Статті в журналах: "Speech Phenotype"

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Carrigg, Bronwyn, Louise Parry, Elise Baker, Lawrence D. Shriberg, and Kirrie J. Ballard. "Cognitive, Linguistic, and Motor Abilities in a Multigenerational Family with Childhood Apraxia of Speech." Archives of Clinical Neuropsychology 31, no. 8 (November 24, 2016): 1006–25. http://dx.doi.org/10.1093/arclin/acw077.

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Abstract Objective This study describes the phenotype in a large family with a strong, multigenerational history of severe speech sound disorder (SSD) persisting into adolescence and adulthood in approximately half the cases. Aims were to determine whether a core phenotype, broader than speech, separated persistent from resolved SSD cases; and to ascertain the uniqueness of the phenotype relative to published cases. Method Eleven members of the PM family (9–55 years) were assessed across cognitive, language, literacy, speech, phonological processing, numeracy, and motor domains. Between group comparisons were made using the Mann–WhitneyU-test (p < 0.01). Participant performances were compared to normative data using standardized tests and to the limited published data on persistent SSD phenotypes. Results Significant group differences were evident on multiple speech, language, literacy, phonological processing, and verbal intellect measures without any overlapping scores. Persistent cases performed within the impaired range on multiple measures. Phonological memory impairment and subtle literacy weakness were present in resolved SSD cases. Conclusion A core phenotype distinguished persistent from resolved SSD cases that was characterized by a multiple verbal trait disorder, including Childhood Apraxia of Speech. Several phenotypic differences differentiated the persistent SSD phenotype in the PM family from the few previously reported studies of large families with SSD, including the absence of comorbid dysarthria and marked orofacial apraxia. This study highlights how comprehensive phenotyping can advance the behavioral study of disorders, in addition to forming a solid basis for future genetic and neural studies.

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Zanaboni, Martina Paola, Ludovica Pasca, Barbara Valeria Villa, Antonella Faggio, Serena Grumi, Livio Provenzi, Costanza Varesio, and Valentina De Giorgis. "Characterization of Speech and Language Phenotype in GLUT1DS." Children 8, no. 5 (April 27, 2021): 344. http://dx.doi.org/10.3390/children8050344.

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Background: To analyze the oral motor, speech and language phenotype in a sample of pediatric patients with GLUT 1 transporter deficiency syndrome (GLUT1DS). Methods: eight Italian-speaking children with GLUT1DS (aged 4.6–15.4 years) in stable treatment with ketogenic diet from a variable time underwent a specific and standardized speech and language assessment battery. Results: All patients showed deficits with different degrees of impairment in multiple speech and language areas. In particular, orofacial praxis, parallel and total movements were the most impaired in the oromotor domain; in the speech domain patients obtained a poor performance in the diadochokinesis rate and in the repetition of words that resulted as severely deficient in seven out of eight patients; in the language domain the most affected abilities were semantic/phonological fluency and receptive grammar. Conclusions: GLUT1DS is associated to different levels of speech and language impairment, which should guide diagnostic and therapeutic intervention. Larger population data are needed to identify more precisely a speech and language profile in GLUT1DS patients.

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Todorović, Jelena, Dragan Pavlović, Mirna Zelić, and Lana Jerkić. "Cognitive phenotype in neurofibromatosis type 1." Engrami 42, no. 2 (2020): 69–79. http://dx.doi.org/10.5937/engrami41-28271.

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Neurofibromatoses are a set of different genetic disorders that have a common characteristic of the appearance of nervous system tumors. There are three forms of the disease, of which type 1 neurofibromatosis (NF 1) is the most common. NF 1 is an inherited autosomal-dominant disease, with a high rate of new mutations. In addition to the many physical manifestations and complications that occur in persons with NF 1, there are also numerous cognitive difficulties, including lower general intellectual functioning, learning difficulties, but also problems in attention, visual abilities, executive functions, and speech. Attention disorders are up to three times more common in people with NF 1, while learning disabilities are present in more than half of these subjects. Disturbances in the field of visuospatial perception are recognisable even in the preschool period. About 80% of children with NF1 exhibit various speech and language disorders: slow early speech development, slower vocabulary enrichment, syntactic, semantic and phonological speech disorders. Disruption of executive functions will manifest itself in the areas of working memory, organisation, planning / problem solving. This will reflect as the underperformance in academic achievement. Nearly one-third of these persons have emotional and social problems.

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Kirk, Beth, Mira Kharbanda, Mark S. Bateman, David Hunt, Emma-Jane Taylor, Amanda L. Collins, David J. Bunyan, et al. "Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region." Cytogenetic and Genome Research 160, no. 4 (2020): 185–92. http://dx.doi.org/10.1159/000507409.

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A phenotype is emerging for the proximal pair of G-dark bands in 11q (11q14.1 and q14.3) but not yet for the distal pair (11q22.1 and q22.3). A mother and daughter with the same directly transmitted 12.3-Mb interstitial deletion of 11q21q22.3 (GRCh37: 93,551,765-105,817,723) both had initial feeding difficulties and failure to thrive, speech delay, learning difficulties, and mild dysmorphism. Among 17 patients with overlapping deletions, developmental or speech delay, dysmorphism, hypotonia, intellectual disability or learning difficulties, short stature, and coloboma were each found in 2 or more. These results may provide the basis for a consistent phenotype for this region. Among the 53 deleted and additional breakpoint genes, CNTN5, YAP1, and GRI4 were the most likely candidates. Non-penetrance of haploinsufficient genes and dosage compensation among related genes may account for the normal cognition in the mother and variable phenotypes that can extend into the normal range.

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Boyce, Jessica O., Supriya Raj, Katherine Sanchez, Mary L. Marazita, Angela T. Morgan, and Nicky Kilpatrick. "Speech Phenotyping in Unaffected Family Members of Individuals With Nonsyndromic Cleft Lip With or Without Palate." Cleft Palate-Craniofacial Journal 56, no. 7 (January 29, 2019): 867–76. http://dx.doi.org/10.1177/1055665618823936.

