Review
Biochemistry & Molecular Biology
Joery den Hoed, Karthikeyan Devaraju, Simon E. Fisher
Summary: The discovery of the FOXP2 transcription factor has sparked two decades of empirical studies on its roles in the brain related to speech and language disorders. This research has provided insights into the regulation of FOXP2, its downstream effectors, and its modes of action as a transcription factor in brain development and function.
Article
Clinical Neurology
Maiara Lais Mallmann Kieling, Alessandro Finkelsztejn, Viviana Regina Konzen, Vanessa Brzoskowski dos Santos, Annelise Ayres, Iasmin Klein, Rui Rothe-Neves, Maira Rozenfeld Olchik
Summary: The study aimed to describe the speech pattern in Multiple Sclerosis (MS) patients and correlate it with clinical data and compare it with a control group. The results showed that 72.6% of MS patients had mild dysarthria, with alterations in the phonation, breathing, resonance, and articulation subsystems of speech. Acoustic analysis revealed that MS patients performed significantly worse than the control group in variables such as standard deviation of the fundamental frequency and maximum phonation time. Additionally, MS patients had a lower number of syllables, duration, and phonation time in diadochokinesis and a higher number of pauses in spontaneous speech, which correlated with the severity of the disease.
FRONTIERS IN NEUROLOGY
(2023)
Article
Audiology & Speech-Language Pathology
Camille J. Wynn, Elizabeth R. Josephson, Stephanie A. Borrie
Summary: According to a study, individuals with autism lack the ability and/or motivation to tune their speech as precisely as neurotypical individuals. Previous studies using perceptual measures have yielded contrasting results. This study used an objective acoustic measure to find that autistic individuals have reduced articulatory precision compared to neurotypical individuals, regardless of age.
JOURNAL OF SPEECH LANGUAGE AND HEARING RESEARCH
(2022)
Article
Multidisciplinary Sciences
Mahmuda Akter, Sumaiya Farah Khan, Abu Ashfaqur Sajib, Fahmida Sultana Rima
Summary: This study aimed to identify missense SNPs in FOXP2 protein that have detrimental structural and functional effects. Multiple computational tools were used to investigate the deleterious role of non-synonymous SNPs. Five variants associated with diseases were found, and two mutant variants were predicted to disrupt protein structure and reduce binding specificity and affinity.
Article
Biology
Chris Code
Summary: This paper discusses how symptoms in speech and language processing following brain damage can contribute to discussions of early language evolution. It suggests that the recovery of non-fluent aphasia syndrome post-stroke may provide insights into human language evolution history, and argues that the observed recovery reflects processes in human speech and language development.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2021)
Article
Audiology & Speech-Language Pathology
Janet Vuolo
Summary: This multiple case pilot study explores the influence of nonword imitation on articulatory and segmental performance in children with and without speech disorder. The results suggest that motor practice with minimal feedback and no assignment of a lexical referent can lead to positive changes in segmental performance for children without apraxia. However, positive changes in segmental performance are not necessarily related to increased articulatory control.
CLINICAL LINGUISTICS & PHONETICS
(2023)
Article
Multidisciplinary Sciences
Sara Boegels, Stephen C. Levinson
Summary: Research suggests that speech planning in conversational turn-taking can overlap with the previous turn and start as soon as the gist of the previous turn becomes clear. This study investigated whether planning continues until the last stage of articulatory preparation and the timing of this process. Results showed that planning could start early or late depending on the quiz question, and speech planning in overlap with the current turn proceeds more slowly than in a clear turn. However, articulatory preparation can occur in advance and is not fully tied to the overt response itself.
Article
Neurosciences
Francesco Tomaiuolo, Serena Campana, Loredana Voci, Stefano Lasaponara, Fabrizio Doricchi, Michael Petrides
Summary: This study reports four patients with pure speech apraxia, with critical lesions in specific brain areas in the left hemisphere. The damage is primarily located in the insula, adjacent subcentral opercular cortex, and the most inferior part of the central sulcus.
