Delayed Speech Development Research Articles

Case report: a child with cystic fibrosis and phenylketonuria

Background. In the international clinical practice there have been occasional reports of phenylketonuria (PKU) and cystic fibrosis (CF) found simultaneously in the same patient. Both PKU and CF are the inherited disorders characterized by autosomal recessive type of inheritance. Currently the combination of two or more inherited disorders in one patient is considered to be a clinical rarity.Case description. This is a clinical case of two genetic disorders, CF and PKU, combined in a 5-year old patient who had been followed up since birth. Owing to implementation of neonatal screening for inherited and congenital diseases into clinical practice, during the first month of life the infant was diagnosed with CF (diagnostically significant elevation of immunoreactive trypsin [IRT] at the initial [163.2 ng/mL] and repeat testing on day 21 of life [138.7 ng/mL]) and PKU (phenylalanine [PA] level 15.9 mg/dL). Both disorders have been confirmed by genetic tests, i.e., homozygous DelF508 mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and P281L mutation in the phenylalanine hydroxylase (PAH) gene was also present in homozygous state. Child’s parents strictly adhered to dietary and treatment recommendations. By the age of 5 years the child developed symptoms of neurological disorder and disorder of the respiratory system, cognitive impairment and delay in speech development, subclinical epileptiform activity with high risk of epilepsy, and chronic inflammation of the respiratory tract.Conclusion. This case report demonstrates the important role of neonatal screening in early diagnosis and timely start of therapy, and underscores the importance of continuous medication in such genetic disorders as CF and PKU. On the whole, such approach brings about a relative preservation of functioning of the most affected organs and systems. By the age of 5 years the child does not form bronchiectases, shows no signs of chronic hypoxia, nutritional deficiency or pronounced neurologic deficit, and is at low risk for the development of autism spectrum disorder. At the same time, the larger scale and longer-term observations are required in order to make the unequivocal conclusions about the prognosis of these diseases under conditions of modern-day medical follow-up.

Case report: a child with cystic fibrosis and phenylketonuria

Background. In the international clinical practice there have been occasional reports of phenylketonuria (PKU) and cystic fibrosis (CF) found simultaneously in the same patient. Both PKU and CF are the inherited disorders characterized by autosomal recessive type of inheritance. Currently the combination of two or more inherited disorders in one patient is considered to be a clinical rarity.Case description. This is a clinical case of two genetic disorders, CF and PKU, combined in a 5-year old patient who had been followed up since birth. Owing to implementation of neonatal screening for inherited and congenital diseases into clinical practice, during the first month of life the infant was diagnosed with CF (diagnostically significant elevation of immunoreactive trypsin [IRT] at the initial [163.2 ng/mL] and repeat testing on day 21 of life [138.7 ng/mL]) and PKU (phenylalanine [PA] level 15.9 mg/dL). Both disorders have been confirmed by genetic tests, i.e., homozygous DelF508 mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and P281L mutation in the phenylalanine hydroxylase (PAH) gene was also present in homozygous state. Child’s parents strictly adhered to dietary and treatment recommendations. By the age of 5 years the child developed symptoms of neurological disorder and disorder of the respiratory system, cognitive impairment and delay in speech development, subclinical epileptiform activity with high risk of epilepsy, and chronic inflammation of the respiratory tract.Conclusion. This case report demonstrates the important role of neonatal screening in early diagnosis and timely start of therapy, and underscores the importance of continuous medication in such genetic disorders as CF and PKU. On the whole, such approach brings about a relative preservation of functioning of the most affected organs and systems. By the age of 5 years the child does not form bronchiectases, shows no signs of chronic hypoxia, nutritional deficiency or pronounced neurologic deficit, and is at low risk for the development of autism spectrum disorder. At the same time, the larger scale and longer-term observations are required in order to make the unequivocal conclusions about the prognosis of these diseases under conditions of modern-day medical follow-up.

