled out.

Rehabilitation of a patient with complete mandibulectomy and partial glossectomy.

Following a number of radiologic and surgical procedures for the treatment of oral cancer, a patient with severe facial disfigurement and alteration of the vocal tract acquired acceptable speech. Consultation among referring physicians and speech pathologists can aid such a patient by facilitating the rehabilitative process through improvement of communicative skills.

Nager acrofacial dysostosis: early intervention and long-term planning.

Nager acrofacial dysostosis is an extremely rare syndrome combining craniofacial features similar to Treacher Collins mandibulofacial dysostosis with the additional features of thumb and radial bone hypoplasia. The clinical and prognostic aspects of two unrelated infants with Nager acrofacila dysostosis are presented. A vigorous early intervention program of habilitation is described with emphasis on the facilitation of speech and language development in children with multiple morphological and developmental problems.