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)

A group of 199 children and adolescents (153 boys, 46 girls) with autistic disorder was audiologically evaluated. Mild to moderate hearing loss was diagnosed in 7.9% and unilateral hearing loss in 1.6% of those who could be tested appropriately. Pronounced to profound bilateral hearing loss or deafness was diagnosed in 3.5% of all cases, representing a prevalence considerably above that in the general population and comparable to the prevalence found in populations with mental retardation. Hearing deficits in autism occurred at similar rates at all levels of intellectual functioning, so it does not appear that the covariation with intellectual impairment per se can account for all of the variance of hearing deficit in autism. Hyperacusis was common, affecting 18.0% of the autism group and 0% in an age-matched nonautism comparison group. In addition, the rate of serous otitis media (23.5%) and related conductive hearing loss (18.3%) appeared to be increased in autistic disorder. The study emphasizes the need for auditory evaluation of individuals with autism in order to refer those with pronounced to profound hearing loss for aural habilitation and to follow those with mild to moderate hearing loss because of the risk of deterioration.
J Autism Dev Disord 1999 Oct
PMID:Autism and hearing loss. 1058 81

Clinical reports on autism describe abnormal responses to auditory stimuli such as intolerance to sounds. The present study assessed subjective perception of loudness in subjects with autism compared to healthy controls, using two psychoacoustic tests. First, the auditory dynamic range was evaluated at six different tone frequencies. Secondly, loudness growth as a function of the intensity level of a 1 kHz tone was estimated. Verbal responses from a group of 11 children and adolescents with autism were compared to responses of 11 age- and gender- matched healthy controls. Smaller auditory dynamic ranges were found in the autistic group than in the control group, as well as increased perception of loudness, indicating hyperacusis in subjects with autism.
 ...
PMID:Increased perception of loudness in autism. 1561 27

Williams syndrome is a neurodevelopmental disorder caused by a deletion on chromosome 7. It is characterized by a range of medical problems in addition to severe impairments in visuospatial processing and oversensitivity to sounds, including hypersensitivity to sounds (hyperacusis) and extreme fear from sounds (phonophobia). In spite of impairments in visuospatial processing, object and face processing abilities are relatively preserved in WS.The present review discusses the growing research in the field linking the unique sensory phenotype in WS with underlying structural and functional brain abnormalities. In addition, possible associations between the genetic defect and the abnormal sensory processing are presented. Because Williams syndrome is etiologically homogeneous, it may serve as a model to promote understanding of visuospatial and auditory processing in humans. The findings may also have important implications for other developmental psychopathologies, such as autism, schizophrenia and attention deficit hyperactivity disorder.
 ...
PMID:Auditory and visual processing in Williams syndrome. 2073 55

Hyperacusis, a marked intolerance to normal environmental sound, is a common symptom in patients with tinnitus, Williams syndrome, autism, and other neurologic diseases. It has been suggested that an imbalance of excitation and inhibition in the central auditory system (CAS) may play an important role in hyperacusis. Recent studies found that noise exposure, one of the most common causes of hearing loss and tinnitus, can increase the auditory cortex (AC) response, presumably by increasing the gain of the AC. However, it is not clear whether the increased cortical response will affect sound sensitivity and induce hyperacusis. In this experiment, we studied the effects of noise exposure (narrow band noise, 12 kHz, 120 dB SPL, 1 hour) on the physiological response of the inferior colliculus (IC) and the AC, and the behavioral sound reaction in conscious Sprague Dawley rats. Noise exposure induced a decrease of sound evoked potential in the IC. However, significant increases of AC response including sound evoked potentials and the spike firing rates of AC neurons were recorded right after the noise exposure. These results suggest that noise exposure induces hyperexcitability of AC presumably by increasing the post-synaptic response of AC neurons. The behavioral consequence of the noise exposure on sound perception was measured by the amplitude of the acoustic startle response before and after noise exposure in a separate group of rats. Although noise exposure caused a moderate hearing loss, the acoustic startle amplitude at the super-threshold level was significantly increased. These results suggest that noise exposure can cause exaggerated the sound reaction which may be related with the enhanced responsiveness of the AC neurons. This phenomenon may be related with noise induced hyperacusis.This article is part of a Special Issue entitled: Tinnitus Neuroscience.
 ...
PMID:Noise exposure enhances auditory cortex responses related to hyperacusis behavior. 2240 30

