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Between 1% and 3% of persons in general population are estimated to have some degree of intellectual disability. A diagnosis of intellectual disability is based on clinical history, level of intellectual ability and level of adaptive function. Both, the intellectual and adaptive functioning are measured using individually administered standardized tests. More than 75% of persons who have intellectual disability have mild intellectual disability and an underlying specific etiology is less likely to be identified; whereas, in a small percentage of persons with severe intellectual disability, an underlying specific biologic cause is highly likely to be identified. Genetic abnormalities, inborn errors of metabolism and brain malformations are major categories of causes identified in severe to profound intellectual disability. The initial clinical presentation and recognition depends on the severity and underlying cause of intellectual disability. The etiology, severity, cognitive abilities, and adaptive function, vary among persons with intellectual disability and need consideration in developing a treatment plan. The physician plays an essential role in the evaluation, treatment of associated medical conditions and preventive care, and in facilitating and coordinating consultative services and community based care.
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http://dx.doi.org/10.21037/tp.2020.02.02 | DOI Listing |
J Intellect Disabil Res
March 2025
Research Department of Clinical, Educational & Health Psychology, University College London, London, UK.
Background: It is important to hear the perspectives of people with intellectual disabilities on dementia. This review aimed to explore views and experiences of dementia from the perspective of people with intellectual disabilities and methodologies enabling people with intellectual disabilities and dementia to participate in qualitative research.
Methods: Studies were identified in database searches, along with reference and citation searches.
Biol Psychiatry
March 2025
Wolfson Centre for Young People's Mental Health, Cardiff University; Centre for Neuropsychiatric Genetics and Genomics, Cardiff University. Electronic address:
Background: There is clinical interest in recognising copy number variants (CNVs) in children as many have immediate and long-term health implications. Neurodevelopmental CNVs are associated with intellectual disability, autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), conditions typically diagnosed by medical practitioners. However, neurodevelopmental CNVs may have additional, early developmental impacts that have yet to be examined in unselected populations.
View Article and Find Full Text PDFJ Korean Neurosurg Soc
March 2025
Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by pathogenic variants of TSC1 or TSC2 genes, leading to dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the formation of organ-specific tumors and neurological manifestations such as seizures, intellectual disability, and developmental delays. These characteristic clinical features are crucial for diagnosis, and genetic testing is playing an increasingly significant role.
View Article and Find Full Text PDFAm J Hum Genet
March 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA. Electronic address:
The CDKL (cyclin-dependent kinase-like) family consists of five members in humans, CDKL1-5, that encode serine-threonine kinases. The only member that has been associated with a Mendelian disorder is CDKL5, and variants in CDKL5 cause developmental and epileptic encephalopathy type 2 (DEE2). Here, we study four de novo variants in CDKL2 identified in five individuals, including three unrelated probands and monozygotic twins.
View Article and Find Full Text PDFPediatr Neurol
February 2025
Department of Pediatric Neurology, Jawaharlal Nehru Medical College, KLE Academy of Higher Education and Research, Belagavi, Karnataka, India. Electronic address:
Background: The burden of genetic causes of epilepsy is higher in infants and toddlers. Early diagnosis helps in precision therapy and prenatal diagnosis. The spectrum of genetic causes can vary depending on the location and prevalence of consanguinity practices.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!