Case report: a child with cystic fibrosis and phenylketonuria

Background. In the international clinical practice there have been occasional reports of phenylketonuria (PKU) and cystic fibrosis (CF) found simultaneously in the same patient. Both PKU and CF are the inherited disorders characterized by autosomal recessive type of inheritance. Currently the combination of two or more inherited disorders in one patient is considered to be a clinical rarity.Case description. This is a clinical case of two genetic disorders, CF and PKU, combined in a 5-year old patient who had been followed up since birth. Owing to implementation of neonatal screening for inherited and congenital diseases into clinical practice, during the first month of life the infant was diagnosed with CF (diagnostically significant elevation of immunoreactive trypsin [IRT] at the initial [163.2 ng/mL] and repeat testing on day 21 of life [138.7 ng/mL]) and PKU (phenylalanine [PA] level 15.9 mg/dL). Both disorders have been confirmed by genetic tests, i.e., homozygous DelF508 mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and P281L mutation in the phenylalanine hydroxylase (PAH) gene was also present in homozygous state. Child’s parents strictly adhered to dietary and treatment recommendations. By the age of 5 years the child developed symptoms of neurological disorder and disorder of the respiratory system, cognitive impairment and delay in speech development, subclinical epileptiform activity with high risk of epilepsy, and chronic inflammation of the respiratory tract.Conclusion. This case report demonstrates the important role of neonatal screening in early diagnosis and timely start of therapy, and underscores the importance of continuous medication in such genetic disorders as CF and PKU. On the whole, such approach brings about a relative preservation of functioning of the most affected organs and systems. By the age of 5 years the child does not form bronchiectases, shows no signs of chronic hypoxia, nutritional deficiency or pronounced neurologic deficit, and is at low risk for the development of autism spectrum disorder. At the same time, the larger scale and longer-term observations are required in order to make the unequivocal conclusions about the prognosis of these diseases under conditions of modern-day medical follow-up.

FISH Diagnostics of Chromosomal Translocation with the Technology of Synthesis of Locus-Specific DNA Probes Based on Long-Range PCR

Detection of translocations in subtelomeric regions of chromosomes is a serious diagnostic problem, because they are difficult to determine by conventional cytogenetics with G banding. The aim of this work was the development of the technology of DNA probe synthesis for unique sequences of subtelomeric chromosome regions based on long-range PCR using the clinical case of determining the parental origin of unbalanced translocation between chromosomes 5 and 8. The unbalanced translocation der(5)t(5;8)(р15.33;q24.22) in a proband with physical, motor, intellectual, and speech development delay and in his sibling with speech and intellectual development delay as well, which was previously identified by array comparative genomic hybridization (aCGH), was confirmed by FISH. A balanced translocation 46,XX,t(5;8)(p15.33;q24.22) was detected in the mother’s karyotype using the created locus-specific DNA probe. This chromosome aberration was not detected by G banding of metaphase chromosomes. The father’s karyotype was normal according to FISH results. The method presented here makes it possible to create locus-specific DNA probes in a molecular cytogenetic laboratory using long-range PCR for the rapid diagnosis of cryptic chromosomal rearrangements.

SAT-055 A De Novo 1p13.2 Deletion Related to Short Stature, Hypothyroidism and Mild Developmental Delay

Background: Chromosomal deletions may lead to variable phenotypic alterations, depending on which loci and genes are deleted. We present the case of a boy with a de novo 1p13.2 deletion which was diagnosed by array-CGH analysis. Clinical Case: A Greek boy, who was referred for evaluation of growth failure, was investigated. He was delivered at term by cesarean section, with normal birth weight (3.060 kg), birth length (51 cm) and head circumference (35.5 cm). There was no positive family history for short stature. Target height was on the 25th percentile. He presented with growth deceleration since the age of 12 months leading to stature lower than the 3rd percentile at the age of two years, while his weight was at the 3rd percentile. Macrocephaly was appreciated (53 cm, >95th percentile). Dysmorphic facial features resembling Noonan syndrome, such as frontal bossing, depressed nasal bridge and low-set ears were recognized. His motor development was normal. Laboratory examination revealed hypothyroidism and treatment with L-thyroxine was initiated. He had regular follow-ups at 6 months intervals. A mild delay in speech development and motor skills was appreciated. At the age of five years old, as his growth rate remained slow, growth hormone (GH) stimulation tests were performed. GH had a borderline normal peak of 9.9 ng/ml. IGF-1 levels were also within normal range (123.7 ng/ml). Magnetic Resonance Imaging (MRI) of the pituitary gland and the brain was normal. Array-CGH analysis detected a loss of approximately 800 Kb on chromosome 1p13.2; these alterations affect 8 genes in the OMIM database. The deleted segment was mapped at chr1: 115,186,092_115,977,647 region. The genomic coordinates are listed according to genomic build GRCh37/hg19. The genetic material analysis did not show the presence of a deficit in chromosomal region 1p13.2 (chr1: 115,186,092_115,977,647) in neither of the parents, indicating that this finding was created de novo. Conclusion: We describe a patient with a Noonan like phenotype, due to a 1p13.2 deletion. In the international literature and databases of Database of Genomic Variants and Database of Chromosomal Imbalance and Phenotype in Humans Using Ensemble Resources there are no reports of normal individuals or patients with a similar finding in chromosomal region 1p13.2. Regular follow up of the patient is needed in order to better understand the evolution of the phenotype.

