Speech Development Research Articles

Hearing, speech, and language outcomes in school-aged children after cleft palate repair.

Following primary cleft palate repair, individuals face a heightened risk of hearing problems, particularly conductive hearing loss, compensatory articulation disorders (CADs), resonance disorders, delayed speech and language development, and voice disorders. This study aimed to investigate the prevalence and impact of these challenges in children with cleft palate with or without cleft lip (CP± L). This cross-sectional study included 38 children with CP± L aged 5 to 13 years. A comprehensive evaluation involved audiological assessments (audiograms, tympanograms) by an audiologist and speech-language pathology assessments (Thai Speech Parameters for Patients with Cleft Palate, Articulation Screening Test) by speech-language pathologists. The prevalence of hearing loss affected 27.63% of participants (21 out of 76 ears) and majority of cases involved conductive hearing loss. Velar substitution was the most common CAD, followed by nasalized voiced pressure consonants, phoneme-specific nasal air emission, and pharyngeal substitution. A moderate correlation was found between these CAD patterns and hypernasality at the word, sentence, and screening levels (r= 0.44, p< 0.01; r= 0.43, p< 0.01; and r= 0.40, p= 0.01). For summary, the most common type of hearing loss was conductive hearing loss. The predominant CAD pattern was velar substitution. The protocol could be designed to enhance early improvement in hearing and articulation, thereby supporting academic achievement and long-term quality of life.

Testing the relationship between preferences for infant-directed speech and vocabulary development: A multi-lab study.

From early on, infants show a preference for infant-directed speech (IDS) over adult-directed speech (ADS), and exposure to IDS has been correlated with language outcome measures such as vocabulary. The present multi-laboratory study explores this issue by investigating whether there is a link between early preference for IDS and later vocabulary size. Infants' preference for IDS was tested as part of the ManyBabies 1 project, and follow-up CDI data were collected from a subsample of this dataset at 18 and 24 months. A total of 341 (18 months) and 327 (24 months) infants were tested across 21 laboratories. In neither preregistered analyses with North American and UK English, nor exploratory analyses with a larger sample did we find evidence for a relation between IDS preference and later vocabulary. We discuss implications of this finding in light of recent work suggesting that IDS preference measured in the laboratory has low test-retest reliability.

The clinical and genetic spectrum of paediatric speech and language disorders.

Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the genetic basis of linguistic differences as separate phenotypic subgroups has been limited so far. Here, we performed an in-depth characterization of speech and language disorders in 52 143 individuals, reconstructing clinical histories using a large-scale data-mining approach of the electronic medical records from an entire large paediatric healthcare network. The reported frequency of these disorders was the highest between 2 and 5 years old and spanned a spectrum of 26 broad speech and language diagnoses. We used natural language processing to assess the degree to which clinical diagnoses in full-text notes were reflected in ICD-10 diagnosis codes. We found that aphasia and speech apraxia could be retrieved easily through ICD-10 diagnosis codes, whereas stuttering as a speech phenotype was coded in only 12% of individuals through appropriate ICD-10 codes. We found significant comorbidity of speech and language disorders in neurodevelopmental conditions (30.31%) and, to a lesser degree, with epilepsies (6.07%) and movement disorders (2.05%). The most common genetic disorders retrievable in our analysis of electronic medical records were STXBP1 (n = 21), PTEN (n = 20) and CACNA1A (n = 18). When assessing associations of genetic diagnoses with specific linguistic phenotypes, we observed associations of STXBP1 and aphasia (P = 8.57 × 10-7, 95% confidence interval = 18.62-130.39) and MYO7A with speech and language development delay attributable to hearing loss (P = 1.24 × 10-5, 95% confidence interval = 17.46-infinity). Finally, in a sub-cohort of 726 individuals with whole-exome sequencing data, we identified an enrichment of rare variants in neuronal receptor pathways, in addition to associations of UQCRC1 and KIF17 with expressive aphasia, MROH8 and BCHE with poor speech, and USP37, SLC22A9 and UMODL1 with aphasia. In summary, our study outlines the landscape of paediatric speech and language disorders, confirming the phenotypic complexity of linguistic traits and novel genotype-phenotype associations. Subgroups of paediatric speech and language disorders differ significantly with respect to the composition of monogenic aetiologies.

