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Hum Mutat 2021 Apr 15. Epub 2021 Apr 15.

UMR1253, iBrain, University of Tours, Inserm, Tours, France.

The X-linked PTCHD1 gene, encoding a synaptic membrane protein, has been involved in neurodevelopmental disorders with the description of deleterious genomic microdeletions or truncating coding mutations. Missense variants were also identified, however without any functional evidence supporting their pathogenicity level. We investigated 13 missense variants of PTCHD1, including eight previously described (c. Read More

Neurosci Bull 2021 Apr 15. Epub 2021 Apr 15.

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, 410078, China.

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability, resulting from the lack of functional fragile X mental retardation protein (FMRP), an mRNA binding protein mainly serving as a translational regulator. Loss of FMRP leads to dysregulation of target mRNAs. The Drosophila model of FXS show an abnormal circadian rhythm with disruption of the output pathway downstream of the clock network. Read More

J Neuropsychol 2021 Apr 15. Epub 2021 Apr 15.

Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France.

Objective: To explore memory functioning 7 years after severe paediatric traumatic brain injury (TBI), associated factors, and relationships with other outcomes.

Method: Children aged 0-15 years (n = 65), consecutively admitted over a 3-year period in a single trauma centre, who survived after severe non-inflicted TBI, were included in a prospective longitudinal study. Memory assessments were performed 7 years post-injury using the Children's Memory Scale or the Wechsler Memory Scale (WMS IV), according to age. Read More

J Intellect Disabil Res 2021 Apr 15. Epub 2021 Apr 15.

Department of Special Education, Eskisehir Osmangazi University, Eskisehir, Turkey.

Background: The purpose of this exploratory study was to examine positive psychology constructs (life orientation/optimism, life satisfaction, happiness, psychological well-being and personal well-being) that may predict the family quality of life (FQOL) of parents of children with intellectual and developmental disabilities (IDD) in Turkey.

Methods: Data were obtained from a convenience sample of 660 parents of children with IDD who responded to six assessments, including a measure of FQOL. An analysis using stepwise multiple regression was conducted to identify predictors of FQOL as rated by parents. Read More

J Inherit Metab Dis 2021 Apr 14. Epub 2021 Apr 14.

Children's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX, USA.

Glutamyl-tRNA synthetase 2 (encoded by EARS2) is a mitochondrial aminoacyl-tRNA synthetase required to translate the 13 subunits of the electron transport chain encoded by the mitochondrial DNA. Pathogenic EARS2 variants cause combined oxidative phosphorylation deficiency, subtype 12 (COXPD12), an autosomal recessive disorder involving lactic acidosis, intellectual disability and other features of mitochondrial compromise. Patients with EARS2 deficiency present with variable phenotypes ranging from neonatal lethality to a mitigated disease with clinical improvement in early childhood. Read More