Articulatory Speech Disorders Research Articles

Complaints, Diagnosis, Follow-up and Treatment of Patients Applying to 0-6 Years Old Child Psychiatry and Developmental Pediatrics Outpatient Clinic

Aim: By studying children aged 0-6 with outpatient and health board admissions, we aimed to contribute valuable insights to the literature on early childhood support, focusing on admission complaints, diagnosis distribution, treatments, and patient follow-ups. Materials and Methods: Between 01.08.2022 and 01.02.2022, patients aged 0-6 from Diyarbakir Gazi Yaşargil Hospital's Pediatric and Adolescent Mental Health and Developmental Pediatrics clinic, including those seeking health board evaluations, were studied. This prospective analysis examined patient demographics, complaints, diagnoses, health board interactions, treatments, and additional medical conditions. Patient follow-up data were scanned from the system for analysis before concluding the retrospective study. Results: Of the 600 patients included in the study, 337 patients came to the health board outpatient clinic, 160 to the child psychiatry outpatient clinic and 103 to the developmental pediatrics outpatient clinic. 220 (36.7%) were female and 380 (63.3%) were male. The most common presenting complaints of the patients were speech delay, mobility, report renewal and irritability. In our study, the presenting diagnoses were global developmental delay, isolated speech delay, ASD, ADHD, articulation disorder, behavioral problems, stuttering and specific learning disorder (SLD) with decreasing frequency. It was observed that 77.5% of the patients had no follow-up and the highest rates of follow-up were ADHD (67.4%) and ASD (56.9%). It was observed that 87.5% of the patients with a health board application had no follow-up. Conclusion: Determining the diagnosis, follow-up and treatments of the patients may guide the areas in which child psychiatrists and developmental pediatricians should work more intensively in the future. Early diagnosis, screening initiatives, awareness campaigns, and training for parents, teachers, and health professionals, along with telehealth, multidisciplinary strategies, and school collaborations, enhance health board applications and patient follow-up.

A different perspective into clinical symptoms in CPT I deficiency

Carnitine palmitoyltransferase I (CPT I) deficiency is an autosomal recessive disorder causing long-chain fatty acid oxidation defect, characterized by metabolic decompensation episodes accompanied by hypoketotic hypoglycemia, hepatomegaly, seizures, renal tubular acidosis, and hyperammonemia. The aim of this study was to investigate the neurological symptoms in CPT I deficiency and different outcomes with respect to predisposing factors for sequela and to draw attention to the neurological impairment that may develop during the course of the disease. The retrospective study reviewed clinical characteristics of 14 patients. Mean follow-up period was 10.3 ± 4.7 (range: 8 months-18.6 years; median: 10 years) years. Three patients were diagnosed with newborn screening. In the symptomatic group (n = 12) most common presenting symptoms were psychomotor retardation (n = 6), seizures (n = 5), encephalopathy (n = 5), dystonia (n = 1), Reye-like syndrome (n = 5), muscle weakness (n = 3), and autism (n = 1). Neurologic findings detected in the follow-up period included speech disorder (n = 9), abnormal cranial MRI findings (n = 5), neuropathy (n = 1), and attention deficit hyperactivity disorder (n = 1). Speech disorders collectively included delayed expressive language development, speech articulation disorder, speech delay, stuttering, and specific speech difficulties. After starting treatment for CPT I deficiency, speech disorders improved in 3 patients. Our findings confirmed that the clinical manifestations of CPT I deficiency is wider than previously thought, causing specific neurologic dysfunction, mainly speech disorders at a large scale, that were unexpected in a fatty acid oxidation disorder. We suggest that early diagnosis and treatment is the key factor to prevent neurologic sequelae while an extensive neurological evaluation is essential in patients with CPT I deficiency both at the time of diagnosis and during the follow-up period.

Logopedische diagnostiek en behandeling bij kinderen geboren met een lip-, kaak- en verhemeltespleet: een state-of-the-art overzicht

Speech diagnosis and treatment of children born with a cleft lip and palate: state-of-the-art overview Children born with a cleft palate, with or without a cleft lip, are susceptible to speech and/or language disorders. Velopharyngeal insufficiency often persists, even after successful surgical closure of the palate. This results in speech disorders, including both resonance and articulation disorders, which may have a severe impact on the children’s speech understandability and acceptability. This may, in turn, influence their psychosocial well-being, quality of life and inclusion into society. This article provides an overview of the most important speech characteristics per age group. In addition, a state-of-the-art overview of current practices in speech diagnosis and intervention is included. This overview is based on international scientific research in this population.