Input, Universals, and Transfer in Developing Rhotics: A Sketch in Bilingualism

Understanding the role of input in bilingual phonological acquisition is revealing for deciphering the workings of language acquisition processes. Input and usage distributional frequencies guide and differentiate speech sound acquisition patterns cross-linguistically. Such processes are operant in first- and second-language acquisition. There is an under-representation of investigations on how context-specific input in bilingualism influences the early acquisition of rhotics in child developmental speech longitudinally. This study addresses the gap by tracing a Greek/English bilingual girl’s rhotic development between ages 2;7 and 3;11, utilizing naturalistic data during daily interactions with an adult interlocutor. The study reports and schematically illustrates the child’s bilingual usage frequencies, informing language choice in her production variables, which demonstrate, quantitatively and qualitatively, the effects of context-specific input on rhotic accuracy levels and substitution patterns in both languages. Specifically, distributional frequencies in the input govern the child’s phonemic and phonetic tendencies in the languages. Findings are compared with previous reports in the literature and enhance language acquisition theory, revealing the pivotal role of input in the dynamic interplay with developmental universals, language-specific tendencies, transfer, and individual variation.

The Effects of Home Language Use on Spanish Speech Measures in Bilingual Children With Hearing Loss Who Use Cochlear Implants and Their Peers With Normal Hearing.

The purpose of this study was to investigate how the amount of home language use between the primary caregiver and bilingual Spanish- and English-speaking children with hearing loss who use cochlear implants (CIs) versus their bilingual age-matched peers with normal hearing (NH) can impact speech outcomes in the home language. Thirty-four bilingual Spanish- and English-speaking children (17 CI users and 17 with NH) between the ages of 5;3 and 7;9 (years;months) participated in this study. Independent variables were the amount of home language use with the primary caregiver and hearing status, and dependent variables were vowels and consonants correctly produced and occurrence of selected phonological processes. The amount of home language use was ascertained from surveys, and the dependent measures were based on a single-word picture elicitation task. Bilingual children with CIs who are exposed to Spanish for more than 80% of the time via their primary caregiver performed better on Spanish segmental accuracy measures than those who are exposed to Spanish from only 20% to 50% of the time, specifically on vowels (partial η2 = .31) and consonants (partial η2 = .025). Children with NH outperformed children with CIs on all accuracy measures in Spanish. Preliminary results suggest the importance of language exposure through interactions with the primary caregiver for speech development in bilingual children. Future studies should investigate strategies to facilitate home language development in bilingual children with CIs, enabling them to reach their full potential.

Automated Detection of Neurodevelopmental Disorders Using Face-to-Face Mobile Technology Among Typically Developing Greek Children: Randomized Controlled Trial.

Neurodevelopmental disorders (NDs) are characterized by heterogeneity, complexity, and interactions among multiple domains with long-lasting effects in adulthood. Early and accurate identification of children at risk for NDs is crucial for timely intervention, yet many cases remain undiagnosed, leading to missed opportunities for effective interventions. Digital tools can help clinicians assist and identify NDs. The concept of using serious games to enhance health care has gained attention among a growing group of scientists, entrepreneurs, and clinicians. This study aims to explore the core principles of automated mobile detection of NDs in typically developing Greek children, using a serious game developed within the SmartSpeech project, designed to evaluate multiple developmental domains through principal component analysis (PCA). A total of 229 typically developing children aged 4 to 12 years participated in the study. The recruitment process involved open calls through public and private health and educational institutions across Greece. Parents were thoroughly informed about the study's objectives and procedures, and written consent was obtained. Children engaged under the clinician's face-to-face supervision with the serious game "Apsou," which assesses 18 developmental domains, including speech, language, psychomotor, cognitive, psychoemotional, and hearing abilities. Data from the children's interactions were analyzed using PCA to identify key components and underlying principles of ND detection. A sample of 229 typically developing preschoolers and early school-aged children played the Apsou mobile serious game for automated detection of NDs. Performing a PCA, the findings identified 5 main components accounting for about 80% of the data variability that potentially have significant prognostic implications for a safe diagnosis of NDs. Varimax rotation explained 61.44% of the total variance. The results underscore key theoretical principles crucial for the automated detection of NDs. These principles encompass communication skills, speech and language development, vocal processing, cognitive skills and sensory functions, and visual-spatial skills. These components align with the theoretical principles of child development and provide a robust framework for automated ND detection. The study highlights the feasibility and effectiveness of using serious games for early ND detection in children. The identified principal components offer valuable insights into critical developmental domains, paving the way for the development of advanced machine learning applications to support highly accurate predictions and classifications for automated screening, diagnosis, prognosis, or intervention planning in ND clinical decision-making. Future research should focus on validating these findings across diverse populations integrating additional features such as biometric data and longitudinal tracking to enhance the accuracy and reliability of automated detection systems. ClinicalTrials.gov NCT06633874; https://clinicaltrials.gov/study/NCT06633874. RR2-https://doi.org/10.3390/signals4020021.

