scholarly journals Severe childhood speech disorder

Neurology ◽  
2020 ◽  
Vol 94 (20) ◽  
pp. e2148-e2167 ◽  
Author(s):  
Michael S. Hildebrand ◽  
Victoria E. Jackson ◽  
Thomas S. Scerri ◽  
Olivia Van Reyk ◽  
Matthew Coleman ◽  
...  
Keyword(s):  
Transcriptional Regulation ◽  
De Novo ◽  
Primary Diagnosis ◽  
Speech Disorders ◽  
Speech Development ◽  
Speech Disorder ◽  
Human Communication ◽  
Childhood Apraxia Of Speech ◽  
Genetic Etiology ◽  
Clinical Disorder

ObjectiveDetermining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despite intensive investigation over the past 2 decades, the etiology of most speech disorders in children remains unexplained. To test the hypothesis that speech disorders have a genetic etiology, we performed genetic analysis of children with severe speech disorder, specifically childhood apraxia of speech (CAS).MethodsPrecise phenotyping together with research genome or exome analysis were performed on children referred with a primary diagnosis of CAS. Gene coexpression and gene set enrichment analyses were conducted on high-confidence gene candidates.ResultsThirty-four probands ascertained for CAS were studied. In 11/34 (32%) probands, we identified highly plausible pathogenic single nucleotide (n = 10; CDK13, EBF3, GNAO1, GNB1, DDX3X, MEIS2, POGZ, SETBP1, UPF2, ZNF142) or copy number (n = 1; 5q14.3q21.1 locus) variants in novel genes or loci for CAS. Testing of parental DNA was available for 9 probands and confirmed that the variants had arisen de novo. Eight genes encode proteins critical for regulation of gene transcription, and analyses of transcriptomic data found CAS-implicated genes were highly coexpressed in the developing human brain.ConclusionWe identify the likely genetic etiology in 11 patients with CAS and implicate 9 genes for the first time. We find that CAS is often a sporadic monogenic disorder, and highly genetically heterogeneous. Highly penetrant variants implicate shared pathways in broad transcriptional regulation, highlighting the key role of transcriptional regulation in normal speech development. CAS is a distinctive, socially debilitating clinical disorder, and understanding its molecular basis is the first step towards identifying precision medicine approaches.

scholarly journals Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the FOXP2 Gene

2021 ◽  
Vol 9 ◽  
Author(s):  
Orsolya Nagy ◽  
Judit Kárteszi ◽  
Beatrix Elmont ◽  
Anikó Ujfalusi
Keyword(s):  
Complex Disease ◽  
Uniparental Disomy ◽  
Speech Disorders ◽  
Speech Disorder ◽  
Diagnostic Strategy ◽  
Speech Impairment ◽  
Speech And Language ◽  
Childhood Apraxia Of Speech ◽  
Structural Genomic ◽  
Expressive Speech

Pathogenic variants of FOXP2 gene were identified first as a monogenic cause of childhood apraxia of speech (CAS), a complex disease that is associated with an impairment of the precision and consistency of movements underlying speech, due to deficits in speech motor planning and programming. FOXP2 variants are heterogenous; single nucleotide variants and small insertions/deletions, intragenic and large-scale deletions, as well as disruptions by structural chromosomal aberrations and uniparental disomy of chromosome 7 are the most common types of mutations. FOXP2-related speech and language disorders can be classified as “FOXP2-only,” wherein intragenic mutations result in haploinsufficiency of the FOXP2 gene, or “FOXP2-plus” generated by structural genomic variants (i.e., translocation, microdeletion, etc.) and having more likely developmental and behavioral disturbances adjacent to speech and language impairment. The additional phenotypes are usually related to the disruption/deletion of multiple genes neighboring FOXP2 in the affected chromosomal region. We report the clinical and genetic findings in a family with four affected individuals having expressive speech impairment as the dominant symptom and additional mild dysmorphic features in three. A 7.87 Mb interstitial deletion of the 7q31.1q31.31 region was revealed by whole genome diagnostic microarray analysis in the proband. The FOXP2 gene deletion was confirmed by multiplex ligation-dependent probe amplification (MLPA), and all family members were screened by this targeted method. The FOXP2 deletion was detected in the mother and two siblings of the proband using MLPA. Higher resolution microarray was performed in all the affected individuals to refine the extent and breakpoints of the 7q31 deletion and to exclude other pathogenic copy number variants. To the best of our knowledge, there are only two family-studies reported to date with interstitial 7q31 deletion and showing the core phenotype of FOXP2 haploinsufficiency. Our study may contribute to a better understanding of the behavioral phenotype of FOXP2 disruptions and aid in the identification of such patients. We illustrate the importance of a targeted MLPA analysis suitable for the detection of FOXP2 deletion in selected cases with a specific phenotype of expressive speech disorder. The “phenotype first” and targeted diagnostic strategy can improve the diagnostic yield of speech disorders in the routine clinical practice.