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Objective: Subclinical phenotypes of nonsyndromic cleft lip with or without cleft palate (CL ± P) may be identified from clinically “unaffected” relatives and could be associated with specific cleft-related gene mutations. It has been hypothesized that velopharyngeal insufficiency (VPI) may be a subclinical phenotype of interest in this population, but this has not been explored quantitatively with appropriate control cohorts. The aim of this case–control study was to compare VPI in at-risk clinically unaffected relatives of individuals with nonsyndromic CL ± P with a low-risk matched normative Australian cohort. Participants: Clinically unaffected (ie, with no overt cleft) first-degree relatives of a proband with nonsyndromic CL ± P (n = 189) and noncleft controls (n = 207). Main Outcome Measure(s): Perceptual measures of VPI encompassing resonance, nasal emission, and articulation were evaluated using the Great Ormond Street Speech Assessment. Quantitative measures of VPI were obtained from the Nasometer II using standardized adult and pediatric speech stimuli. Results: Both perceptual and instrumental measures showed no significant difference ( P > .01) between the VPI in unaffected relatives and the noncleft comparison group. Mean nasalance scores for both groups were calculated and reported according to speech stimuli, age, and sex. Conclusions: Results suggest that VPI, measured through speech, is not a significant subclinical phenotype of nonsyndromic CL ± P. Therefore, further familial genetic investigations exploring VPI may not yield meaningful results. Exploration across multiple subclinical phenotypes in larger cohorts may enable researchers to better understand the multifaceted nature of this complex and heterogeneous anomaly.

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Burd, Larry. "Language and Speech in Tourette Syndrome: Phenotype and Phenomenology." Current Developmental Disorders Reports 1, no. 4 (August 27, 2014): 229–35. http://dx.doi.org/10.1007/s40474-014-0027-1.

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Haapanen, Marjut, Kasper Katisko, Tuomo Hänninen, Johanna Krüger, Päivi Hartikainen, Annakaisa Haapasalo, Anne M. Remes, and Eino Solje. "C9orf72 Repeat Expansion Does Not Affect the Phenotype in Primary Progressive Aphasia." Journal of Alzheimer's Disease 78, no. 3 (November 24, 2020): 919–25. http://dx.doi.org/10.3233/jad-200795.

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Primary progressive aphasia (PPA) forms the spectrum of language variants of frontotemporal lobar degeneration (FTLD), including three subtypes each consisting of distinctive speech and language features. Repeat expansion in C9orf72 gene is the most common genetic cause of FTLD. However, thus far only little is known about the effects of the C9orf72 repeat expansion on the phenotype of PPA. This retrospective study aimed at determining the differences between the PPA phenotypes of the C9orf72 expansion carriers and non-carriers. Our results demonstrated no significant differences between these groups, indicating that the C9orf72 repeat expansion does not substantially affect the phenotype of PPA.

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Turner, Samantha J., Amy Brown, Marta Arpone, Vicki Anderson, Angela T. Morgan, and Ingrid E. Scheffer. "Dysarthria and broader motor speech deficits in Dravet syndrome." Neurology 88, no. 8 (February 1, 2017): 743–49. http://dx.doi.org/10.1212/wnl.0000000000003635.

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Objective:To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations in SCN1A.Methods:Fifteen verbal and 5 minimally verbal DS patients with SCN1A mutations (aged 15 months-28 years) underwent a tailored assessment battery.Results:Speech was characterized by imprecise articulation, abnormal nasal resonance, voice, and pitch, and prosody errors. Half of verbal patients had moderate to severely impaired conversational speech intelligibility. Oral motor impairment, motor planning/programming difficulties, and poor postural control were typical. Nonverbal individuals had intentional communication. Cognitive skills varied markedly, with intellectual functioning ranging from the low average range to severe intellectual disability. Language impairment was congruent with cognition.Conclusions:We describe a distinctive speech, language, and oral motor phenotype in children and adults with DS associated with mutations in SCN1A. Recognizing this phenotype will guide therapeutic intervention in patients with DS.

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Yang, Lili, Xiaoli Shu, Shujiong Mao, Yi Wang, Xiaonan Du, and Chaochun Zou. "Genotype–Phenotype Correlations in Angelman Syndrome." Genes 12, no. 7 (June 28, 2021): 987. http://dx.doi.org/10.3390/genes12070987.

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Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the chromosome 15q11–13 region. AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy disposition, ataxia, epilepsy, and distinct behavioral profile. There are four molecular mechanisms of etiology: maternal deletion of chromosome 15q11–q13, paternal uniparental disomy of chromosome 15q11–q13, imprinting defects, and maternally inherited UBE3A mutations. Different genetic types may show different phenotypes in performance, seizure, behavior, sleep, and other aspects. AS caused by maternal deletion of 15q11–13 appears to have worse development, cognitive skills, albinism, ataxia, and more autistic features than those of other genotypes. Children with a UBE3A mutation have less severe phenotypes and a nearly normal development quotient. In this review, we proposed to review genotype–phenotype correlations based on different genotypes. Understanding the pathophysiology of the different genotypes and the genotype–phenotype correlations will offer an opportunity for individualized treatment and genetic counseling. Genotype–phenotype correlations based on larger data should be carried out for identifying new treatment modalities.

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Efthymiou, Stephanie, Vincenzo Salpietro, Conceicao Bettencourt, and Henry Houlden. "Paroxysmal Movement Disorder and Epilepsy Caused by a De Novo Truncating Mutation in KAT6A." Journal of Pediatric Genetics 07, no. 03 (June 14, 2018): 114–16. http://dx.doi.org/10.1055/s-0038-1651526.

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AbstractMutations in KAT6A encoding a histone acetyltransferase involved in chromatin remodeling and in other genes involved in histone acetylation and/or deacetylation have been implicated in broad phenotypes of congenital and developmental abnormalities. However, limited genotype–phenotype correlations are available for some of the most rare or recently reported genetic disorders related to chromatin dysregulation. We hereby report a de novo truncating mutation in KAT6A (c.3338C > G; p.S1113X) in a young male patient with intellectual disability associated with impaired speech and autistic features, who also presented with infantile seizures and a complex movement disorder phenotype with paroxysmal episodes of abnormal startle responses.

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Brignell, Amanda, Conway Gu, Alison Holm, Bronwyn Carrigg, Daisy A. Sheppard, David J. Amor, and Angela T. Morgan. "Correction: Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome." European Journal of Human Genetics 29, no. 4 (March 15, 2021): 719. http://dx.doi.org/10.1038/s41431-021-00855-4.

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Shriberg, Lawrence D., Barbara A. Lewis, J. Bruce Tomblin, Jane L. McSweeny, Heather B. Karlsson, and Alison R. Scheer. "Toward Diagnostic and Phenotype Markers for Genetically Transmitted Speech Delay." Journal of Speech, Language, and Hearing Research 48, no. 4 (August 2005): 834–52. http://dx.doi.org/10.1044/1092-4388(2005/058).

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Kinter, Sara, Katelyn Kotlarek, Anna Meehan, and Carrie Heike. "Characterising the speech phenotype in individuals with craniofacial microsomia: a scoping review protocol." BMJ Open 13, no. 2 (February 2023): e069233. http://dx.doi.org/10.1136/bmjopen-2022-069233.

