Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and within families. Linkage analysis localized the genetic defect of MRX43 to Xp22. 31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of >2 at straight theta = 0.0 in all four families.
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PeerJ
January 2025
Genomic Mechanisms of Ontogenesis, Institute of Cytology and Genetics, Novosibirsk, Novosibirsk, Russia.
Copy number variations of the human gene, resulting from megabase-scale microdeletions or microduplications in the 3p26.3 region, are frequently implicated in neurodevelopmental disorders such as intellectual disability and developmental delay. However, duplication of the full-length human gene presents with variable penetrance, resulting in phenotypes that range from neurodevelopmental disorders to no visible pathologies, even within the same family.
View Article and Find Full Text PDFCureus
December 2024
Neurology, Neurology and Neurophysiology Center, Vienna, AUT.
The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences.
View Article and Find Full Text PDFFront Psychiatry
January 2025
Laboratoire Lorrain de Psychologie et Neurosciences de la Dynamique des Comportements, Université de Lorraine, Nancy, Lorraine, France.
Background: This study examined the profiles of adaptive behavior development in adults with autism spectrum disorder (ASD) and severe intellectual disability (ID), and the relationships between the levels of the different domains and subdomains of adaptive development and the intensity of autistic symptomatology.
Participants: This study involved 71 adults (44 men and 27 women with average ages of 39 years 7 months and 36 years 2 months, respectively) living in medico-social institutions and having a level of adaptive development corresponding to age below 3 years 4 months and a level of cognitive development corresponding to ages between 12 and 24 months.
Methods: ASD was diagnosed using Pervasive Development Disorder-Mental Retardation Scale (PDD-MRS) and Childhood Autistic Rating Scale (CARS), ID and its severity were determined based on the Diagnostic Statistical Manual-5 (DSM-5) criteria, and the very low cognitive developmental level was assessed using the Socio-emotional Cognitive Evaluation Battery (Adrien, Pearson-ECPA, 2007), adapted for adults (SCEB-A).
Mol Autism
January 2025
Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.
Background: Significant progress has been made in elucidating the genetic underpinnings of Autism Spectrum Disorder (ASD). However, there are still significant gaps in our understanding of the link between genomics, neurobiology and clinical phenotype in scientific discovery. New models are therefore needed to address these gaps.
View Article and Find Full Text PDFSci Rep
January 2025
The Department of Cellular and Integrative Physiology, The University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
Fragile X syndrome (FXS) is a neurodevelopmental disorder oftentimes associated with abnormal social behaviors and altered sensory responsiveness. It is hypothesized that the inappropriate filtering of sensory stimuli, including olfaction, can lead to aberrant social behavior in FXS. However, previous studies investigating olfaction in animal models of FXS have shown inconsistent results.
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