• 음성과학
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• 제10권3호
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• pp.47-64
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• 2003

In the present study, the production of grammatical morphemes of Korean-speaking children with and without developmental language impairments was investigated. Ten children with language impairments (LI) (CA: 4; 4-6; 11, LA: 3; .6-5; 10) and 10 normal children (CA: 3;1-6;3, LA: 3;5-5;11) with matched language abilities participated in the study. Sixty pairs of pictures were used to elicit 12 types of predetermined grammatical morphemes. The two pictures of a pair were designed to elicit two sentences of the same sentence structure. After the investigator described one picture of a pair, the children were asked to describe the other picture. The LI children made more errors than the normal children in the production of 6 types of grammatical morphemes including: locative case marker, dative case marker, two connective endings of predicates representing cause and goal, and suffixes for passive and causative verbs. However, the LI children produced some grammatical morphemes as accurately as. the normal children. The two groups were similar in their error patterns. Some explanations for Korean-speaking LI children's use of grammatical morphemes were suggested.

• Clinical and Experimental Pediatrics
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• 제57권8호
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• pp.363-369
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• 2014

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.

• Clinical and Experimental Pediatrics
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• 제58권1호
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• pp.8-14
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• 2015

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.

• Clinical and Experimental Pediatrics
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• 제49권10호
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• pp.1019-1025
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• 2006

Motor delay, when present, is usually the first concern brought by the parents of children with developmental delay. Cerebral palsy that is the most common motor delay, is a nonspecific, descriptive term pertaining to disordered motor function that is evident in early infancy and is characterized by changes in muscle tone, muscle weakness, involuntary movements, ataxia, or a combination of these abnormalities. A wide range of causative disorders and risk factors have been identified for cerebral palsy, and broadly classified into 5 groups; perinatal brain injury, brain injury related to prematurity, developmental abnormalities, prenatal risk factors, and postnatal brain injury. Delay in attaining developmental milestones is the most distinctive presenting complaint in children with cerebral palsy. A detailed history and thorough physical and neurologic examinations are crucial in the diagnostic process. The clinician should be cautious about diagnostic pronouncement unless the findings are unequivocal. Several serial examinations and history review are necessary. All children with cerebral palsy should undergo a neuroimaging study, preferably MRI, because an abnormality is documented on head MRI(89%) and CT(77%). The high incidence rates for mental retardation, epilepsy, ophthalmologic defects, speech and language disorders and hearing impairment make it imperative that all children with cerebral palsy be screened for mental retardation, ophthalmologic and hearing impairments, and speech and language disorders; nutrition, growth, and swallowing also should be closely monitored.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제3권1호
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• pp.46-55
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• 1992

발달성언어장애는 학령기 아동에서 약 $3{\sim}10%의$ 높은 빈도로 발견이 되며 그대로 방치할 경우 열등감, 좌절감, 우울증 등의 정서적인 문제를 일으키며 이차적인 학습장애를 동반한다. 이러한 발달성언어장애의 원인으로서는 사회환경적인 영향, 언어발달시기에 생긴 전도성청음장애로 인한 청각자극의 결핍, 유전적인 영향, 국소적인 뇌의 손상 등 때문으로 주장되지만 아직까지 정확한 기전은 밝혀지지 않고 있다. 이에 본 연구는 뇌전산화단층촬영이나 뇌파검사 등에는 나타나지 않는 국소적인 기질적인 병변이 존재하기 때문이라는 가설을 세우고, 뇌의 기능적인 이상을 알 수 있는 '단일광자방출전산화단층촬영'을 시행한 결과, 61.9%(26/42)에서 혈류의 감소가 있음을 발견하였다. 이상소견이 발견된 뇌의 부위가운데에서 대뇌피질이 47.6%(20/42)로서 가장 많았고, 그 다음으로는 시상부위가 33.3%(14/42)로 많았다. 이러한 결과로 미루어 볼 때 발달성언어장애가 뇌혈류의 이상소견과 관련된 뇌기능장애와 관련되어 나타날 가능성이 있음을 알 수 있었다. 향후 동일한 대상 환아군들을 추적 조사하여 증상이 호전된 후에 다시 단일광자방출전산화단층촬영을 실시하여 본 연구결과와 비교연구를 시행한다면 보다 정확한 원인 규명이 가능할 것으로 판단된다.

• 한국정보통신학회논문지
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• 제4권1호
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• pp.35-43
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• 2000

본 연구는 장애인이 일반인과 똑같이 정보사회에 적응시키기 위해 장애인복지를 위한 정보통신의 발전방향을 연구하였다. 연구의 방법으로는 델파이기법을 도입하였으며, 조사방법으로는 문헌적조사방법과 면담조사방법을 병행하여 연구분석의 틀에 의해 분석하였다. 정보통신에 대한 장애인의 문제점을 살펴보면, 정보통신 접근의 불편, 보편적 서비스 저하, 장애인의 PC 통신 이용 저조, 장애인복지의 낙후, 정보통신요금의 부담, 정보화교육의 부족, 장애인정보의 부족, 장애인복지 정책결정에 장애인 미참여 등으로 분석되었다. 장애인에 필요한 정보통신기술을 살펴보면, 지체장애인에게는 음성인식기술ㆍ화상인식기술ㆍ호흡압력감지기술, 시각장애인에게는 표시기술ㆍ음성인식기술ㆍ문자인식기술ㆍ지적변환처리기술ㆍ화상인식음성합성기술, 청각ㆍ언어장애인에게는 음성신호처리기술ㆍ음성인식기술ㆍ기적변환처리기술ㆍ문자인식기술ㆍ화상인식기술ㆍ음성합성기술이 필요하다. 장애인복지를 위한 정보통신을 발전시키기 위해서는 장애인정보통신위원회의 구성, 보편적 서비스의 제공, 정보화교육의 실시, 연구개발의 지원, 중소정보통신기업의 지원 육성, 소프트웨어산업의 육성, 장애인용 표준화 작업 추진이 요구된다.