Speech and language development of children born following assisted reproductive technologies

ObjectivesStudies which targeted communication skills of children born following assisted reproductive technologies have reported contradictory results. Concerning the increasing rates of children born in these technologies and the importance of some factors as risk factors like birth weight, gestational age, and the number of children per birth in these procedures, studying speech and language skills is critical. So, the current study aimed to investigate the speech and language capabilities of Persian speaking children born following these procedures. MethodsA descriptive and cross-sectional study was carried out in Babol city in 2016–2017 to investigate the receptive and expressive language and speech of Persian speaking children born in assisted reproductive technologies in the age range of 6–72 months. Parents of 78 children completed the Newsha Developmental Scale to assess language and speech skills. Then, the language and speech performance of the participants were compared in terms of gestational age, birth weight, number of children per birth, and sex in the current research and they are categorized as normal or having delay in language and speech development. ResultsThe participants had statistically significant difference for the receptive language in terms of gestational age (χ2 (1) = 5.76, p = 0.01) and birth weight (χ2 (1) = 8.22, p = 0.004) but in terms of the number of children per birth (χ2 (1) = 7.11, p = 0.009) and sex (χ2 (1) = 0.037, p = 0.84) did not have statistically significant difference. The children did not show significant difference for the expressive language in terms of gestational age (χ2 (1) = 1.09, p = 0.29), birth weight (χ2 (1) = 0.34, p = 0.55), the number of children per birth (χ2 (1) = 1.58, p = 0.2), and sex (χ2 (1) = 0.037, p = 0.84). The participants of the present study did not have statistically significant difference in speech in terms of gestational age (χ2 (1) = 2.82, p = 0.09), the number of children per birth (χ2 (1) = 3.57, p = 0.06), and sex (χ2 (1) = 0.06, p = 0.79). They had significant difference in speech only in terms of birth weight (χ2 (1) = 4.13, p = 0.04). ConclusionBased on the results of the administration of the Newsha Developmental Scale as a screening tool, it seems that some factors like sex and number of children per birth do not affect speech and language performance of children born following ART. Another factor including gestational age and birth weight had effects on some domains. It is essential to design longitudinal studies to follow the speech and language performance of this population.

Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder

Autism spectrum disorders (ASDs) are a group of complex disintegrative disorders of mental development, characterized by a lack of ability to social interaction, communication, stereotyped behavior, leading to social maladaptation. We present a rare clinical case of a delay in psychomotor and speech development, specific facial dysmorphia, impaired behavior, and a detected mutation in the ADNP gene. When conducting targeted exomic sequencing, we revealed a previously undescribed variant of the nucleotide sequence in the ADNP gene (p.Ala1017fs). Mutations in the ADNP gene in a heterozygous state were described for patients with Helsmoortel-van der Aa syndrome (OMIM: # 615873). Mutations in the ADNP gene are the genetic cause of ASD in 0.17% of cases. When interpreting the data of new generation sequencing (NGS) in patients with epileptic encephalopathy, ASD, and characteristic phenotype, it is advisable to take into account that the ADNP gene is one of the key genes responsible for embryonic neurodevelopment.

