Humans ; Language Development Disorders/diagnosis* ; Early Diagnosis ; Child

Child ; Humans ; Speech ; Physicians, Primary Care ; Language Development Disorders/diagnosis* ; Speech Disorders

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.
Anticonvulsants ; Atrial Septum ; Developmental Disabilities ; Early Diagnosis* ; Electroencephalography ; Exome* ; Hearing Loss ; Heart Septal Defects, Ventricular ; Humans ; Hypertelorism ; Infant ; Intellectual Disability ; Language Development Disorders ; Male ; Neurodevelopmental Disorders ; Neurologic Manifestations ; Phenotype ; Seizures

OBJECTIVE: To investigate the usefulness of the communication domain in the Korean version of Ages and Stages Questionnaire (K-ASQ), and short form of the Korean version of MacArthur-Bates Communicative Development Inventories (M-B CDI-K), as screening tests for language developmental delay. METHODS: Data was collected between April 2010 and December 2013, from children who visited either the Department of Physical Medicine and Rehabilitation or the Developmental Delay Clinic, presenting with language development delay as their chief complaint. All the children took the short form of M-B CDI-K and K-ASQ as screening tests, and received diagnostic language assessments including Sequenced Language Scale for Infants (SELSI) or Preschool Receptive-Expressive Language Scale (PRES). RESULTS: A total of 206 children, mean age 29.7 months, were enrolled. The final diagnoses were developmental language disorder, global developmental delay, autism spectrum disorder, cerebral palsy, etc. The M-B CDI-K short form and the communication domain of the K-ASQ had 95.9% and 76.7% sensitivity, and 82.4% and 85.3% specificity, with regards to diagnostic language assessments. The M-B CDI-K short form showed higher negative predictive value and better accuracy than the communication domain of the K-ASQ. CONCLUSION: The screening ability of K-ASQ was not sufficient for children with language development delay, and the M-B CDI-K short form should be implemented for additional screening.
Autism Spectrum Disorder ; Cerebral Palsy ; Child ; Diagnosis ; Equipment and Supplies ; Humans ; Infant ; Language Development Disorders ; Language Development* ; Mass Screening* ; Physical and Rehabilitation Medicine ; Sensitivity and Specificity

PURPOSE: High-functioning autism spectrum disorder (ASD) involves pragmatic impairment of language skills. Among numerous tasks for assessing pragmatic linguistic skills, idioms are important to evaluating high-functioning ASD. Nevertheless, no assessment tool has been developed with specific consideration of Korean culture. Therefore, we designed the Korean Autism Social Language Task (KASLAT) to test idiom comprehension in ASD. The aim of the current study was to introduce this novel psychological tool and evaluate idiom comprehension deficits in high-functioning ASD. MATERIALS AND METHODS: The participants included 42 children, ages 6-11 years, who visited our child psychiatric clinic between April 2014 and May 2015. The ASD group comprised 16 children; the attention deficit hyperactivity disorder (ADHD) group consisted of 16 children. An additional 10 normal control children who had not been diagnosed with either disorder participated in this study. Idiom comprehension ability was assessed in these three groups using the KASLAT. RESULTS: Both ASD and ADHD groups had significantly lower scores on the matched and mismatched tasks, compared to the normal control children (matched tasks mean score: ASD 11.56, ADHD 11.56, normal control 14.30; mismatched tasks mean score: ASD 6.50, ADHD 4.31, normal control 11.30). However, no significant differences were found in scores of KASLAT between the ADHD and ASD groups. CONCLUSION: These findings suggest that children with ASD exhibit greater impairment in idiom comprehension, compared to normal control children. The KASLAT may be useful in evaluating idiom comprehension ability.
Autism Spectrum Disorder/*diagnosis/psychology ; Child ; *Comprehension ; Female ; Humans ; Language ; Language Development Disorders/*diagnosis/psychology ; Language Disorders/*psychology ; Language Tests/*standards ; Male ; Reproducibility of Results

