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Paolo Curatolo - One of the best experts on this subject based on the ideXlab platform.

  • autism in tuberous sclerosis evoked potential evidence for a deficit in Auditory sensory processing
    Clinical Neurophysiology, 1999
    Co-Authors: Stefano Seri, Antonella Cerquiglini, Francesco Pisani, Paolo Curatolo
    Abstract:

    Abstract Objective : Autism is a frequent manifestation of tuberous sclerosis complex (TSC) being reported in up to 60% of the patients. Its presence is in association with cortical and subcortical lesions involving the temporal lobes. This study was designed to shed light on the functional mechanisms linking anatomical lesions of TSC and behavioural phenotype by investigating scalp recorded event related potentials to Auditory stimuli. Methods : Fourteen children with TSC, seven of which fulfilled the DSM IV criteria for autistic disorder were selected for this study. All of the subjects underwent high resolution MRI, EEG, brainstem Auditory evoked potentials, cognitive and behavioural evaluation. Electrical evoked Responses to two different pitches, presented with different probability (80% 1000 Hz, 20% 1500 Hz) were recorded from 21 scalp electrodes in the autistic and non-autistic subgroups, to assess central Auditory processing and automatic memory. Results : The first component of the long latency Auditory Response (N1) had a significantly prolonged latency with lower amplitude in all of the patients with autistic behaviour who, contrary to non-autistics had MRI lesions involving one or both temporal lobes. A mismatch negativity was detected in all subjects and had a longer latency in subjects with autistic behaviour. Conclusions : To our knowledge this is the first electrophysiological evidence of a deficit in Auditory information processing and automatic memory in TSC patients with autistic behaviour.

  • clinical insight autism in tuberous sclerosis evoked potential evidence for a deficit in Auditory sensory processing
    1999
    Co-Authors: Stefano Seri, Antonella Cerquiglini, Francesco Pisani, Paolo Curatolo
    Abstract:

    Objective: Autism is a frequent manifestation of tuberous sclerosis complex (TSC) being reported in up to 60% of the patients. Its presence is in association with cortical and subcortical lesions involving the temporal lobes. This study was designed to shed light on the functional mechanisms linking anatomical lesions of TSC and behavioural phenotype by investigating scalp recorded event related potentials to Auditory stimuli. Methods: Fourteen children with TSC, seven of which fulfilled the DSM IV criteria for autistic disorder were selected for this study. All of the subjects underwent high resolution MRI, EEG, brainstem Auditory evoked potentials, cognitive and behavioural evaluation. Electrical evoked Responses to two different pitches, presented with different probability (80% 1000 Hz, 20% 1500 Hz) were recorded from 21 scalp electrodes in the autistic and non-autistic subgroups, to assess central Auditory processing and automatic memory. Results: The first component of the long latency Auditory Response (N1) had a significantly prolonged latency with lower amplitude in all of the patients with autistic behaviour who, contrary to non-autistics had MRI lesions involving one or both temporal lobes. A mismatch negativity was detected in all subjects and had a longer latency in subjects with autistic behaviour. Conclusions: To our knowledge this is the first electrophysiological evidence of a deficit in Auditory information processing and automatic memory in TSC patients with autistic behaviour. q 1999 Elsevier Science Ireland Ltd. All rights reserved.

Albert S Feng - One of the best experts on this subject based on the ideXlab platform.

  • Response characteristics of neurons in the medial geniculate body of the little brown bat to simple and temporally patterned sounds
    Journal of Comparative Physiology A-neuroethology Sensory Neural and Behavioral Physiology, 1999
    Co-Authors: Daniel A Llano, Albert S Feng
    Abstract:

    We examined the Auditory Response properties of neurons in the medial geniculate body of unanesthetized little brown bats (Myotis lucifugus). The units' selectivities to stimulus frequency, amplitude and duration were not significantly different from those of neurons in the inferior colliculus (Condon et al. 1994), which provides the primary excitatory input to the medial geniculate body, or in the Auditory cortex (Condon et al. 1997) which receives primary input from the medial geniculate body. However, in Response to trains of unmodulated tone pulses, the upper cutoff frequency for time-locked discharges (64 ± 46.9 pulses per second or pps) and the mean number of spikes per pulse (19.2 ± 12.2 pps), were intermediate to those for the inferior colliculus and Auditory cortex. Further, in Response to amplitude-modulated pulse trains, medial geniculate body units displayed a degree of Response facilitation that was intermediate to that of the inferior colliculus and Auditory cortex inferior colliculus: 1.32 ± 0.33; medial geniculate body: 1.75 ± 0.26; Auditory cortex: 2.52 ± 0.96, P < 0.01). These data suggest that the representation of isolated tone pulses is not significantly altered along the colliculo-thalamo-cortical axis, but that the fidelity of representation of temporally patterned signals progressively degrades along this axis. The degradation in Response fidelity allows the system to better extract the salient feature in complex amplitude-modulated signals.

