Skip Content
You are currently on the new version of our website. Access the old version .

18 Results Found

  • Article
  • Open Access
812 Views
34 Pages

The Interaction of Target and Masker Speech in Competing Speech Perception

  • Sheyenne Fishero,
  • Joan A. Sereno and
  • Allard Jongman

Background/Objectives: Speech perception typically takes place against a background of other speech or noise. The present study investigates the effectiveness of segregating speech streams within a competing speech signal, examining whether cues such...

  • Article
  • Open Access
7 Citations
3,652 Views
15 Pages

23 May 2024

Auditory temporal processing is a vital component of auditory stream segregation, or the process in which complex sounds are separated and organized into perceptually meaningful objects. Temporal processing can degrade prior to hearing loss, and is s...

  • Article
  • Open Access
9 Citations
2,885 Views
14 Pages

The present study identifies the combined effects of aging and listening environment related factors, such as directionality, types of stimuli, and the presence of background noise. A total of 50 listeners with normal hearing (25 older adults and 25...

  • Data Descriptor
  • Open Access
5 Citations
5,056 Views
26 Pages

Expert-Annotated Dataset to Study Cyberbullying in Polish Language

  • Michal Ptaszynski,
  • Agata Pieciukiewicz,
  • Pawel Dybala,
  • Pawel Skrzek,
  • Kamil Soliwoda,
  • Marcin Fortuna,
  • Gniewosz Leliwa and
  • Michal Wroczynski

20 December 2023

We introduce the first dataset of harmful and offensive language collected from the Polish Internet. This dataset was meticulously curated to facilitate the exploration of harmful online phenomena such as cyberbullying and hate speech, which have exh...

  • Article
  • Open Access
3 Citations
4,116 Views
19 Pages

Investigating Neurophysiological, Perceptual, and Cognitive Mechanisms in Misophonia

  • Chhayakanta Patro,
  • Emma Wasko,
  • Prashanth Prabhu and
  • Nirmal Kumar Srinivasan

26 February 2025

Misophonia is a condition characterized by intense, involuntary distress or anger in response to specific sounds, often leading to irritation or aggression. While the condition is recognized for its emotional and behavioral impacts, little is known a...

  • Case Report
  • Open Access
6 Citations
2,276 Views
7 Pages

A Novel De Novo STAG1 Variant in Monozygotic Twins with Neurodevelopmental Disorder: New Insights in Clinical Heterogeneity

  • Lorenzo Cipriano,
  • Roberta Russo,
  • Immacolata Andolfo,
  • Mariangela Manno,
  • Raffaele Piscopo,
  • Achille Iolascon and
  • Carmelo Piscopo

9 September 2024

Background: The STAG1 gene encodes a component of the cohesin complex, involved in chromosome segregation and DNA repair. Variants in genes of the cohesin complex determine clinical conditions characterized by facial dysmorphisms, upper limb anomalie...

  • Article
  • Open Access
1,775 Views
23 Pages

In 1978, Brian Kernighan and Dennis Ritchie insisted that the first program to write in a new language is one to print the words “hello, world.” From then until now, “hello, world” has frequently been the first exercise in int...

  • Feature Paper
  • Article
  • Open Access
6 Citations
3,120 Views
12 Pages

The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)

  • Adil U Rehman,
  • Malaika Hamid,
  • Sher Alam Khan,
  • Muhammad Eisa,
  • Wasim Ullah,
  • Zia Ur Rehman,
  • Muzammil Ahmad Khan,
  • Sulman Basit,
  • Noor Muhammad and
  • Naveed Wasif
  • + 1 author

6 December 2022

Stuttering is a common neurodevelopment speech disorder that negatively affects the socio-psychological dimensions of people with disability. It displays many attributes of a complex genetic trait, and a few genetic loci have been identified through...

  • Case Report
  • Open Access
2 Citations
2,235 Views
9 Pages

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder

  • Anna Zsigmond,
  • Ágnes Till,
  • Judit Bene,
  • Márta Czakó,
  • Alexandra Mikó and
  • Kinga Hadzsiev

Heterozygous mutations in the FOXP1 gene (OMIM#605515) are responsible for a well-characterized neurodevelopmental syndrome known as “intellectual developmental disorder with language impairment with or without autistic features” (OMIM#61...