Reeducarea tulburărilor specifice de articulare a vorbirii determinate de dezechilibru muscular orofacial cu ajutorul terapiei logopedice miofuncționale

Phonetic disorders are errors of articulation and resonance of phonemes, which, in the presence or absence of organic changes in the phonoarticulatory organs, persist beyond the acquisition of perceptual and articulatory skills. For the correct production of each vowel/consonant, the structures of the articulatory apparatus come into contact in a variable way, following finely coordinated movements, and adopt a certain position to allow the correct emission of the sound. Orofacial muscle imbalances and disorders are disorders of the muscles and functions of the face and mouth. These can directly and/or indirectly affect breastfeeding, growth and development of the facial skeleton, mastication, swallowing, resting position of the tongue, speech- phonemic articulation, occlusion, temporomandibular joint (TMJ) movements, oral hygiene, stability of orthodontic treatment, facial aesthetics and others. The correct swallowing mechanism depends on the correct relationship between the muscles of the face, mouth and pharyngo-laryngeal region, but also on a balance of the entire body system. Another important element that must be taken into account, in particular, is the resting position of the tongue. Dysfunctional swallowing - refers to a condition in which there is an alteration of the mouth-lingual movements in the act of swallowing. Balancing the oro-facial musculature through education - re-education of deviant swallowing, breathing and mastication difficulties, phonatory verbal articulation alterations, malocclusion and painful symptoms of the temporomandibular joint, in different age groups is done through TMF (Myofunctional Therapy). Myofunctional therapy can lead to stable correction of swallowing abnormalities, with positive effects for correcting speech articulation disorders.

Long-Term neurodevelopmental outcome after antenatal corticosteroid in late-preterm twin neonates: nationwide study

In singleton women who are at risk of late preterm delivery, consideration of antenatal corticosteroid is advocated by clinical guidelines to reduce respiratory complications. However, adoption of this practice has not been universal in twin pregnancies at risk for late preterm birth, because of lack of evidences regarding both effectiveness and long-term safety of corticosteroid in this population. In the current study, we evaluated the long-term neurodevelopmental outcome of late-preterm twin neonates after administration of antenatal corticosteroid. This nationwide population-based study included twin neonates who were delivered in late preterm (34∼36+6 weeks) between 2007 and 2010 and were checked for National Health Screening Program for Infants and Children. Group 1 included neonates from mothers who were injected antenatal corticosteroid and group 2 included neonates without antenatal corticosteroid injection. The risk of long-term neurodevelopmental outcome was compared between the two groups of cases. Adverse long-term neurodevelopmental outcome was defined as occurrence of at least one of the followings: autism, cerebral palsy, speech articulation disorder, developmental disorders of scholastic skills, developmental disorder of motor function, and developmental disorder. During the study period, a total of 10,078 neonates were delivered in late preterm and met the inclusion criteria: 2196 neonates in group 1 and 7882 neonates in group 2. In terms of long-term neurodevelopmental outcome, there were no statistically significant difference between the two groups (Figure). The risk of adverse long-term neurodevelopmental outcome was not increased after administration of antenatal corticosteroid at late preterm twin neonates.

