VP32.17: Bilateral symmetric tetraphocomelia: antenatal clue to Roberts syndrome – a case report

Roberts syndrome is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb defi ciency, it is important to be identified in order to give accurate genetic counseling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 9 year old female child who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome. Nepal Journal of Neuroscience, Vol. 14, No. 2, 2017 Page: 39-42

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Genetically determined long bones deficiency – Roberts syndrome, a case report

Zeitschrift für Orthopädie und ihre Grenzgebiete ◽

10.1055/s-2003-821923 ◽

2003 ◽

Vol 141 (S 1) ◽

Author(s):

A Ignys ◽

I Ignys ◽

M Glowacki

Keyword(s):

Case Report ◽

Long Bones ◽

Roberts Syndrome ◽

Genetically Determined

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Misophonia: An Evidence-Based Case Report

American Journal of Audiology ◽

10.1044/2020_aja-19-00111 ◽

2020 ◽

Vol 29 (4) ◽

pp. 685-690

Author(s):

C. S. Vanaja ◽

Miriam Soni Abigail

Keyword(s):

Quality Of Life ◽

Case Report ◽

Case History ◽

Pure Tone ◽

Physiological Responses ◽

Evidence Based ◽

Management Option ◽

Pure Tone Audiogram

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.

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Intensive Stuttering Therapy With Telepractice Follow-up: A Case Study

Perspectives on Fluency and Fluency Disorders ◽

10.1044/ffd21.1.11 ◽

2011 ◽

Vol 21 (1) ◽

pp. 11-21 ◽

Cited By ~ 2

Author(s):

Farzan Irani ◽

Rodney Gabel

Keyword(s):

Case Report ◽

Therapeutic Intervention ◽

Intensive Therapy ◽

Positive Outcome ◽

Eclectic Approach

This case report describes the positive outcome of a therapeutic intervention that integrated an intensive, residential component with follow-up telepractice for a 21 year old male who stutters. This therapy utilized an eclectic approach to intensive therapy in conjunction with a 12-month follow-up via video telepractice. The results indicated that the client benefited from the program as demonstrated by a reduction in percent stuttered syllables, a reduction in stuttering severity, and a change in attitudes and feelings related to stuttering and speaking.

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A Tape-Recorded Therapy Method for Stutterers: A Case Report

Journal of Speech and Hearing Disorders ◽

10.1044/jshd.3502.188 ◽

1970 ◽

Vol 35 (2) ◽

pp. 188-193 ◽

Cited By ~ 4

Author(s):

Maryann Peins ◽

Bernard S. Lee ◽

W. Edward McGough

Keyword(s):

Case Report

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The Use of Real-Time Visual Displays of Speech in the Training of a Profoundly Deaf, Nonspeaking Child: A Case Report

Journal of Speech and Hearing Disorders ◽

10.1044/jshd.3603.397 ◽

1971 ◽

Vol 36 (3) ◽

pp. 397-409 ◽

Cited By ~ 10

Author(s):

Rachel E. Stark

Keyword(s):

Case Report ◽

Real Time ◽

Speech Production ◽

Behavior Problem ◽

Deaf Children ◽

Developmental Sequence ◽

Visual Displays ◽

Individual Instruction ◽

Academic Record ◽

Extract Information

Real-time amplitude contour and spectral displays were used in teaching speech production skills to a profoundly deaf, nonspeaking boy. This child had a visual attention problem, a behavior problem, and a poor academic record. In individual instruction, he was first taught to produce features of speech, for example, friction, nasal, and stop, which are present in vocalizations of 6- to 9-month-old infants, and then to combine these features in syllables and words. He made progress in speech, although sign language and finger spelling were taught at the same time. Speech production skills were retained after instruction was terminated. The results suggest that deaf children are able to extract information about the features of speech from visual displays, and that a developmental sequence should be followed as far as possible in teaching speech production skills to them.

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