Clinical phenotype and genetic characteristics of patients with typical 16p11.2 microdeletion syndrome / 中华神经科杂志

Objective:To analyze the clinical phenotype, copy number variation, treatment and follow-up characteristics of children with typical 16p11.2 deletion syndrome.Methods:The clinical data of 10 children with typical 16p11.2 deletion syndrome who were treated in the Department of Neurology, Children′s Hospital of Fudan University from August 2011 to December 2021 were retrospectively collected, and their clinical phenotype, copy number variation, treatment and follow-up were summarized.Results:Among the 10 children, 4 are female and 6 are male, all with epilepsy. Nine patients had epilepsy in infancy, and the age of onset was 6.0 (4.0, 8.5) months. Four cases had focal seizures (1 with fever), 4 had generalized tonic-clonic seizures, and 2 had focal seizures with generalized tonic-clonic seizures. Eight cases had cluster seizures (more than 2 to 10 seizures within 24 hours), and 1 case had 1 status epilepticus. Nine children did not show obvious developmental delay at the onset of epilepsy, and 1 child had developmental delay at the onset of epilepsy at 14 months of age. One child had parallel toes at left foot, and 1 had macrocephaly and low limb muscle tone. Genetic testing found that 10 children carried typical 16p11.2 heterozygous deletion, the starting position of the deletion fragment was Chr16:29478119-29675016, the ending position was Chr16:30125670-30206112, and the deletion length was 525-712 kb, all of which were considered pathogenic variants. In the antiepileptic drug treatment, 4 children were treated with oxcarbazepine, 2 with sodium valproate, 2 was switched to oxcarbazepine after levetiracetam was ineffective, 1 with levetiracetam combined with sodium valproate, and 1 with levetiracetam in combination with sodium valproate and ketogenic diet, and all 10 children had no seizures. One patient developed episodic exercise-induced dyskinesia at school age, and the seizures decreased after treatment with oxcarbazepine. Follow-up of 10 children found that 9 children had different degrees of developmental delay (language was significantly affected), 3 cases were combined with autism-like manifestations, and 1 case had poor comprehension, learning difficulties, and repeated grades after entering regular primary schools.Conclusion:The typical 16p11.2 microdeletion syndrome has the deletion of gene fragments in the proximal region of 16p11.2, characterized by drug-responsive cluster seizures with onset in infancy, which may be accompanied by language delay, autism spectrum disorder and nonspecific malformations.

Electroencephalographic abnormalities in preschool children with language delay

Background: Most children seem to be slow in the initial days of learning language but some children continue to have problems. Studies show that speech and language development affects 5–10% of preschool children. A high proportion of electroencephalogram (EEG) abnormalities and epileptic syndromes has been found in children with severe language impairments in western studies. Aims and Objectives: This study aims to look at the rate of occurrence of EEG abnormalities in preschool children with language disorders in the local population. Materials and Methods: Fifty two preschool children (<5 years) who present with complaints of language delay/regression to Department of Audiology and speech pathology and psychiatry were included in the study. Children with concomitant hearing impairment, orofacial anomalies, and medical illness were excluded from the study. Ethical clearance was taken from the Institutional Ethical committee. After the initial assessment, International Classification of Diseases 10 was used to diagnose language dysfunction with or without co morbid neurological or psychiatric manifestations. EEG was done on the sample and the reports analyzed. Chi-square test was used to examine statistical significance between the presence of EEG abnormalities and other categorical variables, while independent t-test was used to examine the statistical significance with that of continuous variables such as age. Associations and differences were said to be significant when P < 0.05. Results: The mean age of the sample was 49.85 months. There was a higher number of male 32 (61.5%) in comparison to females 20 (38.5%). 42 (80.8%) children of the sample had abnormal EEG discharges such as spikes, sharp and wave pattern, focal and generalized. There was higher prevalence of EEG abnormalities in girls compared to boys (P = 0.008). Children with epilepsy had higher EEG abnormalities which was statistically significant (P = 0.031). Conclusion: EEG is an useful tool in assessing children with language delay and may be a trial of antiepileptic medications can help these children.