Genetic background of dyslexia and dysgraphy in children

The review is devoted to one of the current problems of pediatric neurology - reading and writing disorders in children as part of a partial developmental disorder. With the development of neuroscience, the paradigm of «brain damage» in the understanding of a number of pathological conditions was replaced by the concept of «evolutionary neurology». The dominance of the ontogenetic approach caused the appearance of a new section in ICD-11 - «Neurodevelopmental disorders». Twenty-one genes associated with the acquisition of reading and writing skills have been identified. Modern studies demonstrate the connection of neuropsychological prerequisites for reading and writing, and clinical phenotypes of dyslexia with changes in specific loci. It is assumed that there are different molecular genetic bases for dyslexia and dysgraphia depending on ethnicity, orthographic features of language, including logographic features. Pleiotropy of genes is a cause of comorbidity of reading and writing disorders with attention deficit and hyperactivity disorder, specific speech articulation disorders, and dyscalculia. A key function of many of the identified genes is their involvement in the processes of neurogenesis. Their dysfunctions cause atypical neuronal migration, ectopic formation, inadequate axonal growth, and dendrite branching at the early stage of brain development. Morphological changes can distort the correct distribution and/or integration of linguistic stimuli in critical brain areas, leading to abnormalities in phonology, semantics, spelling, and general reading comprehension. The knowledge gained can form the basis for the development of risk models for dysgraphia and dyslexia formation and be used as a diagnostic and/or screening tool, which is important for evidence-based correction, optimization of academic performance, and mitigation of psychosocial consequences.

The Use of the ICF Classification Sheet to Assess Cognitive-Behavioral Disorders and Verbal Communication in Patients after Ischemic and Hemorrhagic Stroke during Rehabilitation.

Background: In patients after experiencing stroke, the cognitive-behavioral deficits and disorders of verbal communication limit the effectiveness of rehabilitation. The key is to diagnose them at an early stage of rehabilitation and to implement appropriate psychological and speech therapy. Objective: Identify differences in the frequency and effectiveness of cognitive-behavioral disorder therapy depending on the clinical type of stroke, assessed before and after rehabilitation treatment, and their presentation using the ICF (International Classification of Functioning, Disability, and Health) classification. Materials and Methods: The study was prospective and included the analysis of cognitive-behavioral and verbal communication disorders. The study consisted of 47 patients after intracerebral hemorrhage (ICH) and 47 patients after an ischemic stroke (IS) before the implementation of rehabilitation and after completing a 4-week rehabilitation. Results: In the group after ICH, psychological therapy significantly reduced the disturbances of consciousness and orientation (p < 0.001) and improved the speed of performing tasks in tests (p < 0.001). In patients after IS and ICH, memory and attention function improved significantly (p < 0.001). Moreover, in patients after ICH, language function deficits decreased significantly (p = 0.018). Mood disturbances were maintained in 17% of patients after ICH and 40% of patients after IS (p = 0.007). Speech therapy reduced speech articulation disorders and aphasia in 85% of patients after ICH (p = 0.001) and in 68% of patients after IS (p = 0.033). Conclusions: The frequency and type of cognitive-behavioral and verbal communication disorders vary depending on the history of ICH or IS. The ICF classification may be useful in assessing and analyzing cognitive-behavioral and verbal communication disorders, which may lead to the implementation of appropriate psychological and speech therapy at an early stage of rehabilitation and increase the effectiveness of the therapy.

Articulation Battery Test For Tamil Speech Disorder Signals

Articulation disorder is referred as difficulty occurs in the pronunciation of specific speech sounds. An irregular coordination of the movement of tongue, lips, palate, jaw, respiratory system, vocal tract, height of the larynx, air flow through nasal leads to the incorrect production of speech sounds. The objective of this paper is to propose a computational model based on Recurrent Neural Network (RNN) algorithm to categorize the phonological patterns of Tamil speech articulation disorder signals into four predefined groups, namely, substitution, omission, distortion and addition. The methodology of the proposed work is described as follows. (1) List of articulation disorder test words suggested by Speech Language Pathologists (SLPs) is selected for this experimental study. (2) Real time speech signals that comprise of Tamil vowels (Uyir eluthukkal) and consonants (Meiyeluthukkal) are collected from people with articulation disorder. (3) Acoustic noise and weak signals are eliminated by applying Low pass filter to acquire the filtered speech signal. (4) Mel-Frequency Cepstral Coefficients (MFCCs) technique is implemented to extract the prominent features from denoised signals. (5) Principal Component Analysis (PCA) method is employed to choose fine-tune feature subset. (6) The refined features are employed to calibrate RNN model for classification. Results show that RNN model achieves 90.25% classification accuracy when compared to other artificial neural network algorithms.

