CONGENITAL AND INFANTILE APHASIA

PEDIATRICS ◽  
1952 ◽  
Vol 9 (1) ◽  
pp. 48-54
Author(s):  
D. W. VAN GELDER ◽  
L. KENNEDY ◽  
J. LAGUAITE

The clinical features of infantile aphasia include failure or delay in development of speech. When speech develops, it is frequently garbled. Hearing and intelligence may be normal although both are difficult to evaluate. Abnormal behavior may appear in these children simply because they lack normal opportunities to express themselves. It is pointed out that many of the children of 4 to 5 years of age with delayed speech development may not simply be "deviates from the norm" but may actually suffer from mild degrees of aphasia. Earlier recognition and proper guidance for milder types of aphasia will depend ultimately on better definition of the pattern and rate of normal speech development. At present, there apparently is little or no agreement either as to frequency or actuality of this syndrome in childhood. Unfortunately, mild cases are apt to be passed over and more severe ones are often tragically mislabeled as mental defectives.

Author(s):  
K. V. Yagunova ◽  
D. D. Gaynetdinova

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.


2021 ◽  
Vol 12 ◽  
Author(s):  
Jiayue Ding ◽  
Xiangyu Li ◽  
Zhiyan Tian

Coexisting anti-NMDAR and MOG antibody (anti-NMDAR-IgG+/MOG-IgG+)-associated encephalitis have garnered great attention. This study aimed to perform a secondary analysis to determine the clinical features of this disease. We searched several databases for related publications published prior to April 2021. A pooled analysis was conducted with the fixed-effects model using the Mante-Haenszel method (I2 ≤ 50%), or the random-effects model computed by the DerSimonian–Laird method (I2 > 50%). Stata software (version 15.0 SE) was used for the analyses. Nine observational studies and 16 case reports (58 cases with anti-NMDAR-IgG+/MOG-IgG+, 21.0 [8.5, 29.0] years, male 58.6%) were included. The incidences (95%CI) of anti-NMDAR-IgG+/MOG-IgG+ in the patients with serum MOG-IgG+ and CSF anti-NMDAR-IgG+ were 0.09 (0.02–0.19) and 0.07 (0.01–0.19), respectively. The median [IQR] of CSF anti-NMDAR antibody titer was 32 [10, 100], and the serum anti-MOG antibody titer was 100 [32, 320]. The prominent clinical symptoms were encephalitic manifestations, including seizures (56.9%) and abnormal behavior (51.7%), rather than demyelinating manifestations, such as speech disorder (34.5%) and optic neuritis (27.6%). Relapse occurred in 63.4% of anti-NMDAR-IgG+/MOG-IgG+ patients, in whom 50.0% of cases relapsed with encephalitic manifestations, and 53.8% relapsed with demyelinating manifestations. The common MRI changes were in the cortex or subcortex (70.7%) and brainstem (31.0%). 31.3% of patients presented with unilateral cerebral cortical encephalitis with epilepsy and 12.5% displayed bilateral frontal cerebral cortex encephalitis. Anti-NMDAR-IgG+/MOG-IgG+ patients showed more frequent mental behavior (OR, 95%CI, 68.38, 1.36–3,434.37), involuntary movement (57.86, 2.53–1,325.11), sleep disorders (195.00, 7.07–5,380.15), and leptomeninge lesions (7.32, 1.81–29.58), and less frequent optic neuritis (0.27, 0.09–0.83) compared to anti-NMDAR-IgG−/MOG-IgG+ patients and presented more common relapse (5.63, 1.75–18.09), preceding infection (2.69, 1.03–7.02), subcortical lesions (116.60, 4.89–2,782.09), basal ganglia lesions (68.14, 2.99–1,554.27), brainstem lesions (24.09, 1.01–574.81), and spinal cord lesions (24.09, 1.01–574.81) compared to anti-NMDAR-IgG+/MOG-IgG−. In conclusion, anti-NMDAR-IgG+/MOG-IgG+ was rarely observed, but the incidence rate of relapse was very high. The overall symptoms seemed to be similar to those of NMDAR encephalitis.


