Search

  • HOME
  • Search
Review Article
Comprehensive evaluation of the child with global developmental delays or intellectual disability
Abdullah Aldosari, Tahani Aldosari
Global developmental delay (GDD) and intellectual disability (ID) are relatively common neurodevelopmental disorders that significantly impact affected children, their families, and society. The etiology of GDD/ID is notably diverse, encompassing both genetic and acquired factors. Although the precise cause of most GDD/ID cases remains unclear, an estimated half of all cases can be attributed to genetic factors. Thus, a detailed...
Neurology
Worldwide national intervention of developmental screening programs in infant and early childhood
Seunghyo Kim
Clin Exp Pediatr. 2022;65(1):10-20.   Published online September 30, 2021
∙ Prevalence rate of developmental disabilities has been reported from 8% to 15% and its rate is increasing worldwide.
∙ The critical period of intervention for developmental delay is before the child reaches 3 years of age.
∙ All primary care pediatricians should conduct developmental surveillance and screening tests to infants and children at scheduled visits. Through this, they are liable for providing early identification and timely intervention.
Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability
Ji Yoon Han, In Goo Lee
Clin Exp Pediatr. 2020;63(6):195-202.   Published online November 4, 2019
Developments in next-generation sequencing (NGS) techogies have assisted in clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances in DNA sequencing technology have not only allowed the evolution of targeted panels but also, and more currently enabled genome-wide analyses to progress from research era to clinical practice. Broad acceptance of accuracy- guided targeted gene...
Malformations of cortical development: genetic mechanisms and diagnostic approach
Jeehun Lee
Clin Exp Pediatr. 2017;60(1):1-9.   Published online January 31, 2017

Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact...

Case Report
Neurology
1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis
Dong Soo Kang, Eunsim Shin, Jeesuk Yu
Clin Exp Pediatr. 2016;59(Suppl 1):S14-S18.   Published online November 30, 2016

Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000–10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of...

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism
Young-Jin Choi, Eunsim Shin, Tae Sik Jo, Jin-Hwa Moon, Se-Min Lee, Joo-Hwa Kim, Jae-Won Oh, Chang-Ryul Kim, In Joon Seol
Clin Exp Pediatr. 2016;59(2):91-95.   Published online February 29, 2016

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted....

Original Article
Study on the neurodevelopmental predictors for the results of the Bayley Scales of Infant Development II in high-risk neonates
Mi Kyeong Woo, Dong Wook Kim, Kyoung Huh, Gyu Hong Shim, Myoung Jae Chey
Clin Exp Pediatr. 2009;52(11):1221-1227.   Published online November 15, 2009
Purpose : To identify the risk factors for poor neurodevelopmental outcomes in high-risk neonates. Methods : We studied 94 infants admitted to the neonatal intensive care unit at the Sanggye Paik Hospital between January 2002 and November 2005 and evaluated the follow-up data. The following events were considered as risk factors: ≤32 weeks of gestation, very low birth weight, Apgar scores...
The Developmental Outcome of Fetal Mild Isolated Ventriculomegaly
Myung Sook Jeong, Jung Mi Chun, Kyung Ah Kim, Sun Young Ko, Yeon Kyung Lee, Son Moon Shin, Eu Ree Lee
Clin Exp Pediatr. 2005;48(8):826-831.   Published online August 15, 2005
Purpose : This study is directed to evaluate standardized developmental test performances of infants and children who, as fetuses, had mild isolated cerebral ventriculomegaly diagnosed by ultrasound. Methods : All prenatal sonographic findings from 2001 to 2002 were evaluated. Live isolated mild ventriculomegaly(IMVM) of 10-15 mm were observed in 95 cases(1.1 percent). Standardized developmental testing of 40 cases of IMVM and...
Clinical Lecture
Neurological Examination after the Newborn Period until 3 Years of Age
Soonhak Kwon
Clin Exp Pediatr. 2004;47(11):1142-1148.   Published online November 15, 2004
The children should not be regarded as miniature adults since they are in the dynamic process of growth and development. Among many pediatric problems, the developmental delay may be central to them. For this reason, primary care physicians, especially pediatricians should be able to manage children with probable developmental delays because early detection and treatment of developmental delay or neurological...
Original Article
Characteristics of Developmentally Delayed Infants and Young Children Who Demonstrated Normal Myelination by Brain MRI
Young Se Kwon, Yong Hoon Jun, Young Jin Hong, Byong Kwan Son, Kyoung Hee Lee
Clin Exp Pediatr. 2004;47(10):1081-1086.   Published online October 15, 2004
Purpose : To evaluate the clinical characteristics of infants and young children who had developmental delay without delayed myelination and dysmyelination. Methods : We retrospectively reviewed 59 cases of developmental disability between July 1996 and June 2001 at Inha University Hospital. Twenty-eight patients showed normal myelination(Group I), while thirty-one patients showed delayed myelination(Group II) by brain MRI. The following clinical records...
Case Report
A Case of Ring Chromosome 21 with Multiple Congenital Anomalies
Jun-Hwa Lee, Eul-Ju Seo
Clin Exp Pediatr. 2003;46(3):291-294.   Published online March 15, 2003
Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate,...
Erratum
A Case of Joubert Syndrome
Hye-Young Kim, Sun-Jun Kim, Jung-Soo Kim
Accepted January 1, 1970  
Joubert syndrome is frequently associated with developmental delay and mental retardation, neonatal tachypnea and apnea, abnormal eye movements, and ataxia. It is inherited by an autosomal recessive trait. The most significant and constant neuropathological finding is partial or total agenesis of cerebellar vermis. Absence of the vermis results in a triangular-shaped mid-fourth ventricle and a "bat-wing" shaped fourth ventricle superiorly. The superior cerebellar peduncles...
Original Article
A Clinical Study on Duchenne Muscular Dystrophy
Moon Sun Yang, Su Ahn Chae, Ki Joong Kim, Yong Seung Hwang
Clin Exp Pediatr. 1992;35(5):652-658.   Published online May 15, 1992
Twenty-five cases of Duchenne muscular dystrophy(DMD) who were diagnosed in the department of pediatrics, Seoul national university hospital (from Jan. 1985 to June 1991) were reviewed. The results were as follows. 1) All of the patients were male. 2) The onset of symptoms was between two and eight years of age. The peak incidence was at four years of age. 3) Chief complaints...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)