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IntroductionAsymmetric mandibular hypoplasia, microtia, tongue and laryngeal anomalies, and soft palate and facial nerve dysfunction are clinical features observed in children with craniofacial microsomia (CFM). Despite involvement of all these structures in hearing and speech, there is limited evidence reporting speech outcomes in this population. Systematic reviews of clinical and surgical interventions related to CFM have been published, but no methodological review of speech outcomes exists. This scoping review will summarise what is known about speech production in individuals with CFM as well as illustrate gaps in the existing body of literature that will guide future research.Methods/analysisThis review will follow the methodological framework for scoping reviews first reported by Arksey & O’Malley and revised by Levac and others. Databases searched will include Ovid MEDLINE, EMBASE, CINAHL, PsycINFO and grey literature. Articles reporting any parameter of speech production in individuals with CFM will be considered for inclusion. Articles published in a language other than English will be excluded. Articles will be screened in three stages: (1) title review, (2) abstract review and (3) full text review. Ten per cent of articles will be rescreened by a second reviewer. Reference lists will be hand reviewed to identify additional relevant articles. Data charting will capture article metadata, study population and design, CFM diagnostic criteria, speech outcome measurement and key findings. The Preferred Reporting Systems for Systematic Reviews and Meta-Analyses Protocols-Extension for Scoping Reviews checklist will guide reporting of results. Descriptive analysis and data visualisation strategies will be used.Ethics and disseminationInstitutional review board approval is not required for a scoping review, as it does not directly involve human subjects. Results will be disseminated through peer-reviewed publication as well as conference presentation.

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Van Zuijlen, Diederick A., Patrick L. M. Huygen, Els M. R. De Leenheer, Lut Van Laer, Egbert H. Huizing, Guy Van Camp, and W. R. J. Cremers. "Further Delineation of the DFNA5 Phenotype: Results of Speech Recognition Tests." Annals of Otology, Rhinology & Laryngology 111, no. 7 (July 2002): 639–41. http://dx.doi.org/10.1177/000348940211100712.

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Speech recognition scores were analyzed in 34 carriers of a DFNA5 mutation. Cross-sectional linear regression analysis (last visit, maximum recognition score in %Correct on age or PTA1,2,4 kHz) established onset age (score 90%) at 16 years and onset PTA1,2,4 kHz level (score 90%) at 41 dB hearing level. The deterioration rate was 0.7%/y in the plot of maximum score against age, whereas the deterioration gradient was 0.4%/dB in the plot of maximum score against PTA1,2,4 kHz. Given the previously demonstrated rapid progression of hearing impairment, speech recognition was relatively good: at age 70, the score was still >50%.

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Stager, Sheila V., Frances J. Freeman, and Allen Braun. "Characteristics of Fluency and Speech in Two Families With High Incidences of Stuttering." Journal of Speech, Language, and Hearing Research 58, no. 5 (October 2015): 1440–51. http://dx.doi.org/10.1044/2015_jslhr-s-14-0080.

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Purpose This study presents data from 2 families with high incidence of stuttering, comparing methods of phenotype assignment and exploring the presence of other fluency disorders and corresponding speech characteristics. Method Three methods for assigning phenotype of stuttering were used: self-identification, family identification, and expert identification. Agreement on which individuals were assigned by each of these methods was studied. Multiple measures of fluency and speech production were obtained. Results Self-reports and descriptions of blocking rather than self-identification as a person who stutters demonstrated the best agreement with expert identification of stuttering. Family identification showed poor agreement with both expert and self-identification of stuttering. Using binary categories of fluent or stuttering, 90% of individuals in 1 family were classified by expert consensus. Only 70% of the other family could be similarly categorized. Experts required 2 other categories, cluttering and other fluency disorders, to fully characterize dysfluency within this family. These 2 families also demonstrated differences in speech production. Conclusion Some families with high incidence of stuttering may also have high incidence of other fluency disorders and other speech-production difficulties. This finding may have ramifications for genetic studies, including criteria for defining phenotype and collapsing data across multiple families.

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Irwin, Julia, Trey Avery, Jacqueline Turcios, Lawrence Brancazio, Barbara Cook, and Nicole Landi. "Electrophysiological Indices of Audiovisual Speech Perception in the Broader Autism Phenotype." Brain Sciences 7, no. 12 (June 2, 2017): 60. http://dx.doi.org/10.3390/brainsci7060060.

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Schmidt, Karen L., Katherine Neiswanger, Ellen Cohn, Rebecca Desensi, Carla Brandon, Kathleen Bardi, and Mary L. Marazita. "Nasolabial Fold Discontinuity during Speech as a Possible Extended Cleft Phenotype." Cleft Palate-Craniofacial Journal 50, no. 2 (March 2013): 201–6. http://dx.doi.org/10.1597/11-103.

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Thomas, R. H., S. K. Chung, S. E. Wood, T. D. Cushion, C. J. G. Drew, C. L. Hammond, J. F. Vanbellinghen, J. G. L. Mullins, and M. I. Rees. "Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay." Brain 136, no. 10 (September 11, 2013): 3085–95. http://dx.doi.org/10.1093/brain/awt207.

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Brignell, Amanda, Miya St John, Amber Boys, Amanda Bruce, Carla Dinale, Lauren Pigdon, Michael S. Hildebrand, David J. Amor, and Angela T. Morgan. "Characterization of speech and language phenotype in children with NRXN1 deletions." American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177, no. 8 (October 25, 2018): 700–708. http://dx.doi.org/10.1002/ajmg.b.32664.

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Mazzoli, Manuela, and Agnete Parving. "Phenotype-genotype correlations - can we expect to find them?" Audiological Medicine 2, no. 4 (January 2004): 255–58. http://dx.doi.org/10.1080/16513860410005352.

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Rusz, Jan, Tereza Tykalova, Michal Novotny, David Zogala, Karel Sonka, Evzen Ruzicka, and Petr Dusek. "Defining Speech Subtypes in De Novo Parkinson Disease." Neurology 97, no. 21 (October 4, 2021): e2124-e2135. http://dx.doi.org/10.1212/wnl.0000000000012878.