In patients with a language developmental delay, it is necessary to make a differential diagnosis for autism spectrum disorders (ASDs), specific language impairment, and mental retardation. It is important that pediatricians recognize the signs and symptoms of ASDs, as many patients with language developmental delays are ultimately diagnosed with ASDs. Pediatricians play an important role in the early recognition of ASDs, because they are usually the first point of contact for children with ASDs. A revision of the diagnostic criteria of ASDs was proposed in the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) that was released in May 2013. The autism spectrum describes a range of conditions classified as neurodevelopmental disorders in the fifth edition of the DSM. The new diagnostic criteria encompasses previous elements from the diagnosis of autistic disorder, Asperger disorder, childhood disintegrative disorder, and pervasive developmental disorder-not otherwise specified. An additional change to the DSM includes synthesizing the section on social and communication deficits into one domain. In ASD patients, the appropriate behavioral therapies and rehabilitation treatments significantly affect the prognosis. Therefore, this makes early diagnosis and treatment very important. In conclusion, pediatricians need to be able to recognize the signs and symptoms of ASDs and be attentive to them in order to make an early diagnosis and provide treatment.
Asperger Syndrome ; Autistic Disorder ; Child ; Autism Spectrum Disorder* ; Developmental Disabilities ; Diagnosis ; Diagnosis, Differential ; Diagnostic and Statistical Manual of Mental Disorders ; Early Diagnosis ; Genetics ; Humans ; Intellectual Disability ; Language Development ; Prognosis ; Rehabilitation

PURPOSE: This study examines changes in developmental profiles of children with language delay over time and the clinical significance of assessment conducted at age 2-3 years. METHODS: We retrospectively reviewed the medical records of 70 children (62 male, 8 female), who had visited the hospital because of delayed language development at 2-3 years, and were reassessed at ages 5-6. Language and cognitive abilities were assessed using multiple scales at the initial and follow-up visits. RESULTS: At the initial test, 62 of the 70 children had mental development index (MDI) below 70 of Bayley Scales of Infant Development Test II. Of the 62 children in the follow-up assessment, 30 children (48.4%) remained within the same cognitive range (full-scale intelligence quotient, FSIQ<70 of Wechsler preschool and primary scale of intelligence), 12 had borderline intellectual functioning (FSIQ, 70-85), 6 improved to average intellectual functioning (FSIQ>85), and 5 had specific language impairment, 9 had autism spectrum disorders. At the initial test, 38 of the 70 children had cognitive developmental quotients (C-DQ) below 70. Of the 38 children in the follow-up assessment, 23 children (60.5%) remained within the same cognitive range (FSIQ<70). The correlation coefficient for MDI and FSIQ was 0.530 (P<0.0001) and that for C-DQ and FSIQ was 0.727 (P<0.0001). There was a strong correlation between C-DQ and FSIQ, and a moderate correlation between MDI and FSIQ. CONCLUSION: Low MDI scores reflect a specific delay in cognitive abilities, communication skills, or both. The C-DQ, receptive language development quotient, and social maturity quotient also help to distinguish between children with isolated language delay and children with cooccurring cognitive impairment. Moreover, changes in the developmental profile during preschool years are not unusual in children with language delay. Follow-up reassessments prior to the start of school are required for a more accurate diagnosis and intervention.
Child ; Child Development ; Autism Spectrum Disorder ; Child, Preschool* ; Cognition ; Diagnosis ; Follow-Up Studies ; Humans ; Intelligence ; Language Development Disorders ; Language Development* ; Male ; Medical Records ; Retrospective Studies ; Weights and Measures

OBJECTIVE: To compare and analyze the clinical characteristics of children with delayed language acquisition due to two different diagnoses, which were specific language impairment (SLI, a primarily delayed language development) and global developmental delay (GDD, a language delay related to cognitive impairment). METHODS: Among 1,598 children who had visited the developmental delay clinic from March 2005 to February 2011, 467 children who were diagnosed with GDD and 183 children who were diagnosed with SLI were included in this study. All children were questioned about past, family, and developmental history, and their language competences and cognitive function were assessed. Some children got electroencephalography (EEG), in case of need. RESULTS: The presence of the perinatal risk factors showed no difference in two groups. In the children with GDD, they had more delayed acquisition of independent walking and more frequent EEG abnormalities compared with the children with SLI (p<0.01). The positive family history of delayed language development was more prevalent in children with SLI (p<0.01). In areas of language ability, the quotient of receptive language and expressive language did not show any meaningful statistical differences between the two groups. Analyzing in each group, the receptive language quotient was higher than expressive language quotient in both group (p<0.01). In the GDD group, the Bayley Scales of Infant Development II (BSID-II) showed a marked low mental and motor quotient while the Wechsler Intelligence Scale showed low verbal and nonverbal IQ. In the SLI group, the BSID-II and Wechsler Intelligence Scale showed low scores in mental area and verbal IQ but sparing motor area and nonverbal IQ. CONCLUSION: The linguistic profiles of children with language delay could not differentiate between SLI and GDD. The clinicians needed to be aware of these developmental issues, and history taking and clinical evaluation, including cognitive assessment, could be helpful to diagnose adequately and set the treatment plan for each child.
Child ; Child Development ; Diagnosis ; Electroencephalography ; Humans ; Intelligence ; Language ; Language Development ; Language Development Disorders ; Linguistics ; Risk Factors ; Walking ; Weights and Measures

