14 variations were found in the three genes 3 of which, including a novel variant within intronic region of GNPTG and a heterozygous 2-bp deletion in coding region of GNPTAB, co-segregated with stuttering in the families they were found.
We found that GNPTG - a gene involved in the mannose-6-phosphate lysosomal targeting pathways - was significantly co-localized with the stuttering cortical network.
Thirty five PWS from ages 17 to 42 were recruited and 10 speech and language pathologists assessed their stuttering severity using either the SSI-4 or stuttering severity ratings (SR) to test validity and reliability of the Persian translated version.
Following treatment with ACTH, a reduction in SWI in all the patients was accompanied by a 72% improvement in ADHD or ASD, and 83.8% improvement in stuttering.
Although pallidal deep brain stimulation (GPi-DBS) is an effective treatment for dystonia, it may cause important stimulation-induced side-effects such as hypokinetic dysarthria or stuttering.
At the outset of this article, we posed the question of whether or not the current evidence from genetic studies of DLD and stuttering indicate that it would be fruitful to conduct studies aimed at determining the gene location for each of these disorders.
An enrichment analysis demonstrated that the genes identified with the stuttering cortical network shared a significantly overrepresented biological functionality of Neurofilament Cytoskeleton Organization (NEFH, NEFL and INA).
An enrichment analysis demonstrated that the genes identified with the stuttering cortical network shared a significantly overrepresented biological functionality of Neurofilament Cytoskeleton Organization (NEFH, NEFL and INA).
We report here the effect of maternal age and the age of the mother at the birth of her first child (maternal age 1st) as epistatic factors for the interaction of the dopamine D1 gene (DRD1) with obsessive-compulsive behaviors and with stuttering.
The severity of stuttering was positively correlated with the serum levels of testosterone, DHEA, and cortisol, whereas no association was seen between the stuttering and digit ratio, progesterone, or SHBG.
We found that increased NR2B expression in adult LMAN induced increases in song sequence diversity and slower song tempo more similar to juvenile songs, but also increased syllable repetitions similar to stuttering.
The purpose of this study was to investigate the influence of phonetic complexity as measured by the Word Complexity Measure (WCM) on the speed of single-word production in adults who do (AWS, n=15) and do not stutter (AWNS, n=15).
Findings suggest similar loci of stuttering in adults with PDS and ANS, and, for both groups, the probability of stuttering on a given word was more influenced by motor production variables than language variables.
Evidence is presented that RHD, RHCE, and other RH genes, may be interesting candidates to consider when searching for the genetic basis of hair whorl rotation (i.e., clockwise or counterclockwise), handedness (i.e., right handed, left handed or ambidextrous), speech laterality (i.e., right brained or left brained), speech dyslexia (e.g., stuttering), sexual orientation (i.e., heterosexual, homosexual, bisexual, or transsexual), schizophrenia, bipolar disorder, and autism spectrum disorder.
We identified a missense mutation in the N-acetylglucosamine-1-phosphate transferase gene (GNPTAB), which encodes the alpha and beta catalytic subunits of GlcNAc-phosphotransferase (GNPT [EC 2.7.8.15]), that was associated with stuttering in a large, consanguineous Pakistani family.
Although pallidal deep brain stimulation (GPi-DBS) is an effective treatment for dystonia, it may cause important stimulation-induced side-effects such as hypokinetic dysarthria or stuttering.
Findings suggest similar loci of stuttering in adults with PDS and ANS, and, for both groups, the probability of stuttering on a given word was more influenced by motor production variables than language variables.
Although the LPC elicited in CWS-eRecovered and CWNS did not differ, the LPC elicited in the CWS-ePersisted was smaller in amplitude compared with that in CWNS.