Unilateral Coats’-like disease and an intragenic deletion in the TERC gene: A case report

The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia. They were found to have a homozygous intragenic deletion within the Glutamate receptor, ionotropic, delta 2 gene at exon 2. Our patients serve as an addition to the literature of previously reported children with this rare clinical syndrome associated with Glutamate receptor, ionotropic, delta 2 deletion.

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Paternally Inherited GABRB3 Intragenic Deletion in a Boy with Autistic Features and Angelman Syndrome Phenotype–Case Report and Literature Review

Autism - Open Access ◽

10.4172/2165-7890.1000182 ◽

2016 ◽

Vol 6 (3) ◽

Author(s):

Krzysztof SzczaA‚uba ◽

Ilona Jaszczuk

Keyword(s):

Case Report ◽

Literature Review ◽

Angelman Syndrome ◽

Intragenic Deletion

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Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report

Cytogenetic and Genome Research ◽

10.1159/000518689 ◽

2021 ◽

pp. 1-4

Author(s):

Minh-Tuan Huynh ◽

Cong Toai Tran ◽

Madeleine Joubert ◽

Claire Bénéteau

Keyword(s):

Case Report ◽

Intellectual Disability ◽

Developmental Delay ◽

Clinical Features ◽

Behavioral Problems ◽

Gene Deletion ◽

De Novo ◽

Underlying Disease ◽

Disease Mechanism ◽

Intragenic Deletion

Submicroscopic 10p15.3 microdeletions were previously reported to be associated with developmental delay, and the smallest region of overlap of 10p15.3 deletion including DIP2C and ZMYND11 was defined. Moreover, pathogenic ZMYND11 truncating variants were subsequently identified in a cohort of patients with developmental delay. Of interest, patients harboring 10p15.3 microdeletions or pathogenic ZMYND11 truncating variants share similar clinical features including hypotonia, intellectual disability, facial dysmorphisms, speech and motor delays, seizures, and significant behavioral problems. Only 1 patient with whole ZMYND11 gene deletion was recorded, and no intragenic ZMYND11 deletion was reported up to date. Here, we describe a 7-year-old boy with developmental delay, carrying the smallest de novo 10p15.3 microdeletion, harboring the 5′UTR and the first 2 exons of ZMYND11. Taken together, our report contributes to expand the clinical and mutational spectrum of ZMYND11 and confirms haploinsufficiency as the underlying disease mechanism.

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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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