scholarly journals Variable penetrance of the 15q11.2 BP1–BP2 microduplication in a family with cognitive and language impairment

2016 ◽  
Author(s):  
Antonio Benítez-Burraco ◽  
Montserrat Barcos-Martínez ◽  
Isabel Espejo-Portero ◽  
Ma Salud Jiménez-Romero
Keyword(s):  
Language Processing ◽  
Language Impairment ◽  
Monozygotic Twins ◽  
Behavioral Impairment ◽  
Behavioral Disturbances ◽  
Case Presentation ◽  
Cognitive Delay ◽  
And Function ◽  
Male Twin ◽  
Variable Penetrance

ABSTRACTThe 15q11.2 BP1–BP2 region is found duplicated or deleted in people with cognitive, language, and behavioral impairment. Case presentation. We report on a family (the father and three male twin siblings) who presents with a duplication of the 15q11.2 BP1-BP2 region and a variable phenotype: whereas the father and the fraternal twin are normal carriers, the monozygotic twins exhibit severe language and cognitive delay and behavioral disturbances. The genes located within the duplicated region are involved in brain development and function, and some of them are related to language processing. Conclusions. The probands’ phenotype may result from changes in the expression level of some of these genes important for cognitive development.

scholarly journals Language and cognitive impairment associated to a novel p.Cys63Arg change in the MED13L gene

2017 ◽  
Author(s):  
Ma Salud Jiménez-Romero ◽  
Pilar Carrasco-Salas ◽  
Antonio Benítez-Burraco
Keyword(s):  
Language Impairment ◽  
Complex Phenotype ◽  
Behavioral Disturbances ◽  
Case Presentation ◽  
Cognitive Delay ◽  
Transcriptional Regulatory ◽  
Regulatory Complex ◽  
A Subunit ◽  
Synonymous Change ◽  
The Brain

ABSTRACTMutations of the MED13L gene, which encodes a subunit of a transcriptional regulatory complex, result in a complex phenotype entailing physical and cognitive anomalies. Deep language impairment has been reported, mostly in patients with CNV. Case presentation. We report on a child who presents with a non-synonymous change p.Cys63Arg in MED13L (Chr12:116675396A>G, GRCh37) and who exhibits profound language impairment in the expressive domain, cognitive delay, behavioral disturbances, and some autistic features. Conclusions. Because of the brain areas in which MED13L is expressed and because of the functional links between MED13L and the products of some candidate genes for language disorders, the proband’s linguistic phenotype may result from changes in a functional network important for language development.

Case presentation of calcaneonavicular coalition in monozygotic twins

1996 ◽  
Vol 86 (9) ◽  
pp. 433-438 ◽  
Author(s):  
S Plotkin
Keyword(s):  
Autosomal Dominant ◽  
Monozygotic Twins ◽  
Mendelian Inheritance ◽  
Tarsal Coalition ◽  
Case Presentation ◽  
Mesenchymal Differentiation ◽  
Polygenic System ◽  
Close Family ◽  
Variable Penetrance

A case study of monozygotic twins with bilateral calcaneonavicular coalitions is presented. With the frequency of tarsal coalitions being approximately 1% to 2% and the frequency of monozygotic twins being 0.4%, it is a rare but predictable finding to see monozygotic twins with tarsal coalitions. This sheds additional light on the etiology of tarsal coalition that historically has been believed to be a defect in mesenchymal differentiation with indications of a genetic component. Despite the limited number of subjects used for various studies, tarsal coalitions have been considered to be an autosomal dominant defect with variable penetrance. In fact, inheritance of tarsal coalitions is more complicated than simple mendelian inheritance patterns and is likely to be a single error in a polygenic system. Because of this inheritance pattern, it is important to consider evaluating siblings and close family members of patients diagnosed with a tarsal coalition.

scholarly journals Language impairment resulting from a de novo deletion of 7q32.1-q33: a case report

