Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To obtain some speech discrimination without lip reading it is necessary to elicit different frequency sound sensations in the totally deaf cochlea. Thus, electrically proofs compartments must be created all along the cochlear keyboard. The placement of twelve intracochlear electrodes is greatly facilitated by using our electrode-bearer, which is introduced through the round window by a posterior tympanotomy approach. However, partial or complete ossification of the cochlea may sometimes necessitate the use of our first technique of placement of electrodes one by one with Silastic pieces through twelve cochlear fenestrations. The indications for implanting depend on certain immutable criteria (total deafness, auditory response to electrical stimulation of the round window, patient's motivation), but other criteria are also described and discussed (socialization level, cochlear ossification, and preoperative electrophysiologic data). Associated handicaps (autism, blindness, tetraplegia) are not contraindications and often represent supplementary reasons for implantation.
 ...
PMID:Technique and indications for the French multichannel cochlear implant "Chorimac-12" for total deafness rehabilitation. 383 32

More than 90% of cases of patients suffering from acquired or congenital deafness may be provided with some sound sensation owing to the electrical stimulation of the few cochlear nerve fibers that are still present in the deaf cochlea. In order to obtain some speech discrimination without lip reading it is necessary to elicite different frequency sound sensations. Thus electrically proofs compartments must be performed all along the cochlear keyboard. The placement of 12 intra-cochlear electrodes is greatly facilitated by using an electrodes-bearer which is introduced through a very simple and classical surgical procedure. The indications for implanting depend on undiscussible criteria (total deafness, auditory response to electrical stimulation of the round window, patient's motivation). Clinical results consist of psychoaffective improvement and auditory possibilities. All patients are able to discriminate homosyllabic words in closed lists without lips reading, but the percentages of these performances greatly vary from one patient to the other. Some patients, generally suffering from acquired total deafness, are able to discriminate words or sentences without reference list and without help of lips reading. These results depend on the patient's socialization level, on the pre or post-lingual status of the deafness, on an eventual cochlear ossification, and on the value of several pre operative electro physiological data. Associated handicaps (autism, blindness, tetraplegia) are not contra indications and often represent supplementary reasons for implanting. The value of these post-operative results may be predicted owing to a series of electrical pre-operative tests and clinical data. Thus it is possible to determine the respective indications of multi and single channel cochlear implants.
 ...
PMID:The Chorimac-12. A multichannel cochlear implant for total deafness. Description and clinical results. 384 55

In the past, studies have been conducted to determine dental and dental hygiene students' attitudes toward the disabled following their clinical experience. The purpose of this study was to identify how dental hygiene students' attitudes toward treating clients with disabilities changed between the start and the end of their didactic and clinical rotation. Earlier research had examined dental hygiene students' attitudes toward individuals with disabilities following either a limited didactic and clinical course addressing disabilities or at the completion of their dental hygiene education. Few investigations had examined students' attitudes prior to and at the completion of a long-term course on clients with disabilities. The aim of this investigation was to determine if a one-year clinical and didactic course addressing various disabilities would result in a significant change in the students' attitudes and comfort level when treating clients with disabilities. The survey researched the attitudes of 18 senior dental hygiene students in the special care clinic at Baylor College of Dentistry, Texas. The students received a pre- and post-modified survey of the "Dental Students' Attitudes Toward the Handicapped Scale" and were asked to rank their responses from strongly agree (5) to strongly disagree (1). The following areas were assessed: Group 1 (Positive Perceptions of Educational Training); Group 2 (Negative Attitude Toward Treating Persons with Disabilities); Group 3 (Providing Dental Services); Group 4 (Negative Perceptions of Educational Training); and Group 5 (Comfort Level when Treating Persons with Disabilities). There was a significant improvement in the students' attitudes in Groups 1, 2 and 4 with p-values for the questions in these groups ranging between p < 0.001 to p < 0.05. In Group 3, only two out of the five questions yielded a significant change in attitude, p < 0.001 to p < 0.01. Following the rotation, when asked about their comfort level in treating clients with disabilities (Group 5), the students reported being comfortable treating persons with autism p < 0.01, cerebral palsy p < 0.05, quadriplegia and paraplegia p < 0.05.
 ...
PMID:Dental hygiene students' attitudes toward treating individuals with disabilities. 961 52

Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generation family. The inheritance pattern in this family was suggested to be maternal imprinting, as all affected individuals inherited the deletion from their fathers and monoallelic protein expression was observed. We present a family in which the proband's phenotype, including autism spectrum disorder, motor delay, and intellectual disability, is consistent with this previous report of KANK1 deletions. However, a paternally inherited deletion in the proband's unaffected sibling did not support maternal imprinting. This family raises consideration of further complexity of the KANK1 locus, including variable expressivity, incomplete penetrance, and the additive effects of additional genomic variants or the potential benign nature of inherited copy number variations (CNVs). However, when considered with the previous publication, our case also suggests that KANK1 may be subject to random monoallelic expression as a possible mode of inheritance. It is also important to consider that KANK1 has two alternately spliced transcripts, A and B. These have differential tissue expression and thus potentially differential clinical significance. Based upon cases in the literature, the present case, and information in the Database of Genomic Variants, it is possible that only aberrations of variant A contribute to neurodevelopmental disease. The familial deletion in this present case does not support maternal imprinting as an inheritance pattern. We suggest that other inheritance patterns and caveats should be considered when evaluating KANK1 deletions, which may become increasingly recognized through whole genome microarray testing, whole genome sequencing, and whole exome sequencing techniques.
 ...
PMID:Familial KANK1 deletion that does not follow expected imprinting pattern. 2345 70

Whole-exome sequencing (WES) represents a significant breakthrough in clinical genetics, and identifies a genetic etiology in up to 30% of cases of intellectual disability (ID). Using WES, we identified seven unrelated patients with a similar clinical phenotype of severe intellectual disability or neurodevelopmental delay who were all heterozygous for de novo truncating variants in the AT-hook DNA-binding motif-containing protein 1 (AHDC1). The patients were all minimally verbal or nonverbal and had variable neurological problems including spastic quadriplegia, ataxia, nystagmus, seizures, autism, and self-injurious behaviors. Additional common clinical features include dysmorphic facial features and feeding difficulties associated with failure to thrive and short stature. The AHDC1 gene has only one coding exon, and the protein contains conserved regions including AT-hook motifs and a PDZ binding domain. We postulate that all seven variants detected in these patients result in a truncated protein missing critical functional domains, disrupting interactions with other proteins important for brain development. Our study demonstrates that truncating variants in AHDC1 are associated with ID and are primarily associated with a neurodevelopmental phenotype.
...
PMID:De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. 2714 74

A small heterozygous deletion involving KANK1 was originally reported in 2005 to cause cerebral palsy in one large Israeli family of Jewish Moroccan origin. There were nine affected children over two generations to five unaffected fathers. All of these children had congenital hypotonia that evolved into spastic quadriplegia over the first year of life, along with intellectual impairment and brain atrophy. The subsequent clinical depictions of other individuals with neurological disease harbouring a comparable KANK1 deletion have been extremely variable and most often quite dissimilar to the original family. The reported pathogenicity of these deletions has also been variable, due to an inconsistent nature of reported disease associations and limited data. We therefore sought to perform a review of the significance of small distal interstitial chromosome 9p24.3 deletions principally involving KANK1, including data from the VCGS cytogenetics laboratory. We found that carrier parents do not appear to display an increased frequency of neurological disease, individuals with a small KANK1 deletion have sometimes been found to have an alternate genetic diagnosis that explained their neurological condition, and small KANK1 deletions can be seen with approximate equal frequency in case and control populations. These data led us to conclude that small deletions involving KANK1 do not cause a highly-penetrant influence of large effect size and they are unlikely to contribute significantly to the aetiology of disease in patients with development delay, intellectual disability, autism or cerebral palsy. We recommend searching for an alternate explanation for disease in individuals with a neurological disorder found to have a small deletion involving KANK1.
 ...
PMID:Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants. 3068 69

Several years ago, our research group forwarded a model of goal-directed reaching and aiming that describes the processes involved in the optimization of speed, accuracy, and energy expenditure Elliott et al. (Psychol Bull 136:1023-1044, 2010). One of the main features of the model is the distinction between early impulse control, which is based on a comparison of expected to perceived sensory consequences, and late limb-target control that involves a spatial comparison of limb and target position. Our model also emphasizes the importance of strategic behaviors that limit the opportunity for worst-case or inefficient outcomes. In the 2010 paper, we included a section on how our model can be used to understand atypical aiming/reaching movements in a number of special populations. In light of a recent empirical and theoretical update of our model Elliott et al. (Neurosci Biobehav Rev 72:95-110, 2017), here we consider contemporary motor control work involving typical aging, Down syndrome, autism spectrum disorder, and tetraplegia with tendon-transfer surgery. We outline how atypical limb control can be viewed within the context of the multiple-process model of goal-directed reaching and aiming, and discuss the underlying perceptual-motor impairment that results in the adaptive solution developed by the specific group.
 ...
PMID:The multiple process model of goal-directed aiming/reaching: insights on limb control from various special populations. 3307 7