Pathogenic copy number variation and clinical phenotype in children with neurodevelopment disorders

Objective To analyze the microdeletion and microduplication characteristics of pathogenic copy number variations (pCNVs) and clinical phenotypes in children with neurodevelopmental disorders, and to clarify the genetic pathogenic cause of children with neurodevelopmental disorders. Methods Children who were identified as neurodevelopment disorders such as global developmental delay and mental disorder, by next generation sequencing-based whole genomic copy number variation testing from January 2017 to November 2019 at the First Affiliated Hospital of Anhui Medical University were enrolled, and the clinical phenotypes and pCNVs were reviewed analyzed. Results There were 36 pCNVs in total 31 children, consisting of 24 microdeletion segments (66.67%)and 12 microduplication segments (33.33%), with sizes ranging from 320.00 kb to 93.26 Mb (mean 11.33 Mb). pCNVs frequently occurred in chromosome 15 , chromosome 8 and chromosome X, there were 9 children with 9 pCNVs in chromosome 15(25.00%), 3 children with 5 pCNVs in chromosome 8(13.89%)and 3 children with 4 pCNVs in chromosome X(11.11%) .The mainly clinical manifestations were motor disorder (30 children, 96.77%), mental disorder (22 children, 70.97%), speech development delay(22 children, 70.97% )accompanied by the malformation(11 children, 35.48%), abnormal face(11 children, 35.48%) and epilepsy(8 children, 25.81%), multisystem abnormalities generally exist in one individual. Conclusion This study demonstrates the clinical utility of whole genome CNVs testing in the genetic diagnosis of children with neurodevelopment disorders.Genetic pathogenesis of children with neurodevelopmental disorders can be revealed by the analysis of pCNVs. Key words: Neurodevelopmental disorder; Pathogenic copy number variation; Child

Use of the method for the formation of the concepts of size and shape in preschool children for clinical research

The goal of the present study was to test the method of forming or actualizing preverbal concepts in the conditions of an independent search for a task solution in order to use the method in clinical practice. The conditions of the absence of researchers instructions allow: 1) to compare in ontogenetic and clinical aspects; 2) to develop the skills of an independent search for solutions in problem situations; 3) to improve the creative potential of a child; 4) to develop the ability to achieve a goal. The advantage of using the preverbal concepts of size and shape is that this method can be applied to children of primary preschool age and children with a delay in speech development. To test the method, 7 healthy children of the middle preschool age (4-5-year-old children) were selected. The first task was to form or actualize the concept of a bigger or smaller size in children during the simultaneous presentation of 4 flat or volume geometrical figures. The second task was to form or actualize the concept of a flat or volumetric object among simultaneously presented 4 figures of the same size (small, medium or big). To get reward children should have chosen the figure, which was different from the other 3 ones in a trial during the formation of both the concepts. In the both tasks, we calculated the quantity of trials, which were needed for the single attainment or excess of the 70% level of the correct task performance per each type of learning. The behavioral results showed that the learning speeds during the formation of the concepts of the bigger/smaller size and flat/volumetric shape did not significantly differ from each other. It could be suggested that those concepts were equally important for the 4-5-year-old children. The study showed that the concept formation model is a convenient psychological method for testing the level of the development of the higher cognitive functions in participants and its use is possible in clinical practice with the parallel recording of the brain activity (EEG, evoked potentials etc.) in children in the process of their performing cognitive tasks. The described model is promising for identifying intellectual developmental delays in preschool children and can be used to test children with various cognitive abnormalities.

Comparative research of imitational ability in atypical development in the preschool age

This article discusses deficit of the model of psychological (from standpoint of difficulties) translation of prospects of actions of another person to the prospect of own actions in the process of imitation. The goal of this research consists in the analysis of group distinctions and comparison of imitational abilities of the children with typical development and children with developmental delay, as well as determine the degree to which the changes in the level of psychological model and identification of direction of the views would related to changes in imitation. The survey 124 children of preschool age. Comparison was conducted on the development of psychological model and imitation in the three contrasting groups: children with typical development, children with developmental delay, and children with delay in speech development. The group differences of imitation in relation to the psychological model were detected. It is demonstrated that the problems associated with imitation cam manifest as the universal symptoms for explanation of deficit in the development of psychological model. Analysis of the obtained results allow concluding that for effective accomplishment of imitational patents, it is necessary to understand and distinguish the mental states of another person.