Специфика усвоения диалоговых навыков дошкольниками с расстройствами аутистического спектра

&lt;p style="text-align: justify;"&gt;&lt;strong&gt;Objectives. &lt;/strong&gt;The variability of disorders in the formation of dialog skills of preschoolers with autism spectrum disorders (ASD) does not always depend on the level of intellectual development. In issues of speech development, it is important to take into account both the specifics of understanding the reversed speech at the level of interrogative statements, and the aspects of structuring and semantics of the answer proposed by the child with ASD himself. In order to study the specifics of mastering the basic conversational skills by children with ASD who have unimpaired intellect, a special pilot study was designed and conducted.&lt;/p&gt; &lt;p style="text-align: justify;"&gt;&lt;strong&gt;Methods.&amp;nbsp;&lt;/strong&gt;The peculiarities of understanding questions of various purposes and structures by students of the age of 5&amp;mdash;7 years (group 1 &amp;mdash; 51 children) with unimpaired intellect and ability of verbal communication were studied. Children of group 1 and preschoolers of group 2 of younger age (from 3 years 10 months to 5 years 2 months, a total of 28 participants) were presented with 48 questions, hierarchically organized based on ontogenetic patterns associated with the formation of cognitive concepts, which are accessible to a typically developing child by a certain age. The results obtained in both groups were compared.&lt;/p&gt; &lt;p style="text-align: justify;"&gt;&lt;strong&gt;Results.&amp;nbsp;&lt;/strong&gt;Only 2.3% of the proposed 3,708 questions remained unanswered, and the number of correct (adequate) answers, depending on age, tended to increase (for example, preschoolers with ASD of 4 years gave 68% correct answers, preschoolers of 5 years &amp;mdash; 73%). The study shows that, in terms of nature and specifics of dialog skills, students with ASD 5-7 years old have no significant differences from the typically developing preschoolers of a younger age group: the number and quality of correct answers from children with ASD at the age of 6 years is comparable with the number of correct answers from typically developing preschoolers of 4 years old.&lt;/p&gt; &lt;p style="text-align: justify;"&gt;&lt;strong&gt;Conclusions.&amp;nbsp;&lt;/strong&gt;In the process of forming dialog skills in the structure of developmental education for children with ASD, the teacher should rely solely on the traditional spontaneous question-and-answer method, they should also consider the semantics and pragmatics of the proposed lexical material. The data obtained will be useful for special education teachers in selecting the content for speech development, taking into account the individual typological characteristics of children with ASD.&lt;/p&gt;

INTERVENSI DINI BAHASA DAN BICARA ANAK SPEECH DELAY

Language development is one indicator of the overall development of the achievement of cognitive abilities of children Language and speech delays must be recognized by parents from an early age, so that the management provided can maximize the language and speech capacity of children. This research was conducted to describe strategies for implementing early language and speech interventions. talk to children with speech delay The research method used is a qualitative approach with a case study design. This research was conducted at the Happy Living Tesbatan Amarasi PAUD with a total of five children aged 4 years. Data collection techniques through observation, interviews and documents (diaries, checklist documents instrument for assessing achievement of language and speech development, video of early intervention program activities) Method of data analysis using descriptive analysis with a qualitative approach Based on the results of the discussion it can be concluded that there is an increase in language and speech of children with speech delay after being given early intervention Improved language and speech skills can be proven from the results checklist instrument by marking the achievement of language and speech indicators, namely children are able to answer simple questions, express feelings with adjectives, express wishes and mention familiar words

Result of consistent use of hearing aid in speech and language development.

