scholarly journals A-251 3q29 Deletion Syndrome and Neuropsychological Functioning: Fraternal Twin Case Study

2020 ◽  
Vol 35 (6) ◽  
pp. 1046-1046
Author(s):  
Nemeth D ◽  
Chustz K

Abstract Objective The 3q29 Deletion Syndrome, first described in 2005, is a rare chromosomal disorder which results in a wide array of symptoms. Affected individuals present with complex neuropsychiatric profiles. The associated phenotype for this syndrome may include developmental delay, intellectual disabilities, attentional deficits, behavioral disturbances, and social and emotional issues. These individuals are at a higher risk of developing autism or schizophrenia. This case study describes the neuropsychological profiles of two fraternal twin girls, age 7, only one of whom was diagnosed with 3q29 Deletion Syndrome. Methods Both girls received comprehensive neuropsychoeducational evaluations to compare and contrast the following dimensions: Neurocognitive, Intellectual, Educational, Attentional, School Behavioral, Affective, and Personality Functioning. Results Twin 1, positive for 3q29 Deletion Syndrome, exhibits significant affective, behavioral, and cognitive difficulties secondary to her chromosomal disorder, which included learning disabled and oppositional presentations and emotional dyscontrol. Twin 2 exhibited superior intellectual and social functioning. Conclusions This study contributes to the understanding of the clinical presentation of 3q29 Deletion Syndrome by examining the relationship between fraternal twin sisters. Findings are consistent with earlier reports of the chromosomal disorder’s phenotype, yielding neurocognitive, emotional, and behavioral difficulties. Though the twins have widely different neuropsychological profiles, they have a close relationship. Twin 2, who models excellent prosocial behaviors, will be an asset to Twin 1 in all spheres. Ongoing efforts to improve Twin 1’s neuropsychological, social/emotional, and behavioral functioning will be facilitated via both psychological and psychopharmacological interventions.

2020 ◽  
Vol 35 (6) ◽  
pp. 836-836
Author(s):  
Chustz K M ◽  
Capps C ◽  
Nemeth D G

Abstract Objective The 3q29 Deletion Syndrome, first described in 2005, is a rare chromosomal disorder which results in a wide array of symptoms. Affected individuals present with complex neuropsychiatric profiles. The associated phenotype for this syndrome may include developmental delay, intellectual disabilities, attentional deficits, behavioral disturbances, and social and emotional issues. These individuals are at a higher risk of developing autism or schizophrenia. This case study describes the neuropsychological profiles of two fraternal twin girls, age 7, only one of whom was diagnosed with 3q29 Deletion Syndrome. Methods Both girls received comprehensive neuropsychoeducational evaluations to compare and contrast the following dimensions: Neurocognitive, Intellectual, Educational, Attentional, School Behavioral, Affective, and Personality Functioning. Results Twin 1, positive for 3q29 Deletion Syndrome, exhibits significant affective, behavioral, and cognitive difficulties secondary to her chromosomal disorder, which included learning disabled and oppositional presentations and emotional dyscontrol. Twin 2 exhibited superior intellectual and social functioning. Conclusions This study contributes to the understanding of the clinical presentation of 3q29 Deletion Syndrome by examining the relationship between fraternal twin sisters. Findings are consistent with earlier reports of the chromosomal disorder’s phenotype, yielding neurocognitive, emotional, and behavioral difficulties. Though the twins have widely different neuropsychological profiles, they have a close relationship. Twin 2, who models excellent prosocial behaviors, will be an asset to Twin 1 in all spheres. Ongoing efforts to improve Twin 1’s neuropsychological, social/emotional, and behavioral functioning will be facilitated via both psychological and psychopharmacological interventions.


Author(s):  
Kayla Mckenzie Chustz ◽  
Sarah A. Grimmer ◽  
Darlyne G. Nemeth ◽  
Fernando Pastrana

1986 ◽  
Vol 28 (3) ◽  
pp. 353-366
Author(s):  
Helen Lang

Some recent work on industrial relations in the Australian minirtg industry has focused on a close relationship between the incidence of strikes and the stockpiling of the mineral mined. It is argued that when demand for a mineral falls and the stockpile grows, management can afford the disruption to production caused by strikes. Hence management will take action to provoke strikes by introducing changes in work practices it knows will be opposed by unionists. Not only are the unions more likely to be defeated, but the company concerned is also able to reduce the size of its stockpile of ore. A case-study of the nickel-mining centre of Kambalda in Western Australia suggests that the size of the stockpile isfar less relevant when management and unions have a consensual approach to industrial relations. The stockpile is a strategic variable rather than a cause of industrial disputes. Whether the stockpile is manipulated as part of management's strategy will depend on innumerable, interdependent factors, including the organization of social life in a mining town and whether effective co operative relations develop between managers and unions.