2019 ◽  
Vol 15 (2) ◽  
pp. 79-83
Author(s):  
Павел Токарев ◽  
Pavel Tokarev ◽  
Алексей Шулаев ◽  
Aleksey Shulaev ◽  
Ринат Салеев ◽  
...  

Subject. The article describes the child's speech passport, as one of the important mechanisms of the rehabilitation and speech recovery in children with congenital cleft lip and palate. Purpose of the study ― evaluation of the treatment outcome in children with cleft palate with the use of a speech passport at the stage of rehabilitation. Materials and methods. The article presents the experience of the rehabilitation of more than 2,000 patients with congenital maxillofacial defects from 1998 to 2017. Results. The features of speech development were studied in 93 patients divided into two groups. The main group consisted of 56 people, in whom the definition of the algorithm of medical and logopedic aid was carried out using a speech passport, then the rehabilitation measures complex developed by us for restoring and correcting the speech function was applied. The control group included 37 people: patients who did not receive medical and speech therapy in the postoperative period, and patients who underwent rehabilitation measures in outpatient clinic at the place of residence. The speech activity indicators in patients of the compared groups had significant differences (p = 0,026), due to a more pronounced positive dynamics of speech activity recovery in the main group - the percentage of patients increased 3,6 times ― from 17,9 to 64,3 %, while in the control group the rate increased only 1,9 times ― from 21,6 up to 40,5 %. Conclusion. The developed speech passport involves a multidisciplinary approach to the child, early detection, treatment and rehabilitation. It is also can be defined as a link between health care, speech therapy and pedagogy. The child's speech passport data can be filled by a pediatrician, neurologist, maxillofacial surgeon, orthodontist, speech therapist and speech therapist defectologist at various stages of treatment and rehabilitation.


PEDIATRICS ◽  
1958 ◽  
Vol 21 (6) ◽  
pp. 1053-1054
Author(s):  
HERMAN YANNET

The causes for the failure of adequate speech development in children include deafness of varying degrees and types, mental deficiency, infantile autism, auditory aphasia, and serious emotional disorders related usually to social deprivation. Since the therapeutic approach as well as the prognosis varies greatly in these different conditions, early differential diagnosis is of paramount importance. This book, actually a rather short monograph of some 80 pages (approx imately 20,000 words), summarizes the various clinical features and diagnostic procedures involved in the differential diagnosis.


2015 ◽  
Vol 2015 ◽  
pp. 1-8 ◽  
Author(s):  
Sonia Mayo ◽  
Sandra Monfort ◽  
Mónica Roselló ◽  
Silvestre Oltra ◽  
Carmen Orellana ◽  
...  

Alterations of epigenetic mechanisms, and more specifically imprinting modifications, could be responsible of neurodevelopmental disorders such as intellectual disability (ID) or autism together with other associated clinical features in many cases. Currently only eight imprinting syndromes are defined in spite of the fact that more than 200 genes are known or predicted to be imprinted. Recent publications point out that some epimutations which cause imprinting disorders may affect simultaneously different imprintedloci, suggesting that DNA-methylation may have been altered more globally. Therefore, we hypothesised that the detection of altered methylation patterns in known imprintinglociwill indirectly allow identifying new syndromes due to epimutations among patients with unexplained ID. In a screening for imprinting alterations in 412 patients with syndromic ID/autism we found five patients with altered methylation in the four genes studied:MEG3, H19, KCNQ1OT1, andSNRPN. Remarkably, the cases with partial loss of methylation inKCNQ1OT1andSNRPNpresent clinical features different to those associated with the corresponding imprinting syndromes, suggesting a multilocus methylation defect in accordance with our initial hypothesis. Consequently, our results are a proof of concept that the identification of epimutations in knownlociin patients with clinical features different from those associated with known syndromes will eventually lead to the definition of new imprinting disorders.


1995 ◽  
Vol 6 (4) ◽  
pp. 278-283 ◽  
Author(s):  
Nick Kennedy ◽  
Fiona M Whitelaw ◽  
Jacques Gutmann ◽  
Leslie Berger ◽  
Leonard Uiso ◽  
...  