Osteopathic correction of somatic dysfunctions in preschool children with delayed speech development

Introduction.Speech disorders are currently observed in an average of 30 % of children of the fi rst grade of school. It means that objectively during the preschool period, one third of the entire population of children have speech function that does not reach the norm and requires additional correction by specialists. In recent years birth injury has been considered one of the possible reasons for the high frequency of speech disorders. As practice shows, the possibilities of drug therapy for children with speech disorders are very limited. That is why it is relevant to expand non-drug methods for the restoration of speech functions. The goal of research — to justify the use of osteopathic correction of somatic dysfunctions in order to improve sound pronunciation in preschool children.Materials and methods.In the period from 2012 to 2018, a prospective controlled randomized study was performed on the basis of Tyumen Institute of Manual Medicine. The work is based on the results of examination and treatment of 98 preschool children with delayed speech development. 18 people were excluded from the study in accordance with exclusion criteria. Depending on the treatment method used, all patients were divided by simple randomization using the envelope method into two comparable groups (main and control) of 40 people. Patients of both groups underwent a complete speech therapy correction and training course, which included individual lessons. Patients of the main group underwent the same speech therapy, as well as the osteopathic treatment in accordance with the developed algorithm. All patients underwent osteopathic examination and a combined assessment of the severity of speech disorders before and after the treatment.Results.The study showed that the presence of global, regional and local somatic dysfunctions was typical for children of preschool age with a delay in speech development. Somatic dysfunctions of head, neck and thoracic regions were most often observed. In the course of the treatment, patients of the main group showed a statistically significant decrease in the frequency of detection of somatic dysfunctions of head, neck, and thoracic regions, of local somatic dysfunctions of the cranial sutures and the thoracoabdominal diaphragm (p<0,05). In patients of the control group, there was no statistically significant decrease in the number of somatic dysfunctions. In children with impaired speech development who underwent complex therapy, which included osteopathic correction and individual lessons with a speech therapist, there was a significant decrease in the severity of speech disorders compared with patients of the control group (p<0,00001).Conclusion.Osteopathic correction of somatic dysfunctions (with a certain sequence of techniques aimed to treat connective tissue disorders, including decompression, elimination of edema and hypoxia in children with delayed speech development), allows to achieve a statistically signifi cant improvement in children′s condition compared with standard treatment.

Long-term functional outcomes of hearing and speech rehabilitation efficacy among paediatric cochlear implant recipients in Shandong, China

Purpose To evaluate the auditory performance and speech intelligibility of 100 children with bilateral profound sensorineural hearing loss up to 3 years after cochlear implantation. Methods A cohort study was established consisting of 100 children who received cochlear implantation at Shandong Ear Nose and Throat Hospital from 2012 to 2015. Children were examined after 1 month, 1, 2, and 3 years of implantation to assess auditory performance and speech intelligibility using standard tools. The paired Wilcoxon signed-rank test was used to assess whether the scores obtained at different testing points differed significantly. The Mann–Whitney test was utilized to examine the between-group differences (e.g., age at implantation). Results Three years after implantation, 60% out of 100 children reached the maximal category (7) of categorical auditory performance and 37% achieved the highest category (5) of speech intelligibility rating. Significant improvements were found over time in categorical auditory performance category and speech intelligibility rating (from month 1 to year 1, p < 0.001; from year 1 to year 2, p < 0.001; and from year 2 to year 3, p < 0.001). Larger improvements in auditory outcomes and speech intelligibility were observed in children with a younger age at implantation and those who received speech therapy. Conclusions Cochlear implantation appears to make a significant, positive contribution to the development of communication skills of young congenital and prelingually deaf children in China. These improvements continue for up to 3 years after implantation. Positive outcomes appear to be associated with earlier age at implantation and receipt of speech therapy. Implications for rehabilitation Bilateral sensorineural hearing loss. Bilateral sensorineural hearing loss in children can cause delay in speech development, poor language skills and potentially disorders in psychological behaviour and social isolation. Cochlear implantation (CI) is an effective strategy that helps children with bilateral sensorineural hearing loss gain the ability to hear and continue to develop language. This study shows that the auditory performance and speech intelligibility of deaf children who speak Mandarin continued to improve up to 3 years of implantation, when follow-up ceased.

