18q Deletion syndrome: A neuropsychological case study

Neurocase ◽  
2009 ◽  
Vol 15 (2) ◽  
pp. 101-109 ◽  
Author(s):  
Deborah Arguedas ◽  
Jennifer Batchelor
Author(s):  
Nils Peters ◽  
Martin Dichgans ◽  
Sankar Surendran ◽  
Josep M. Argilés ◽  
Francisco J. López-Soriano ◽  
...  

2021 ◽  
Vol 58 (12) ◽  
pp. 1187-1188
Author(s):  
Maria Francesca Gicchino ◽  
Giulio Piluso ◽  
Teresa Giugliano ◽  
Mario Cirillo ◽  
Alma Nunzia Olivieri ◽  
...  

2000 ◽  
Vol 9 (3) ◽  
pp. 197-201
Author(s):  
Irit Spierer Greenberg ◽  
Robert C. Fifer

This manuscript presents a case study that underscores the need for increasing awareness that hypernasality, velopharyngeal insufficiency, and a number of other anomalies may be related through the common etiology of 22q11 deletion syndrome. The child presented here has a long-standing history of cardiac defects, hypernasality, poor speech intelligibility, and other anomalies. The variety of symptoms, occurring over a relatively broad time span, caused the family to seek several individual specialists on separate occasions. A major factor influencing this case was the absence of communication between the various specialists. Each health care specialist treated the child based on the limited perspective of the individual discipline, missing the fundamental etiology of the child’s disorders. It was not until the diagnosis of 22q11 deletion syndrome was established that successful, coordinated treatment of the disorder was realized.


2020 ◽  
pp. 174462952094237
Author(s):  
Petra CM Buijs ◽  
Anne S Bassett ◽  
David A Gold ◽  
Erik Boot

Background: The prevalence of anxiety disorders is high in 22q11.2 deletion syndrome (22q11.2DS), an under-recognized multisystem condition. Prominent features include an array of somatic, cognitive, and neuropsychiatric disorders. This case study reports for the first time on the application of individual cognitive behavioral therapy in 22q11.2DS. Method: Two young adults with 22q11.2DS and an anxiety disorder received cognitive behavioral therapy based on standard protocols. Feasibility and efficacy were assessed through clinical interviews, clinical observations by the therapist, and questionnaires. Results: Both participants were engaged in the therapy and showed understanding of basic cognitive behavioral therapy principles. However, they did not show a clear clinical improvement. Adjustments to the protocol were required, including increased flexibility and a proactive approach by the therapist, additional time per session, written information, and significant involvement of the family and multidisciplinary team. Conclusions: Our findings may help identify required adaptations to cognitive behavioral therapy protocols for this and similar genetic conditions.


Author(s):  
Patricia Davis Ghidoni ◽  
Daniel E. Hale ◽  
Jannine D. Cody ◽  
Charles T. Gay ◽  
Nora M. Thompson ◽  
...  

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