Prospective cohort study and risk factor analysis of language delay based on outpatient in Xiamen / 中华实用儿科临床杂志

Objective:To analyze the social family factors influencing language delay in children with the age ranging from 18 to 42 months in Xiamen.Methods:A prospective cohort study was conducted to evaluate children with language delay (case group) and normal controls (control group) in Child Health Clinic and Developmental Behavior Clinic of the First Affiliated Hospital of Xiamen University between July 2017 and July 2019 via a self-made questionnaire and a language development scale, and the case-control ratio was 1∶4.The chi- square test, Logistic regression and generalized multifactor dimensionality reduction (GMDR) were adopted for statistical analysis, and the correction analysis was performed with Bonferroni correction. Results:A total of 126 children with language delay were collected in the case group, with the ratio of male to female being 2.05∶1.00. The control group was included 504 cases.There was no significant difference in gender and age between both groups.The chi- square test showed that there were statistical differences in maternal culture and screen time distribution between both groups ( P<0.05/13). Besides, the multivariate Logistic regression analysis suggested that significant risk factors for language delay in children included maternal culture, maternal-child interaction, and screen time.The GMDR analysis showed that screen time was the optimal single-mode for children at risk of language delay, while maternal culture and screen time constituted a statistically different two-factor model.Moreover, the marital-child interaction was included into the three-factor model. Conclusions:Screen time and maternal culture were the most important risk factors for language delay in children of Xiamen, and both factors would interact with maternal-child interaction, which could exert impacts on language delay in children.

A study of prevalence and factors associated with language delay among 0-3 year old children in a tertiary teaching hospital

Background: Speech and language are essential components of child development. Delay in language development leads to poor scholastic performance, learning disabilities and poor socialization. Language Evaluation Scale Trivandrum (LEST) is a screening tool for use in office and communities for identifying language delay.Methods: A descriptive study of cross-sectional design was done in 350 children between 0 and 36 months attending well baby clinic. A proforma with demographic details of parents, antenatal, perinatal risk factors were completed. All mothers were asked to complete home screening questionnaire to assess home environment. Language delay was identified using LEST scale. The association of language delay with antenatal, perinatal risk factors, socio economic status and home environment were analyzed.Results: The prevalence of language delay was 6%. No association was found between language delay and type of family, place of residence, antenatal complications, perinatal complications, gestational age, birth weight and socio-economic status. Negative home environment was significantly associated with language delay.Conclusions: The prevalence of language delay was 6%. Negative home environment significantly affects speech and language development

Paediatric Dentist: The Difference Maker for Children Suffering from Speech and Language Delay

Child's overall development and cognitive ability depend on the speech and language development. A speech and language delay is usually associated with increased difficulty with reading, writing, attention and socialisation. The knowledge of delay in the speech and language development may help in intervention and assistance to the child at a young age, when the chances of improving the developments are more acceptable. This includes a variety of tests for the child, which needs to be integrated with the routine clinical practice to improve and help the child to overcome the developmental delay of language and speech. The paediatric dentist can play a vital role in this development by his/her skill all of which is aimed to the well-being of the child. This review highlights on the treatment integrations of paediatric dentists, which can help the child suffering from speech and language delay.

Presenting symptoms of autism in Sri Lanka: analysis of a clinical cohort.

Introduction: Diagnosis of autism is based on the presence of social interactional and communication impairment and certain behavioural characteristics. Most documented accounts on symptom profiles in autism come from developed countries and studies on ethnically different populations are few, although this knowledge is crucial to screening and early recognition. Common presentation of autism in Sri Lanka has not been identified. Method: The data for this descriptive study was obtained from an existing computerised data-base of a clinical cohort of children diagnosed with autism. Diagnosis was made on prospective data gathered from: (i) parental report on development and behaviour and (ii) direct observational assessment of social interaction and communication, quality of play and abnormal patterns of behaviour. Final diagnosis of autism was made on fulfillment of DSM IV-TR diagnostic criteria. Results: Data on 244 children was analysed. Mean age was 35.8 months (SD 12.44, median 35.8, mode 30 months, range 13 to 96 months). Average age of diagnosis of the sample was 35.8 months. 48.2% presented at 25-36 months of age. The majority (77.4%) were male. Poor development of speech for age was the primary concern of parents in 82.3%. Hyperactivity, abnormal play behaviour, and social un-connectedness were reported as presenting problems only in 4.9%, 1.2% and 1.2% respectively. On assessment, the presence of a range of behavioural problems (14.6%), stereotyped behaviours (24.3%) and regression of speech (47.3%) was elicited. Co-occurring physical disorders were present in 18.8% with 10.6% having a seizure disorder. Atypical autism was diagnosed in 20.8%. There was no statistically significant association between age of presentation and type of presenting problem or associated disorders (p>0.05). Conclusions: Poor development of speech was the primary concern of parents to seek medical help irrespective of age. The rate of recognizing social impairment and other main characteristics of autism was low.

