Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies

Background Achondroplasia (ACH), the most common form of disproportionate short stature, is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent advances in drug therapy for ACH have highlighted the importance of elucidating the natural history and socioeconomic burden of this condition. Recognition that there are many potential issues for the patient with ACH is the first step in planning cost-effective interventions in Latin America (LATAM), a vast geographic territory comprising countries with multicultural characteristics and wide socioeconomic differences. We conducted a systematic literature review to characterize the impact of ACH on affected individuals and on healthcare resources in LATAM countries. Methods Searches of the global medical literature as well as regional and local medical literature up to August 2020. Observational studies on patients with ACH from any LATAM country. Pairs of reviewers independently screened eligible articles, extracted data from included studies, and assessed their risk of bias. Results Fifty-three unique studies (28 case series and cross-sectional studies and 25 case reports) including data on 1604 patients were eligible. Of these studies, 11 had data available for meta-analysis. Both premature mortality and all-cause mortality in the pooled studies was 15% [95% Confidence Interval (CI) 1.0E−3 to 0.47; I2 = 82.9%, p = 0.0029; three studies, n = 99 patients]. Frequency of cardio-respiratory-metabolic disorders was 17% [95% CI 0.04–0.37; I2 = 90.3%, p < 0.0001; four studies, n = 230 patients]; nervous system disorders was 18% [95% CI 0.07–0.33; I2 = 84.6%, p < 0.0001; six studies, n = 262 patients]; ear, nose, throat and speech disorders was 32% [95% CI 0.18–0.48; I2 = 73.4%, p = 0.0046; five studies, n = 183 patients]; and spinal issues including stenosis, compression and associated pain was 24% [95% CI 0.07–0.47; I2 = 91.3%, p < 0.0001; five studies, n = 235 patients]. Conclusions There is currently evidence of high clinical burden in ACH patients in LATAM countries. Establishing the impact of ACH provides the necessary foundation for planning tailored and effective public health interventions.

Exceptional Children

In addition to the children who show typical development, there are also children who show atypical development. Individuals whose development varies compared to their peers and whose differences are identified by experts are called individuals with special needs. Individuals with special needs can be children with intellectual disabilities, sight, hearing impairment, language and speech disorders, physical disability and chronic illness, specific learning difficulties, children with autism spectrum disorder and gifted children. The causes of special needs are generally prenatal causes, which can often be hereditary and can be classified as natal and postnatal. The identification of individuals with special needs from early ages and the use of appropriate intervention methods are vital for these children. Children who are happy and a future producing part of society due to early recognition and accurate education methods are directly related to the quality of the intervention performed.

The Impact of Multisensory Stimulation of Biological Organs in Dysarthria Patients as Articulation Skills Rehabilitation

Every human being tries to communicate what he wants to say to whatever or whomever he wants. Dysarthria is a condition in which the muscles in humans that are active when speaking become weak or difficult to control. Problems or speech disorders experienced by a child with dysarthria are obstacles to children's social and personal adjustment. Schoolchildren who mispronounce the words will feel ashamed and alien from others. This problem motivates the presence of Multisensory Stimulation therapy to help improve and even restore speech problems or disorders experienced by children with dysarthria. This study tries to explain the impact of Multisensory Stimulation therapy and then evaluates the results of the application of Multisensory Stimulation therapy to children with dysarthria. The study that took five sufferers as the object of this study used a hybrid approach that mutually used a qualitative and quantitative perspective. The type of research used is classroom action research. This study concluded that the participants' enthusiasm greatly influenced the process and outcome of therapy.

Studying peculiarities of variability of speech, language and motor processes in children with dysarthria

Introduction. The author investigates the problem of communicative development of children with dysarthria. The purpose of the research is to reveal the characteristic features of the variability of speech and motor processes in children with dysarthria (in particular, with a mild degree of pseudobulbar dysarthria) and to prove the existence of comorbidity levels of the disorders under study. Materials and Methods. The research is based on international and Russian refereed studies into language and speech, movements for organizing the communicative development of children with dysarthria (L. V. Lopatina, O. G. Prikhodko, T. V. Tumanova, T. B. Filicheva, G. V. Chirkina, Michael Robb, Kathleen Wermke). The research program was complemented by the application of an innovative technology based on biofeedback - Pablo System. The experimental study was conducted at preschool educational settings in Moscow (the Russian Federation). The sample consisted of 450 older preschool children with dysarthria (with a mild degree of pseudobulbar dysarthria) and a similar number of peers without speech disorders. Results. The article describes a modern interdisciplinary problem of studying speech and language and movement disorders in children with dysarthria (mild degree of pseudobulbar dysarthria, erased dysarthria, minimal dysarthric disorders) in the context of determining their codependency and conjugation. The study revealed variative characteristics of speech and language disorders and movement disorders in children with dysarthria. General and specific errors of speech and language and motor disorders in preschoolers of the experimental group were determined. The levels of comorbidity of speech-language and motor processes in children with dysarthria have been identified and scientifically substantiated. Conclusions. In conclusion, the author summarizes the main features of the variability of speech, language and motor processes in children with dysarthria.

Development of intellectual and creative abilities as a pedagogical phenomenon

The paper is devoted to the study of divergent thinking as one of the structures of intellectual and creative development of primary school children with speech disorders. The methodological foundations of the research problem are analyzed. The tools for the study of divergent thinking for primary school children are selected. The main components of divergent thinking of young schoolchildren in the context of their general intellectual and creative development are highlighted. The concepts of intellectual and creative development, divergent thinking, typology of primary school children with speech disorders are specified. In the course of the study, objective indicators of the development of divergent thinking were obtained, as well as the features of this type of thinking in younger schoolchildren with speech disorders. The author shows the features of divergent thinking of younger students. The results obtained can help teachers in the development and selection of adequate methods and techniques in correctional and developmental work with younger students with speech disorders.