Environmental factors and psychomotor development in children up to the age of 3

Abstract Introduction Chemical compounds and other pollutants found in the environment have a well-documented, adverse effect on the life and health of individuals. Those who are most vulnerable to toxic effects include prospective parents, pregnant women, foetuses, and young children. In Poland, both the prevention and early detection of developmental abnormalities is insufficient. The objective of the study was to analyse how the pre- and postnatal development of a child is affected by toxicants the mother has been exposed to. Materials and methods The study was conducted in the form of a diagnostic survey. The degree of toxic exposure was assessed based on Wawrzynów’s questionnaire, the Mothers’ Toxic Exposure Assessment Questionnaire’ (Kwestionariusz Oceny Narażenia Matek Dzieci na Toksyny – KONT-15). The evaluation of child development was based on the following psychometric tools: the Munich Functional Developmental Diagnostics (MFDD), the Speech (MM-speech) and Reflex (MM-reflexes) Development Questionnaire, IRMIK (Inwentarz Rozwoju Mowy i Komunikacji) – the Polish adaptation of the MacArthur-Bates Communication Development Inventories (CDI), and the Child Development (RD-18) questionnaire, also designed by Wawrzynów. Results The study included 102 mothers of children up to 3 years of age. Most of the surveyed mothers indicated large urban agglomerations with more than 100,000 inhabitants as their current place of residence. The study demonstrated that a substantial majority of the mothers had come into contact with toxicants. A statistically significant relationship was demonstrated between developmental delays in children and high exposure to toxins in mothers. There was no statistically significant relationship between maternal exposure to toxins and delays in the development of speech and reflexes. Conclusions Environmental pollutants found primarily in air, food, medication, and everyday items, exert a negative influence on childhood development. A high maternal exposure to toxins contributes to developmental delays in speech and reflexes in children. Delays in speech and communication development were observed more frequently in children who were older. Developmental delays in children were more common among younger children.

Psychomotor, speech and mental development in children with infantile cerebral paralysis

Purpose of the study . Optimization of the diagnostic algorithm of neuropsychic development in the context of primary pediatric and specialized neurological care on the basis of analysis of the formation of psychomotor, speech and mental abilities in children with infantile cerebral paralysis, formed on the background of hypoxic-ischemic and hypoxic-hemorrhagic perinatal CNS damage. Materials and methods . The article presents an assessment of psychomotor, speech and mental development of 81 children with infantile cerebral paralysis (ICP): 50 patients with hypoxic-ischemic central nervous system damage and 31 patients — with hypoxic-hemorrhagic central nervous system damage. Results . PSlowing of psychomotor development (SPD) was diagnosed in 98.8% of cases. The greatest percentage of children with SPD was noted in children under 1 year of age — 40%. The majority of children with SPD are noted under age 2. The amount of children with the delay in speech development (DSD) was 93.8%. DSD was absent in 5 (6.2%) patients. In children under 1.5 years of age, DSD was noted in 34.2% of all cases, while in the group with hypoxic-ischemic damage (HID) of the central nervous system — 47.9% and only 10.7% — in children with hypoxic-hemorrhagic damage (HHD) of the central nervous system(p < 0.01). At the age of 1.6 up to 2 years, the proportion of children with DSD from the group with HID of the central nervous system was 35.4%, and in the group with HHD of the central nervous system — 82.1% (p < 0.01). Mental retardation (MR) was noted in 28.4% of children. The severe and deep forms of MR were 2 times higher in groups with HHD of the central nervous system (22.2 and 11.1%, respectively). Other mental disorders, caused by brain dysfunction, were diagnosed in 50.6% of patients. The absence of MR and other mental disorders was noted in 21% of cases. Conclusion . Presumably, the cause of high detectability of SPD in children under 2 years of age is late evaluation of the child’s speech abilities by parents . The presence of MR in 1/3 of all children under study, and the presence of other mental disorders in 50.6% of patients, indicates a significant proportion of developmentally delayed children with infantile cerebral paralysis (ICP).