Implicaciones clínicas del diagnóstico diferencial temprano entre Retraso de Lenguaje (RL) y Trastorno Específico del Lenguaje (TEL) / Clinical Implications of early differential diagnostic between Language Delay (LD) and Specific Language Impairment (SLI)

El objetivo de este trabajo es analizar las diferencias que, desde un punto de vista clínico, tienen los conceptos de Retraso de Lenguaje (RL) y Trastorno Específico del Lenguaje (TEL). Para tal fin, se seleccionó una muestra de seis sujetos con RL y otros seis con TEL, a través del uso de instrumentos tanto estandarizados como en forma de tareas. Mientras que los niños con RL no recibieron tratamiento alguno, los TEL fueron sometidos a un programa de intervención que perseguía, por un lado, favorecer el desarrollo de la comprensión y la producción lingüística y, por otro, estimular el progreso de habilidades básicas para la iniciación a la lectura, especialmente el desarrollo narrativo y el procesamiento fonológico. Los contenidos del programa se han secuenciado en orden creciente de complejidad cognitiva. Con el fin de comprobar las semejanzas o diferencias de los sujetos en su desarrollo lingüístico, atendiendo a su grupo de pertenencia, se utilizó la U de MannWhitney. Los resultados obtenidos muestran diferencias estadísticamente significativas entre ambos grupos. Así, se destaca una evolución siempre favorable de los sujetos con RL, sin que sean sometidos a intervención alguna, todo lo contrario de lo que ocurre con los niños con TEL. En consecuencia, los datos apuntan a que no tiene por qué haber un recorrido desde el RL hasta el TEL, tratándose de categorías diagnósticas diferenciadas.

The aim of this paper is to analyze the differences between Language Delay (LD) and Specific Language Impairment (SLI) concepts from a clinical point of view. The selected sample consisted of 6 LD and 6 SLI individuals, who were chosen with standardized tools and qualitative tasks. LD children had not any treatment; meanwhile SLI children underwent an intervention program which pursued two aims: on one hand, to improve the development of linguistic comprehension and production and on the other hand, to encourage the progress of basic skills for literacy, focusing on narrative development and phonological processing. The contents of the program have been sequenced in increasing order of cognitive complexity. The U of Mann-Whitney was used to check the similarities and differences of the children' linguistic development according to their diagnosis. Results show important differences between both groups. A positive progress of LD children stand outs, although they didn't undergo an intervention program. Meanwhile, just the opposite happens with SLI children. These data make us think that there is not an obligatory sequence from LD to SLI children. Therefore, we regard them as different categories.

Vocabulario expresivo en una muestra de niños preescolares con trastornos psiquiátricos y un grupo con desarrollo típico / Expressive vocabulary in a sample of preschoolers with psychiatric disorders and a group of children with typical development