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Background and ObjectivesPatterns of speech disorder in Parkinson disease (PD), which are highly variable across individual patients, have not been systematically studied. Our aim was to identify speech subtypes in treatment-naive patients with PD and to examine their response to long-term dopaminergic therapy.MethodsWe recorded speech data from a total of 111 participants with de novo PD; 83 of the participants completed the 12-month follow-up (69 patients with PD on stable dopaminergic medication and 14 untreated controls with PD). Unsupervised k-means cluster analysis was performed on 8 distinctive parameters of hypokinetic dysarthria examined with quantitative acoustic analysis.ResultsThree distinct speech subtypes with similar prevalence, symptom duration, and motor severity were detected: prosodic, phonatory-prosodic, and articulatory-prosodic. Besides monopitch and monoloudness, which were common in each subtype, speech impairment was more severe in the phonatory-prosodic subtype with predominant dysphonia and the articulatory-prosodic subtype with predominant imprecise consonant articulation than in the prosodic subtype. Clinically, the prosodic subtype was characterized by a prevalence of women and younger age, while articulatory-prosodic subtype was characterized by the prevalence of men, older age, greater severity of axial gait symptoms, and poorer cognitive performance. The phonatory-prosodic subtype clinically represented intermediate status in age with mostly men and preserved cognitive performance. While speech of untreated controls with PD deteriorated over 1 year (p = 0.02), long-term dopaminergic medication maintained stable speech impairment severity in the prosodic and articulatory-prosodic subtypes and improved speech performance in patients with the phonatory-prosodic subtype (p = 0.002).DiscussionDistinct speech phenotypes in de novo PD reflect divergent underlying mechanisms and allow prediction of response of speech impairment to levodopa therapy.Classification of EvidenceThis study provides Class II evidence that, in patients with newly diagnosed PD with speech impairment, speech phenotype is associated with levodopa responsiveness.

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Watts, Christopher R., and Yan Zhang. "Progression of Self-Perceived Speech and Swallowing Impairment in Early Stage Parkinson's Disease: Longitudinal Analysis of the Unified Parkinson's Disease Rating Scale." Journal of Speech, Language, and Hearing Research 65, no. 1 (January 12, 2022): 146–58. http://dx.doi.org/10.1044/2021_jslhr-21-00216.

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Purpose: The purpose of this study was to investigate the presence and progression of self-perceived speech and swallowing impairments in newly diagnosed people with Parkinson's disease (PD) longitudinally across 6 years. Method: Longitudinal data from the Parkinson's Progression Markers Initiative were analyzed across six consecutive years in a cohort of 269 newly diagnosed people with PD, and a subset of those ( n = 211) who were assessed at every time point across the 6 years. Dependent variables included self-perceived ratings of speech and swallowing impairment severity from the Unified Parkinson's Disease Rating Scale. Patient-centered factors of age at diagnosis and motor phenotype were also assessed to determine if they were related to the change in self-perceived speech and swallowing impairments. Results: Overall, self-perceived speech and swallowing impairments were present in newly diagnosed people with PD, although over time, the degree of severity for both remained in the mild range. However, the rate of change over time was significant for perceived speech impairment, F (5.5, 1158.8) = 21.1, p < .001), and perceived swallowing impairment, F (5.2, 1082.6) = 8.6, p < .001. Changes for speech and swallowing impairment were both in the direction of progressive severity. There were no effects of age at diagnosis or motor phenotype on the degree of change for either speech or swallowing. Conclusions: Self-perceptions of speech and swallowing impairment changed significantly over time in newly diagnosed people with PD (PWPD). Consistent with existing literature, self-perceptions of speech impairment were rated as more severe than those of swallowing impairment. These findings reveal that even in the early years postdiagnoses, PWPD are experiencing changes to speech and swallowing function, albeit within the mildly severe range. The presence of self-perceived mild speech and swallowing impairments in the initial years postdiagnosis may support the need for intervention to improve and or sustain function over time.

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Rehman, Adil U., Malaika Hamid, Sher Alam Khan, Muhammad Eisa, Wasim Ullah, Zia Ur Rehman, Muzammil Ahmad Khan, et al. "The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3)." Genes 13, no. 12 (December 6, 2022): 2299. http://dx.doi.org/10.3390/genes13122299.

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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 linkage studies. Stuttering is highly variable regarding its phenotypes and molecular etiology. However, all stutters have some common features, including blocks in speech, prolongation, and repetition of sounds, syllables, and words. The involuntary actions associated with stuttering often involve increased eye blinking, tremors of the lips or jaws, head jerks, clenched fists, perspiration, and cardiovascular changes. In the present study, we recruited a consanguineous Pakistani family showing an autosomal recessive mode of inheritance. The exome sequencing identified a homozygous splice site variant in ARMC3 (Armadillo Repeat Containing 3) in a consanguineous Pashtun family of Pakistani origin as the underlying genetic cause of non-syndromic stuttering. The homozygous splice site variant (NM_173081.5:c.916 + 1G > A) segregated with the stuttering phenotype in this family. The splice change leading to the skipping of exon-8 is a loss of function (LoF) variant, which is predicted to undergo NMD (Nonsense mediated decay). Here, we report ARMC3 as a novel candidate gene causing the stuttering phenotype. ARMC3 may lead to neurodevelopmental disorders, including stuttering in humans.

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King, Kelly A., Sandra Gordon-Salant, Nicole Yanjanin, Christopher Zalewski, Ari Houser, Forbes D. Porter, and Carmen C. Brewer. "Auditory Phenotype of Niemann-Pick Disease, Type C1." Ear and Hearing 35, no. 1 (2014): 110–17. http://dx.doi.org/10.1097/aud.0b013e3182a362b8.

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Carneol, Susan Oliff, Susan M. Marks, and LuAnn Weik. "The Speech-Language Pathologist." American Journal of Speech-Language Pathology 8, no. 1 (February 1999): 23–32. http://dx.doi.org/10.1044/1058-0360.0801.23.

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Velocardiofacial syndrome (VCF) is a genetic condition involving palate abnormalities, cardiac anomalies, characteristic facies, and learning disabilities. This autosomal dominant malformation pattern is one of the most common syndromes associated with clefting (Shprintzen, Goldberg, Young, & Wolford, 1981), yet it can easily go undiagnosed. Velopharyngeal inadequacy is one of the key features. Because of the high incidence of speech, voice, and language disorders found in this population, the speech-language pathologist plays an integral role in the diagnosis of the syndrome and assists in management decisions related to medical and/or educational issues. The purposes of this paper are to: (a) inform the reader of the expanding phenotype of velocardiofacial syndrome, (b) inform the reader of the ramifications of an accurate and early diagnosis, and (c) highlight the role the speech-language pathologist plays in the diagnosis of this genetic syndrome. This will be accomplished with a review of current literature and a case study presentation of a family with VCF who was evaluated at the Masters Family Speech and Hearing Center and Cleft Palate Center at Children’s Hospital of Wisconsin.

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Da Silva, Jorge Diogo, Diana Gonzaga, Ana Barreta, Hildeberto Correia, Ana Maria Fortuna, Ana Rita Soares, and Nataliya Tkachenko. "Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication." Biomedicines 10, no. 12 (November 30, 2022): 3078. http://dx.doi.org/10.3390/biomedicines10123078.

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The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific phenotypes, including global developmental delay/intellectual disability, behavioral disorders, autism spectrum disorder and variable dysmorphic features. Depending on the genes involved in the microduplication, it can be categorized in two subtypes with different phenotypes. Here, we report a case of a 7-year-old boy with global developmental delay, speech impairment, hypotonia, behavioral conditions (ADHD and ODD), non-specific dysmorphic features and overgrowth. Genetic testing revealed a small 17p13.3 chromosomal duplication, which included the BHLHA9, CRK and YWHAE genes. Additionally, we observed that this was maternally inherited, and that the mother presented with a milder phenotype including mild learning disabilities, speech impairment and non-specific dysmorphic features, which did not significantly affect her. In conclusion, we present a clinical case of a 17p13.3 duplication that further delineates the clinical spectrum of this syndrome, including its intrafamilial/intergenerational variability.

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Çebi, Alper Han, and Şule Altıner. "Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions." Molecular Syndromology 11, no. 4 (2020): 197–206. http://dx.doi.org/10.1159/000509645.

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Chromosomal microarray analysis (CMA) is a first step test used for the diagnosis of patients with developmental delay, intellectual disability, autistic spectrum disorder, and multiple congenital anomalies. Its widespread usage has allowed genome-wide identification of copy number variations (CNVs). In our study, we performed a retrospective study on clinical and microarray data of 237 patients with developmental disabilities and/or multiple congenital anomalies and investigated the clinical utility of CMA. Phenotype-associated CNVs were detected in 15.18% of patients. Besides, we detected submicroscopic losses on 14q24.3q31.1 in a patient with speech delay and on 18q21.31q21.32 in twin patients with seizures. Deletions of <i>NRXN3</i> and <i>NEDD4L</i> were responsible for the phenotypes, respectively. This study showed that CMA is a powerful diagnostic tool in this patient group and expands the genotype-phenotype correlations on developmental disabilities.

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Shriberg, Lawrence D., Thomas F. Campbell, Heather L. Mabie, and Jenny H. McGlothlin. "Initial studies of the phenotype and persistence of speech motor delay (SMD)." Clinical Linguistics & Phonetics 33, no. 8 (June 20, 2019): 737–56. http://dx.doi.org/10.1080/02699206.2019.1595733.

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Shriberg, Lawrence D., Nancy L. Potter, and Edythe A. Strand. "Prevalence and Phenotype of Childhood Apraxia of Speech in Youth With Galactosemia." Journal of Speech, Language, and Hearing Research 54, no. 2 (April 2011): 487–519. http://dx.doi.org/10.1044/1092-4388(2010/10-0068).

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Al-Murrani, Amel, Fern Ashton, Salim Aftimos, Alice M. George, and Donald R. Love. "Amino-Terminal Microdeletion within theCNTNAP2Gene Associated with Variable Expressivity of Speech Delay." Case Reports in Genetics 2012 (2012): 1–4. http://dx.doi.org/10.1155/2012/172408.

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Thecontactin-associated protein-like 2(CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific language impairment. Here we describe a 450 kb deletion within theCNTNAP2gene that is maternally inherited in two male siblings, but with a variable clinical phenotype. This variability is described in the context of a limited number of other cases reported in the literature. The in-frame intragenic deletion removes a critical domain of the CNTNAP2 protein, and this case also highlights the challenges of correlating genotype and phenotype.

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Rice, Mabel L., Stephen R. Zubrick, Catherine L. Taylor, Lesa Hoffman, and Javier Gayán. "Longitudinal Study of Language and Speech of Twins at 4 and 6 Years: Twinning Effects Decrease, Zygosity Effects Disappear, and Heritability Increases." Journal of Speech, Language, and Hearing Research 61, no. 1 (January 22, 2018): 79–93. http://dx.doi.org/10.1044/2017_jslhr-l-16-0366.

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PurposeThis study investigates the heritability of language, speech, and nonverbal cognitive development of twins at 4 and 6 years of age. Possible confounding effects of twinning and zygosity, evident at 2 years, were investigated among other possible predictors of outcomes.MethodThe population-based twin sample included 627 twin pairs and 1 twin without a co-twin (197 monozygotic and 431 dizygotic), 610 boys and 645 girls, 1,255 children in total. Nine phenotypes from the same comprehensive direct behavioral assessment protocol were investigated at 4 and 6 years of age. Twinning effects were estimated for each phenotype at each age using general linear mixed models using maximum likelihood.ResultsTwinning effects decreased from 4 to 6 years; zygosity effects disappeared by 6 years. Heritability increased from 4 to 6 years across all 9 phenotypes, and the heritability estimates were higher than reported previously, in the range of .44–.92 at 6 years. The highest estimate, .92, was for the clinical grammar marker.ConclusionsAcross multiple dimensions of speech, language, and nonverbal cognition, heritability estimates are robust. A finiteness marker of grammar shows the highest inherited influences in this early period of children's language acquisition.

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Read, Andrew. "Commentary on the question of genotype-phenotype correlations in genetic hearing impairment." Audiological Medicine 2, no. 4 (January 2004): 259–61. http://dx.doi.org/10.1080/16513860410005361.

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Padovani, Alessandro, Maura Cosseddu, Enrico Premi, Silvana Archetti, Alice Papetti, Chiara Agosti, Barbara Bigni, et al. "The Speech and Language FOXP2 Gene Modulates the Phenotype of Frontotemporal Lobar Degeneration." Journal of Alzheimer's Disease 22, no. 3 (November 25, 2010): 923–31. http://dx.doi.org/10.3233/jad-2010-101206.

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Boutoleau-Bretonnière, Claire, Agnès Camuzat, Isabelle Le Ber, Kawtar Bouya-Ahmed, Rita Guerreiro, Anne-Laure Deruet, Christelle Evrard, et al. "A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation." Journal of Alzheimer's Disease 43, no. 2 (November 21, 2014): 625–30. http://dx.doi.org/10.3233/jad-141512.

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Catusi, Ilaria, Maria Garzo, Anna Paola Capra, Silvana Briuglia, Chiara Baldo, Maria Paola Canevini, Rachele Cantone, et al. "8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature." Genes 12, no. 5 (April 27, 2021): 652. http://dx.doi.org/10.3390/genes12050652.