  • Article
  • Open Access
864 Views
12 Pages

Novel Biallelic INTS1 Variants May Expand the Phenotypic Spectrum of INTS1-Related Disorders—Case Report and Literature Review

  • Aleksandra Wnuk-Kłosińska,
  • Anna Sowińska-Seidler,
  • Michał Piechota and
  • Aleksander Jamsheer

15 September 2025

Background/Objectives: Neurodevelopmental disorders (NDDs) are genetically heterogeneous conditions with a complex molecular etiology involving numerous genes. Biallelic pathogenic variants in INTS1 cause a rare autosomal recessive NDD characterized...

  • Article
  • Open Access
1,473 Views
10 Pages

Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss

  • Nikoletta Nagy,
  • Ágnes Szalenko-Tőkés,
  • Margit Pál,
  • Barbara Anna Bokor,
  • Roland Nagy,
  • János András Jarabin,
  • László Róvó and
  • Márta Széll

13 February 2025

Autosomal dominant non-syndromic hearing loss (ADNSHL) is a genetically heterogenic condition. The transformation/transcription domain associated protein (TRRAP) gene has been recently associated with ADNSHL, and only four variants of the gene have s...

  • Article
  • Open Access
5 Citations
5,099 Views
12 Pages

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

  • Patricia Pascual,
  • Jair Tenorio-Castano,
  • Cyril Mignot,
  • Alexandra Afenjar,
  • Pedro Arias,
  • Natalia Gallego-Zazo,
  • Alejandro Parra,
  • Lucia Miranda,
  • Mario Cazalla and
  • Pablo Lapunzina
  • + 27 authors

23 August 2023

Snijders Blok–Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical features of patients with...

  • Article
  • Open Access
10 Citations
4,268 Views
31 Pages

Rapid Assessment of Non-Verbal Auditory Perception in Normal-Hearing Participants and Cochlear Implant Users

  • Agathe Pralus,
  • Ruben Hermann,
  • Fanny Cholvy,
  • Pierre-Emmanuel Aguera,
  • Annie Moulin,
  • Pascal Barone,
  • Nicolas Grimault,
  • Eric Truy,
  • Barbara Tillmann and
  • Anne Caclin

13 May 2021

In the case of hearing loss, cochlear implants (CI) allow for the restoration of hearing. Despite the advantages of CIs for speech perception, CI users still complain about their poor perception of their auditory environment. Aiming to assess non-ver...

  • Article
  • Open Access
1 Citations
2,598 Views
12 Pages

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family

  • Rabia Akram,
  • Haseeb Anwar,
  • Humaira Muzaffar,
  • Valentina Turchetti,
  • Tracy Lau,
  • Barbara Vona,
  • Ehtisham Ul Haq Makhdoom,
  • Javed Iqbal,
  • Shahid Mahmood Baig and
  • Henry Houlden
  • + 2 authors

13 September 2024

Background and objectives: Hereditary spastic paraplegia (HSP) is characterized by unsteady gait, motor incoordination, speech impairment, abnormal eye movement, progressive spasticity and lower limb weakness. Spastic paraplegia 75 (SPG75) results fr...

  • Article
  • Open Access
4 Citations
3,701 Views
22 Pages

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

  • Alba-Aina Castells,
  • Rafel Balada,
  • Alba Tristán-Noguero,
  • Mar O’Callaghan,
  • Elisenda Cortès-Saladelafont,
  • Ainhoa Pascual-Alonso,
  • Àngels Garcia-Cazorla,
  • Judith Armstrong and
  • Soledad Alcántara

Methyl-CpG-binding protein 2 (MeCP2) is an X-linked epigenetic modulator whose dosage is critical for neural development and function. Loss-of-function mutations in MECP2 cause Rett Syndrome (RTT, OMIM #312750) while duplications in the Xq28 locus co...

  • Case Report
  • Open Access
7 Citations
3,862 Views
10 Pages

8 June 2023

The RTTN gene encodes centriole biogenesis, replication, symmetry and cohesion, basal body organization and has recently been associated with the appearance of microcephaly syndromes. RTTN-related neurological defects including microcephaly, intellec...

  • Article
  • Open Access
957 Views
13 Pages

Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants

  • Burcu Yeter,
  • Yasemin Kendir Demirkol,
  • Esra Usluer,
  • İpek Görüşen Kavak,
  • Sena Gjota Ergin and
  • Nursel H. Elçioğlu

23 September 2025

Background/Objectives: Autosomal recessive primary microcephaly is a rare and genetically heterogeneous disorder characterized by congenital non-syndromic microcephaly, with at least 28 causative genes identified to date. Biallelic variants in the CD...

  • Article
  • Open Access

3 February 2026

Developmental dyslexia (DD) often involves difficulties in phonological processing of speech. Objectives: While underlying neural changes have been identified in terms of stimulus- and task-related responses within specific brain regions and their ne...