Objective: To determine the benefits of proper guidance and proper use of hearing aid in language development age. Study Design: Descriptive Cross-sectional study. Setting: Department of ENT, Abbasi Shaheed Hospital and Karachi Medical and Dental College. Period: January 2022 to December 2023. Methods: In this study those cases were included which came with hearing loss. Both sexes were included in this study. After informed consent complete history and examination was done. Also relevant investigations were performed where required. Results: In this study, male were 72 (60%), male female ratio was 1.5:1. Highest number of patients were between the age of 6-8 years 60 (50%). Between 1.5 to 3 years, 51 children were properly guided and followed the proper instruction of use of hearing aid while 9 children were not properly guided and not properly used of hearing aid. 92 patients (76.6%) used hearing aid consistent with proper guidance, in which 79 (85.8%) children developed good speech and language. while 13 (14.1%) children were found poor in speech and language development while 28 (23.33%) children did not use hearing aid properly and all found poor in speech and language. Conclusion: Proper use of hearing aid which may be beneficial in improvement of word recognition and speech development in hearing impaired child under proper guidance and training from otologist and audiologist.

THE PSYCHOEDUCATION OF LANGUAGE DISORDERS IN EARLY CHILDHOOD FOR PARENTS AND TEACHERS AT ECC DEWI SARTIKA MOJOKERTO

Introduction: Based on an initial survey conducted among parents, prospective parents, and educators at ECC Dewi Sartika, Mojokerto, it was found that 19% of people did not know about language disorders in early childhood. In addition, 29.3% of respondents did not know about the impact and urgency of handling language disorders in children. A total of 36.2% of respondents did not know about the symptoms or indications of language disorders in children, and as many as 58.6% of respondents did not know about how to treat children with language disorders, especially in early childhood. The purpose of giving psychoeducation is increasing knowledge and attitude of those directly involved in the child's growth and development process, so they can find out an overview of the development of language and speech in children. Methods: The psychoeducation program is in the form of an interactive talk show conducted online through one of the video conference platforms. The target participants consisted of 8 teachers, 30 parents or caregivers, and 10 other parties who are directly or indirectly involved in the care and guidance of early childhood. Participants were given a pretest and post test to measure their knowledge and attitude towards language disorders in early childhood. The results obtained will be analyzed using a t-test with the Jamovi version 2.2.5 application. Results: The difference in the mean score is 16,842 (CI95 = [∞, 14,135]), the delivery of promotive interventions in the form of psychoeducation has a significant effect on increasing knowledge and attitudes towards language disorders in early childhood (t(48) = 10,495, p=&lt;.001 , Cohen's d=1,702). Conclusion: This psychoeducation program is able to increase participants' understanding and attitude towards of language disorders in early childhood.

Longitudinal follow-up of hearing, speech, and language skills in 6-year-old children with congenital moderate hearing loss

ObjectivesChildren born with moderate hearing loss present with speech and language outcomes at both ends of the spectrum. To explore reasons for this, the objective of this study was to follow up a group of children born with moderate sensorineural hearing loss at 6 years of age (n=7) by investigating their outcomes in hearing, speech, and language development from time point of hearing aid fitting at 6 months. Another objective was to investigate the relationship between earlier outcomes on precursing variables to the current status in auditory, speech and language development. MethodEarlier data from a project with the same participants of auditory variables, speech, and language development were compared to the current study outcomes at 6 years of age. Children in this study performed standardized tests of phonology (SVANTE), expressive vocabulary (BNT), and speech-in-noise test (Hagerman´s sentences). Parents reported on their child´s functional auditory performance in everyday life (PEACH), and demographics and general development (questionnaire). Etiology and frequency of speech and language-directed intervention from time point of diagnosis to 6 years of age were collected through medical journals. ResultsHearing levels were stable over time in all children but one, who had received bilateral cochlear implants. Performance on speech-in-noise testing varied in aided condition (-0.8 to 8, mean 2.65, SD 3.09) and unaided condition (7.2 dB to 21.2 dB, mean 12.06, SD 4.82). Scores on the PEACH indicated further review in four of the seven children. Mean group score on consonant proficiency had increased from 3 to 6 years of age and were within age norms. Vocabulary scores were below the norms of children with typical hearing. Outcomes on vocabulary measures at 2.5 years years showed strong correlations that were significant to scores on the BNT at 6 years of age (r = 0.87, p = 0.05). Correlations between hours of hearing aid use and vocabulary was not significant at 6 years of age. The frequency of intervention sessions in the first 6 years varied between participants (4 to 55, mean 19.1, SD 17.1). ConclusionDespite homogeneous hearing and other background variables in the participants from birth, large individual variations in speech and language outcomes at 6 years of age were found. Considering the many factors involved that impact the development of children with moderate hearing loss, the results suggest that monitoring early precursors in auditory, speech and language development may be helpful in setting commensurate goals for each child. Detecting additional conditions that may pose challenges in future speech and language as early as possible is important. There is ample room for improvement in terms of increasing the frequency of intervention for children with moderate hearing loss and their families.