Article
Multidisciplinary Sciences
Isabelle Peretz, Jay Ross, Cynthia Bourassa, Louis-Philippe Lemieux Perreault, Patrick A. Dion, Michael W. Weiss, Mihaela Felezeu, Guy A. Rouleau, Marie-Pierre Dube
Summary: This study examines the association between variants in the FOXP2 gene and congenital amusia, and finds that FOXP2 variants are not related to amusia. This has implications for distinguishing between musicality and language.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2022)
Article
Health Care Sciences & Services
Anna Maria Chilosi, Irina Podda, Ivana Ricca, Alessandro Comparini, Beatrice Franchi, Simona Fiori, Rosa Pasquariello, Claudia Casalini, Paola Cipriani, Filippo Maria Santorelli
Summary: Childhood apraxia of speech (CAS) is often accompanied by language impairment and other neurodevelopmental disorders. Clinical features include impaired expressive grammar and speech alterations similar to the core symptoms of CAS. Children with complex comorbidities also exhibit more severe and persistent receptive language deficits. Some participants carry copy number variations (CNVs) associated with neurodevelopmental disorders. Multidimensional diagnostic and clinical management, as well as personalized treatment approaches, are necessary.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Pediatrics
Orsolya Nagy, Judit Karteszi, Beatrix Elmont, Aniko Ujfalusi
Summary: Pathogenic variants of the FOXP2 gene can cause childhood apraxia of speech, characterized by impairments in speech motor planning and programming. Variants include single nucleotide changes, large deletions, and disruptions by structural chromosomal aberrations, leading to a range of speech and language disorders with associated developmental and behavioral disturbances.
FRONTIERS IN PEDIATRICS
(2021)
Article
Behavioral Sciences
Francesca Pisano, Carlo Caltagirone, Chiara Incoccia, Paola Marangolo
Summary: Research has demonstrated that transpinal direct current stimulation combined with language training can improve accuracy in repeating treated items for patients with speech apraxia, with effects persisting and generalizing to other oral language tasks. This suggests that spinal stimulation may offer a new innovative approach for language rehabilitation.
BEHAVIOURAL BRAIN RESEARCH
(2021)
Article
Audiology & Speech-Language Pathology
Liziane Bouvier, Laura Monetta, Vincent Martel-Sauvageau
Summary: This study investigated the ability of participants with PPAOS to increase speech rate and the interaction between articulatory accuracy and speech rate, finding slower speech rate and reduced articulatory accuracy in PPAOS speakers compared to healthy speakers. It also revealed that articulatory complexity influences speech rate, but the impact on articulatory accuracy varies greatly across individuals with PPAOS.
CLINICAL LINGUISTICS & PHONETICS
(2022)
Review
Pediatrics
Hayley S. Mountford, Ruth Braden, Dianne F. Newbury, Angela T. Morgan
Summary: Language disorders are influenced by genetic and environmental factors, and this review provides an overview of the genetic landscape of developmental language disorders (DLD). It emphasizes the importance of defining the specific features of DLD in order to inform gene discovery. The review also explores the recently identified gene pathways in populations with DLD and discusses the potential for epigenetics and environmental interactions to unravel the biological basis of language disorders.
Review
Audiology & Speech-Language Pathology
Meghan Littlejohn, Edwin Maas
Summary: This paper examines speech sound disorders through the lens of two well-developed models of production, providing a more detailed conceptualization and encouraging consideration of underlying processes. It suggests that broad diagnostic labels may comprise different subtypes or profiles, highlighting the importance of evaluating and treating different issues and processing stages.
INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS
(2023)
Article
Endocrinology & Metabolism
Daniel E. Platt, Michella Ghassibe-Sabbagh, Pascale Salameh, Angelique K. Salloum, Marc Haber, Francis Mouzaya, Dominique Gauguier, Yasser Al-Sarraj, Hatem El-Shanti, Pierre A. Zalloua, Antoine B. Abchee
ANNALS OF NUTRITION AND METABOLISM
(2016)
Article
Immunology
Taha Moussa, Buthaina Aladbe, Rowaida Z. Taha, Elaine F. Remmers, Hatem El-Shanti, Basil M. Fathalla
JOURNAL OF CLINICAL IMMUNOLOGY
(2015)
Review
Medicine, Research & Experimental
Hatem El Shanti, Lotfi Chouchane, Ramin Badii, Imed Eddine Gallouzi, Paolo Gasparini
JOURNAL OF TRANSLATIONAL MEDICINE
(2015)
Article
Genetics & Heredity
Lily Paemka, Vinit B. Mahajan, Salleh N. Ehaideb, Jessica M. Skeie, Men Chee Tan, Shu Wu, Allison J. Cox, Levi P. Sowers, Jozef Gecz, Lachlan Jolly, Polly J. Ferguson, Benjamin Darbro, Amy Schneider, Ingrid E. Scheffer, Gemma L. Carvill, Heather C. Mefford, Hatem El-Shanti, Stephen A. Wood, J. Robert Manak, Alexander G. Bassuk
Article
Clinical Neurology
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C. Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A. Gahl, Alexander G. Bassuk, May Christine V. Malicdan, Hatem El-Shanti
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2017)
Article
Genetics & Heredity
Djouher Ait-Idir, Bahia Djerdjouri, Faiza Bouldjennet, Rowaida Z. Taha, Hatem El-Shanti, Rawda Sari-Hamidou, Ghalia Khellaf, Mustapha Benmansour, Mohamed Benabadji, Farid Haddoum
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2017)
Article
Genetics & Heredity
Smail Hadj-Rabia, Gaelle Brideau, Yasser Al-Sarraj, Rachid C. Maroun, Marie-Lucile Figueres, Stephanie Leclerc-Mercier, Eric Olinger, Stephanie Baron, Catherine Chaussain, Dominique Nochy, Rowaida Z. Taha, Bertrand Knebelmann, Vandana Joshi, Patrick A. Curmi, Marios Kambouris, Rosa Vargas-Poussou, Christine Bodemer, Olivier Devuyst, Pascal Houillier, Hatem El-Shanti
GENETICS IN MEDICINE
(2018)
Article
Endocrinology & Metabolism
Daniel E. Platt, Essa Hariri, Pascale Salameh, Mahmoud Merhi, Nada Sabbah, Mariana Helou, Francis Mouzaya, Rita Nemer, Yasser Al-Sarraj, Hatem El-Shanti, Antoine B. Abchee, Pierre A. Zalloua
DIABETOLOGY & METABOLIC SYNDROME
(2017)
Article
Genetics & Heredity
Atteeq U. Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al-Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V. Hunter, Zeineb Bakey, Mari J. Tokita, Weimin He, Francesco Vetrini, Andrea Petersen, Federico A. Santoni, Hanan Hamamy, Kaman Wu, Fatma Al-Jasmi, Martin Helmstaedter, Sebastian J. Arnold, Fan Xia, Christopher Richmond, Pengfei Liu, Ehsan Ghayoor Karimiani, GholamReza Karami Madani, Sebastian Lunke, Hatem El-Shanti, Christine M. Eng, Stylianos E. Antonarakis, Jozef Hertecant, Magdalena Walkiewicz, Yaping Yang, Miriam Schmidts
Review
Biochemistry & Molecular Biology
Polly J. Ferguson, Hatem El-Shanti
Summary: Majeed syndrome is a rare inflammatory disorder caused by mutations in the LPIN2 gene. It presents with multi-system symptoms, bone abnormalities, and variable phenotypic expression. Studies suggest that lipin-2 plays a critical role in controlling homeostasis and bone health.
Article
Genetics & Heredity
Yasser Al-Sarraj, Eman Al-Dous, Rowaida Z. Taha, Dina Ahram, Fouad Alshaban, Mohammed Tolfat, Hatem El-Shanti, Omar M. E. Albagha
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental disease with genetic factors playing a crucial role. A GWAS in the Middle Eastern population of Qatar identified multiple genetic loci associated with ASD, some near genes implicated in ASD or related neurodevelopmental disorders. Further functional studies and replication are needed to better understand the genetic architecture of ASD.
Article
Endocrinology & Metabolism
Abhimanyu Garg, Hatem El-Shanti, Chao Xing, Zhengyang Zhou, Mousa Abujbara, Khadeja Al-Rashed, Mohammed El-Khateeb, Kamel Ajlouni, Anil K. Agarwal
JOURNAL OF THE ENDOCRINE SOCIETY
(2020)
Review
Pediatrics
Ilhan Hekimsoy, Mehmet Argin, Betul Sozeri
GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS
(2017)
Article
Medicine, Research & Experimental
Faris G. Bakri, Marwan H. Adwan, Hatem El-Shanti
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE
(2017)
Article
Medicine, General & Internal
Manar Al-lawama, Jumana Albaramki, Mutaz Altamimi, Hatem El-Shanti
CLINICAL CASE REPORTS
(2019)