• Archives of Plastic Surgery
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• 제46권6호
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• pp.525-534
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• 2019

Background In microtia patients with bilateral hearing impairment, hearing improvement is crucial for language development and performance. External auditory canal reconstruction (EACR) has been performed to improve hearing, but often results in complications. We performed transcutaneous bone conduction implant (TBCI) surgery in these patients. This study aimed to evaluate the safety and efficacy of TBCI surgery. Methods A retrospective review was performed of five patients who underwent auricular reconstruction and TBCI surgery and 12 patients who underwent EACR between March 2007 and August 2018. Hearing improvement was measured based on the air-bone gap values using pure-tone audiometry over a 6-week postoperative period. We reviewed other studies on hearing improvement using EACR and compared the findings with our results. The surgical techniques for TBCI were reviewed through case analyses. Results Postoperative hearing outcomes showed a significant improvement, with a mean gain of 34.1 dB in the TBCI cohort and 14.1 dB in the EACR cohort. Both gains were statistically significant; however, the TBCI cohort showed much larger gains. Only three of the 12 patients who underwent EACR achieved hearing gains of more than 20 dB, which is consistent with previous studies. All patients who underwent TBCI surgery demonstrated hearing gains of more than 20 dB and experienced no device-related complications. Conclusions TBCI is a safe and effective method of promoting hearing gains in microtia patients with bilateral hearing impairment. TBCI surgery provided better hearing outcomes than EACR and could be performed along with various auricular reconstruction techniques using virgin mastoid skin.

• 음성과학
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• 제15권2호
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• pp.119-129
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• 2008

The purpose of this study were to develop short form versions of MacArthur-Bates Communicative Development Inventories - Korean and to discuss clinical implications. Two short versions were developed: one for $9\sim17$ month-olds(including 69 words and 17 object manipulation skills) and the other for $18\sim35$ month-olds (including 128 words and 5 grammatical items). Short versions seemed to be representative of full versions and showed developmental validity. Short versions showed concomitant validity with SELSI which is a standardized test for Korean children under 37 month-olds. Norm tables for words and criteria for object manipulation and grammaticality are also provided. M-B CDI-K short versions could be used as a preliminary screening tool to identify Korean children with language impairment economically and efficiently. Cautions using short versions of M-B CDI-K are discussed.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제12권1호
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• pp.71-78
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• 2001

연구 목적：본 연구는 이전의 연구들이 9번 염색체의 전위와 연관된 정신과적 특성이나 발달학적인 측면에 다루지 않았던 것에 주목, 정신과적인 문제 중 언어나 운동 발달의 지연, 지능저하, 성장지연 등과 같은 아동기의 발달학적인 문제와 행동문제에 초점을 맞추어 9번 염색체의 전위와 어떤 연관성이 있는지의 여부에 대해 알아보기로 하였다. 방 법：1) 1984년부터 2000년까지 서울대학교병원 인구의학연구소에 유전학적 검사가 의뢰된 환자들 중 9번 염색체 전위로 결과가 나온 증례들을 수집하였다. 검사를 의뢰한 진료과, 의뢰한 이유 등에 대한 정보를 얻었다. 2) 9번 염색체 전위를 지닌 소아 청소년 12명을 환아군으로 선정하고 성별, 나이 등이 일치하는 학생 45명을 대조군으로 선정하여 부모에게 과거력조사설문지와 아동청소년 행동평가척도(Korean Child Behavior Check List, 이하 K-CBCL로 약칭)를 배부, 작성하도록 하였다. 결 과：1) 9번 염색체 전위로 결과가 나온 165례 중 검사 의뢰 진료과의 분포는 산부인과(47.3%), 소아과(23.6%), 소아정신과(17.0%)의 순으로 나타났고, 소아과와 소아정신과에서 검사가 의뢰된 경우(67례), 의뢰한 주 이유는 지능저하(35.8%), 언어 또는 운동발달지연(31.3%), Fragile X 증후군 의심(23.9%), 성장지연(20.9%)의 순이었다. 2) K-CBCL 결과상 사회적 미성숙 척도에서 임상범위에 해당된 비율이 환아군에서 대조군에 비해 유의하게 높았고, 환아군이 대조군보다 언어나 운동 발달 영역에서 발달이 늦는 것으로 나타났다. 결 론：본 연구는 9번 염색체의 전위와 연관된 발달학적인 측면을 다룬 최초의 연구로 아동기의 발달학적인 문제나 행동문제에 있어서 연관성을 시사하는 결과를 보였다. 정신과적인 문제와 연관된 유전자의 다양한 표현형을 밝혀 나가는 토대가 되기를 기대해 본다.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.94-99
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• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.