2018 ◽  
Vol 8 (6) ◽  
pp. 313-316 ◽  
Author(s):  
Ann Marie Ruhe ◽  
Imran Qureshi ◽  
David Procaccini

Abstract DiGeorge Syndrome (22q11.2 deletion syndrome) is a chromosomal disorder associated with both congenital heart malformations and schizophrenia, which is often treatment-resistant and may warrant treatment with clozapine. Clozapine-induced myocarditis (CIM) is a rare complication of clozapine therapy, with a reported incidence ranging from 0.015% to 3%. Fulminant CIM has a nonspecific presentation in both adult and pediatric populations and a mortality rate approaching 50%. Few cases of pediatric CIM have been documented in the literature. This report highlights a case of CIM in an adolescent male with DiGeorge Syndrome whose clinical course was characterized by a subtle, nonspecific presentation and resolution with supportive care.


2021 ◽  
Author(s):  
Giovanni Maria Biddau ◽  
Gianfranco Sanna ◽  
Silvia Serreli

Environmental disasters and the high degree of exposure of cities to these risks are well known. What is evident is the close relationship between these disasters and urban transformations generated by sectoral approaches to landscape design that have made territories more vulnerable to extreme weather and climate events. With the aim of creating an open and sustainable spatial plan, the case study outlined in this article is intended as an approach to climate adaptation, even though in Sardinia the connection between climate change and flood risk has not been studied in depth and the evidence of this connection has not yet emerged.


Author(s):  
Alice Lovejoy

This chapter, by Alice Lovejoy, chronicles the United States Office of War Information’s plans to distribute forty Hollywood feature films in liberated Europe under the auspices of the Supreme Headquarters Allied Expeditionary Force’s Psychological Warfare Division (PWD-SHAEF). From the comparative perspectives of OWI and the Allied countries for which the films were destined (Belgium, the Netherlands, Norway, and Czechoslovakia, its central case study), it examines the economic, ideological, and pragmatic questions that intersected in these films’ selection and distribution, focusing on the tensions caused by OWI’s close relationship with the American film industry. The chapter argues that the case study of these forty films highlights Europe’s fraught political, cultural, and diplomatic relationship with American cinema on the cusp of the Cold War, as well as the complex logics underpinning film distribution in this period.


Author(s):  
Aleen Kojayan ◽  
Aubrey L. C. Statti ◽  
Kelly M. Torres

This qualitative case study investigated the influence of technology integration in a special education classroom for students who have ADHD. Technology has shown to have a positive influence on student academic, social, and emotional growth in a general education classroom. This study sought to understand the influence technology has for students struggling with ADHD. This study aimed to understand if technology can play a role in the development of students with ADHD specifically in the domains of academic and social growth. Through observations, interviews, and focus group sessions, six themes were deduced: importance of consistency in using technology, impact of group size, increased interest, increased independence, task initiation/time efficiency using Chromebook, and overall confidence academically and socially.


2019 ◽  
Vol 5 (1) ◽  
pp. 1-14 ◽  
Author(s):  
Carla Solvason ◽  
Alison Kington

Purpose The purpose of this paper, based upon research carried out between a university and a Local Authority (LA) in the Midlands, UK, is to explore the phenomenon of head teachers working collaboratively across clusters of primary schools, or inter-collaboration. Design/methodology/approach A qualitative case study approach was taken and the data collection methods co-constructed with the participants. Findings The head teachers were eager to share what they perceived as an overwhelmingly positive collaborative experience. The findings in this paper illustrate perhaps the most significant discovery, i.e. the role that the collaborative clusters can play in offering emotional support to those head teachers involved. Research limitations/implications This research was based within a specific LA, so the findings reflect the values manifested there. Quite different results may have been discovered in alternative contexts. Originality/value The personal, social and emotional needs of leaders are often overlooked in research whilst focussing upon the support that they offer to others. This paper explores the solitary role that headship can be and the function that supportive, collaborative clusters can provide in filling that emotional void.


Sign in / Sign up

Export Citation Format

Share Document