Introduction Expressive language problems are common amongst preschoolers both in the general population (15-20%) and in clinical settings (50-75%); furthermore, these problems are often not detected. Language problems require attention since they are associated with severe developmental disorders such as autism (Au), Asperger's syndrome (AS), attention-deficit hyperactivity disorder (ADHD) and mental retardation. In theory, language development, specifically expressive vocabulary, associated to psychiatric disorders could be identified with a scale that measures expressive language. Objectives 1. To determine the frequency of language delay in a sample of Mexican children with typical development in the community. 2. To determine the vocabulary level for autism, Asperger's syndrome, ADHD and other psychiatric disorders through the use of the Language Development Survey (LDS). 3. To analyze if differences in vocabulary ratings among the clinical subgroups can be detected with this instrument. Materials and methods The sample consisted of: A community group with typical development (TDG) (n=302) and a clinical group (CG) (n=55); both groups had an age range of 2-5 years. The clinical group was subdivided into 4 clinical subgroups based on DSM-IV criteria for: autism, Asperger's syndrome, ADHD and other psychiatric disorders (OPD) (enuresis, encopresis, separation anxiety). Exclusion criteria were: deafness, hypoacusia and other sensorial disorders and mental retardation. A semi-structured interview based on DSM-IV criteria was designed ad hoc to diagnose: autism, Asperger's syndrome, ADHD (inattentive, combined or hyperactive impulsive varieties), specific phobia disorder, tics (transitory, chronic and Tourette's syndrome), dysthymic disorder, depression, enuresis, separation anxiety disorder based on parent information. The clinical evaluation included a semi-structured play session with age-appropriate didactic material. Discrepancies in diagnosis were resolved by consensus. All interviews were conducted by an experienced clinician. The number of bulbs in the household was used to measure socioeconomic status (SES). The LDS is a list of words that explores children's vocabulary based upon parental report. The original survey has a Cronbach's alpha coefficient of 0.99, test-retest coefficient of 0.97-0.99, and a sensitivity and specificity of 86-90%. Language delay (LD) was defined as ≤50 words, as recommended by several researchers. All parents signed an informed consent form and answered the LDS. Statistical analysis. Categorical data was analyzed using a χ2 analysis; continuous data such as age, socioeconomic status, and LDS score, were analyzed using t-tests. To analytically compare the LDS group medians, a Kruskal-Wallis test was used, since the variable distribution violated the normality distribution requirements for parametric tests. For the post hoc tests, a Tamhane analysis was used for groups of different sizes. Differences were considered statistically significant if they had a p<0.05. Results The groups were similar for variables such as child's age, parents' age and the LDS median between the normal development group and the clinical group t(355)=1.12, p=.26. The proportion of male children was greater in the clinical group (CG) than in the TDG, 76.4% vs. 53%, χ2(1,N=357)=10.63, p<.001. SES was higher for the TDG (M=7.2, SD=4.2) than for the CG (M=5.8, SD=3), p<.005. The father's age (r=.15, p<.009), the mother's age (r=.16, p<.003) and the SES (r=.13, p<.01) were correlated to the LDS score. Additionally, father's and mother's age were strongly correlated (r=.72, p<.0001) and the mother's age showed small correlations with the socioeconomic status (r=.15, p<.004). The mother's age was correlated with the child's vocabulary for both sexes (males: r=.16, p<.04, females: r=.16, p<.02), and vocabulary was significantly correlated with the SES, only for the males. Language delay frequency in the TDG was 21.2%, and 23.6% for the CG, χ2(1,N=352)=1.03, p<0.59. By sex, males in both groups exhibited a greater frequency of LD [TDG: 21.6% males vs. 20.7% females, χ2(1,N=302)=.154, p<0.926; CG: 26.2% males vs. 15.4% females, χ2(1,N=55)=.642, p<0.423]. The autism subgroup had the lowest vocabulary rating (M=85, SD=78.68), followed by the OPD subgroup (M=149, SD=121), whose rating was very similar to the typically development group (M=179, SD=105). The Asperger group (M=259, SD=27) had a similar score to the ADHD group (M=286, SD=100.2), which had the highest vocabulary score of all. The Kruskal-Wallis test for median differences was significant [H(4)=17.47, p<.002]. Multiple contrast comparisons and Tamhane's post hoc analysis showed that only the contrast between the autism and the ADHD subgroups (means: 85 vs. 286, respectively) was significant (ANOVA Tamhane post hoc, p<.01).