Stefano Seri - One of the best experts on this subject based on the ideXlab platform.

  • autism in tuberous sclerosis evoked potential evidence for a deficit in Auditory sensory processing
    Clinical Neurophysiology, 1999
    Co-Authors: Stefano Seri, Antonella Cerquiglini, Francesco Pisani, Paolo Curatolo
    Abstract:

    Abstract Objective : Autism is a frequent manifestation of tuberous sclerosis complex (TSC) being reported in up to 60% of the patients. Its presence is in association with cortical and subcortical lesions involving the temporal lobes. This study was designed to shed light on the functional mechanisms linking anatomical lesions of TSC and behavioural phenotype by investigating scalp recorded event related potentials to Auditory stimuli. Methods : Fourteen children with TSC, seven of which fulfilled the DSM IV criteria for autistic disorder were selected for this study. All of the subjects underwent high resolution MRI, EEG, brainstem Auditory evoked potentials, cognitive and behavioural evaluation. Electrical evoked Responses to two different pitches, presented with different probability (80% 1000 Hz, 20% 1500 Hz) were recorded from 21 scalp electrodes in the autistic and non-autistic subgroups, to assess central Auditory processing and automatic memory. Results : The first component of the long latency Auditory Response (N1) had a significantly prolonged latency with lower amplitude in all of the patients with autistic behaviour who, contrary to non-autistics had MRI lesions involving one or both temporal lobes. A mismatch negativity was detected in all subjects and had a longer latency in subjects with autistic behaviour. Conclusions : To our knowledge this is the first electrophysiological evidence of a deficit in Auditory information processing and automatic memory in TSC patients with autistic behaviour.

  • clinical insight autism in tuberous sclerosis evoked potential evidence for a deficit in Auditory sensory processing
    1999
    Co-Authors: Stefano Seri, Antonella Cerquiglini, Francesco Pisani, Paolo Curatolo
    Abstract:

    Objective: Autism is a frequent manifestation of tuberous sclerosis complex (TSC) being reported in up to 60% of the patients. Its presence is in association with cortical and subcortical lesions involving the temporal lobes. This study was designed to shed light on the functional mechanisms linking anatomical lesions of TSC and behavioural phenotype by investigating scalp recorded event related potentials to Auditory stimuli. Methods: Fourteen children with TSC, seven of which fulfilled the DSM IV criteria for autistic disorder were selected for this study. All of the subjects underwent high resolution MRI, EEG, brainstem Auditory evoked potentials, cognitive and behavioural evaluation. Electrical evoked Responses to two different pitches, presented with different probability (80% 1000 Hz, 20% 1500 Hz) were recorded from 21 scalp electrodes in the autistic and non-autistic subgroups, to assess central Auditory processing and automatic memory. Results: The first component of the long latency Auditory Response (N1) had a significantly prolonged latency with lower amplitude in all of the patients with autistic behaviour who, contrary to non-autistics had MRI lesions involving one or both temporal lobes. A mismatch negativity was detected in all subjects and had a longer latency in subjects with autistic behaviour. Conclusions: To our knowledge this is the first electrophysiological evidence of a deficit in Auditory information processing and automatic memory in TSC patients with autistic behaviour. q 1999 Elsevier Science Ireland Ltd. All rights reserved.

Daniel A Llano - One of the best experts on this subject based on the ideXlab platform.

  • Response characteristics of neurons in the medial geniculate body of the little brown bat to simple and temporally patterned sounds
    Journal of Comparative Physiology A-neuroethology Sensory Neural and Behavioral Physiology, 1999
    Co-Authors: Daniel A Llano, Albert S Feng
    Abstract:

    We examined the Auditory Response properties of neurons in the medial geniculate body of unanesthetized little brown bats (Myotis lucifugus). The units' selectivities to stimulus frequency, amplitude and duration were not significantly different from those of neurons in the inferior colliculus (Condon et al. 1994), which provides the primary excitatory input to the medial geniculate body, or in the Auditory cortex (Condon et al. 1997) which receives primary input from the medial geniculate body. However, in Response to trains of unmodulated tone pulses, the upper cutoff frequency for time-locked discharges (64 ± 46.9 pulses per second or pps) and the mean number of spikes per pulse (19.2 ± 12.2 pps), were intermediate to those for the inferior colliculus and Auditory cortex. Further, in Response to amplitude-modulated pulse trains, medial geniculate body units displayed a degree of Response facilitation that was intermediate to that of the inferior colliculus and Auditory cortex inferior colliculus: 1.32 ± 0.33; medial geniculate body: 1.75 ± 0.26; Auditory cortex: 2.52 ± 0.96, P < 0.01). These data suggest that the representation of isolated tone pulses is not significantly altered along the colliculo-thalamo-cortical axis, but that the fidelity of representation of temporally patterned signals progressively degrades along this axis. The degradation in Response fidelity allows the system to better extract the salient feature in complex amplitude-modulated signals.