scholarly journals The importance of game technology in developing the word formation skills of children with preschool speech disorder

2021 ◽  
Vol 13 (4) ◽  
pp. 1016-1028
Author(s):  
Gaukhar Ibatova ◽  
Aigerim Makhmetova ◽  
Saule Basarbaevna Zhoraeyeva ◽  
Bibinur Amiresheva ◽  
Nyshanova Saltanat Tinibekovna ◽  
...  
Keyword(s):  
Preschool Children ◽  
Key Words ◽  
Speech Disorders ◽  
Word Formation ◽  
Speech Development ◽  
Speech Disorder ◽  
Learning Theories

Game technology has been identified as a means to developing the Word Formation Skills of Children with Preschool Speech Disorder. The purpose of the article was to analyze the psychological and pedagogical conditions of word-formation skills for Kazakh-speaking preschool children with speech disorders on the basis of learning theories and contemporary approaches. To achieve the set aim, we have studied psychophysiological peculiarities of preschool children with speech disorder. We have allocated the most significant learning theories and approaches, which promote the assimilation of word-formation. We have come to understand that the indicators of speech development of many modern Kazakh-speaking preschoolers do not correspond to the age norm, which is influenced by word-formation operations. For Kazakh-speaking preschool children with speech disorders it is rather difficult to distinguish elementary forms as the original word, consisting of a stem and a derivative by including diminutive-affectionate suffixes. Key words: Kazakh-speaking preschool children, psychological and pedagogical conditions, learning theories, approaches, word-formation, speech games

Logopedic technologies of positive socialization of preschool children with speech disorder development

2021 ◽  
pp. 75-80
Author(s):  
Olga Yurievna Muller
Keyword(s):  
Preschool Children ◽  
Speech Therapy ◽  
Speech Disorders ◽  
Speech Development ◽  
Speech Disorder ◽  
Tech Nologies ◽  
Speech Therapist

The article reveals the features of the use of correctional and developmental massage in the work of a speech therapist with preschoolers. Teachers have a need for new studies of speech development of preschoolers and the use of new pedagogical tech- nologies. The urgency and importance of the issue served as the basis for the development of a system of speech therapy technology for the use of developing massage in speech therapy practice. On the basis of the studied methodological literature, the author has developed five blocks of complexes of games and exercises for developmental massage. At the beginning and at the end of the work, preschoolers were diagnosed, which made it possible to see that the developmental massage complexes created by the author allow correcting speech disorders effectively.

TRANSCRIPTIONAL REGULATION OF HYAL-2 HYALURONIDASE BY DE NOVO METHYLATION OF CpG ISLANDS IN BRAIN

Hyaluronan ◽  
2002 ◽  
pp. 187-194
Author(s):  
Günter Lepperdinger ◽  
Birgit Strobl ◽  
Johannes Müllcgger ◽  
Günther Kreil
Keyword(s):  
Transcriptional Regulation ◽  
De Novo ◽  
Cpg Islands ◽  
De Novo Methylation

scholarly journals Quality of life in siblings of autistic patients

2005 ◽  
Vol 27 (1) ◽  
pp. 67-69 ◽  
Author(s):  
Adriana Regina Ferreira Marciano ◽  
Cláudia Ines Scheuer
Keyword(s):  
Quality Of Life ◽  
Mental Disorder ◽  
Speech Disorders ◽  
Speech Disorder ◽  
Control Group ◽  
Psychiatric Diseases ◽  
Inclusion Criteria ◽  
Exclusion Criteria ◽  
School Exclusion

OBJECTIVE: To evaluate the Quality of Life (QoL) among siblings of autistic patients. METHODS: Casuistic: siblings of autistic patients (n = 31) and, as a control group, siblings of patients with speech disorder (n = 30). Inclusion criteria: age between 7 and 11 years old; absence of current mental disorder; regular attendance to school. Exclusion criteria: antecedents of clinical or psychiatric diseases; disabilities (visual, auditive or motor); antecedents of cognitive and/or intelligence disabilities. Instruments included a questionnaire which evaluated the quality of life in a subjective way. RESULTS: it was observed worse QoL among siblings of autistic patients (p = 0.000). CONCLUSION: The hypothesis that the quality of life was compromised in children (aged 7 to 11) by the presence of an autistic sibling was confirmed, and was worse than that of siblings of children with speech disorders.