Introducción Aun cuando los problemas de lenguaje expresivo son muy comunes tanto en la población general (15-20%) como en la clínica (50-75%), su detección es insuficiente. Los problemas de lenguaje requieren atención debido a su comorbilidad con problemas graves del desarrollo como el autismo, el trastorno de Asperger, el trastorno por déficit de la atención e hiperactividad (TDAH) y el retraso mental. En teoría, el vocabulario asociado a estos trastornos psiquiátricos podría identificarse con un instrumento que midiera el vocabulario expresivo. Objetivos 1. Determinar la frecuencia de atraso del lenguaje (AL) (SDL ≤50 palabras) en un grupo con desarrollo típico de la comunidad. 2. Determinar el nivel de vocabulario para los subgrupos de: autismo, trastorno de Asperger (TA), TDAH y otros trastornos psiquiátricos (OTP) por medio del sondeo del desarrollo del lenguaje (SDL). 3. Analizar si el SDL puede discriminar entre los subgrupos clínicos. Sujetos y método La muestra estuvo compuesta por: un grupo de la comunidad con desarrollo típico (GDT) (n=302), y un grupo clínico (GC) (n=55), con un rango de edad de 2-5 años. Se formaron cuatro subgrupos clínicos: autismo, trastorno de Asperger, TDAH y un grupo de OTP (enuresis, encopresis, ansiedad de separación). El SDL es una lista de palabras que identifica el padre sobre el vocabulario de los niños que tiene un coeficiente de alpha de Cronbach de (.99), un test-retest de .97 a .99 y una sensibilidad y especificidad de 86-90%. Se utilizó la definición de atraso de lenguaje (AL) basada en un punto de corte de ≤50 palabras. Análisis estadístico. Los datos categóricos fueron analizados mediante la prueba de chi-cuadrada y para las medidas continuas como la edad, el MSE y el puntaje del SDL se usaron pruebas t de Student. Para el análisis del contraste de las medianas del SDL de los grupos se aplicó una prueba de Kruskal-Wallis. Resultados Los grupos fueron semejantes para las variables como edad del niño, edad de los padres y la media del SDL. La frecuencia de AL (≤50 palabras) fue de 21.2% para el GDT y de 23.6% para la población clínica. Por sexo, los varones presentaron mayor frecuencia de atraso de lenguaje (GDT): 21.6% masculino vs. 20.7% femenino (p<0.926), GC: 26.2% masculino vs. 15.4% femenino (p<0.423). El vocabulario del grupo de autismo fue el menor de todos (Mdn=85, DE=78.68) seguido del grupo de OTP (Mdn=149, DE=121.0) que presentó un desempeño muy semejante al grupo de la comunidad (GDT) (Mdn=179, DE=105.0). El grupo de Asperger (Mdn=259, DE=127) tuvo un puntaje cercano al grupo de TDAH (Mdn=286, DE=100.25). La prueba de Kruskal-Wallis para la diferencia en las medianas fue significativa (p<.002) pero sólo el contraste entre el grupo de autismo y de TDAH (Mdn=85 vs. Mdn=286, p<.01) fue significativo. Discusión La frecuencia de AL para el GDT fue de 21.6% y para el GC fue de 23.6%. El SDL fue sensible en la detección del nivel de vocabulario entre los grupos y los resultados fueron congruentes con el desempeño esperado con algunas excepciones. Los niños con TDAH expresaron un mayor número de palabras comparados con el GDT. El único contraste significativo fue la comparación entre el grupo de TDAH y el autismo. El vocabulario del grupo de Asperger fue mejor que el de autismo, pero esta diferencia no alcanzó significancia estadística. Conclusiones La versión mexicana del SDL es un instrumento de tamizaje útil para identificar el atraso del lenguaje en los niños preescolares. Este estudio muestra que el atraso de lenguaje en un niño preescolar con TDAH es una indicación para profundizar en el diagnóstico del autismo. Tampoco deben pasarse por alto otros trastornos que pueden acompañar o no el TDAH como los trastornos del lenguaje específicos (pronunciación, expresión, comprensión). El SDL mide el vocabulario y no identifica alteraciones del lenguaje cualitativas más complejas asociadas al trastorno de Asperger.

