This report brings to light the results of cytogenetic study carried out on 350 mentally retarded persons (medium: Group I, deep Group II). In 8,2% and 12,56% of the cases a chromosomic abnormality is observed (mainly trisomy 21). These percentages are in correlation with the results of other studies. Ante and peri natal pathology plays a very important part among exogenous factors. In numerous cases a multifactors etiology can be found as the cause of this mental retardation, the effect of an initial organic mental retardation being aggravated by precocious affective perturbations. For those cases without apparent etiology, a teratologic origin may be thought as their cause.
Download full-text PDF |
Source |
---|
Psychiatr Genet
February 2025
Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, Universidade Estadual de Campinas, São Paulo, Brazil.
Heterozygous variants in the Early B cell factor 3 (EBF3) have been reported in individuals presenting with hypotonia, ataxia and delayed development syndrome (HADDS) (MIM#617330). However, individuals with pathogenic variants in EBF3 show phenotypic heterogeneity and very few variants in the C-terminal domain have been described. We report on a heterozygous de-novo variant in the EBF3 gene in an individual with neurodevelopmental delay and behavioural problems.
View Article and Find Full Text PDFJ Appl Res Intellect Disabil
March 2025
American Institutes on Research, Arlington, Virginia, USA.
Background: Many parents are the primary caregivers for their adult children with intellectual and/or developmental disabilities. While there can be many benefits of caregiving, there can also be negative consequences for the parent caregiver and, in turn, for their adult child with intellectual and/or developmental disabilities. Given the critical care that parents provide to their adult children with intellectual and/or developmental disabilities, we aimed to understand the supports parents need to be effective caregivers.
View Article and Find Full Text PDFJ Prim Care Community Health
March 2025
Universiti Kebangsaan Malaysia, Kuala Lumpur, Federal Territory of Kuala Lumpur, Malaysia.
Background: Individuals with cerebral palsy (CP) experience acute and chronic health issues requiring lifespan primary care. This review aimed to investigate characteristics and utilization of general practitioner (GP) access by adults with CP. Secondary aims included exploring reasons prompting access, identifying interventions provided, and personal features affecting access.
View Article and Find Full Text PDFPlay, in particular sex-typical play, is important for affective, cognitive, and social development. There is limited research on sex-typical play in autistic children. The few prior studies on this topic relied heavily on reports or involvement of caregivers/parents, did not assess cognitive abilities, and examined a limited number of sex-typical play outcomes.
View Article and Find Full Text PDFEur J Immunol
March 2025
Department of Immunology, Assistance Publique- Hôpitaux de Paris (AP-HP), Georges Pompidou European Hospital, Paris, France.
Inborn deficiencies of the alternative pathway (AP) of the complement system have been associated with life-threatening infections, mainly by encapsulated bacteria. Complete factor D (FD) deficiencies have been reported in only seven families in the literature. We report two new cases of biochemically and genetically confirmed complete FD deficiency, including the first in a Down syndrome patient.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!