The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant

2020 ◽  
Vol 182 (11) ◽  
pp. 2788-2792
Author(s):  
Cha Gon Lee ◽  
Chang Ahn Seol ◽  
Chang‐Seok Ki
Keyword(s):  
Developmental Disorder ◽  
Familial Case ◽  
Behavioral Abnormalities ◽  
Intellectual Developmental Disorder

scholarly journals BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

2021 ◽  
Author(s):  
Angela Peron ◽  
Felice D’Arco ◽  
Kimberly A. Aldinger ◽  
Constance Smith-Hicks ◽  
Christiane Zweier ◽  
...  
Keyword(s):  
Posterior Fossa ◽  
Developmental Disorder ◽  
Brain Mri ◽  
Fetal Hemoglobin ◽  
Clinical Information ◽  
Autism Spectrum ◽  
Behavioral Abnormalities ◽  
Depth Analysis ◽  
Vermian Hypoplasia ◽  
Intellectual Developmental Disorder

AbstractPurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe performed an in-depth analysis of 42 patients with BCL11A-IDD ascertained through a collaborative network of clinical and research colleagues. We also reviewed 33 additional affected individuals previously reported in the literature or available through public repositories with clinical information.ResultsMolecular and clinical data analysis of 75 patients with BCL11A-IDD identified 60 unique variants (30 frameshift, 7 missense, 6 splice-site, 17 stop-gain) and 8 unique CNVs (microdeletions involving BCL11A only). We redefined the most frequent manifestations of the condition: intellectual disability, hypotonia, behavioral abnormalities, postnatal microcephaly and autism spectrum disorder. Two thirds of patients have brain MRI abnormalities, and we identified a recurrent posterior fossa phenotype of vermian hypoplasia and/or small brainstem. Truncating BCL11A variants, particularly those affecting the long (BCL11A-L) and extra-long (-XL) isoforms, sparing the short (-S) isoform, were associated with increased severity.ConclusionsWe expand the clinical delineation of BCL11A-IDD and identify a potential isoform-specific genotype-phenotype correlation. We show that BCL11A-IDD is associated with posterior fossa anomalies and highlight the differences between BCL11A-IDD and 2p16.1p15 microdeletion syndrome.

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

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

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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