scholarly journals Refining the Phenotype of Recurrent Rearrangements of Chromosome 16

2019 ◽  
Vol 20 (5) ◽  
pp. 1095 ◽  
Author(s):  
Serena Redaelli ◽  
Silvia Maitz ◽  
Francesca Crosti ◽  
Elena Sala ◽  
Nicoletta Villa ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Copy Number Variations ◽  
Comparative Genomic ◽  
Segmental Duplications ◽  
Apraxia Of Speech ◽  
Chromosome 16 ◽  
Childhood Apraxia Of Speech ◽  
Elevated Frequency

Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and predisposition to rearrangement by the recurrent mechanism of non-allelic homologous recombination. Microarray technologies have allowed for the analysis of copy number variations (CNVs) that can contribute to the risk of developing complex diseases. By array comparative genomic hybridization (CGH) screening of 1476 patients, we detected 27 cases with CNVs on chromosome 16. We identified four smallest regions of overlapping (SROs): one at 16p13.11 was found in seven patients; one at 16p12.2 was found in four patients; two close SROs at 16p11.2 were found in twelve patients; finally, six patients were found with atypical rearrangements. Although phenotypic variability was observed, we identified a male bias for Childhood Apraxia of Speech associated to 16p11.2 microdeletions. We also reported an elevated frequency of second-site genomic alterations, supporting the model of the second hit to explain the clinical variability associated with CNV syndromes. Our goal was to contribute to the building of a chromosome 16 disease-map based on disease susceptibility regions. The role of the CNVs of chromosome 16 was increasingly made clear in the determination of developmental delay. We also found that in some cases a second-site CNV could explain the phenotypic heterogeneity by a simple additive effect or a pejorative synergistic effect.

Clinical Implications of Chromosome 16 Copy Number Variation

2021 ◽  
pp. 1-9
Author(s):  
Emine Ikbal Atli ◽  
Sinem Yalcintepe ◽  
Engin Atli ◽  
Selma Demir ◽  
Cisem Mail ◽  
...  
Keyword(s):  
Copy Number ◽  
Clinical Presentation ◽  
Phenotypic Variability ◽  
Copy Number Variations ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Chromosome 16 ◽  
Genomic Changes ◽  
Number Variation ◽  
Nonallelic Homologous Recombination

Chromosome 16 is one of the gene-rich chromosomes; however, approximately 10% of the chromosome 16 sequence is composed of segmental copies, which renders this chromosome instable and predisposes it to rearrangements via frequent nonallelic homologous recombination. Microarray technologies have enabled the analysis of copy number variations (CNV), which may be associated with the risk of developing complex diseases. Through comparative genomic hybridisation in 1,298 patients, we detected 18 cases with chromosome 16 CNV. We identified 2recurrent CNV regions, including 1 at 16p13.11 in 4 patients and another at 16p11.2 in 7 patients. We also detected atypical chromosome 16 rearrangements in 7 patients. Furthermore, we noted an increased frequency of co-occurring genomic changes, supporting the two-hit hypothesis to explain the phenotypic variability in the clinical presentation of CNV syndromes. Our findings can contribute to the creation of a chromosome 16 disease map based on regions that may be associated with disease development.

The role of candidate-geneCNTNAP2in childhood apraxia of speech and specific language impairment

2015 ◽  
Vol 168 (7) ◽  
pp. 536-543 ◽  
Author(s):  
T. M. Centanni ◽  
J. N. Sanmann ◽  
J. R. Green ◽  
J. Iuzzini-Seigel ◽  
C. Bartlett ◽  
...  
Keyword(s):  
Language Impairment ◽  
Specific Language Impairment ◽  
Apraxia Of Speech ◽  
Childhood Apraxia Of Speech ◽  
Specific Language

A Novel 4q32.3 Deletion in a Boy: Additional Signs and the Role of MARCH1

2021 ◽  
Author(s):  
Xena Giada Pappalardo ◽  
Martino Ruggieri ◽  
Raffaele Falsaperla ◽  
Salvatore Savasta ◽  
Umberto Raucci ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Growth Failure ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Mild Developmental Delay ◽  
Uncommon Condition ◽  
Craniofacial Features ◽  
Adducted Thumbs ◽  
Genomic Variant

