scholarly journals Inherited cases of CNOT3 ‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies

2020 ◽  
Vol 98 (4) ◽  
pp. 408-412
Author(s):  
Robert Meyer ◽  
Matthias Begemann ◽  
Stephanie Demuth ◽  
Florian Kraft ◽  
Daniela Dey ◽  
...  
Keyword(s):  
Developmental Disorder ◽  
Speech Delay ◽  
Intellectual Developmental Disorder

scholarly journals Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 967
Author(s):  
Mohamed H. Al-Hamed ◽  
Nada Alsahan ◽  
Maha Tulbah ◽  
Wesam Kurdi ◽  
Wafa’a I. Ali ◽  
...  
Keyword(s):  
Developmental Disorder ◽  
Chromosomal Microarray ◽  
Global Developmental Delay ◽  
Facial Features ◽  
Chromosomal Microarray Analysis ◽  
Speech Delay ◽  
Loss Of Function ◽  
Pathogenic Variants ◽  
Antenatal Sonography ◽  
First Time

Background: Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF, MIM 618316) is a newly described disorder. It is characterized by global developmental delay, intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Biallelic pathogenic variants of TMEM94 are associated with IDDCDF. Methods and Results: In a prenatal setting, where fetal abnormalities were detected using antenatal sonography, we used trio-exome sequencing (trio-ES) in conjunction with chromosomal microarray analysis (CMA) to identify two novel homozygous loss of function variants in the TMEM94 gene (c.606dupG and c.2729-2A>G) in two unrelated Saudi Arabian families. Conclusions: This study provides confirmation that TMEM94 variants may cause IDDCDF. For the first time we describe the pathogenicity of TMEM94 defects detected during the prenatal period.

scholarly journals Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

2020 ◽  
Vol 11 ◽  
Author(s):  
Muhammad Imran Naseer ◽  
Angham Abdulrahman Abdulkareem ◽  
Francisco J. Guzmán-Vega ◽  
Stefan T. Arold ◽  
Peter Natesan Pushparaj ◽  
...  
Keyword(s):  
Developmental Disorder ◽  
Missense Variant ◽  
Heterozygous State ◽  
Intellectual Developmental Disorder

Improving Balance in Adults With Intellectual Developmental Disorder via Virtual Environments

2021 ◽  
pp. 003151252110497
Author(s):  
Meir Lotan ◽  
Patrice L. Weiss
Keyword(s):  
Virtual Reality ◽  
Virtual Environments ◽  
Developmental Disorder ◽  
Control Group ◽  
Timed Up And Go ◽  
Balance Problems ◽  
Interest And Motivation ◽  
Experimental Group ◽  
Intellectual Developmental Disorder ◽  
Virtual Game

Balance problems have been found among 57% of adults with Intellectual Developmental Disorder (IDD). Moreover, these adults have only partially participated in conventional activity programs. There is a clear need for new interventions that will enhance these individuals’ interest and motivation toward improving their balance skills. Virtual gaming training experiences are a promising prospect in that regard. The purpose of this study was to examine the effect of virtual reality games on improving balance for adults with IDD. We recruited 31 individuals with mild-moderate IDD who had fallen at least twice in the year prior to initiating this intervention, and we evaluated these participants using the Timed Up and Go (TUG) test. The participants were randomly assigned to control and experimental groups, and only the latter group took part in a series of twelve 30-minute bi-weekly virtual game sessions, designed to improve balance using the SeeMe virtual game system. We found significant (p < .001) pre-post improvements in balance abilities in the experimental group and no significant pre-post change in the control group (p < .77). These data suggest that virtual game technology is a viable tool for improving balance among adults with IDD.

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