Autism is the third most common developmental disorder, following mental retardationand cerebral palsy. ASD children have been described more often as beingpreoccupied with or agitated by noise. The aim of this study was to evaluate theprevalence and clinical significance of semicircular canal dehiscence detected on CTimages in ASD children with intolerance to loud sounds in an attempt to find ananatomical correlate with hyperacusis.14 ASD children with auditory hypersensitivity and 15 ASD children without auditoryhypersensitivity as control group age and gender matched were submitted to historytaking, otological examination, tympanometry and acoustic reflex thresholdmeasurement. ABR was done to validate normal peripheral hearing and integrity ofauditory brain stem pathway. High resolution CT scan petrous and temporal boneimaging was performed to all participated children. All participants had normal hearingsensitivity in ABR testing. Absolute ABR peak waves of I and III showed no statisticallysignificant difference between the two groups, while absolute wave V peak andinterpeak latencies I-V and III-V were shorter in duration in study group whencompared to the control group. CT scans revealed SSCD in 4 out of 14 of the studygroup (29%), the dehiscence was bilateral in one patient and unilateral in threepatients. None of control group showed SSCD. In conclusion, we have reportedevidence that apparent hypersensitivity to auditory stimuli (short conduction time in ABR) despite the normal physiological measures in ASD children with auditoryhypersensitivity can provide a clinical clue of a possible SSCD.
 ...
PMID:Auditory profile and high resolution CT scan in autism spectrum disorders children with auditory hypersensitivity. 2358 33

Autism is a developmental disorder characterized, in part, by sensory abnormalities. It is well established that most if not all patients with autism have problems with auditory processing, ranging from deafness to hyperacusis, and physiological testing of auditory function (i.e. auditory brain stem responses) implicates brain stem dysfunction in autism. Additionally, previous research from this lab has revealed significantly fewer auditory brain stem neurons in autistic subjects as young as 2 years of age. These observations have led us to hypothesize that objective, noninvasive measures of auditory function can be used as an early screening tool to identify neonates with an elevated risk of carrying a diagnosis of autism. Here, we provide a detailed quantitative investigation of the acoustic stapedial reflex (ASR), a three- or four-neuron brain stem circuit, in young autistic subjects and normal developing controls. Indeed, we find significantly lower thresholds, responses occurring at significantly longer latency and right-left asymmetry in autistic subjects. The results from this investigation support deficits in auditory function as a cardinal feature of autism and suggest that individuals with autism can be identified by their ASR responses.
Autism Res 2013 Oct
PMID:Quantification of the stapedial reflex reveals delayed responses in autism. 2382 93

Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs), but very little is known on their prevalence and clinical impact. In this study, we identified CNTN5 and CNTN6 deleterious variants in individuals with ASD. Among the carriers, a girl with ASD and attention-deficit/hyperactivity disorder was carrying five copies of CNTN5. For CNTN6, both deletions (6/1534 ASD vs 1/8936 controls; P=0.00006) and private coding sequence variants (18/501 ASD vs 535/33480 controls; P=0.0005) were enriched in individuals with ASD. Among the rare CNTN6 variants, two deletions were transmitted by fathers diagnosed with ASD, one stop mutation CNTN6W923X was transmitted by a mother to her two sons with ASD and one variant CNTN6P770L was found de novo in a boy with ASD. Clinical investigations of the patients carrying CNTN5 or CNTN6 variants showed that they were hypersensitive to sounds (a condition called hyperacusis) and displayed changes in wave latency within the auditory pathway. These results reinforce the hypothesis of abnormal neuronal connectivity in the pathophysiology of ASD and shed new light on the genes that increase risk for abnormal sensory perception in ASD.
 ...
PMID:CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. 2716 60