Neurodevelopmental Deficits in 16p11.2 Microdeletion Syndrome Would Risperidone Make A Difference? A 2- year- old male toddler Case Study

Deletion in chromosome 16 at location 11p.2 has been associated with multiple neurodevelopmental disorders including intellectual disability; autism spectrum disorder (ASD) and impaired social communication and interaction; behavioural dysfunctions including oppositional defiant disorder (ODD) and other disruptive behavioural disorders such as aggression, irritability, and noncompliance; and impaired/ delayed development of speech and language. To the best of our knowledge, there is no known pharmacological approach to address early stage of the neurobiological pathogenesis of this neurodevelopmental disorder. Methods: Two-year-old boy, with established diagnosis of 16p11.2 microdeletion syndrome, has been referred to Child and Adolescent Mental Health community service, the Northern of the Netherlands due to intolerable disruptive behaviour. Besides, this toddler demonstrated absence of expressive language, social impairment, headbanging and other motor stereotypies. Treatment with risperidone was started and the effect of treatment has been evaluated during a follow up period of 16 weeks using clinical interview with the parents, inspection of toddler’s behaviour and by using Child Aberrant Behaviour Checklist. Results: Clinically meaningful improvement has been observed in the 3 main affected neurodevelopmental domains, expressive language, behavioural disorder and social communication could be observed during the follow up period. Conclusion: Risperidone - induced improvement in the 16p11.2 microdeletion associated neurodevelopmental deficits calls for further investigations to explore the potential therapeutic role of antipsychotics in the early phases of this syndrome and other conditions sharing the same neurobiological pathogenesis including autism spectrum disorder.

Effectiveness of folklore as a means of early speech therapy

The article deals with the issue of mastering verbal and non-verbal means of communication by young children with delayed speech development. Modern ideas about the developing capabilities of folklore, its structural and speech features are analyzed. The results of diagnostics of the level of development of speech, expressive-mimic and subject-effective means of communication, sensorimotor and motivational-need levels of speech development of young children with speech development delay are presented.

Govorno-jezičke sposobnosti i pokretljivost govornih organa kod dece sa spastičnom cerebralnom paralizom - preliminarno ispitivanje

Introduction Although clinical practice shows that children with spastic cerebral palsy have disturbances in the development of speech and language, literature is very scarce with data in this area. In particular, it is missing data on the specificities of speech-language disorders and the mobility of speech organs. Objective the aim of this paper is to assess the development of speech and language abilities and to determine the characteristics of speech disorders in children with spastic cerebral palsy. We were also interested in the state of mobility of speech organs in this category of children. Method the sample consisted of 10 respondents (6 boys and 4 girls), aged four years, with spastic cerebral palsy who were treated at the Special hospital for cerebral palsy and developmental neurology in Belgrade. Based on the medical documentation and the results of testing, the course of language development, speech-language abnormalities and mobility of speech organs were analysed. The Test for the articulation assessment and the Test for voice assessment were applicable, while the prosodic features of speech were assessed by perceptual analysis of recorded speech patterns. The mobility of speech organs was assessed by clinical observation and by using a Test of voluntary oral motor activity. Results the results showed that children with spastic cerebral palsy have a significant delay in speech and language development. They master the elements of the linguistic structure much later than the typically developing children. Most children with spastic cerebral palsy have dysarthria characterized by difficulties in the articulation of the consonants, the change in voice quality, and disturbance of rhythm and rate of speech. Disturbances in speech are accompanied by slow movements of speech organs. Conclusion Children with spastic cerebral palsy are late in the development of speech-language abilities, they have a disorder of articulation of consonants, altered voice quality and impairment of the prosodic features of speech.

Imitation and Ability to Form Social Experience Based on a Mental Model in Preschoolers

The article features basic violations and absence of “mental model” as an ability to identify with another person’s actions in the process of imitation. 124 preschoolers were studied to compare the development of mental model and imitation. They were divided into three contrasting groups: normally developing children, children with special needs, and children with delayed speech development. The study revealed imitation differences in relation to the level of the mental model. The obtained data complement the understanding of the innate foundations of social cognition. Violations associated with imitation can explain the cognitive aspects of the mental development deficit in preschool children. They can be a universal symptom that disrupts early social interaction and ultimately leads to various social and communication deficits. For a productive implementation of simulation schemes, it is necessary to understand and recognize the mental states of the interlocutor and their organization into mental models (single, situational, or extra-narrative). Imitation arises when the children are able to integrate information about themselves and about others and can combine their own intentions and the intentions of others in relation to an external object (triadic relations).