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To date only five patients with 8p23.2-pter microdeletions manifesting a mild-to-moderate cognitive impairment and/or developmental delay, dysmorphisms and neurobehavioral issues were reported. The smallest microdeletion described by Wu in 2010 suggested a critical region (CR) of 2.1 Mb including several genes, out of which FBXO25, DLGAP2, CLN8, ARHGEF10 and MYOM2 are the main candidates. Here we present seven additional patients with 8p23.2-pter microdeletions, ranging from 71.79 kb to 4.55 Mb. The review of five previously reported and nine Decipher patients confirmed the association of the CR with a variable clinical phenotype characterized by intellectual disability/developmental delay, including language and speech delay and/or motor impairment, behavioral anomalies, autism spectrum disorder, dysmorphisms, microcephaly, fingers/toes anomalies and epilepsy. Genotype analysis allowed to narrow down the 8p23.3 candidate region which includes only DLGAP2, CLN8 and ARHGEF10 genes, accounting for the main signs of the broad clinical phenotype associated to 8p23.2-pter microdeletions. This region is more restricted compared to the previously proposed CR. Overall, our data favor the hypothesis that DLGAP2 is the actual strongest candidate for neurodevelopmental/behavioral phenotypes. Additional patients will be necessary to validate the pathogenic role of DLGAP2 and better define how the two contiguous genes, ARHGEF10 and CLN8, might contribute to the clinical phenotype.

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Canu, Elisa, Federica Agosta, Giovanni Battistella, Edoardo G. Spinelli, Jessica DeLeon, Ariane E. Welch, Maria Luisa Mandelli, et al. "Speech production differences in English and Italian speakers with nonfluent variant PPA." Neurology 94, no. 10 (January 10, 2020): e1062-e1072. http://dx.doi.org/10.1212/wnl.0000000000008879.

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ObjectiveTo understand whether the clinical phenotype of nonfluent/agrammatic primary progressive aphasia (nfvPPA) could present differences depending on the patient’s native language.MethodsIn this cross-sectional study, we analyzed connected speech samples in monolingual English (nfvPPA-E) and Italian speakers (nfvPPA-I) who were diagnosed with nfvPPA and matched for age, sex, and Mini-Mental State Examination scores. Patients also received a comprehensive neuropsychological battery. All patients and 2 groups of age-matched healthy controls underwent an MRI scan with 3D T1-weighted sequences. Connected speech measures and the other cognitive features were compared between patient groups. MRI variables, in terms of gray matter volume, were compared between each patient group and the corresponding controls.ResultsCompared to nfvPPA-E, nfvPPA-I had fewer years of education and shorter reported disease duration. The 2 groups showed similar regional atrophy compatible with clinical diagnosis. Patients did not differ in nonlanguage domains, comprising executive scores. Connected speech sample analysis showed that nfvPPA-E had significantly more distortions than nfvPPA-I, while nfvPPA-I showed reduced scores in some measures of syntactic complexity. On language measures, Italian speakers performed more poorly on syntactic comprehension.ConclusionsnfvPPA-E showed greater motor speech impairment than nfvPPA-I despite higher level of education and comparable disease severity and atrophy changes. The data also suggest greater grammatical impairment in nfvPPA-I. This study illustrates the need to take into account the possible effect of the individual's spoken language on the phenotype and clinical presentation of primary progressive aphasia variants.

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BROSSEAU-LAPRÉ, FRANÇOISE, and SUSAN RVACHEW. "Underlying manifestations of developmental phonological disorders in French-speaking pre-schoolers." Journal of Child Language 44, no. 6 (November 17, 2016): 1337–61. http://dx.doi.org/10.1017/s0305000916000556.

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AbstractThis study examined the psycholinguistic profiles of Quebec French-speaking children with developmental phonological disorders (DPD). The purpose was to determine whether the endophenotypes that have been identified in English-speaking children with DPD are similarly associated with speech impairment in French-speaking children. Seventy-two children with DPD and ten children with normally developing speech, aged four to six years, received a comprehensive assessment battery that included measures at the phenotype level (i.e. measures of overt speech production skills) and endophenotype level (i.e. measures of potential underlying core deficits such as phonological processing or oral motor impairments). The majority of the children with DPD presented with a psycholinguistic profile indicative of difficulties with phonological processing. Phonological processing skills also explained unique variance in speech production accuracy, indicating that French-speaking children with DPD, who produce different surface speech errors than English-speaking children with DPD, are nonetheless very similar with regards to their underlying psycholinguistic profile.

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Brendal, Megan A., Kelly A. King, Christopher K. Zalewski, Brenda M. Finucane, Wendy Introne, Carmen C. Brewer, and Ann C. M. Smith. "Auditory Phenotype of Smith–Magenis Syndrome." Journal of Speech, Language, and Hearing Research 60, no. 4 (April 14, 2017): 1076–87. http://dx.doi.org/10.1044/2016_jslhr-h-16-0024.

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Anger, Gregory J., Susan Crocker, Kyle McKenzie, Kerry K. Brown, Cynthia C. Morton, Karen Harrison, and Jennifer J. MacKenzie. "X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream of POU3F4." American Journal of Audiology 23, no. 1 (March 2014): 1–6. http://dx.doi.org/10.1044/1059-0889(2013/13-0018).

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King, Kelly A., Tomoko Makishima, Christopher K. Zalewski, Vladimir K. Bakalov, Andrew J. Griffith, Carolyn A. Bondy, and Carmen C. Brewer. "Analysis of Auditory Phenotype and Karyotype in 200 Females with Turner Syndrome." Ear and Hearing 28, no. 6 (December 2007): 831–41. http://dx.doi.org/10.1097/aud.0b013e318157677f.

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Bessett, Ryan M., Joseph V. Casillas, and Marta Ramírez Martínez. "Language choice and accommodation." Spanish in Context 14, no. 1 (April 10, 2017): 78–98. http://dx.doi.org/10.1075/sic.14.1.04bes.

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Abstract The present study investigates language choice in two bilingual speech communities in the United States: Nogales, AZ and San Ysidro, CA. Ethnically distinct fieldworkers approached members of these two communities under the guise of being lost tourists in order to engage in casual speech encounters. It was found that language choice varied between the two communities, with participants of the San Ysidro community more likely to engage in codeswitching. Ethnicity was also found to be a significant predictor of language choice, with more codeswitching taking place with the fieldworker of a Hispanic phenotype. Potential explanations and factors for future research are discussed.

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Lenz, Danielle R., Amiel A. Dror, Guy Wekselman, Helmut Fuchs, Martin Hrabé de Angelis, and Karen B. Avraham. "The inner ear phenotype of Volchok (Vlk): An ENU-induced mouse model for CHARGE syndrome." Audiological Medicine 8, no. 3 (June 2010): 110–19. http://dx.doi.org/10.3109/1651386x.2010.490039.

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Rincon, Alejandra, Paola Paez-Rojas, and Fernando Suárez-Obando. "8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy." Case Reports in Genetics 2019 (January 10, 2019): 1–6. http://dx.doi.org/10.1155/2019/7608348.