الثقـــة بالنفـــس لـدى طــالبــات الجـامعــة ذوات اضطــرابـــات النطـــق والــکلام Self confidence among university students with speech and speech articulation disorders

هدفت الدراسة لمعرفة الثقة بالنفس لدى بعض الطالبات الجامعيات ذوات اضطرابات النطق والکلام، ويتضمن ذلک فحص العوامل الکامنة وراء تدنى مستوى الثقة بالنفس لديهم والتي تؤدى إلي إيجاد حلول ممکنة لمعالجة الظواهر النفسية المرتبطة بانخفاض کل من مستوى اللغة المنطوقة والثقة بالنفس نتيجة لوجود اضطرابات في النطق والکلام مما يزيد من فعالية هذه الفئة علي التواصل اجتماعيا وتحصيليا ويسهم بتقديم الدعم النفسي للجهود الرامية إلى علاج وتأهيل هذه الفئة، وسوف يستخدم في الدراسة المنهج الوصفي، وتتکون العينة النهائية للدراسة من (20) طالبة تتراوح أعمارهن من (19 – 22) عاما موزعات وفق ما يلي (10) طالبات يعانون من اضطرابات في النطق والکلام بناء على تشخيصهم طبيا، (10) من الطالبات العاديات طبق عليهم جميعا مقياس ستانفورد - بينية (الصورة الخامسة)، ومقياس جودة النطق والکلام (إعداد الباحثة)، واختبار نمو وظائف اللغة إعداد الرفاعي (2009)، ومقياس الثقة بالنفس (إعداد الباحثة)، وأسفرت النتائج عن تنمية اللغة المنطوقة والثقة بالنفس لدى طالبات الجامعة المضطربات في النطق والکلام من خلال عدة عوامل تتمثل في (التواصل اللغوي، التواصل الاجتماعي، الثقة بالنفس، القدرة على حل المشکلات، الشعور بالرضا النفسي)، ووجود فروق ذات دلالة إحصائية بين الطالبات المضطربات والعاديات في اتجاه العاديات، ويمکن التنبؤ بمستوى الثقة بالنفس لدى مضطربات النطق والکلام من خلال درجة اضطراب النطق The aim of the study was to find the self-confidence of some university students with speech and language disorders. This includes examining the factors behind their low level of self-confidence which lead to finding possible solutions to the psychological phenomena associated with low level of spoken language and self-confidence due to speech and language disorders. The effectiveness of this group on social communication and achievement and contribute to provide psychological support for efforts to treat and qualify this category, will use the study will use descriptive method, and the final sample of the study consists of (20) students aged 19-22 years (10) students suffering from disorders of speech and language based on their medical diagnosis, (10) of the normal students will be applied to them all Stanford - Intermediate (the Fifth picture), and the quality of speech and language (researcher preparation), and test the growth of jobs The results have proven the development of spoken language and self-confidence among university students who are troubled by speech and language through several factors (linguistic communication, social communication, self-confidence, ability to solve problems, Feeling of psychological satisfaction), and there are significant differences counted Vision among students with impairments and regular students in the direction of regular students, and predictable level of self-confidence in the students speech and language impairments through the degree of disorder pronunciation.

Premature loss of primary anterior teeth and its consequences to primary dental arch and speech pattern: A systematic review and meta-analysis.

Information about the functional and morphological consequences that occur following the premature loss of anterior teeth is still insufficient. To evaluate the consequences in children's speech and arch integrity following premature loss of primary anterior teeth compared to those without premature losses. Electronic searches were performed based on the PECO criteria. Observational studies in children (P) who suffered premature loss or extraction of primary anterior teeth (E) compared to children presenting normal occlusion development (C) and the consequences to speech and dental arch perimeter (O) were included. Risk of bias and data extraction were performed. The meta-analysis evaluated the influence of premature loss of primary anterior teeth in articulatory speech disorders (distortion, omission, and substitution) and space loss in the dental arches. Random- and fixed-effect models were used, and heterogeneity was tested. The certainty of evidence was estimated using the GRADE approach. From a total of 2.234 studies, six studies were included in the qualitative synthesis, and four in speech disorders meta-analysis. Despite it was not possible to perform space loss meta-analysis due to the absence of available data, qualitative analysis showed that there was no space loss after premature loss of mandibular primary incisors; a space loss, however, could be observed in children who lost primary canines at an early stage of dental development. For speech disorders results, children who lost anterior tooth presented higher chance of suffering speech distortion, than children without tooth loss (OR 5.466 [1.689, 17.692] P=.005) with low certainty of evidence. On the other hand, there were no statistically differences between premature loss of primary anterior teeth and omission (OR (a) 1.157 [0.439, 3.049] P=.767 and (OR (b) 1.393 [0.434, 4.70] P=.577) or substitution (OR (a) 1.071 [0.581, 1.974] P=.827 and OR (b) 1.218 [0.686, 2.163] P=.5), both with very low certainty of evidence. Premature loss of primary anterior teeth may affect children phonation causing speech distortion. Consequences of space loss to primary dental arch still need to be further studied. Despite the speech distortion results, included articles present low-level evidence-based quality, thus new studies should be performed.

