scholarly journals Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency

2020 ◽  
Author(s):  
Keyword(s):  
Psychomotor Retardation ◽  
Adenosylhomocysteine Hydrolase

Low level trisomy 16 mosaicism causing psychomotor retardation, epilepsia, adipositas and clubbing feet in an 8-year old girl

2006 ◽  
Vol 37 (03) ◽  
Author(s):  
S Herbertz ◽  
MK Bernhard ◽  
A Kujat ◽  
W Kiess ◽  
A Merkenschlager
Keyword(s):  
Psychomotor Retardation ◽  
Trisomy 16 ◽  
Low Level

Depression Severity Is Related to Less Gross Body Movement: A Motion Energy Analysis

2021 ◽  
pp. 1-7
Author(s):  
Anna Sandmeir ◽  
Désirée Schoenherr ◽  
Uwe Altmann ◽  
Christoph Nikendei ◽  
Henning Schauenburg ◽  
...  
Keyword(s):  
Depressive Disorder ◽  
Energy Analysis ◽  
Rating Scale ◽  
Body Movement ◽  
Psychomotor Retardation ◽  
Diagnostic Interview ◽  
Depression Severity ◽  
Depressed Patients ◽  
Motion Energy ◽  
Objectively Measured

Psychomotor retardation is a well-known clinical phenomenon in depressed patients that can be measured in various ways. This study aimed to investigate objectively measured gross body movement (GBM) during a semi-structured clinical interview in patients with a depressive disorder and its relation with depression severity. A total of 41 patients with a diagnosis of depressive disorder were assessed both with a clinician-rated interview (Hamilton Depression Rating Scale) and a self-rating questionnaire (Beck Depression Inventory-II) for depression severity. Motion energy analysis (MEA) was applied on videos of additional semi-structured clinical interviews. We considered (partial) correlations between patients’ GBM and depression scales. There was a significant, moderate negative correlation between both measures for depression severity (total scores) and GBM during the diagnostic interview. However, there was no significant correlation between the respective items assessing motor symptoms in the clinician-rated and the patient-rated depression severity scale and GBM. Findings imply that neither clinician ratings nor self-ratings of psychomotor symptoms in depressed patients are correlated with objectively measured GBM. MEA thus offers a unique insight into the embodied symptoms of depression that are not available via patients’ self-ratings or clinician ratings.

scholarly journals Minireview: Thyroid Hormone Transporters: The Knowns and the Unknowns

2011 ◽  
Vol 25 (1) ◽  
pp. 1-14 ◽  
Author(s):  
W. Edward Visser ◽  
Edith C. H. Friesema ◽  
Theo J. Visser
Keyword(s):  
Thyroid Hormone ◽  
Organic Anion ◽  
Psychomotor Retardation ◽  
Cellular Level ◽  
Monocarboxylate Transporter ◽  
Causative Role ◽  
Organic Anion Transporting Polypeptide ◽  
Neurological Abnormalities ◽  
Knockout Animals

The effects of thyroid hormone (TH) on development and metabolism are exerted at the cellular level. Metabolism and action of TH take place intracellularly, which require transport of the hormone across the plasma membrane. This process is mediated by TH transporter proteins. Many TH transporters have been identified at the molecular level, although a few are classified as specific TH transporters, including monocarboxylate transporter (MCT)8, MCT10, and organic anion-transporting polypeptide 1C1. The importance of TH transporters for physiology has been illustrated dramatically by the causative role of MCT8 mutations in males with psychomotor retardation and abnormal serum TH concentrations. Although Mct8 knockout animals have provided insight in the mechanisms underlying parts of the endocrine phenotype, they lack obvious neurological abnormalities. Thus, the pathogenesis of the neurological abnormalities in males with MCT8 mutations is not fully understood. The prospects of identifying other transporters and transporter-based syndromes promise an exciting future in the TH transporter field.

scholarly journals Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

2021 ◽  
Author(s):  
Aleksandra Jakubiak ◽  
Krzysztof Szczałuba ◽  
Magdalena Badura-Stronka ◽  
Anna Kutkowska-Kaźmierczak ◽  
Anna Jakubiuk-Tomaszuk ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Congenital Anomalies ◽  
Chromosomal Region ◽  
Neurodevelopmental Disorder ◽  
Hirschsprung Disease ◽  
Psychomotor Retardation ◽  
Facial Features ◽  
Dysmorphic Features ◽  
Pathogenic Variants ◽  
Intragenic Deletions

AbstractMowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial features that change with the age, severe developmental delay with intellectual disability, and multiple congenital abnormalities. The authors describe the clinical and genetic aspects of 28th patients with Mowat-Wilson syndrome diagnosed in Poland. Characteristic dysmorphic features, psychomotor retardation, intellectual disability, and congenital anomalies were present in all cases. The incidence of most common congenital anomalies (heart defect, Hirschsprung disease, brain defects) was similar to presented in literature. Epilepsy was less common compared to previously reported cases. Although the spectrum of disorders in patients with Mowat-Wilson syndrome is wide, knowledge of characteristic dysmorphic features awareness of accompanying abnormalities, especially intellectual disability, improves detection of the syndrome.

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