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8q22.2q22.3 microdeletion syndrome has been described in only seven patients. We present a new case from Colombia. The characteristics of this condition are developmental delay, microcephaly, seizures, and typical facial dysmorphism. We discuss the clinical phenotype of the patient presenting relevant findings like hearing loss and severe epilepsy and the possible relations between the phenotype and the genes involved in the microdeletion. We describe a female with developmental delay, microcephaly, epilepsy, severe short stature, impaired speech, facial dysmorphism, and congenital deafness. A minimal/maximal deletion of 5.238 Mb and 5.374Mb, respectively, at 8q22.2q22.3 was diagnosed using a genome-wide array. The clinical phenotype is similar to the others seven patients previously reported; however, the severity of epilepsy and the concomitant hearing loss is remarkable, characteristics previously observed independently in only two patients. The KCNS2 gene is located in the deleted regions (8q22.2). Therefore it is a possible candidate for explaining the complex neurologic phenotype.

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Budisteanu, M., S. Papuc, A. Erbescu, E. Andrei, I. Streata, M. Cucu, C. Iliescu, et al. "The psychiatric phenotype of 15q11.2-q13.3 duplications." European Psychiatry 64, S1 (April 2021): S720. http://dx.doi.org/10.1192/j.eurpsy.2021.1908.

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Introduction15q11.2-q13.3 region is prone to genomic rearrangements leading to both deletions and duplications. A wide spectrum of neuropsychiatric conditions, such as developmental delay/intellectual disability (DD/ID), autism, attention-deficit hyperactivity disorder, schizophrenia, epilepsy was reported in association with genomic imbalances of this region.ObjectivesIn this paper we report on 9 children carrying 15q11.2-q13.3 duplications.MethodsSeven boys and two girls, aged 15 months to 15 years, were included in the study. Genomic investigations were carried out by array-based comparative genomic hybridization (Agilent Technologies). In all patients the psychomotor development, dysmorphic features, neuroimaging and EEG anomalies were assessed. Psychologic and psychiatric evaluation was performed with specific tests.ResultsThe size of the duplications ranged from 9.65 Mb to 0.38 Mb. All patients presented speech delay. Autistic behavior and muscular hypotonia were detected in 8 out of 9 patients, DD/ID in 6. Two children presented epileptic seizures, in addition 4 other children had EEG anomalies. Facial dysmorphic features were observed in 5 patients. Neuroimaging studies showed anomalies in 4 children. The smallest region of overlap in our patient group harbors CHRNA7 gene, a candidate for the behavioral abnormalities.Conclusions15q duplications encompassing CHRNA7 gene were associated with different neuropsychiatric features in our patients. Our results further support the association of 15q duplications with neuropsychiatric phenotypes, with clinical heterogeneity and variable severity, which is yet to be explained. Acknowledgment: The research leading to these results has received funding from the EEA RO NO Grant 2014-2021, the project contract No 6/2019.DisclosureNo significant relationships.

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Lamônica, Dionísia Aparecida Cusin, Camila da Costa Ribeiro, Mayara dos Santos Baldin, and Maria de Lourdes Merighi Tabaquim. "Klinefelter syndrome: a speech-language and neuropsychological assessment." Revista CEFAC 20, no. 5 (October 2018): 665–71. http://dx.doi.org/10.1590/1982-021620182056818.

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ABSTRACT The Klinefelter syndrome is a chromosomal aneuploidy caused by additional X chromosomes in men. The diagnosis is made by clinical observation and karyotype examination. Besides other characteristics, the phenotype involves infertility, hypogonadism, gynecomastia, and cognitive alterations, mainly in the language domain. This paper describes the case of a teenager with Klinefelter syndrome and history of difficulties in the learning process, behavioral and communication problems. The ethical guidelines were followed in the present report. The cognitive-communicative, pragmatic and syntactic profile was drawn from the speech and neuropsychological evaluations. The speech-language assessment showed deficits in expression and comprehension. Difficulties were also found in phonological awareness, mathematical operations, reading and writing, access to the lexicon, alterations in pragmatics and occasionally, in syntactics. The neuropsychological evaluation indicated impairments in tasks that require the identification of similarities, establishment of cause-effect relationships and analogies, demonstrating a compromised reasoning for logical operations, with intellectual level incompatible with the chronological age. This interdisciplinary clinical study favors intervention approaches in rehabilitation, to maximize the potential of the individuals affected, contributing to improve their quality of life.

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Shevela, E. Ya, V. G. Degtyareva, A. V. Sosnovskaya, E. V. Voronova, M. Yu Kafanova, I. M. Rashchupkin, A. A. Ostanin, and E. R. Chernykh. "Therapeutic effect of soluble factors of M2 phenotype macrophages in children with language impairments." Medical Immunology (Russia) 23, no. 5 (November 17, 2021): 1137–50. http://dx.doi.org/10.15789/1563-0625-teo-2224.

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The aim of the present study was to assess safety and clinical efficacy of inhalation immunotherapy based on intranasal administration of bioactive factors produced by the M2 phenotype macrophages in children with language impairments, as well as to study the effect of inhalation immunotherapy on the cytokine profile in the patients' blood serum. The study was carried out according to the NCT04689282 protocol (www.ClinicalTrials.gov) and included 14 children (9 boys / 5 girls), aged 3 to 8 years, with language impairments associated with perinatal or postnatal CNS lesions of various origin. The children recruited into the study were assessed by a neurologist and speech therapist before the therapy, at the end of the course (1 month), and 6 months later. Serum samples for cytokine analysis were obtained before and 1 month after therapy. The course of intranasal inhalations by the conditioned M2 media (2 ml one time per day for 28-30 days) was safe and well tolerated. None of the 14 treated children had significant adverse reactions and severe undesirable events. Intranasal immunotherapy led to a decrease in the severity of language problems, which manifested by improved speech understanding by 45%; the sensorimotor level of speech, by 51%; word formation skills, by 72%, as well as a twofold increase in general and fine motor skills. In children with signs of autism spectrum disorders, along with a language improvement, a decrease in the severity of autistic symptoms was registered, as evidenced by statistically significant decrease in the CARS score from 42.5 to 38.5 after 1 month, and to 33 points after 6 months (p < 0.05). The clinical effect was revealed rather soon, i.e., within a month after the first procedure, being maintained or intensified during a follow-up for 6 months. At the same time, two-thirds of the children showed a clear clinical improvement, with insignificant effect in the rest of patients. Comparative analysis of the serum cytokine levels in these subgroups showed that children with a pronounced positive response to inhaled immunotherapy differed in the following parameters: (1) initially higher level of VEGF and IGF-1, and (2) decrease the level of TNFα in response to intranasal immunotherapy. In summary, we first tested a fundamentally new approach based on the use of soluble factors from M2-type macrophages and intranasal route of their administration in order to treat the children with severe language impairments, demonstrating safety and obtained preliminary data on effectiveness of such approach.