Summary: Serum β2-microglobulin (β2M) rises in the later stages of HIV disease and has therefore been used to monitor progression to AIDS. However, little work has been done on patients co-infected with HIV and tuberculosis. We studied clinical features and serum β2-M in 35 Tanzanian patients treated for pulmonary tuberculosis (9 HIV-positive, 26 HIV-negative). The provisional WHO clinical definition of AIDS for use in Africa was fulfilled by 89% of the HIV-positive and 65% of the HIV-negative patients. Median serum β2-M on admission was slightly higher in HIV-positive (3.17 mg/l) than in HIV-negative (2.85 mg/1) patients. Serum β2-M fell during treatment in 17/24 (71%) of HIV-negative and 3/7 (43%) HIV-positive patients followed up for 6 months. We conclude that serum β2-M is frequently raised in active tuberculosis, and is therefore an unreliable indicator of the stage of HIV disease in co-infected patients. The WHO clinical definition of AIDS also proved unreliable in patients with tuberculosis.


2013 ◽  
Vol 40 (8) ◽  
pp. 1419-1422 ◽  
Author(s):  
Vinod Chandran ◽  
Dafna D. Gladman ◽  
Philip S. Helliwell ◽  
Björn Gudbjörnsson

Arthritis mutilans is often described as the most severe form of psoriatic arthritis. However, a widely agreed on definition of the disease has not been developed. At the 2012 annual meeting of the Group for Research and Assessment of Psoriasis and Psoriatic Arthritis (GRAPPA), members hoped to agree on a definition of arthritis mutilans and thus facilitate clinical and molecular epidemiological research into the disease. Members discussed the clinical features of arthritis mutilans and definitions used by researchers to date; reviewed data from the ClASsification for Psoriatic ARthritis study, the Nordic psoriatic arthritis mutilans study, and the results of a premeeting survey; and participated in breakout group discussions. Through this exercise, GRAPPA members developed a broad consensus on the features of arthritis mutilans, which will help us develop a GRAPPA-endorsed definition of arthritis mutilans.


2018 ◽  
Vol 21 (1) ◽  
pp. 83-86
Author(s):  
M Budisteanu ◽  
N Bögershausen ◽  
SM Papuc ◽  
S Moosa ◽  
M Thoenes ◽  
...  

Abstract Floating-Harbor syndrome (FHS) is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded speech development, intellectual disability and dysmorphic facial features. Recently, dominant mutations almost exclusively clustered in the final exon of the Snf2-related CREBBP activator protein (SRCAP) gene were identified to cause FHS. Here, we report a boy with short stature, speech delay, mild intellectual disability, dysmorphic features, and with genetically confirmed FHS. To the best of our knowledge, this is the first molecularly confirmed case with this syndrome reported in Romania. An intensive program of cognitive and speech stimulation, as well as yearly neurological, psychological, ophthalmological, otorhinolaryngological, pediatric and endocrinological monitoring for our patient were designed. We propose a checklist of clinical features suggestive of FHS, based on the main clinical features, in order to facilitate the diagnosis and clinical management of this rare condition.