Clinical and biological characterization of konzo forms in children in Kahemba/Democratic Republic of Congo

Background Clinical and biological characteristics of three forms of konzo severity are still poorly documented. Objective Identify clinical as well biological and evolutive characteristics of three clinical patterns of konzo and associated disorders of other organs. Methods A literature review was undertaken in PubMed, Global Science.Org and Google scholar. In addition, data from 213 children including 124 cases and 89 controls from the NIH-DRC konzo project were used in the retrospective study. Sociodemographic factors, somatic, neurological and neuropsychological assessment data as well as biomarkers of malnutrition and cyanide intoxication were the variables of interest. Results The age of the children was higher in the severe form and lower in the mild form. Konzo disease severity was related to socio-economic distress, malnutrition and micronutrient deficiency (selenium, zinc and copper). Patellar and ankle exaggerated reflexes were more common in mild form thus ankle clonus, speech articulation disorders and Lhermitte sign were more frequent in moderate form. Socio-emotional, visual disorders and ankylosis had high frequency in severe form. Moderate form had shorter enzymatic detoxification rate thus higher urinary thiocyanate levels as well as some neurocognitive performances. Heart rate increased significantly with Konzo severity regardless of age. Frequently, severe form evolved towards mild form and vice versa. Conclusion Characteristics of three konzo clinical patterns within children suggest different models of adaptation to cyanide intoxication that require in-depth studies.

Investigation of postoperative hypernasality after superiorly based posterior pharyngeal flap

BackgroundVelopharyngeal insufficiency that accompanies speech resonance and articulation disorders can be managed through several intervention methods such as speech-language therapy, prosthetic aids, and surgery. However, for patients with severe hypernasality, surgical interventions are highly recommended. Among available surgical techniques, the posterior pharyngeal flap is most common.Case presentationTwo adult males with high nasalance scores underwent superiorly based posterior pharyngeal flap surgery, followed by speech testing by an expert speech-language therapist. Nasalance scores and articulation accuracy were assessed up until 1 year after the surgery. Nasalance scores were measured five times using a nasometer, after which the average value was calculated.ConclusionsConsistent declines in hypernasality over time are not easy to explain since the pedicled pharyngeal flap narrowed over time, secondary to cicatrization. However, scar tethering of the soft palate in a posterior direction could reduce the velopharyngeal port size over time. Therefore, long-term follow-up with intensive speech therapy is suggested for patients with severe hypernasality.

Surgical Treatment of Tethered Oral Tissues (TOTs): Effects on Speech Articulation Disorders in Children a Review

Surgical Treatment of Tethered Oral Tissues (TOTs): Effects on Speech Articulation Disorders in Children a Review

ASSESSMENT OF THE EFFECT OF PUSHBACK Z-PLASTY METHOD ON THE FUNCTION OF VELOPHARYNGEAL AND ARTICULATION IN POST-RECONSTRUCTION CLEFT PALATE PATIENTS IN HARAPAN KITA CHILDREN AND MATERNITY HOSPITAL JAKARTA