Genome-Wide Association Scan of Korean Autism Spectrum Disorders with Language Delay: A Preliminary Study

OBJECTIVE: Communication problems are a prevalent symptom of autism spectrum disorders (ASDs), which have a genetic background. Although several genome-wide studies on ASD have suggested a number of candidate genes, few studies have reported the association or linkage of specific endophenotypes to ASDs. METHODS: Forty-two Korean ASD patients who showed a language delay were enrolled in this study with their parents. We performed a genome-wide scan by using the Affymetrix SNP Array 5.0 platform to identify candidate genes responsible for language delay in ASDs. RESULTS: We detected candidate single-nucleotide polymorphisms (SNPs) in chromosome 11, rs11212733 (p-value=9.76x10(-6)) and rs7125479 (p-value=1.48x10(-4)), as a marker of language delay in ASD using the transmission disequilibrium test and multifactor dimensionality reduction test. CONCLUSION: Although our results suggest that several SNPs are associated with language delay in ASD, rs11212733 we were not able to observe any significant results after correction of multiple comparisons. This may imply that more samples may be required to identify genes associated with language delay in ASD.

Clinical Usefulness of Capute Developmental Test as a Screening Test for Detecting the Language Delay

OBJECTIVE: To investigate the usefulness of Capute developmental test (Cognitive Adaptive Test/Clinical Linguistic and Auditory Milestone Scale, CAT/CLAMS) as a screening test for detecting the language delay by evaluating the correlation with sequenced language scale for infants (SELSI). METHOD: Subjects were comprised of 101 children (18~48 months) who were referred for evaluation of language delay. Administering CAT/CLAMS, the developmental quotients (DQs) of CAT and CLAMS, including receptive language quotient (RLQ) and expressive language quotient (ELQ), were calculated. The results of RLQ, ELQ and DQs of CAT/CLAMS were compared with the receptive, expressive and total speech quotient (SQ) of SELSI. RESULTS: The correlation between CLAMS DQ and total SQ (r=0.75, p<0.01), between CLAMS RLQ and receptive SQ (r=0.76, p<0.01), and between CLAMS ELQ and expressive SQ (r=0.79, p<0.01) was statistically significant. CLAMS (DQ<70) revealed a sensitivity of 87% and a specificity of 78% for detecting language delay defined by total SQ<70. CONCLUSION: Correlation coefficient comparing CLAMS with SELSI test was significantly high in children with language delay. CLAMS DQ 70 is a reasonable screening cutoff score for detecting total SQ<70.

The usefulness of diagnostic tests in children with language delay / 소아과

PURPOSE: To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. METHODS: From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. RESULTS: Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9%) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and newborn screening tests. CONCLUSION: Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.

Clinical Aspects of Functional Articulation Disorder / 대한소아신경학회지

PURPOSE: Speech and language development is an useful indicator of the overall development of children. Since speech and language delay can lead to emotional, social, and learning problems, the early intervention is very important. We examined 137 children with speech or language problems including 22 children of functional articulation disorders of their clinical features. METHODS: 137 children with speech or language problems in the Department of Pediatrics, Uijeongbu St. Mary's Hospital from January 2004 to December 2007 were reviewed for sex, age, developmental and language test findings retrospectively. Especially, in 22 children diagnosed with functional articulation disorders, articulation test findings were analyzed. RESULTS: 1) The mean age of 137 children was 46.8 months, the ratio of male to female was 2.5:1, and the most frequent age group was 24-35 months. The chief complaints included language delay(67.2%), mispronouncing speech sound(27%), stuttering(3.6%), learning disability(2.2%). The diagnoses of them were developmental language disorder(70.8%), functional articulation disorders(16.1%), mental retardation(5.8%), stuttering(2.9%), tongue tie(0.7%), normal language pattern(3.6%). 2) The mean age of 22 patients with functional articulation disorders was 63 months, the ratio of male to female was 1.4:1, and the most frequent age group was 60-71 months. The mean percentage of consonant correct of Picture Consonant Articulation Test was higher in older age group. In the types of phonetic errors substitutions were most common. Distortions, omissions, and additions were followed in the order of frequency. Substitutions and distortions were common in word initial and medial but omissions in word final. It is appeared that the patients had the difficulties in pronouncing alveolar fricative, palatal affricate, liquid, and velar plosive which mature lately in older children. Mainly palatal affricate, alveolar fricative, and velar plosive were substituted for alveolar plosive and the liquid and alveolar fricative were distorted as gliding. CONCLUSION: Categorizing the cause of language and speech delay is essential to make an adequate treatment plans and decrease the late complications. The future studies for the early screening, more suitable tests in Korean, treatment guidelines or prognosis are needed.