Vocal Characteristics of Children With Cerebral Palsy and Anarthria.

This study aimed to investigate the vocal characteristics of children with cerebral palsy (CP) and anarthria using the stage model of vocal development. Vocal characteristics of 39 children with CP and anarthria around 4 years of age were analyzed from laboratory-based caregiver-child interactions. Perceptual coding analysis was conducted using the Stark Assessment of Early Vocal Development-Revised to examine vocal complexity, volubility, and consonant diversity. Children predominately produced vocalizations corresponding to the two earliest stages of vocal development characterized by vowel-like utterances. They showed a limited attainment of consonantal features with low consonant diversity and variably low vocal rates. Our results demonstrate that underlying neurological impairments resulting in an anarthric status in children with CP affect the progression of speech motor development and their ability to advance beyond early vocal stages. These findings highlight the importance of considering alternative communication modalities for children demonstrating similar vocal characteristics beyond expected periods of development.

СПОСОБЫ ФОРМИРОВАНИЯ СВЯЗНОЙ МОНОЛОГИЧЕСКОЙ РЕЧИ У УЧАЩИХСЯ МЛАДШЕГО ШКОЛЬНОГО ВОЗРАСТА

In this paper, the author has considered in detail the ways of forming coherent monological speech in primary school age students. Analyzing in detail the issues of coherent oral and written monologue, the author proposes to determine the requirements for the speech of students. The author has done a lot of systematic work on collecting material, analyzing teaching methods in the process of working on the development of students' speech. The author offers a number of effective exercises that contribute to the formation of correct, accurate, logical, meaningful, clear, expressive oral and written monologue speech of primary school students. The analysis of the dynamics of improving the coherent monological speech of students allowed us to come to scientifically sound conclusions. The development of students' coherent speech is a long process and success can be achieved through long, painstaking work with students.

Stimulation of Auditory Perception in Children Using Maria Montessori’s Developmental Materials

Auditory perception is an important area of a child’s cognitive development because it determines the development of speech and influences writing and reading skills. Irena Polewczyk defines it as “active reception of auditory stimuli scattered around a person, based on the ability to differentiate speech sounds and their analysis, synthesis and interpretation in accordance with the knowledge, memory and experience that a person has” (Polewczyk, 2017, p. 149). The human body is adapted to receive impressions from the outside world; it segregates, processes and interprets them in the mind. In this way, a person acquires experiences that determine the development of subsequent, more and more precise skills. In the process of developing auditory perception, an important role is played by the child’s immediate environment, which, through appropriate interactions, influences the process of shaping auditory functions. The aim of this article is to present theoretical assumptions regarding the development of auditory perception and the possibilities of stimulating auditory development through the use of Maria Montessori’s teaching aids. The first part of the article describes the development of auditory perception in children. Then, theoretical assumptions regarding Montessori development aids and the possibility of using them in developing auditory skills are presented.

Speech Delay and Excessive Gadget Usage: Understanding Pathophysiology Mechanism and Prevention Target Among Children Population

In this state of modern era, usage of electronic gadget has increased excessively with the last ten years. Usage of devices has increased especially among children and adolescent population as a form for information display, education, and entertainment. Problems that arise of electronic gadget usage among children and adolescent population is excessive usage, which defined as usage of gadget over two hours per day. The huge pitfall of this phenomenon is the increasing incident of developmental delay within children population, specifically speech delay. Speech delay development found to be high prevalent in children under five years old, and there are several studies that have discussed correlation between speech delay and excessive usage of gadget. These studies have found that speech delay that led by excessive usage of gadget could occur due to understimulation of certain brain regions that involved in words sensory and recognition, and speech motoric ability, especially during neurodevelopmental period. Understanding of pathophysiology mechanism between speech delay and excessive gadget usage is important for every healthcare provider to educate family and creating preventive strategies from individual, family, and community aspect.

English Vowel Perception in Spanish-English Bilingual Preschoolers: Multiple-Talker Input Is Only Beneficial for Children With High Language Exposure Levels.