Author(s):  
Natalya Shcherbakova

Представлено исследование становления связной речи детей дошкольного возраста с нормой и нарушениями речевого развития. Проанализированы концепции ведущих отечественных ученых относительно изучения особенностей речевого развития у детей с общим недоразвитием речи. В рамках данной проблемы актуальным является рассмотрение вопросов формирования навыков самостоятельного построения рассказа у старших дошкольников с нормой и нарушениями речевого развития. Это связано с тем, что овладение рассказыванием представляет собой качественный переход на абсолютно новый уровень речемыслительной деятельности, что имеет значение в общем психическом развитии ребенка. Обосновывается мысль о том, что дошкольный возраст является благоприятным для интенсивного развития монологической речи, связного высказывания. Дошкольники в полной мере усваивают навыки владения семантическим, синтаксическим и морфологическим строем родного языка. Рассматриваются и обобщаются особенности речевого развития детей дошкольного возраста с общим недоразвитием речи. Приводятся эмпирические данные относительно ошибок в освоении детьми дошкольного возраста навыков самостоятельного построения рассказа. Достоверность результатов обоснована сравнительным анализом особенностей формирования построения рассказа детьми дошкольного возраста с общим недоразвитием речи и нормой речевого развития. С помощью сравнительного анализа выявляются словарные, грамматические, синтаксические затруднения детей дошкольного возраста в построении связного высказывания. Обосновывается необходимость разработки рекомендаций по коррекции особенностей самостоятельного составления рассказа у старших дошкольников с общим недоразвитием речи. This article is devoted to the study of the formation of coherent speech of preschool children with normal and impaired speech development. The article analyzes the concept of the leading Russian scientists to study the features of speech development in children with general underdevelopment of speech. Within the framework of this problem, it is urgent to consider the issues of formation of an independent construction of a story in older preschoolers with the norm and disorders of speech development. This is due to the fact that the mastery of storytelling is a qualitative transition to a completely new level of verbal activity of a child, which is important in the overall mental development of a child. The idea that preschool age is favorable for intensive development of monological speech and coherent utterance is substantiated. Preschoolers fully learn the skills of semantic, syntactic and morphological structure of the native language. The article discusses and summarizes the features of speech development of preschool children with General underdevelopment of speech. The article presents empirical data on the errors in the development of independent storytelling in preschool children. The reliability of the results is substantiated by the comparative analysis of the peculiarities of formation of the plot of preschoolers with general underdevelopment of speech and normal speech development. On the basis of the comparative analysis, vocabulary, grammar and syntactic difficulties of preschool children in construction of the coherent statement are revealed. In conclusion, on the basis of the above conclusions, the need to develop recommendations for correcting the features of self-compilation of a story among older preschoolers with general underdevelopment of speech is justified.


2020 ◽  
Vol 8 (2) ◽  
pp. 7
Author(s):  
Yu. A. Bazhenova ◽  
Yu. S. Mokhova

Introduction. The article is devoted to the study of the features of inflection skills of the preschoolers with a general speech disorders. The problem of studying the grammatical structure of speech plays a leading role in modern scientific and practical research, and the question of the mechanisms of the formation of grammatical patterns of language of children having general speech underdevelopment and the development of recommendations for speech therapy effects on this basis is especially relevant. Taking this factor into consideration, it is important to study the characteristics of inflection skills of preschoolers with a general speech disorders, as one of the categories of the grammatical structure. Accordingly, the purpose of the study was to investigate the characteristics of inflection skills of preschoolers with general speech underdevelopment. In accordance with the purpose, the course of the study is described, its results are analyzed, and conclusions are formulated. Accordingly, recommendations for speech therapy have been developed.Materials and methods. The study of the features of inflection skills of preschoolers with a general underdevelopment of speech was carried out in several stages. At the stage of analysis, synthesis, generalization and comparison of scientific literature data, the main theoretical and practical works of leading specialists were studied, dealing with the problem of formation and development of inflection skills in both normal and impaired speech development process. At the stage of the ascertaining experiment, preschoolers were offered a test aimed at determining the level of formation of inflection skills. At the final stage, empirical methods for processing empirical data (quantitative and qualitative analysis) were used.Results. As a result of the study, it was found that the inflection skills  of preschool children with general speech disorders are mainly formed at a lower-than-average level, while their peers with normal speech development are formed at a high level. The hypothesis of the study, which suggested that the word-modification skills of preschoolers with General speech disorders, in contrast to preschoolers with normal speech development, are characterized by inconsistencies in gender, number, case of nouns and adjectives, errors in the use of forms of number and gender of verbs, was confirmed.Discussion and Conclusions. Taking into consideration the results of the study, we concluded that there is a need for speech therapy to compensate for the underdevelopment of inflection skills, as a result, logopedic recommendations were developed for developing inflection skills of preschool children with general speech disorders, which are part of a comprehensive speech therapy on the development of oral speech.


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