Relationship of Language, Intelligent and Social Quotients in Children with Speech and Language Disorder

OBJECTIVE: To investigate the relationship of language, intelligent and social quotients in children with speech and language disorder and to evaluate the clinical usefulness of language quotient for predicting the extents of cognitive and social functions. METHOD: Total 139 children who visited the department of rehabilitation medicine for the evaluation of suspected speech-language delay. All children were evaluated for receptive and expressive language quotients, articulation accuracy, verbal, performance and full-scale intelligent quotients and social maturation assessment. RESULTS: Approximately 70% of the children who had chief complaints of speech or language disorder were diagnosed as 'receptive and expressive language developmental delay'. Intelligent and social quotients of the children with receptive and expressive language developmental delay were significantly lower than those of the other groups (p<0.05). Both receptive and expressive language quotients, but not dysarticulation, were significantly correlated with intelligent and social quotients (p<0.05). Multiple regression analysis demonstrated that the language quotients could predict intelligent and social quotients as simple equations (p<0.01). CONCLUSION: Primary result of receptive and expressive language quotients from screening test of language evaluation might be able to predict cognitive function and social maturity, which also showed high-degree positive correlation with intelligent and social quotients. This result could provide a useful guideline for further developmental studies in children with speech and language disorder who received primary speech evaluation.

The Efficacy of Speech and Language Therapy for Children with Speech and Language Delays according to the Eiologies / 소아과

PURPOSE: Treatment efficacy for children with speech and language delay has been the subject of considerable debate in recent years. We evaluated the clinical features of children with delayed speech and language and their prognoses according to their etiologies after 6 months of speech and language therapy. METHODS: From January, 2000 to March, 2004, we retrospectively reviewed 56 children with speech and language delay who were administered speech and language therapy for 6 months in Uijongbu St. Mary's Hospital. RESULTS: Of 56 cases, the proportion of developmental language disorder was 66.1 percent, structural malformation 19.6 percent, mental retardation 12.5 percent, hearing defect 1.8 percent. The ratio of male to female was 4.6: 1 and the most frequent age group was over 47 months. The mean age of first spontaneous words with useful meaning was 15.9 months. The mean gestational age of the subjects was 39.8 weeks. The proportion of full-term infants was 96.4 percent and of premature infants was 3.6 percent. As for the birth order, the proportion of the first baby was 51.8 percent, the one of second babies it was 42.9 percent, and percent of third babies it was 7.1 percent. After 6 months of language intervention, 32.4 percent of patients with developmental language disorder showed normal linguistic development. All the patients with mental retardation showed sustained language and speech delay. As for the patients with structural malformations, five out of 11 patients showed normal linguistic development. CONCLUSION: The relatively advanced old age of majority of participants in this study suggests the necessity of screening test for language delay in this local community.

The Relationship between Developmental Quotient in Children with Delayed Language Development and Later Intellectual Quotient / 소아과

PURPOSE: The objective of this study was to test the predictive validity of developmental test for later intellectual development in young children with delayed language development. METHODS: The study subjects were 66 children who had presented delayed language development and had an initial developmental test and a follow-up intelligence test. The mean age at initial test was 34.2 months(17-48 months), and the mean age at the follow-up test was 55.0 months(40-79.5 months). RESULTS: According to CAT DQ(Cognitive Adaptive Test Developmental Quotient), 66 children were divided into 4 groups: group I(CAT DQ = or85). There was a moderate correlation between CAT DQ and later total IQ in group I(r=0.58) and II(r= 0.50), but a low correlation in group III(r=0.19) and IV(r=-0.16). IQs in follow-up tests of all children in group I and II were lower than 70, except two children whose IQs were 75 and 78. IQs of children in group III were lower than 85 except for three children whose IQs were 89, 89, and 90, respectively. CONCLUSION: The findings of this study suggest that if DQ is lower than 70, the child is highly probable to be mentally subnormal in later years. Although the correlation between CAT DQ and later total IQ is low in children with DQs over 70, if a DQ is between 70 and 84, the child is very likely to have learning disability in later years.