Reconceptualilzing agitation in autism as primary affective dysregulation: Case report and literature review of use of quetiapine in a patient with Treacher–Collins syndrome and autism

2017 ◽  
Vol 41 (S1) ◽  
pp. S434-S434
Author(s):  
R. Cosme ◽  
S. Dharmapuri

This case report describes the successful use of low dose quetiapine in the treatment of agitation in a patient with Treacher–Collins syndrome (TCS) and suspected autistic spectrum disorder (ASD). Results from this case report found better efficacy in controlling symptoms of agitation in ASD utilizing lower doses of quetiapine. TCS is a genetic disorder that is characterized by a mandibulofacial dysostosis but is not associated with developmental delay, nor is it associated with a high risk of co-morbid autism, and to our knowledge, there are no previous reports of a co-occurrence of TCS and ASD in the extant literature. There are reports of mandibulofacial dysostosis associated with co-morbid developmental delay that are similar but distinct from TCS, however these reports do not comment on the treatment of agitation in this patient population. The results described in this case report demonstrate a reduction of agitation with low dose quetiapine, and offers support for the reconceptualization of agitation in ASD as a primary affective dysregulation which is also in line with evidence from the extant literature regarding the neurobiologic basis of aggression.Disclosure of interestThe authors have not supplied their declaration of competing interest.

2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Bien Lai ◽  
Joseph Muenzer ◽  
Michael W. Roberts

This is a case report of a patient with idiopathic gingival hyperplasia and an undiagnosed genetic disorder that demonstrated static encephalopathy, mental retardation, developmental delay, seizures, hypotonia, and severe gingival hypertrophy. The clinical dental management and attempts to obtain a genetic diagnosis are described.


1981 ◽  
Vol 27 (2) ◽  
pp. 239-243
Author(s):  
Shinji NISHIMURA ◽  
Yasuhide TOCHIMURA ◽  
Takatoki ONO

2021 ◽  
Vol 8 (11) ◽  
pp. 100-105
Author(s):  
Niharika Kumari ◽  
Gopa Kumar R Nair ◽  
Vinay Mohan

The Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome. Treacher Collins syndrome (TCS) is related to atypical differentiation of the first and second pharyngeal arches, taking place during fetal development. Prevalence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. This article describes clinical and radiographic features of TCS who had reported to the department of Oral Medicine and Radiology with the complaint of multiple dental caries. Also diagnosis, differential diagnosis, management and preventive aspects are discussed. Keywords: Treacher Collins syndrome, TCS, mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein syndrome.


Author(s):  
Keevan Singh ◽  
Candice Ramdin

Noonan’s syndrome is a relatively rare genetic disorder with distinct clinical manifestations. Surgery is usually required early on in life however many of these patients can present for surgery later in life. Specific challenges to the anaesthesia can include, coexistent cardiac abnormalities, risk of difficult intubation, bleeding abnormalities, scoliosis and the potential for triggering Malignant Hyperthermia. Although characteristic phenotypical appearances can become less distinct with age, many abnormalities persist along with new potential problems. We report a case of an adult male with Noonan’s syndrome who developed severe scoliosis and presented for elective hemorrhoid repair. The procedure was safely performed under low dose spinal saddle anaesthesia. We also review the relevant perioperative issues and the challenges that can be encountered when deciding on the most appropriate mode of anaesthesia.


2007 ◽  
Vol 20 (1) ◽  
pp. 71
Author(s):  
Young Bok Lee ◽  
Jong Taek Park ◽  
Ja Youn Jeon ◽  
Kwang Ho Lee

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  


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