“…RESULTS: One 11.5‐year‐old female with prenatal and postnatal growth retardation, ventricular septal defect, intellectual disability, downward corners, short fifth metacarpal bone, scattered milk coffee spots, and a right ovarian cyst was included. …”
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“…In the first family, a 562.8‐kb duplication at Xq13.1 covering DLG3, TEX11, SLC7A3, GDPD2, and part KIF4A was identified in a boy whose phenotype was characterized by delayed speech development, mild intellectual disability (ID), mild dysmorphic facial features, a heart defect, and neuropsychiatric symptoms. …”
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“…Fragile X syndrome is the most common monogenetic cause of inherited intellectual disability and syndromic autism spectrum disorder. …”
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“…Neuropsychological assessment found moderate to severe intellectual disability. Imaging studies showed osteoporosis, bilateral coxa vara, diffuse platyspondyly without scoliosis, malrotation of the left kidney, severe microcephaly with simplified convolution pattern, and moyamoya features with secondary brain atrophy. …”
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“…Where clinical data were available, individuals with missense mutations all displayed phenotypes consistent with those observed in individuals with AHDC1 truncating mutations, including delayed motor milestones, intellectual disability (ID), hypotonia, and speech delay. …”
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“…In a clinical context, the disruption of these cellular processes could underlie the pathogenesis of several symptoms affecting BBSOAS patients, such as intellectual disability, visual impairment, epilepsy, and autistic traits. …”
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“…Early diagnosis and treatment are a challenge for medical authorities in developing countries to improve children's functional, intellectual, emotional, and social abilities. We aimed to study the prevalence of congenital hearing loss in northern Jordan community and identify factors that could affect hearing screening protocol. …”
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“…Significance: Our RNA expression analyses from the patient blood samples are the first ex vivo studies to support that both haploinsufficiency and truncation of STXBP1 protein (either dominant negative or haploinsufficiency) are causative mechanisms for epileptic encephalopathies, intellectual disability and developmental delay. The RNA assay also suggests that escape from nonsense-mediated RNA decay is possible when the nonsense mutation resides <50 nucleotides upstream of the last coding exon-exon junction even in the presence of additional non-coding exons that are 3′ downstream of the last coding exon.…”
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“…BACKGROUND: The association between maternal smoking in pregnancy and offspring intellectual disability (ID) is less well understood than that of smoking and fetal growth restriction. …”
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“…Being explicit about the values that underpin AMR and health security is not simply an intellectual exercise but has very real policy and programmatic implications.…”
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“…The first was a de novo variant in the PPP2R1A gene (c.773G > A, p.Arg258His), which is associated with autosomal dominant (AD) intellectual disability, accounting for the proband's clinical phenotype. …”
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“…We studied an individual with nevus sebaceous syndrome with an extensive nevus sebaceous, epilepsy, intellectual disability, and hippocampal sclerosis without pathological evidence of a brain malformation. …”
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“…Background: Adolescence is a period with physical, psychological, biological, intellectual, and social changes in which there is usually little perception of risk. …”
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“…BACKGROUND: Down syndrome (DS) is one of the most common chromosomal abnormalities among live-born babies and one of the best-known intellectual disability disorders in humans. Errors leading to trisomy 21 are primarily arising from defects in chromosomal segregation during maternal meiosis (about 88% of cases), and the focus of many investigations has been to identify maternal risk factors favoring chromosome 21 malsegregation during oogenesis. …”
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“…Increasing evidence support the role of pathogenic variants in GRIA1-4 genes as causative for syndromic intellectual disability (ID). We report an Italian pedigree where some male individuals share ID, seizures and facial dysmorphisms. …”
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“…We show that an individual with a heterozygous germline p.S1344L mutation has a severe form of DICER1 syndrome (‘DICER1 syndrome plus’), with notable features of intellectual disability, macrocephaly, physical abnormalities, Wilms tumour and a well-differentiated fetal adenocarcinoma of the lung.…”
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“…This strategy may be used for prenatal genetic counseling to avoid irreversible growth and intellectual development disorders in children.…”
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“…Patients and Methods: Young adults with no primary intellectual disability, 17 with focal epilepsy and 11 with generalized epilepsy participated and were compared to 28 healthy controls. …”
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“…These symptoms generally evolve in a fluctuating manner and are often aggravated by physical or intellectual effort. Over time they evolve slowly towards improvement. …”
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“…BACKGROUND: Vietnam’s economy and intellectual standards have witnessed significant development, improving conditions for residents to acquire novel mHealth applications. …”
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