Cleft palate patients experience various problems, especially those affecting their speech intelligibility, such as speech articulation disorder. The aim of this research was to prove the effect of cleft palate reconstruction with modified pushback z–plasty technique at the nasal mucosa on velopharyngeal function and articulation function in speaking. A research has been conducted on post-reconstruction cleft palate patients by using modified pushback z-plasty technique at the nasal mucosa. The methods were examining velopharyngeal components with cephalometric radiograph, assessing airflow released from the nose when the patients pronounce vowel ‘a’ using nasal emission device and assessing speech articulation results through Sehati Program at Harapan Kita Children and Maternity Hospital, Jakarta. The research results showed that there was a statistically significant effect of cleft palate reconstruction with pushback z-plasty technique at the nasal mucosa on velopharyngeal function, and there was a statistically significant effect of cleft palate reconstruction with pushback z-plasty technique at the nasal mucosa on articulation function in speaking. In addition, there was also a statistically significant correlation between velopharyngeal function and speech articulation function of post-reconstruction cleft palate patients with pushback z-plasty technique at the nasal mucosa based on the cephalometric radiograph, but the result was not significant statistically based on nasal emission assessment.

SUPPORTING FAMILIES IN CORRECTING DYSLALIA IN CHILDREN

The text deals with issues related to the effective support of speech and language therapy for children with dyslalia. The effectiveness of speech and language stimulation is determined by a wide range of determinants. Individual predispositions, influences of educational environments, personality, professionalism, the scope of speech and language therapists’ knowledge and abilities as well as a variety of methods used by them play an essential role. Dyslalia, which is one of the most frequent speech disorders, has a negative and significant impact on children’s psychosocial functioning. Children’s attitudes toward peers with speech articulation disorders not only seem to affect intellectual, cognitive and motivational processes, including perception, attention, memory, thinking, but also transform social behaviours. Therefore, the profound significance of the family’s influence on the effectiveness of speech and language therapy for children with dyslalia has been emphasised. It is assumed that educational activities require planned, intentional and regular collaboration with various environments in order to achieve desired goals and shape comprehensive individual development.

Prevalence of hearing loss in children with 22q11.2 deletion syndrome

ObjectiveThe purpose of this study was to determine the prevalence and characterize the types of hearing loss in pediatric patients with 22q11.2 deletion syndrome (22q11DS). MethodsFifty-eight patients were identified via retrospective chart review performed of patients with 22q11DS between 1996 and 2014. Patient demographics, pertinent family history, associated comorbidities, and degree and type of hearing loss were gathered for each patient. A literature review of the National Library of Medicine's database with a focus on hearing loss and 22q11DS was performed. Results22 patients (38%) were found to have hearing impairment: 68% with conductive hearing loss, 14% with sensorineural hearing loss, and 18% with mixed hearing loss. Patients with hearing loss regardless of type had a higher prevalence of developmental delay (55%), cleft palate (23%), articulation disorders (77%), and a greater need for tympanostomy tubes (73%) compared to patients with normal hearing. Temporal bone computed tomography scans of 5 patients revealed a variety of abnormalities in the middle and/or inner ears. ConclusionHearing impairment occurs in up to 38% of 22q11DS patients of both conductive and sensorineural types, with the conductive type being the most common. These patients have a greater need for tympanostomy tubes and a higher prevalence of developmental delay and speech articulation disorders. Early hearing screening and treatment is warranted in this population.

Mobile learning as alternative to assistive technology devices for special needs students

Assistive Technology (AT) revolutionized the process of learning for special needs students during the past three decades. Thanks to this technology, accessibility and educational inclusion became attainable more than any time in the history of special education. Meanwhile, assistive technology devices remain unreachable for a large number of students with disabilities, especially in under-developed and developing countries like Morocco due to a number of factors, especially, availability and affordability. Mobile learning, using smartphones and tablets in particular, may provide alternative solutions as special education tools in such countries. Additionally, open source platforms, particularly Google play store with all the applications it accommodates for disabled people, may obviate the need for monofunctional, sometimes expensive, AT devices. The present paper sets out to investigate potentials of using smartphones and tablets as alternative learning tools for assistive technology devices within formal and informal learning environments. It compares seven free Google Play medical apps with seven assistive technology devices at the level of functionality and affordability. The apps are of relevance to cases of physical as well as mental disabilities, namely hearing impairment, visual impairment, autism and speech articulation disorders.