PURPOSE: It is well known that expressive language impairment is commonly less severe than receptive language impairment in children with autism spectrum disorder (ASD). However, this result is based on experiments in Western countries with Western language scales. This study tries to find whether the result above is applicable for toddlers in a non-Western country; more specifically, in Korea with non-Western language scales. MATERIALS AND METHODS: The participants were 166 toddlers aged between 20 months and 50 months who visited the clinic from December 2010 to January 2013. The number of toddlers diagnosed as ASD and developmental language delay (DLD) was 103 and 63, respectively. Language development level was assessed using Sequenced Language Scale for Infants (SELSI), a Korean language scale. Using SELSI, each group was divided into 3 sub-groups. Moreover, the group difference by age was observed by dividing them into three age groups. Chi-square test and linear-by-linear association was used for analysis. RESULTS: Receptive language ability of the DLD group was superior to that of the ASD group in all age groups. However, expressive language ability in both groups showed no difference in all age groups. A greater proportion of expressive dominant type was found in ASD. The 20-29 months group in ASD showed the largest proportion of expressive language dominant type in the three age groups, suggesting that the younger the ASD toddler is, the more severe the receptive language impairment is. CONCLUSION: These findings suggest that receptive-expressive language characteristics in ASD at earlier age could be useful in the early detection of ASD.
Child Development Disorders, Pervasive/*complications ; Child, Preschool ; Developmental Disabilities/*complications ; Early Diagnosis ; Female ; Humans ; Infant ; *Language ; *Language Development ; Language Development Disorders/complications/*diagnosis ; Language Tests ; Male ; Republic of Korea

PURPOSE: As a preliminary study on the development of a new developmental screening tool, this study examined the validity of the Korean Ages and Stages Questionnaires (K-ASQ). METHODS: The clinical sample included a total of 218 Infants and children at 30, 36, 60 months of age, who were diagnosed with developmental disorders. Age- and sex-matched normal controls were selected from a national large-scale K-ASQ database. Sensitivity, specificity, and accuracy were calculated in different age and diagnosis groups, and receiver operating characteristic (ROC) curve analysis was performed as well. In addition, concurrent validity was analyzed for the clinical sample by comparing the K-ASQ with other reference scales. RESULTS: The sensitivity, specificity, and accuracy of the K-ASQ were above fair (0.82-0.96) overall, however they varied depending on age and diagnosis groups. Specifically, the sensitivity at 60 months was relatively low (0.65). Especially, the discrimination sensitivity for the language delay group was poor at 60 months (0.42). ROC analysis showed that the overall discrimination capacity was above fair in all 5 domains [area under the curve (AUC): 0.74-0.98]. However, there were some domains and age groups with relatively poor discrimination capacity. In terms of concurrent validity, the correlations between the K-ASQ domains and reference scale subscales were statistically significant overall, but weak in some domains. CONCLUSION: The overall discrimination capacity and concurrent validity of the K-ASQ were above fair, but there were some domains, age, and diagnosis groups in which the K-ASQ was not successful in identifying potentially developmentally challenged children. These findings suggested the need for the development of a new developmental screening test tool, which is suitable for Korean infants & children.
Child* ; Diagnosis ; Discrimination (Psychology) ; Humans ; Infant* ; Language Development Disorders ; Mass Screening ; Surveys and Questionnaires* ; ROC Curve ; Sensitivity and Specificity ; Weights and Measures