2016 ◽  
Author(s):  
Ma Salud Jiménez-Romero ◽  
Montserrat Barcos-Martínez ◽  
Isabel Espejo-Portero ◽  
Antonio Benítez-Burraco
Keyword(s):  
Language Impairment ◽  
Developmental Disorders ◽  
De Novo ◽  
Hot Spot ◽  
Speech Sound ◽  
Cognitive Disorders ◽  
Language Deficits ◽  
Behavioral Disturbances ◽  
Motor Problems ◽  
And Function

ABSTRACTChromosome 7 is a hot spot for cognitive disorders involving language deficits. We report on a girl who presents with a cognitive and speech delay, motor problems, hearing loss, and behavioral disturbances, and a de novo deletion within 7q32.1-q33 (chromosome position: chr7:127109685-132492196, hg 18). Several genes involved in brain development and function are located within the deleted region. Many of them are related to developmental disorders encompassing language deficits (dyslexia, speech-sound disorder, and autism). The proband’s phenotype may result from a change in the expression level of some of these genes.

scholarly journals Myxofibrosarcoma Mimicking Inflammatory Lesion of Temporomandibular Joint—Case Presentation

2021 ◽  
Vol 11 (10) ◽  
pp. 4373
Author(s):  
Dawid Zagacki ◽  
Krzysztof Sztychny ◽  
Marta Tyndorf ◽  
Robert Bibik ◽  
Dominik Sygut ◽  
...  
Keyword(s):  
Temporomandibular Joint ◽  
Inflammatory Lesion ◽  
Maxillofacial Region ◽  
Case Presentation ◽  
Oncologic Patients ◽  
And Function ◽  
Ultra High Molecular Weight ◽  
Methods Of Reconstruction ◽  
Disease Free

Treating oncologic patients remains a challenge for surgeons aiming to provide patients with safe margins of resection while maintaining the highest possible quality of life. The latter, in the case of malignancies, requires using sophisticated methods of reconstruction. Thus, we present a case of a 75-year-old patient treated in our department with a rare neoplasm in the region of the temporomandibular joint—a myxofibrosarcoma that was mimicking an inflammatory lesion. The patient underwent two surgeries—firstly alloplasty of the TMJ due to the suspicion of an inflammatory lesion, lately extended to the resection of glenoid fossa and subtemporal fossa contents when the mandible was reconstructed using UHMW-PE (ultra-high molecular weight polyethylene). The patient was also referred for adjuvant radiotherapy and has remained disease-free for over 96 months with very good aesthetics and function of the mandible. The presented case highlights not only the need for increased oncologic awareness but also the possible use of UHMW-PE as a reconstruction material in the broad resection of the maxillofacial region.

The Neurobiology of Sensory and Language Processing in Language-Impaired Children

1993 ◽  
Vol 5 (2) ◽  
pp. 235-253 ◽  
Author(s):  
Helen J. Neville ◽  
Sharon A. Coffey ◽  
Phillip J. Holcomb ◽  
Paula Tallal
Keyword(s):  
Language Processing ◽  
Sentence Processing ◽  
Language Impairment ◽  
Cognitive Abilities ◽  
Temporal Discrimination ◽  
Hemispheric Specialization ◽  
Superior Temporal Gyrus ◽  
Language Impaired ◽  
Neurophysiological Studies ◽  
Abnormal Performance

Clinical, behavioral, and neurophysiological studies of developmental language impairment (LI), including reading disability (RD), have variously emphasized different factors that may contribute to this disorder. These include abnormal sensory processing within both the auditory and visual modalities and deficits in linguistic skills and in general cognitive abilities. In this study we employed the event-related brain potential (ERP) technique in a series of studies to probe and compare Merent aspects of functioning within the same sample of LI/RD children. Within the group multiple aspects of processing were affected, but heterogeneously across the sample. ERP components linked to processing within the superior temporal gyrus were abnormal in a subset of children that displayed abnormal performance on an auditory temporal discrimination task. An early component of the visual ERP was reduced in amplitude in the group as a whole. The relevance of this effect to current conceptions of substreams within the visual system is discussed. During a sentence processing task abnormal hemispheric specialization was observed in a subset of children who scored poorly on tests of grammar. By contrast the group as a whole displayed abnormally large responses to words requiring contextual integration. The results imply that multiple factors can contribute to the profile of language impairment and that different and specific deficits occur heterogeneously across populations of LI/RD children.