This study examines English vowel perception in Spanish-English bilingual preschoolers, comparing bilinguals' perception patterns to those of monolinguals and examining how child internal (age) and external variables (input quantity and input diversity) predict perceptual performance. Sixty children between 3;6 and 5;6 (years;months) of age participated in the study, 28 of whom were Spanish-English bilinguals and 32 English monolinguals. Perception was assessed through a forced-choice minimal-pair identification task in which children heard synthesized audio stimuli (i.e., "sheep" and "ship") that varied systematically along the /i-ɪ/ continuum and were asked to match them with one of two pictures. The data were analyzed with Bayesian mixed-effects logistic regression analyses, modeling responses as a function of continuum step, language background (monolingual or bilingual), age, English exposure (i.e., input quantity), and number of English input providers (i.e., input diversity). The results indicate that, despite displaying nonnative English stop voicing perception in a previous study, the same bilingual children showed English /i-ɪ/ perception patterns that did not differ from those of monolinguals. While age did not predict vowel perception, input quantity and diversity jointly interacted to moderate how well children perceived the /i-ɪ/ contrast. Specifically, diverse input promoted perceptual performance in children who received high levels of English exposure-and who presumably had more advanced English language skills, whereas it limited perceptual performance in children with more limited English exposure and skills. This study shows that bilingual children can show monolingual-like perception patterns for some sounds while displaying nontarget perception for others. This is the first study to demonstrate that language exposure mediates the role of input diversity on speech sound development, suggesting that varied input can be more or less beneficial for speech sound development based on the learner's language learning stage.

Bullying Involvement and Subtypes of Disabilities: Who is Likely to be Affected by What?

The current study uses latent class analysis (LCA) and binary logistic regression analysis to explore profiles of bullying and how they might be associated with the types of disabilities. LCA was used to determine a categorization of involvement in bullying among youth with various types of disabilities. Binary logistic regression analysis was conducted to explore how profiles of bullying involvement might be associated with types of disabilities. The study uses the 2016 National Survey of Children's Health, a large-scale survey completed on children's health, ages 0-17, in the United States. A total of 139,923 households were screened for eligibility. The study participants consisted of 50,212 caregivers of a child who completed the survey. Findings revealed that among caregivers of children without disabilities, 79.5% reported that their child was uninvolved, and 20.5% reported that their child was a victim of bullying. Children in the developmental disabilities, speech and/or language disorders, and learning disabilities groups, showed significant odds of being in the bullying victim group compared to those without any disabilities. The study did not find that children in any disability groups were likely to be in the perpetrator group.

Features of the development of oral speech in young schoolchildren

Features of the development of oral speech in young schoolchildren

Mucopolysaccharidosis Type I (Hurler – Scheie Syndrome): Case Report

Background. Mucopolysaccharidosis type I (MPS I) is an inherited disease caused by pathogenic variants in the IDUA gene, which encodes the lysosomal enzyme alpha-L-iduronidase. This clinical case demonstrates the importance of diagnosing rare diseases when patients have phenotypic features indicating hereditary pathology presence. Phenotype changes can be so-called “red flag” that helps specialists suspect and diagnose lysosomal storage diseases. Clinical case description. The patient was observed with delayed psychomotor development; she also had hepatomegaly and on auscultation of the heart there was a functional systolic murmur above the apex and in the Botkin–Erb point on heart auscultation. Coarse “garholoid” facial features attracted attention at external examination: large nose, wide sunken nose bridge, macroglossia, thick lips, synophrysis, scaphocephaly, wide chest, and flat-valgus feet. Echocardiography has revealed mitral valve insufficiency and hardened valve leaflets. Ophthalmologist examination: hypermetropic astigmatism. Psychiatrist examination: mental and speech development delay. Enzymatic diagnostics: significant decrease in alpha-Liduronidase activity. No further examinations were carried out due to the onset of the COVID-19 epidemic and parents' doubts about the diagnosis. The patient was readmitted to the hospital at the age of 6 years due to aggravation of her condition. A molecular genetic study has revealed two pathogenic variants in the IDUA gene. Diagnosis of MPS I was established according to the clinical data, results of biochemical and molecular genetic studies. Conclusion. This clinical case demonstrates the classic course of MPS I with typical phenotypic signs and lesions in various organs and systems. The presented case demonstrates the importance of professional vigilance among doctors of various specialties regarding orphan diseases.

Teaching issues related to speech development

Teaching issues related to speech development