Treatment of Cognitive and Behavioral Disorders in Children Using Transcranial Magnetic Stimulation: Literature Review

Speech disorders have the leading position among cognitive disorders and represent the urgent medical problem. The modern approach to the treatment of cognitive and behavioral disorders in children consists of the integrity of pharmacotherapeutic, correctional and psychotherapeutic, as well as non-invasive instrumental methods of brain neurostimulation. This article provides the overview of the currently available data on transcranial magnetic stimulation method as noninvasive treatment of various neuropsychiatric disorders in children and its difference from physiotherapeutic methods used in traditional Russian practice.

EXPERIENCES OF PEOPLE LIVING WITH HIV/AIDS IN SURVIVING LIFE

Background: Fear of contracting HIV in the community causes discrimination and stigma to people living with HIV/AIDS (PLWHA) because people still consider HIV/AIDS taboo. Many of the sufferers struggle to reveal their HIV status to others, but they get negative results such as rejection, stigmatization and even discrimination which can be a high psychological burden. Stigma and discrimination against PLWHA are the main obstacles to achieving a good quality of life. Objectives: This study is intended to explore the in-depth experiences of people living with HIV/AIDS in surviving life. Methods: This research is a phenomenological case study. The sample in this study amounted to three people who were recruited from Healthy Loving Care Foundation Semarang City. The sample was determined using a purposive sampling technique according to the inclusion criteria, that is age 20 and 50 years, diagnosed with HIV/AIDS, conscious, cooperative, not experiencing cognitive, hearing and speech disorders, willing to participate in the study by signing the informed consent. The data was collected by in-depth online interviews and then recorded in transcripts and analyzed using Amedeo Giorgi's data analysis technique. Results: This study showed that participants experience adversity due to HIV/AIDS but the participants get out of their slump by accepting their illness, taking treatment, finding a support system and becoming a positive people. The participants also in living their lives keep their illness a secret to survive so as not to experience bad stigma or discrimination. The results of this study reveal one main theme, Experiences of People living with HIV in Surviving life. Conclusion: This study found the support received by participants and the response of participants to their condition as an effort to survive their lives.

Correction of speech disturbances in elevated form of dysartria in elder preschool children

This article discusses the use of speech therapy rhythmics in order to correct speech disorders in preschoolers with an erased form of dysarthria. In the course of this work were in s manifest features of tempo-rhythmic organization of speech of children with the erased form of dysarthria; the positive influence of speech therapy rhythmics on children of this category is described and examples of effective exercises in the process of its use are given.

The Problem of Mental Development in Children with Autistic Disorders

The clinical-psychological-pedagogical picture of autistic personality disorders of a child is highly complex and diverse compared to other mental development disorders. The divergence of researchers' views on the autism clinic leads to a scientific discussion on the problem of conceptual and terminological base of definitions and concepts, so, as a consequence, the problem has a conceptual and diagnostic orientation. Summarizing the research of scientists, we highlight the characteristic manifestations of autism in older preschool age: lack of mental activity; violation of the interaction of mental functions; unevenness, partialness of intellectual development; gross violations of purposefulness and arbitrariness of attention; lack of lively interest, interest in the new, environmental research; the tendency to perceive information as if passively absorbing it into whole blocks; the reaction of departure from the influences of the environment directed on the child; adverse reaction or no reaction at all when trying to draw attention to the objects of the surrounding reality; rapid exhaustion and oversaturation with any purposeful activity; difficulty concentrating; difficulties in symbolization, transfer of skills from one situation to another; impaired formation of social and communicative functions. Having analyzed many scientific studies, we can determine the number and variety of speech disorders in children with autistic disorders: challenging to interpret crying; limited barking; lack of imitation of sounds; phonography of speech; mutism; echolalia; words-stamps, phrases-stamps; neologisms; limited use of pronouns; lack of speech in speech; speech autonomy; speech disorders; inability to form words; violation of the semantic, syntactic, grammatical structure of speech; violation of speech melody; violation of prosodic components of speech; inability to engage in dialogue; specificity of the development of monologue speech.

Speech Disorders in Dysgnathic Adult Patients in the Field of Severity of Primary Dysfunction

The normative functioning of the stomatognathic system and masticatory apparatus requires specific coordination between several structures such as teeth with good occlusion, tongue without ankyloglossia or thrusting, and well-balanced facial muscles. This study aimed to evaluate the influence of non-normative primary functions such as breathing, swallowing, biting and chewing on the consonant pronunciation outcome in adults affected with facial skeletal deformities. Moreover, the authors would like to promote a new kind of speech therapy-orthognathic speech therapy. A total of 181 adults affected by skeletal class II and III malocclusion were included, along with the relationship between the malocclusion, speech deficiency (20 phonemes tested) and primary function disorders, in the subjects before and after surgical correction. The impact of surgery on pronunciation and primary function improvement and types of Polish phonemes most often misarticulated by Polish adults were also examined. Patients underwent combined treatment and received a full speech pathology examination. The treatment improved speech (p < 0.05), and primary functions (p < 0.05). Palatal, alveolar (p < 0.05), fricatives (p < 0.05), and labiodental consonant pronunciation (p < 0.05) improved. The surgical correction of malocclusion leads to better oral motor control and articulation of Polish consonants in adults.