Autism spectrum disorder (ASD) is a developmental disability that is poorly understood. ASD can influence communication, social interaction, and behavior. Children with ASD often have sensory hypersensitivities, including auditory hypersensitivity (hyperacusis). In adults with hyperacusis who are otherwise neurotypical, the medial olivocochlear (MOC) efferent reflex is stronger than usual. In children with ASD, the MOC reflex has been measured, but without also assessing hyperacusis. We assessed the MOC reflex in children with ASD by measuring the strength of MOC-induced inhibition of transient-evoked otoacoustic emissions (TEOAEs), a noninvasive physiological measure that reflects cochlear amplification. MOC activity was evoked by contralateral noise. Hyperacusis was assessed subjectively on the basis of the children's symptoms. We found a significant correlation between hyperacusis scores and MOC strength in children with ASD. When children were divided into ASD-with-severe-hyperacusis (ASDs), ASD-with-not-severe-hyperacusis (ASDns), and neurotypical (NT) groups, the last two groups had similar hyperacusis and MOC reflexes, whereas the ASDs group, on average, had hyperacusis and MOC reflexes that were approximately twice as strong. The MOC inhibition of TEOAEs averaged larger at all frequencies in the ASDs compared with ASDns and NT groups. The results suggest that the MOC reflex can be used to estimate hyperacusis in children with ASD and might be used to validate future questionnaires to assess hyperacusis. Our results also provide evidence that strong MOC reflexes in children with ASD are associated with hyperacusis and that hyperacusis is a comorbid condition and is not a necessary, integral part of the abnormal neural processing associated with ASD.NEW & NOTEWORTHY Children with autism spectrum disorder (ASD) are a heterogeneous group, some with hyperacusis and some without. Our research shows that hyperacusis can be estimated in children with ASD by using medial olivocochlear (MOC) reflex measurements. By establishing that an objective measure correlates with attributes of hyperacusis, our results enable future work to enable subtyping of children with ASD to provide improved individualized treatments to at-risk children and those without adequate language to describe their hyperacusis symptoms.
 ...
PMID:Efferent inhibition strength is a physiological correlate of hyperacusis in children with autism spectrum disorder. 2859 87

Autistic spectrum disorder is a neurodevelopmental disorder characterized by qualitative impairment in social interactions and communication skills. In addition to these core features, sensory processing abnormalities such as auditory hypersensitivity have been frequently reported. Although the cause of auditory hypersensitivity remains unknown, it is thought to be associated with decreased inhibitory processing, possibly resulting from an abnormal sensory gating system or dysfunction of inhibitory interneurons. Its relation to drugs has not been well documented to date. In the literature, there is only one case on hyperacusis that worsened with risperidone in a 5-year-old girl with autism. Here we represent the case of an 11-year-old boy with autism, in whom hyperacusis worsened with risperidone, decreased after the discontinuation of the medication, and re-occurred after the prescription of the drug again. Although auditory hypersensitivity tends to affect the child's daily life negatively and is found to be correlated with behavioral problems in autistic patients, we still know very little about its etiology, treatment, and conditions related to it. There is a great need for conducting further studies in this regard.
 ...
PMID:Increased Hyperacusis with Risperidone in an Autistic Child. 2868 Mar 19

People with autism spectrum disorder (ASD) frequently show the symptoms of oversensitivity to sound (hyperacusis). Although the previous studies have investigated methods for quantifying hyperacusis in ASD, appropriate physiological signs for quantifying hyperacusis in ASD remain poorly understood. Here, we investigated the relationship of loudness tolerance with the threshold of the stapedial reflex and with contralateral suppression of the distortion product otoacoustic emissions, which has been suggested to be related to hyperacusis in people without ASD. We tested an ASD group and a neurotypical group. The results revealed that only the stapedial reflex threshold was significantly correlated with loudness tolerance in both groups. In addition to reduced loudness tolerance, people with lower stapedial reflex thresholds also exhibited higher scores on the Social Responsiveness Scale-2.
 ...
PMID:Stapedial reflex threshold predicts individual loudness tolerance for people with autistic spectrum disorders. 3031 Sep 38


1 2 Next >>