Furthermore, the panorama of phenotypes with MECP2 mutations now extends far beyond RS to include normal girls and women, mild learning disability, autistic spectrum disorders, and X-linked mental retardation.
Neurofibromatosis type I (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene, leading to a variety of abnormalities in cell growth and differentiation, and to learning disabilities.
We have investigated a population consisted of 276 males with idiopathic mental retardation or learning disability and a control sample of 207 non-affected boys in order to determine if there was a possible phenotype consequence of the expanded unmethylated alleles for FRAXA/FRAXE loci.
On the basis of these results, we anticipate that array-CGH will become a routine method of genome-wide screening for imbalanced rearrangements in children with learning disability.
It is currently thought that fragile X syndrome (FraX; the most common inherited form of learning disability) results from having more than 200 cytosine-guanine-guanine (CGG) trinucleotide repeats, with consequent methylation of the fragile X mental retardation (FMR1) gene and loss of FMR1 protein (FMRP).
Because of the timing for onset of symptomatic hypocalcemia, it was presumed that the patient had anticonvulsant-induced hypocalcemia, and he carried that diagnosis for 18 yr. Chromosome 22q11 deletion syndrome was first suspected at age 32 yr, based on the findings of subtle dysmorphic facial features and a history of learning disability in a patient with PTH-deficient hypocalcemia.
However, mutations in MECP2 also have been identified in normal carrier female individuals, female individuals with mild learning disabilities and features of Angelman syndrome, and male individuals with Klinefelter syndrome or Rett syndrome-like features, fatal neonatal encephalopathy, and familial X-linked mental retardation with or without motor abnormalities.
Beneficial effects of the sigma1 receptor agonists igmesine and dehydroepiandrosterone against learning impairments in rats prenatally exposed to cocaine.
Our data suggest that a decreased expression of the gene encoding the 5-HTT transporter, due to "S" promoter polymorphism, may be associated with an increased availability to experiment illegal drugs among adolescents, particularly in the subjects with more consistent aggressiveness, NS temperament and learning disabilities.
MECP2 mutations have also been identified in individuals with a variety of clinical syndromes, including mild learning-disability in females, neonatal encephalopathy in males, and psychiatric disorders, autism and X-linked mental retardation in both males and females.
Effects of a novel cognitive enhancer, spiro[imidazo-[1,2-a]pyridine-3,2-indan]-2(3H)-one (ZSET1446), on learning impairments induced by amyloid-beta1-40 in the rat.
We showed that patients with TSC2 mutations have significantly more hypomelanotic macules and learning disability in contrast to those with TSC1 mutations, findings not noted in previous studies.
We showed that patients with TSC2 mutations have significantly more hypomelanotic macules and learning disability in contrast to those with TSC1 mutations, findings not noted in previous studies.
Our analysis showed significant differences in the severity of the accompanying malformations and the rates of learning disabilities in the FND subtypes, although the small patient numbers and method of patient ascertainment may have influenced the data.