Dataset Information

A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.

ABSTRACT: Despite the apparent robustness of language learning in humans, a large number of children still fail to develop appropriate language skills despite adequate means and opportunity. Most cases of language impairment have a complex etiology, with genetic and environmental influences. In contrast, we describe a three-generation German family who present with an apparently simple segregation of language impairment. Investigations of the family indicate auditory processing difficulties as a core deficit. Affected members performed poorly on a nonword repetition task and present with communication impairments. The brain activation pattern for syllable duration as measured by event-related brain potentials showed clear differences between affected family members and controls, with only affected members displaying a late discrimination negativity. In conjunction with psychoacoustic data showing deficiencies in auditory duration discrimination, the present results indicate increased processing demands in discriminating syllables of different duration. This, we argue, forms the cognitive basis of the observed language impairment in this family. Genome-wide linkage analysis showed a haplotype in the central region of chromosome 12 which reaches the maximum possible logarithm of odds ratio (LOD) score and fully co-segregates with the language impairment, consistent with an autosomal dominant, fully penetrant mode of inheritance. Whole genome analysis yielded no novel inherited copy number variants strengthening the case for a simple inheritance pattern. Several genes in this region of chromosome 12 which are potentially implicated in language impairment did not contain polymorphisms likely to be the causative mutation, which is as yet unknown.

SUBMITTER: Addis L

PROVIDER: S-EPMC2948670 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.

Addis L L Friederici A D AD Kotz S A SA Sabisch B B Barry J J Richter N N Ludwig A A AA Rübsamen R R Albert F W FW Pääbo S S Newbury D F DF Monaco A P AP

Genes, brain, and behavior 20100325 6

Despite the apparent robustness of language learning in humans, a large number of children still fail to develop appropriate language skills despite adequate means and opportunity. Most cases of language impairment have a complex etiology, with genetic and environmental influences. In contrast, we describe a three-generation German family who present with an apparently simple segregation of language impairment. Investigations of the family indicate auditory processing difficulties as a core defi ...[more]

PMID: 20345892

Similar Datasets

Project description:BackgroundFrequency discrimination is often impaired in children developing language atypically. However, findings in the detection of small frequency changes in these children are conflicting. Previous studies on children's auditory perceptual abilities usually involved establishing differential sensitivity thresholds in sample populations who were not tested for auditory deficits. To date, there are no data comparing suprathreshold frequency discrimination ability in children tested for both auditory processing and language skills.Purpose: This study examined the perception of small frequency differences (∆ƒ) in children with auditory processing disorder (APD) and/or specific language impairment (SLI). The aim was to determine whether children with APD and children with SLI showed differences in their behavioral responses to frequency changes. Results were expected to identify different degrees of impairment and shed some light on the auditory perceptual overlap between pediatric APD and SLI.Research designAn experimental group design using a two-alternative forced-choice procedure was used to determine frequency discrimination ability for three magnitudes of ∆ƒ from the 1000-Hz base frequency.Study sampleThirty children between 10 years of age and 12 years, 11 months of age: 17 children with APD and/or SLI, and 13 typically developing (TD) peers participated. The clinical groups included four children with APD only, four children with SLI only, and nine children with both APD and SLI.Data collection and analysisBehavioral data collected using headphone delivery were analyzed using the sensitivity index d', calculated for three ∆ƒ was 2%, 5%, and 15% of the base frequency or 20, 50, and 150 Hz. Correlations between the dependent variable d' and the independent variables measuring auditory processing and language skills were also obtained. A stepwise regression analysis was then performed.ResultsTD children and children with APD and/or SLI differed in the detection of small-tone ∆ƒ. In addition, APD or SLI status affected behavioral results differently. Comparisons between auditory processing test scores or language test scores and the sensitivity index d' showed different strengths of correlation based on the magnitudes of the ∆ƒ. Auditory processing scores showed stronger correlation to the sensitivity index d' for the small ∆ƒ, while language scores showed stronger correlation to the sensitivity index d' for the large ∆ƒ.ConclusionAlthough children with APD and/or SLI have difficulty with behavioral frequency discrimination, this difficulty may stem from two different levels: a basic auditory level for children with APD and a higher language processing level for children with SLI; the frequency discrimination performance seemed to be affected by the labeling demands of the same versus different frequency discrimination task for the children with SLI.

Project description:OBJECTIVE:The strength of presurgical language mapping using electrocorticography (ECoG) is its outstanding signal fidelity and temporal resolution, but the weakness includes limited spatial sampling at an individual patient level. By averaging naming-related high-gamma activity at nonepileptic regions across a large number of patients, we provided the functional cortical atlases animating the neural dynamics supporting visual-object and auditory-description naming at the whole brain level. METHODS:We studied 79 patients who underwent extraoperative ECoG recording as epilepsy presurgical evaluation, and generated time-frequency plots and animation videos delineating the dynamics of naming-related high-gamma activity at 70-110 Hz. RESULTS:Naming task performance elicited high-gamma augmentation in domain-specific lower-order sensory areas and inferior-precentral gyri immediately after stimulus onset. High-gamma augmentation subsequently involved widespread neocortical networks with left hemisphere dominance. Left posterior temporal high-gamma augmentation at several hundred milliseconds before response onset exhibited a double dissociation; picture naming elicited high-gamma augmentation preferentially in regions medial to the inferior-temporal gyrus, whereas auditory naming elicited high-gamma augmentation more laterally. The left lateral prefrontal regions including Broca's area initially exhibited high-gamma suppression subsequently followed by high-gamma augmentation at several hundred milliseconds before response onset during both naming tasks. Early high-gamma suppression within Broca's area was more intense during picture compared to auditory naming. Subsequent lateral-prefrontal high-gamma augmentation was more intense during auditory compared to picture naming. SIGNIFICANCE:This study revealed contrasting characteristics in the spatiotemporal dynamics of naming-related neural modulations between tasks. The dynamic atlases of visual and auditory language might be useful for planning of epilepsy surgery. Differential neural activation well explains some of the previously reported observations of domain-specific language impairments following resective epilepsy surgery. Video materials might be beneficial for the education of lay people about how the brain functions differentially during visual and auditory naming.

Dataset Information

A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.

Publications

A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets