[PDF] Top 20 22q11 deletion syndrome: current perspective
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22q11 deletion syndrome: current perspective
... the current method of choice for detecting ...22q11.2 deletion region, and some atypical deletions do not include the region analyzed using FISH with commonly used probes (such as ... See full document
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Incidental Radiologic Findings in the 22q11 2 Deletion Syndrome
... To our knowledge, the current study represents the first neurora- diologic evaluation of incidental findings at a high field strength in 22q11DS. We found a higher rate of incidental findings within this ... See full document
6
22q11 deletion syndrome : parents' and children's experiences of educational and healthcare provision in the UK
... The survey questions (please see supplementary figure) explored individuals’ and/or parents’/ guardians’ views on education, whether individuals had additional support for learning at school; the extent to which they ... See full document
17
Linguistic and Nonverbal Abilities over Time in a Child Case of 22q11 Deletion Syndrome
... the perspective of a larger research agenda, further exploring the exact deficits in language and cognition presented by pathologies like 22q11DS contributes to the growing research interest in comparative ... See full document
26
Online Social Skills Group Training for Adolescents and Young Adults with 22q11 2 Deletion Syndrome (22q11 2DS)
... Recent studies also have focused on the specific contribution of social cogni- tive impairments to the presence of social difficulties in 22q11.2DS [12]. It is well established that both the affective ( i.e. emotion ... See full document
20
Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome
... The association between shyness and later onset of a psychotic disorder in 22q11.2DS is a pivotal finding of our study. Because individuals with 22q11.2DS are highly susceptible to developing psychotic disorders, in- ... See full document
8
The Danish 22q11 research initiative
... in 22q11 deletion carriers have pri- marily focused on psychosis outcome and have outlined several indicators of increased risk of transition to psych- osis, including low verbal IQ [36, 37], poor theory of ... See full document
12
The Role of Alpha- Synuclein And Other Parkinson’s Genes in Neurodevelopmental and Neurodegenerative Disorders
... There are overlapping clinical phenomena in cognitive and behavioral profiles of ASD and PD that can present independently of secondary causes such as medication, e.g., neuroleptics or dopamine agonists [52]. In a ... See full document
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Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
... gous deletion of the ...fore, current molecular genetic panels testing for muta- tions that cause hearing loss should be expanded to include deletion/duplication analysis for this region of ... See full document
5
Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology
... Participants were children aged 7 to 16 years (M = 11.4, SD = 2.52) with (n = 20, 10 females) and without (n = 32, 13 female) 22q11.2DS and their parents. The majority of participants were Caucasian (82%), while the ... See full document
50
Cardiovascular Anomalies in Patients Diagnosed With a Chromosome 22q11 Deletion Beyond 6 Months of Age
... chromosome 22q11 deletion syndrome. However, a 22q11 deletion may also be associated with cardiovascular defects that are less obvious, such as a vascular ring, which may not be diag- ... See full document
6
Chromosome 22q11 Deletion in Patients With Ventricular Septal Defect: Frequency and Associated Cardiovascular Anomalies
... chromosome 22q11 deletion in individuals with a VSD is not ...chromosome 22q11 deletion or whether particular cardiovascular anatomic features correlate with a chromosome 22q11 ... See full document
7
Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective
... But there are concerns regarding this practice in Marfan syndrome. The anterior chamber is excessively deep in most Marfan cases which prevent appropriate fitting of IOL and leads to exaggerated IOL movement. ... See full document
10
1p36 deletion syndrome: an update
... Since deletion of two or more 1p36-related genes or genomic regions could result in similar phenotypes, it would be unwise to automatically assume that the gene responsible for a specific phenotype must reside ... See full document
12
Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication
... Klippel-Feil Syndrome (KFS), Tourette Syndrome (TS), Motor Stereotypies, and Obsessive Compulsive Behavior, with chromosome ...22q11.2 deletion, including obsessive compulsiveness, anxiety, ... See full document
6
Two patients with chromosome 22q11 2 deletion presenting with childhood obesity and hyperphagia
... Willi syndrome (PWS), manifesting as poor feeding in the first year of life due to a poor suckling reflex and hypotonia, followed by hyperphagia and obsessive and abnormal behaviour around food such as hoarding, ... See full document
7
Deletion 22q13.3 syndrome
... Phelan-McDermid syndrome should receive routine medical care from their primary ...this syndrome becomes ...with deletion 22q13 than in the general popula- ...Phelan-McDermid syndrome should ... See full document
6
22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis
... 22q11.2 deletion syndrome (22q11DS) is caused by an autosomal dominant microdeletion of chromosome 22 at the long arm (q) ...the deletion, and is associated with an increased risk of psychiatric ... See full document
12
Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders
... included current or past: axis I psychiatric disorder, psychotropic drug treatment, substance abuse, first- degree family member with an axis I psychiatric disorder, or inability to pro- vide written informed ... See full document
8
Neural correlates of reward processing in adults with 22q11 deletion syndrome
... 60. Schneider M, Debbané M, Bassett AS, Chow EWC, Fung WLA, van den Bree MBM, Owen M, Murphy KC, Niarchou M, Kates WR, Antshel KM, Fremont W, McDonald-McGinn DM, Gur RE, Zackai EH, Vorstman J, Duijff SN, Klaassen PWJ, ... See full document
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