scholarly journals Case study: organizing outpatient pharmacological treatment of bipolar disorder in autism, intellectual disability and Phelan-McDermid syndrome (22q13.3 deletion syndrome)

2020 ◽  
pp. 1-10
Author(s):  
Anne Langseth Rysstad ◽  
Arvid Nikolai Kildahl ◽  
Jon Olav Skavhaug ◽  
Monica Stolen Dønnum ◽  
Sissel Berge Helverschou
Keyword(s):  
Bipolar Disorder ◽  
Intellectual Disability ◽  
Pharmacological Treatment ◽  
Deletion Syndrome ◽  
22Q13.3 Deletion Syndrome

scholarly journals DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
L. C. Schenkel ◽  
E. Aref-Eshghi ◽  
K. Rooney ◽  
J. Kerkhof ◽  
M. A. Levy ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Critical Region ◽  
Deletion Syndrome ◽  
Genetic Defects ◽  
Chromosome 22 ◽  
Incomplete Penetrance ◽  
Variable Size ◽  
Variable Expressivity ◽  
Genome Wide ◽  
22Q13.3 Deletion Syndrome

Abstract Background Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, including the SHANK3 gene. Genetic defects in a growing number of neurodevelopmental genes have been shown to cause genome-wide disruptions in epigenomic profiles referred to as epi-signatures in affected individuals. Results In this study we assessed genome-wide DNA methylation profiles in a cohort of 22 individuals with Phelan-McDermid syndrome, including 11 individuals with large (2 to 5.8 Mb) 22q13.3 deletions, 10 with small deletions (< 1 Mb) or intragenic variants in SHANK3 and one mosaic case. We describe a novel genome-wide DNA methylation epi-signature in a subset of individuals with Phelan-McDermid syndrome. Conclusion We identified the critical region including the BRD1 gene as responsible for the Phelan-McDermid syndrome epi-signature. Metabolomic profiles of individuals with the DNA methylation epi-signature showed significantly different metabolomic profiles indicating evidence of two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Medical Comorbidity and Recovery in Individuals with Bipolar Disorder

CNS Spectrums ◽  
2009 ◽  
Vol 14 (S15) ◽  
pp. 16-19
Author(s):  
Martha Sajatovic
Keyword(s):  
Bipolar Disorder ◽  
Functional Recovery ◽  
Medical Comorbidity ◽  
Treatment Approaches ◽  
Medical Burden

This discussion will focus on medical comorbidity and recovery in individuals with bipolar disorder. The complexity of care will be discussed in the context of a case study, with particular focus on the medical burden of mania, aging and bipolar disorder, and treatment approaches that promote functional recovery.

Beneficial effect of lithium in female patient with bipolar affective illness and psoriasis

2021 ◽  
Vol 37 (2) ◽  
Author(s):  
Przemysław Filipiak ◽  
Anna Jaskóła ◽  
Karolina Gattner
Keyword(s):  
Bipolar Disorder ◽  
Case Report ◽  
Beneficial Effect ◽  
Female Patient ◽  
Lithium Treatment ◽  
The Other ◽  
Patient Needs ◽  
Affective Illness ◽  
First Time

Objectives. Psoriasis makes a relative contraindication for lithium treatment which can exacerbate its symptoms or induce it itself. On the other hand, lithium exerts immuno-modulatory activity. Case study. In this paper, a case of a female patient is presented. The patient has been treated since 2012 for bipolar affective illness (bipolar disorder – BD) and psori­asis, which occurred for the first time during a depress­ive episode. Despite intensive pharmacological treatment, both as inpatient and outpatient, a satisfactory improvement of affective illness has not been obtained. After the introduction of lithium, a remission of BD was achieved as well as a reduction of psoriatic changes, which have been maintained until now (2021). Conclusion. The remission of Bipolar Disorder (BD) on lithium can suggest that the patient belongs to the group of the so-called excellent lithium responders. In the presen­ted case remission of psoriasis was observed during lithium treatment. This case report must be treated with caution because remission could be spontaneous and the patient needs further observation.

A therapeutic “innovation”…

2011 ◽  
Vol 26 (S2) ◽  
pp. 1673-1673
Author(s):  
A. Matos-Pires ◽  
F. Salazar-Garcia ◽  
E. Monteiro ◽  
D. Estevens
Keyword(s):  
Bipolar Disorder ◽  
Domestic Violence ◽  
Violence Against Women ◽  
Psychiatric Symptoms ◽  
Chronic Traumatic Encephalopathy ◽  
Gender Violence ◽  
Multiple Injuries ◽  
Frontal Lesion

Domestic violence, particularly violence against women, is a scourge that has killed this year in Portugal more than twenty women.Our aim is to present a case study on the issue of gender violence on a 49 years old woman with a prior diagnosis of bipolar disorder and its (terrible) consequences.The multiple injuries sustained over several years “treated” the bipolar disorder. Apart from a frontal lesion on CT there is now a set of neurological and psychiatric symptoms compatible with a diagnosis of chronic traumatic encephalopathy (CTE) “boxer's dementia” like.

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