Paolo Gasparini - One of the best experts on this subject based on the ideXlab platform.

  • next generation sequencing and animal models reveal slc9a3r1 as a new gene involved in human age related hearing loss
    Frontiers in Genetics, 2019
    Co-Authors: Giorgia Girotto, Anna Morgan, Navaneethakrishnan Krishnamoorthy, Massimiliano Cocca, Marco Brumat, Sissy Bassani, Martina La Bianca, Mariateresa Di Stazio, Paolo Gasparini
    Abstract:

    Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of ARHL, a large cohort of 464 Italian patients has been deeply characterized at clinical and molecular level. In particular, 46 candidate genes, selected on the basis of genome-wide association studies (GWAS), animal models and literature updates, were analyzed by targeted re-sequencing. After filtering and prioritization steps, SLC9A3R1 has been identified as a strong candidate and then validated by “in vitro” and “in vivo” studies. Briefly, a rare (MAF: 2.886e-5) missense variant c.539G>A, p.(R180Q) was detected in two unrelated male patients affected by ARHL characterised by a severe to profound high-frequency hearing loss. The variant, predicted as damaging, was not present in healthy matched controls. Protein modelling confirmed the pathogenic effect of p.(R180Q) variant on protein’s structure leading to a change in the total number of hydrogen bonds. In situ hybridization showed slc9a3r1 expression in zebrafish inner ear. A zebrafish knock-in model, generated by CRISPR-Cas9 technology, revealed a reduced Auditory Response at all frequencies in slc9a3r1R180Q/R180Q mutants compared to slc9a3r1+/+ and slc9a3r1+/R180Q animals. Moreover, a significant reduction (5.8%) in the total volume of the saccular otolith (which is responsible for sound detection) was observed in slc9a3r1R180Q/R180Q compared to slc9a3r1+/+ (P=0.0014), while the utricular otolith, necessary for balance, was not affected in agreement with the human phenotype. Overall, these data strongly support the role of SLC9A3R1 gene in the pathogenesis of ARHL opening new perspectives in terms of diagnosis, prevention and treatment.

  • Data_Sheet_2_Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss.PDF
    2019
    Co-Authors: Giorgia Girotto, Anna Morgan, Navaneethakrishnan Krishnamoorthy, Massimiliano Cocca, Marco Brumat, Sissy Bassani, Martina La Bianca, Mariateresa Di Stazio, Paolo Gasparini
    Abstract:

    Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of ARHL, a large cohort of 464 Italian patients has been deeply characterized at clinical and molecular level. In particular, 46 candidate genes, selected on the basis of genome-wide association studies (GWAS), animal models and literature updates, were analyzed by targeted re-sequencing. After filtering and prioritization steps, SLC9A3R1 has been identified as a strong candidate and then validated by “in vitro” and “in vivo” studies. Briefly, a rare (MAF: 2.886e-5) missense variant c.539G > A, p.(R180Q) was detected in two unrelated male patients affected by ARHL characterized by a severe to profound high-frequency hearing loss. The variant, predicted as damaging, was not present in healthy matched controls. Protein modeling confirmed the pathogenic effect of p.(R180Q) variant on protein’s structure leading to a change in the total number of hydrogen bonds. In situ hybridization showed slc9a3r1 expression in zebrafish inner ear. A zebrafish knock-in model, generated by CRISPR-Cas9 technology, revealed a reduced Auditory Response at all frequencies in slc9a3r1R180Q/R180Q mutants compared to slc9a3r1+/+ and slc9a3r1+/R180Q animals. Moreover, a significant reduction (5.8%) in the total volume of the saccular otolith (which is responsible for sound detection) was observed in slc9a3r1R180Q/R180Q compared to slc9a3r1+/+ (P = 0.0014), while the utricular otolith, necessary for balance, was not affected in agreement with the human phenotype. Overall, these data strongly support the role of SLC9A3R1 gene in the pathogenesis of ARHL opening new perspectives in terms of diagnosis, prevention and treatment.