scholarly journals A Connectomic Atlas of the Human Cerebrum—Chapter 13: Tractographic Description of the Inferior Fronto-Occipital Fasciculus

2018 ◽  
Vol 15 (suppl_1) ◽  
pp. S436-S443 ◽  
Author(s):  
Andrew K Conner ◽  
Robert G Briggs ◽  
Goksel Sali ◽  
Meherzad Rahimi ◽  
Cordell M Baker ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
White Matter ◽  
Magnetic Resonance ◽  
Language Processing ◽  
White Matter Tract ◽  
Resonance Imaging ◽  
Large White ◽  
Human Cortex ◽  
Human Connectome Project ◽  
And Function

ABSTRACT The inferior fronto-occipital fasciculus (IFOF) is a large white matter tract of the human cerebrum with functional connectivity associated with semantic language processing and goal-oriented behavior. However, little is known regarding the overall connectivity of this tract. Recently, the Human Connectome Project parcellated the human cortex into 180 distinct regions. In our other work, we have shown these various regions in relation to clinically applicable anatomy and function. Utilizing Diffusion Spectrum Magnetic Resonance Imaging tractography coupled with the human cortex parcellation data presented earlier in this supplement, we aim to describe the macro-connectome of the IFOF in relation to the linked parcellations present within the human cortex. The purpose of this study is to present this information in an indexed, illustrated, and tractographically aided series of figures and tables for anatomic and clinical reference.

Twins

2019 ◽  
pp. 25-30
Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry
Keyword(s):  
Risk Factors ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Birth Defects ◽  
Congenital Heart ◽  
Clinical Case ◽  
Monozygotic Twins ◽  
Perinatal Complications ◽  
Case Presentation ◽  
Incidence Risk

This chapter reviews the incidence, risk factors, and epidemiology of disorders associated with twinning. The timing of twinning and the types of twins are reviewed. The fetal and perinatal complications of twinning including twin to twin transfusion and its treatment are discussed, as well as the possible consequences of death of a monozygotic co-twin. These include severe disruptive brain abnormalities, and other vascular disruptive defects. The birth defects more common in twins are enumerated and specific patterns of birth defects such as hemifacial macrosomia and VACTERL are discussed. A clinical case presentation features monozygotic twins with twin-to-twin transfusion syndrome and congenital heart disease.

Patterns of Language Impairment in Early ALS

2020 ◽  
pp. 10.1212/CPJ.0000000000001006
Author(s):  
Marta Pinto-Grau ◽  
Bronagh Donohoe ◽  
Sarah O’Connor ◽  
Lisa Murphy ◽  
Emmet Costello ◽  
...  
Keyword(s):  
Language Processing ◽  
Language Impairment ◽  
Semantic Processing ◽  
Language Change ◽  
Lexical Processing ◽  
Word Reading ◽  
Executive Dysfunction ◽  
Population Based ◽  
Word Naming ◽  
Word Spelling

ABSTRACTObjective.To investigate the incidence and nature of language change and its relationship to executive dysfunction in a population-based incident ALS sample, with the hypothesis that patterns of frontotemporal involvement in early ALS extend beyond areas of executive control to regions associated with language processing.Methods.One hundred and seventeen population-based incident ALS cases without dementia and 100 controls matched by age, sex and education were included in the study. A detailed assessment of language processing including lexical processing, word spelling, word reading, word naming, semantic processing and syntactic/grammatical processing was undertaken. Executive domains of phonemic verbal fluency, working memory, problem-solving, cognitive flexibility and social cognition were also evaluated.Results.Language processing was impaired in this incident cohort of individuals with ALS, with deficits in the domains of word naming, orthographic processing and syntactic/grammatical processing. Conversely, phonological lexical processing and semantic processing were spared. While executive dysfunction accounted in part for impairments in grammatical and orthographic lexical processing, word spelling, reading and naming, primary language deficits were also present.Conclusions.Language impairment is characteristic of ALS at early stages of the disease, and can develop independently of executive dysfunction, reflecting selective patterns of frontotemporal involvement at disease onset. Language change is therefore an important component of the frontotemporal syndrome associated with ALS.

