OBJECTIVE: To analyze speech and linguistic features in children with articulation disorder characterized by consonant and vowel phonological errors. METHODS: Between February 2007 and June 2015, 117 children who showed articulation disorder were selected for the study. Based on comprehensive speech and language assessments, the subjects were classified into articulation dysfunction (AD), or AD overlapping with language delay. Detailed information of articulation, including percentage of consonants correct (PCC) and normal percentage of variable consonants derived from the Assessment of Phonology and Articulation for Children test, were compared between the two groups. RESULTS: Totally, 55 children were diagnosed as AD and 62 as AD with language delay. Mean PCC was not significantly different between the two groups. In both groups, the acquisition order of consonants followed the universal developmental sequence. However, differences were observed in the nasal & plosive consonants abnormality between the two groups. When adjusted to their delayed language level in AD with language delay group, 53% of children had appropriate articulation function for their expressive language level. CONCLUSION: Speech and linguistic characteristics in children with articulation disorder were variable. Therefore, comprehensive assessment is required in children with inaccurate pronunciation, and a proper treatment plan based on the results of assessment should be followed.
Articulation Disorders* ; Child* ; Humans ; Language Development Disorders ; Linguistics*

OBJECTIVE: To investigate the usefulness of MacArthur-Bates Communicative Development Inventories-Korean (M-B CDI-K) short form as a screening test in children with language developmental delay. METHODS: From April 2010 to May 2012, a total of 87 patients visited the department of physical medicine and rehabilitation of National Health Insurance Service Ilsan Hospital with the complaint of language developmental delay and were enrolled in this study. All patients took M-B CDI-K short form and Sequenced Language Scale for Infants (SELSI) or Preschool Receptive-Expressive Language Scale (PRES) according to their age. RESULTS: The study group consisted of 58 male patients and 29 female patients and the mean age was 25.9 months. The diagnosis are global developmental delay in 26 patients, selective language impairment in 31 patients, articulation disorder in 7 patients, cerebral palsy in 8 patients, autism spectrum disorder in 4 patients, motor developmental delay in 4 patients, and others in 7 patients. Seventy-one patients are diagnosed with language developmental delay in SELSI or PRES and of them showed 69 patients a high risk in the M-B CDI-K short form. Sixteen patients are normal in SELSI or PRES and of them showed 14 patients non-high risk in the M-B CDI-K short form. The M-B CDI-K short form has 97.2% sensitivity, 87.5% specificity, a positive predictive value of 0.97, and a negative predictive value of 0.88. CONCLUSION: The M-B CDI-K short form has a high sensitivity and specificity so it is considered as an useful screening tool in children with language developmental delay. Additional researches targeting normal children will be continued to supply the specificity of the M-B CDI-K short form.
Articulation Disorders ; Cerebral Palsy ; Autism Spectrum Disorder ; Child* ; Diagnosis ; Female ; Humans ; Infant ; Language Development Disorders ; Language Development* ; Male ; Mass Screening* ; National Health Programs ; Physical and Rehabilitation Medicine ; Sensitivity and Specificity

BACKGROUND: Subclinical hypothyroidism is frequently discovered from hypercholesterolemic adults. It is defined as an asymptomatic state which characterized by normal free thyroxine (FT4) and elevated thyroid stimulating hormone (TSH) level. Hypercholesterolemia is a major risk factor for coronary heart disease, however hypercholesterolemia caused by hypothyroidism can be easily managed by thyroid hormone replacement. The screening of thyroid disease in hypercholesterolemia patient must be emphasized in order to find out correctable hypothyroidism. So we screened the prevalence of overt and subclinical hypothyroidism at different hypercholesterol levels in middle-aged men and women and also analyzed the correlation between TSH and total cholesterol level. METHODS: We measured serum TSH levels and FT4 by radioimmunoassay from 491 patients with hypercholesterolemia. The subjects were divided into two groups according to serum cholesterol level. Group I was serum cholesterol > or = 240 -<300 mg/dL and group II was > or = 300 mg/dL. Subclinical hypothyroidism was defined as TSH levels higher than 4 mU/L, in the presence of normal FT4 concentration. RESULTS: The overall prevalence of subclinical and overt hypothyroidism was 3.4% and 2.5% in men and 4.7% and 3.5% in women of middle age. In men the prevalence of overt and subclinical hypothyroidism increased from 2.3% of group I to 16.1% in the group II (p<0.05). In women that increased from 5.2 % to 12.9 % (p<0.05). After age correction, an increase of 1 mU/L TSH in men was associated with an increase of 3.2 mg/dL total cholesterol (p<0.01). A similar trend was also found in women (2.1 mg/dL p=0.052). CONCLUSION: In this population, the prevalence of hypothyroidism is up to 16.1% in middle-aged men, 12.9% in middle-aged women with high total cholesterol and it may justify screening of thyroid disease in hypercholesterolemic patients especially in clinical practice.
Adult* ; Asymptomatic Diseases ; Cholesterol* ; Coronary Disease ; Female ; Humans ; Hypercholesterolemia ; Hypothyroidism* ; Male ; Mass Screening ; Middle Aged ; Prevalence* ; Radioimmunoassay ; Risk Factors ; Thyroid Diseases ; Thyroid Gland ; Thyrotropin ; Thyroxine

BACKGROUND: Congenital adrenal hyperplasia (CAH) results from an inherited defect in enzymatic steps required to synthesize cortisol from cholesterol. 21-hydroxylase deficiency accounts for 95% cases of CAH. It appears that the frequency and the type of the responsible mutations differ according to the ethnic background and the type of mutation can predict the clinical outcomes such as salt losing type (SL), simple virilizing type (SV) and non-classic type (NC). METHODS: We have analyzed CYP21 genes in 55 Korean cases (110 chromosomes) of CAH by Southern blotting, PCR-dot hybridization and PCR amplification-created restriction site method. The patients include 43 cases of SL and 12 of SV. None of the NC was found. RESULTS: We found the mutations in 94% (103/110) of the examined chromosomes. A total of 10 types of mutations were discovered. The mutations include aberrant splicing of intron 2 (i2, 35%), CYP21 gene deletion (32%) and I172N (11%) in order. When the relationship between the clinical types and genotypes were correlated, most of the SL patients have either i2 (42%) or CYP21 gene deletion (41%), while SV patients have I172N (33%) or P30L (21%). The parents' mutation was investigated in 20 cases. In 4 families, one of the parents was not the obligatory heterozygote carrier i.e. did not have a mutation. The results suggest the high incidence of de novo mutation. CONCLUSION: We have identified the frequency of mutations of the CYP21 in Korean AGS patients. Our results shows that the clinical type of AGS can be predicted from the genotypes of CYP21. Also the high incidence of de novo mutation of CYP21 confirmed the genetic instability of major histocompatibility III region where the CYP21 is located.
Adrenal Hyperplasia, Congenital ; Adrenogenital Syndrome* ; Blotting, Southern ; Cholesterol ; Gene Deletion ; Genotype* ; Heterozygote ; Histocompatibility ; Humans ; Hydrocortisone ; Incidence ; Introns ; Parents ; Phenotype* ; Polymerase Chain Reaction ; Steroid 21-Hydroxylase*