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Logan, Ashley M., Alexandria E. Gawlik, James K. Aden, Natalie C. Jarvis, and Gregory R. Dion. "Pharyngoesophageal Segment Distention Across Volumes and Pathology." Journal of Speech, Language, and Hearing Research 63, no. 11 (November 13, 2020): 3594–99. http://dx.doi.org/10.1044/2020_jslhr-19-00401.

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Purpose Patients receive multiple bolus trials during a videofluoroscopic swallowing study (VFSS) to assess swallow function, inclusive of narrowing within the pharyngoesophageal segment (PES). While differences in the narrowest and widest segments are visualized, the ratio of distention across boluses is not well understood. Method A retrospective review of 50 consecutive VFSSs with five boluses of varied viscosity and volume was performed. Still images at maximal PES distention were captured and scaled using a 19-mm disk. Measurements of the narrowest and widest segments were obtained, and a distention ratio was calculated. Studies were categorized by PES phenotype as normal, esophageal web, cricopharyngeal bar, or narrow PES. PES distention ratios were evaluated across bolus trials and within PES phenotypes using a mixed-methods repeated-measures analysis of variance. Results Of the 50 studies, there were 11 normal, 16 web, 10 bar, and 13 narrow PES. Quantitative differences were present for the narrowest ( p = .01) and widest ( p = .002) points across bolus volumes. No difference was present in distention ratio ( p = .2) across volumes. Evaluating the PES phenotype, web, normal, bar, and narrow PES distention ratios differed ( p = .03). Bar and PES narrow distention ratios were lower compared to that of the normal group ( p = .01 for normal vs. bar and p = .02 for normal vs. PES narrow). Conclusions PES distention ratio stability across varying bolus volumes and phenotypes suggests that a reduction in trials during a VFSS may permit an equivalent PES evaluation to traditional exams. Ultimately, this could improve our understanding and accurate diagnosis of PES dysfunction.

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Halpin, Chris, Grace Owen, Gustavo A. Gutiérrez-Espeleta, Katherine Sims, and Heidi L. Rehm. "Audiologic Features of Norrie Disease." Annals of Otology, Rhinology & Laryngology 114, no. 7 (July 2005): 533–38. http://dx.doi.org/10.1177/000348940511400707.

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Objectives: Norrie disease is an X-linked recessive disorder in which patients are born blind and develop sensory hearing loss in adolescence. The hearing loss associated with Norrie disease has been shown in a genetically altered knockout mouse to involve dysfunction of the stria vascularis; most other structures are preserved until the later stages of the disease. The objective of this study was to characterize the audiologic phenotype of Norrie disease for comparison with the pathophysiologic mechanism. Methods: The design combined two series of clinical audiologic evaluations, with special attention to speech intelligibility. Results: The audiologic results for 12 affected individuals and 10 carriers show that patients with Norrie disease retain high speech intelligibility scores even when the threshold loss is severe. Conclusions: The cochlear mechanism — failure of the stria vascularis — accounts for some of the higher values in the wide distribution of speech scores in cases with similar pure tone audiograms.

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Manuela, Priolo, Radio Francesca Clementina, Pizzi Simone, Pintomalli Letizia, Pantaleoni Francesca, Mancini Cecilia, Cordeddu Viviana, et al. "Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype." Genes 12, no. 7 (June 30, 2021): 1009. http://dx.doi.org/10.3390/genes12071009.

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Objective, the application of genomic sequencing in clinical practice has allowed us to appreciate the contribution of co-occurring pathogenic variants to complex and unclassified clinical phenotypes. Besides the clinical relevance, these findings have provided evidence of previously unrecognized functional links between genes in the context of developmental processes and physiology. Patients and Methods, a 5-year-old patient showing an unclassified phenotype characterized by developmental delay, speech delay, peculiar behavioral features, facial dysmorphism and severe cardiopathy was analyzed by trio-based whole exome sequencing (WES) analysis to identify the genomic events underlying the condition. Results, two co-occurring heterozygous truncating variants in CNOT3 and SMAD6 were identified. Heterozygous loss-of-function variants in CNOT3, encoding a subunit of the CCR4-NOT protein complex, have recently been reported to cause a syndromic condition known as intellectual developmental disorder with speech delay, autism and dysmorphic facies (IDDSADF). Enrichment of rare/private variants in the SMAD6 gene, encoding a protein negatively controlling transforming growth factor β/bone morphogenetic protein (TGFB/BMP) signaling, has been described in association with a wide spectrum of congenital heart defects. We dissected the contribution of individual variants to the complex clinical manifestations and profiled a previously unappreciated set of facial features and signs characterizing IDDSADF. Conclusions, two concomitant truncating variants in CNOT3 and SMAD6 are the cause of the combination of features documented in the patient resulting in the unique multisystem neurodevelopmental condition. These findings provide evidence for a functional link between the CCR4-NOT complex and TGFB/BMP signaling in processes controlling cardiac development. Finally, the present revision provides evidence that IDDSADF is characterized by a distinctive facial gestalt.

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de Heer, Anne-Martine R., Patrick L. M. Huygen, Rob W. J. Collin, Jaap Oostrik, Hannie Kremer, and W. R. J. Cremers. "Audiometric and Vestibular Features in a Second Dutch DFNA20/26 Family with a Novel Mutation in ACTG1." Annals of Otology, Rhinology & Laryngology 118, no. 5 (May 2009): 382–90. http://dx.doi.org/10.1177/000348940911800511.

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Objectives: We analyzed the phenotype in a 5-generation DFNA20/26 family with a novel missense mutation in the ACTG1 gene (c.151G>A) and compared the findings to previous reports on DFNA20/26 families. Methods: Audiometric data were collected from the family members of a Dutch kindred with the novel ACTG1 mutation. Cross-sectional and/or longitudinal analyses were performed on pure tone and speech audiometry data of the mutation carriers. Age-related typical audiograms were constructed. Vestibular examination was performed in all mutation carriers. Results: Overall, high-frequency hearing impairment, most prominent at ages over 30 years, was observed with a progression rate of 1.1 to 2.1 dB/y, increasing with frequency. It ultimately resulted in residual hearing. Speech recognition scores remained good at given pure tone average (1, 2, and 4 kHz) levels, but were slightly poorer than those at similar levels in a group of patients with presbycusis. Vestibular examination did not reveal any consistent, statistically significant abnormalities. Conclusions: The audiometric phenotype of the Dutch DFNA20/26 family with a novel mutation in ACTG1 was largely consistent with previous reports on DFNA20/26. Considerable variations were found in audiogram configurations within the family. This is the first known DFNA20/26 family that has experienced tinnitus.

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