scholarly journals Childhood Apraxia of Speech. Developmental Speech Patterns. A Wide Retrospective Study

2020 ◽  
Vol 11 (3sup1) ◽  
pp. 54-68
Author(s):  
Elad Vashdi ◽  
◽  
Amit Avramov ◽  
Špela Falatov ◽  
Huang Yi-Chen ◽  
...  
Keyword(s):  
Factor Analysis ◽  
Exploratory Factor Analysis ◽  
Sound Production ◽  
Speech Disorder ◽  
Apraxia Of Speech ◽  
Childhood Apraxia Of Speech ◽  
Motor Speech ◽  
Entry Level ◽  
Motor Speech Disorder ◽  
Speech Patterns

Patterns of a phenomenon define the entity. If one understands the patterns of the maze, he can find his way there. Patterns of colors on a dress will hold its characters and soul. Understanding the expressive patterns of a developmental syndrome enables treating it with success. It is true for treating Childhood Apraxia of speech (CAS) as well. CAS as motor-speech disorder involves difficulties in sounds production for speech purposes. The difficulties can be demonstrated in patterns that would be specific to CAS. These patterns can distinguish one phenomenon from another. A retrospective research was conducted based on 277 entry level evaluations of children diagnosed with CAS or suspected of CAS who visited a private clinic between 2006 and 2013. The analysis included speech variables alongside background and environmental variables. This article is dealing with speech patterns of children with motor speech disorder. Among the patterns examined are vowels ladder, single syllable ladder, Blowing and SSP (single sound production), Oral motor and SSP, Consonant group ladder and Consonants Exploratory factor analysis. The findings demonstrated the relationship and order of vowels, consonants and single syllables among Hebrew speaking children diagnosed with motor speech disorder. The Consonants Exploratory factor analysis gave validity to the existence of unique consonant groups. Further discussion regarding every result and its implication is included. Understanding the unique patterns of consonants and vowels strength among children with CAS can help clinicians in the decision-making process and goals targeting.

scholarly journals Speech disorders in young and preschool children

2018 ◽  
Vol 63 (6) ◽  
pp. 23-30
Author(s):  
K. V. Yagunova ◽  
D. D. Gaynetdinova
Keyword(s):  
Conflict Of Interest ◽  
Clinical Manifestations ◽  
Diagnostic Techniques ◽  
Speech Disorders ◽  
Speech Development ◽  
Speech Pathology ◽  
Speech Therapist ◽  
Unified Classification System ◽  
Development Risk ◽  
Normal Speech

With every coming year more and more children suffer from speech problems, making their parents visit various specialists (pediatrician, neurologist, speech therapist, defectologist), who use their diagnostic techniques to detect speech disorders. The absence of a unified classification system and diagnostics leads to the late correction of speech disorders. The article considers main reasons for disturbances in normal speech development, risk factors of speech pathology, clinical manifestations of some types of speech disorders, various approaches to diagnosis and systematization of speech disorders.Conflict of interest: The authors of this article confirmed the lack of conflict of interest and financial support, which should be reported.

scholarly journals Cognitive phenotype in neurofibromatosis type 1

Engrami ◽  
2020 ◽  
Vol 42 (2) ◽  
pp. 69-79
Author(s):  
Jelena Todorović ◽  
Dragan Pavlović ◽  
Mirna Zelić ◽  
Lana Jerkić
Keyword(s):  
Executive Functions ◽  
Genetic Disorders ◽  
Neurofibromatosis Type ◽  
Speech Disorders ◽  
Speech Development ◽  
High Rate ◽  
Planning Problem ◽  
Preschool Period ◽  
Visuospatial Perception

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.

Give Them a Chance to Talk

PEDIATRICS ◽  
1949 ◽  
Vol 3 (6) ◽  
pp. 869-870
Author(s):  
RUTH W. METRAUX ◽  
CATHERINE S. AMATRUDA
Keyword(s):  
Cerebral Palsy ◽  
Speech Therapy ◽  
Speech Disorders ◽  
Speech Development ◽  
Speech Therapist ◽  
The Common ◽  
Sound Discrimination ◽  
Detailed Outline

This is a small cardboard covered handbook in photo-offset print, designed mainly for the speech therapist working with children handicapped by cerebral palsy. It contains a brief description of cerebral palsy (athetoid, spastic and ataxic), classification and description of the common speech disorders, an outline of the sequences of speech development together with a guide to the assessment of speech (articulatory) maturity, and a description of speech and sound discrimination tests. A detailed outline of the methods of speech therapy used in the athetoid, the spastic, and the ataxic child follows.

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