PP09.12 – 3028: Broad spectrum of c.2015 G&gt;A mutation in GAA gene manifesting as mild infantile variant of Pompe disease in Jordanian patients

Objective A wide spectrum of Pompe disease exists from the infantile form to a milder juvenile or adult form. The clinical heterogeneity primarily relates to the occurrence of different mutations that lead to a different rate of lysosomal glycogen accumulation and non genetic factors that are thought to modulate the disease phenotypes. Methods We describe two unrelated families from Jordan presenting with the infantile variant form of Pompe disease sharing the same homozygous mutation c.2015 G>A in exon 14. Previously this mutation was described in juvenile onset cases. Results The first family consisted of two female siblings (5.5 and 3.5 years of age) born to first degree cousins of Muslim descent. The elder one presented between 3–6 months of age with marked hypotonia, hypertrophic cardiomyopathy, proximal muscle weakness, motor delay and no DTR's. She was started on enzyme replacement therapy at 24 months of age, walked independently at 27 months. Currently she has a nasal speech, muscle weakness and mild cardiomyopathy. Her younger sister, presented at 3 months with mild hypotonia, motor delay and hepatomegaly. She started ERT at 6 months and currently her neurological examination is normal. The second patient is a 5-year-old boy who presented with hypertrophic cardiomyopathy, hypotonia and an enlarged tongue. His parents are first degree cousins. Two siblings died before the age of one month due to heart failure; He started ERT at 14 months of age, walked independently at 18 months and follow-up echocardiography studies improved markedly. Currently he has a nasal speech, articulation disorder and otherwise no muscle weakness. Conclusion Our cases confirm the phenotypic variability among patients, even carrying the same genotype. Two patients, for whom ERT was commenced later, suffer from nasal speech and severe articulation disorder in spite of improved cardiac and motor function.

The Usefulness of Picture Consonant Articulation Test Determining the Effectiveness of Frenotomy in Ankyloglossia Patients

Ankyloglossia, also known as tongue tie, is a disease characterized by abnormally short frenulum. It is a relatively common congenital disease with incidence ranging from 2.08% to 10.7% and a male to female ratio of 3:1. The diagnosis and treatment as well as the symptoms of ankylogossia remain controversial among researchers. However, it is well known that ankyloglossia causes movement disorder of the tongue, resulting in lactation failure, speech articulation disorders, dysphagia, oral motor disorders, and respiratory disorders. To correct ankyloglossia, tongue tie division, frenotomy is the mainstay surgery. However, there is no clear evidence on the effect of this surgical treatment. The main purpose of the operation is to correct speech articulation disorder. During childhood, language acquisition is not complete. Therefore, objective inspection of speech articulation is very difficult. Picture consonant articulation test (PCAT) (Kim and Shin 2004) is a test designed to assess the ability of a child to modulate consonant pronunciation while the child is naturally looking at a painting. The objectives of this study were to: 1) determine the extent of speech articulation disorder Head and Neck Korean J Otorhinolaryngol-Head Neck Surg 2015;58(10):694-8 / pISSN 2092-5859 / eISSN 2092-6529

Effectiveness of tongue-tie division for speech disorder in children.

The aim of this study was to determine the effectiveness of tongue-tie division (frenuloplasty/ frenulotomy) for speech articulation disorder in children with ankyloglossia (tongue-tie). Articulation test was done in five children (3-8 years old) with speech problems who underwent tongue-tie division. The test consisted of 50 pictures of common Japanese words with 2-3 syllables. The patients were interviewed by a speech therapist and asked to pronounce what the picture card showed. Misarticulations of substitution, omission, and distortion were assessed. The preoperative results were compared with postoperative examinations at 1 month, 3-4 months, and 1-2 years. Nineteen substitutions that were observed in four patients preoperatively decreased to 10 in three patients at 1 month, 7 in three patients at 3-4 months, and 1 in one patient at 1-2 years postoperatively. Five omissions that were observed in four patients preoperatively decreased to 3 in three patients at 1 month, 2 in two patients at 3-4 months, and 1 in one patient at 1-2 years postoperatively. Thirteen distortions that were observed in five patients preoperatively decreased to 8 in four patients at 3-4 months but increased to 11 in three patients at 1-2 years postoperatively. Substitution and omission improved relatively early after tongue-tie division and progressed to distortion, which is a less-impaired form of articulation disorder. Thus, distortion required more time for improvement and remained a defective speaking habit in some patients.