Роль родителей в коррекции речевых нарушений у детей

An increase in the number of children with various speech development disorders requires more effective correction methods and determines the relevance of this paper. The article discusses speech disorders in children of preschool and primary school age and hereditary factors (particularly those affecting the delay of speech development, stuttering, and dysgraphia) based on the clinical and psychological-pedagogical classification. The authors highlight the adverse effects that social factors may have upon speech development and impediment and link the success of correctional and developmental efforts to the active and competent participation of the parents in this process. Traditionally, preschoolers’ parents are engaged in the process of correcting their child’s speech disorder. There is, however, a lack of parental involvement in the case of children with dysgraphia and dyslexia in primary schools. The system of family group logopsychotherapy developed by Yulia B. Nekrasova and Natalia L. Karpova (mixed-age groups for people with stuttering) is presented in the paper as an example of parents’ and other relatives’ active involvement in the correctional process. This system functions as a complex unity of psychology, pedagogy, speech therapy and non-medical psychotherapy. One specialist — a family logopsychotherapist, carries out the entire complex of social rehabilitation measures aimed to help an individual suffering from speech communication impairment. Studies of family logopsychotherapy groups presented in the article review attitudes to the defect based on the analysis of parent-child relationships; patterns in parent-child relationships, contributing to the emergence, consolidation and resilience of a speech defect; the role that a parent’s individual characteristics and speech patterns may play in the onset of stuttering. The results suggest the existence of specific psychological mechanisms for the emergence, consolidation and further development of a speech defect that transfer of pathological behavioural patterns from parents to children. The authors suggest adapting the family group logopsychotherapy system to preschool age in kindergarten and using mixed-age groups experience in classes with younger students who struggle with mastering written language at school. In such conditions all work should be based on the principles of the universal significance of social rehabilitation, a family-oriented approach to speech recovery in children, etc.; a single speech regime for the entire family should be established and a positive mentality should be induced and maintained by all family members.

S4A-18 SESSION 4A: GENERALITIES IN CRANIOSYNOSTOSIS – PART I SING AND SAY: AN INTERACTIVE WEB-BASED RESOURCE OF LANGUAGE STIMULATION RESOURCES FOR CHILDREN WITH CRANIOSYNOSTOSIS.

Introduction: The Four NHS-Designated Craniofacial Units in the UK regularly conduct assessments of children’s speech, language and feeding skills in accordance with an agreed national assessment protocol. During these assessments children with communication delay are identified and referred to local services for therapy. However, recent reports have identified that local Speech and Language Therapy services are fractured and variable, most recently described as a postcode lottery by ICAN (2018). A 2017 quality commission and Ofsted report also highlighted the difficulties that parents report in accessing SLT services. Methods: To support children (0 – 24 months of age) who are unable to access local speech and language therapy, the Oxford Craniofacial Unit Speech and Language Therapy team created an online suite of language stimulation resources called ‘Sing and Say’. Sing and Say features videos, animations, songs, information leaflets and an i-book. To measure the efficacy of the Sing and Say intervention, children’s language outcomes at their pre-operative and post-operative appointment are being compared. Here, we present data from the project pilot and the language results from the non-intervention group. Parent satisfaction was measured using an online questionnaire. Results: Results of the comprehensive baseline language assessment in the non-intervention group (n=58) indicate that 17% of children (n=10/58) presented with delayed early social skills; 22% presented with delayed speech development; 26% presented with delayed symbolic play development. Responses from the parent questionnaire indicated a 92.31% satisfaction rate (mean = 4.69, SD = 0.46) with the ease of use of the videos. Conclusion: Results of assessment reinforce the need for speech and language therapy intervention for children less than two years of age. Initial parental feedback indicated a high satisfaction rate with the Sing and Say resource. Data collection in the intervention group has now commenced.