scholarly journals Increased and Decreased Superficial White Matter Structural Connectivity in Schizophrenia and Bipolar Disorder

2019 ◽  
Vol 45 (6) ◽  
pp. 1367-1378 ◽  
Author(s):  
Ellen Ji ◽  
Pamela Guevara ◽  
Miguel Guevara ◽  
Antoine Grigis ◽  
Nicole Labra ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
White Matter ◽  
Language Processing ◽  
Structural Connectivity ◽  
Anterior Cingulate ◽  
Precentral Gyrus ◽  
Psychiatric Illnesses ◽  
And Function ◽  
Post Hoc

Abstract Schizophrenia (SZ) and bipolar disorder (BD) are often conceptualized as “disconnection syndromes,” with substantial evidence of abnormalities in deep white matter tracts, forming the substrates of long-range connectivity, seen in both disorders. However, the study of superficial white matter (SWM) U-shaped short-range tracts remained challenging until recently, although findings from postmortem studies suggest they are likely integral components of SZ and BD neuropathology. This diffusion weighted imaging (DWI) study aimed to investigate SWM microstructure in vivo in both SZ and BD for the first time. We performed whole brain tractography in 31 people with SZ, 32 people with BD and 54 controls using BrainVISA and Connectomist 2.0. Segmentation and labeling of SWM tracts were performed using a novel, comprehensive U-fiber atlas. Analysis of covariances yielded significant generalized fractional anisotropy (gFA) differences for 17 SWM bundles in frontal, parietal, and temporal cortices. Post hoc analyses showed gFA reductions in both patient groups as compared with controls in bundles connecting regions involved in language processing, mood regulation, working memory, and motor function (pars opercularis, insula, anterior cingulate, precentral gyrus). We also found increased gFA in SZ patients in areas overlapping the default mode network (inferior parietal, middle temporal, precuneus), supporting functional hyperconnectivity of this network evidenced in SZ. We thus illustrate that short U-fibers are vulnerable to the pathological processes in major psychiatric illnesses, encouraging improved understanding of their anatomy and function.

Cognitive Control along the Language Spectrum: From the Typical Bilingual Child to Language Impairment

2019 ◽  
Vol 40 (04) ◽  
pp. 256-271
Author(s):  
Klara Marton ◽  
Thorfun Gehebe ◽  
Lia Pazuelo
Keyword(s):  
Cognitive Control ◽  
Language Processing ◽  
Language Impairment ◽  
Cognitive Skills ◽  
Critical Role ◽  
Bilingual Children ◽  
Interference Control ◽  
Negative Effects ◽  
Control Functions ◽  
Language Deficit

AbstractCognitive control refers to the ability to perform goal-directed behaviors in the presence of other compelling actions or in the face of habitual practices. Cognitive control functions play a critical role in children's language processing and literacy development. In recent years, many clinicians have expanded their assessment and treatment to target specific cognitive skills. Our goal is to provide a review of recent findings on cognitive control functions in children with different language status (i.e., monolingual and bilingual children with and without language impairment). While children with language impairment show performance deficits in specific cognitive functions (e.g., working memory updating and interference control), typically developing bilingual children often outperform their monolingual peers in cognitive control tasks. However, the relationship between bilingualism and cognitive control has been controversial. Several factors that influence these variations are discussed. Given the findings on the joint impact of bilingualism and language impairment on cognitive control functions, we identify conditions in which bilingualism attenuates the negative effects of the language deficit and conditions in which language impairment has a stronger effect than bilingualism. Critical issues of bilingual assessment, suggestions, and future directions are discussed.

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