AbstractThe 4q deletion syndrome is an uncommon condition manifesting with broad clinical expression and phenotypic variability. We report a 5-year-old boy affected by 4q deletion syndrome who showed minor craniofacial features, growth failure, mild developmental delay, severe speech delay, and marked irascibility and aggressivity. Moreover, he showed precocious and crowded primary dentition, digital hyperlaxity, and congenital bilateral adducted thumbs, signs which were previously unreported in the syndrome. The array comparative genomic hybridization analysis revealed a 4q partial terminal deletion of ∼329.6 kb extending from 164.703.186 to 165.032.803 nt, which includes part of MARCH1 (membrane associated ring-CH-type finger 1) gene (OMIM#613331). Same rearrangement was found in his healthy mother. Clinical phenotype of the child and its relationship to the deleted region is presented with a revision of the cases having the same copy number losses from the literature and genomic variant databases.

scholarly journals Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization

2012 ◽  
Vol 14 (11) ◽  
pp. 928-936 ◽  
Author(s):  
Jennifer J.S. Laffin ◽  
Gordana Raca ◽  
Craig A. Jackson ◽  
Edythe A. Strand ◽  
Kathy J. Jakielski ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Comparative Genomic Hybridization ◽  
Array Comparative Genomic Hybridization ◽  
Comparative Genomic ◽  
Apraxia Of Speech ◽  
Childhood Apraxia Of Speech ◽  
Genomic Hybridization

Bang for Your Buck: A Single-Case Experimental Design Study of Practice Amount and Distribution in Treatment for Childhood Apraxia of Speech

2019 ◽  
Vol 62 (9) ◽  
pp. 3160-3182 ◽  
Author(s):  
Edwin Maas ◽  
Christina Gildersleeve-Neumann ◽  
Kathy Jakielski ◽  
Nicolette Kovacs ◽  
Ruth Stoeckel ◽  
...  
Keyword(s):  
Single Case ◽  
Evidence Base ◽  
Distributed Practice ◽  
Single Subject ◽  
Single Subject Design ◽  
Apraxia Of Speech ◽  
Childhood Apraxia Of Speech ◽  
Opposite Pattern ◽  
Massed Practice ◽  
Treatment Conditions

Purpose The aim of this study was to examine 2 aspects of treatment intensity in treatment for childhood apraxia of speech (CAS): practice amount and practice distribution. Method Using an alternating-treatments single-subject design with multiple baselines, we compared high versus low amount of practice, and massed versus distributed practice, in 6 children with CAS. Conditions were manipulated in the context of integral stimulation treatment. Changes in perceptual accuracy, scored by blinded analysts, were quantified with effect sizes. Results Four children showed an advantage for high amount of practice, 1 showed an opposite effect, and 1 showed no condition difference. For distribution, 4 children showed a clear advantage for massed over distributed practice post treatment; 1 showed an opposite pattern, and 1 showed no clear difference. Follow-up revealed a similar pattern. All children demonstrated treatment effects (larger gains for treated than untreated items). Conclusions High practice amount and massed practice were associated with more robust speech motor learning in most children with CAS, compared to low amount and distributed practice, respectively. Variation in effects across children warrants further research to determine factors that predict optimal treatment conditions. Finally, this study adds to the evidence base supporting the efficacy of integral stimulation treatment for CAS. Supplemental Material https://doi.org/10.23641/asha.9630599

What Does It Mean to Be Social? Defining the Social Landscape for Children With Childhood Apraxia of Speech

2020 ◽  
Vol 5 (4) ◽  
pp. 843-852 ◽  
Author(s):  
Nancy Tarshis ◽  
Michelle Garcia Winner ◽  
Pamela Crooke
Keyword(s):  
Social Development ◽  
Social Goals ◽  
Apraxia Of Speech ◽  
Childhood Apraxia Of Speech ◽  
Social Competencies ◽  
The Social ◽  
Social Landscape ◽  
Communication Challenges ◽  
Primary Focus ◽  
Speech Motor

Purpose What does it mean to be social? In addition, how is that different from behaving socially appropriately? The purpose of this clinical focus article is to tackle these two questions along with taking a deeper look into how communication challenges in childhood apraxia of speech impact social competencies for young children. Through the lens of early social development and social competency, this clinical focus article will explore how speech motor challenges can impact social development and what happens when young learners miss early opportunities to grow socially. While not the primary focus, the clinical focus article will touch upon lingering issues for individuals diagnosed with childhood apraxia of speech as they enter the school-aged years. Conclusion Finally, it will address some foundational aspects of intervention and offer ideas and suggestions for structuring therapy to address both speech and social goals.

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