Search

  • HOME
  • Search
Original Article
Neurology
Neurodevelopmental outcomes and comorbidities of children with congenital muscular torticollis: evaluation using the National Health Screening Program for Infants and Children database
Og Hyang Kim, Seung Won Lee, Eun Kyo Ha, Ju Hee Kim, Yun Hye Jo, Seongyeong Rhie, Man Yong Han, Kyu Young Chae
Clin Exp Pediatr. 2022;65(6):312-319.   Published online December 9, 2021
Question: What comorbidities are increased in children with congenital muscular torticollis (CMT)? Are there differences in the neurodevelopmental outcomes of children with CMT who received physical therapy versus those who did not?
Finding: The risk of congenital musculoskeletal deformities is increased in CMT. Children who did not receive physical therapy were at greater risk of neurodevelopmental delay.
Meaning: In CMT, musculoskeletal comorbidities should be identified and active early treatment provided.
Developmental and Behavioral Medicine
Application of array comparative genomic hybridization in Korean children under 6 years old with global developmental delay
Kyung Yeon Lee, Eunsim Shin
Clin Exp Pediatr. 2017;60(9):282-289.   Published online September 21, 2017
Purpose

Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay.

Methods

We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had...

Genetics and Metabolism
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2016;59(1):16-23.   Published online January 22, 2016
Purpose

The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the...

Case Report
De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
Ha-Su Kim, Jin-Yeong Han, Myo-Jing Kim
Clin Exp Pediatr. 2015;58(8):313-316.   Published online August 21, 2015

Interstitial deletions involving the chromosome band 15q22q24 are very rare and only nine cases have been previously reported. Here, we report on a 12-day-old patient with a de novo 15q22q23 interstitial deletion. He was born by elective cesarean section with a birth weight of 3,120 g at 41.3-week gestation. He presented with hypotonia, sensory and neural hearing loss, dysmorphism with...

Review Article
Metabolic evaluation of children with global developmental delay
So-Hee Eun, Si Houn Hahn
Clin Exp Pediatr. 2015;58(4):117-122.   Published online April 22, 2015

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of...

Recent update of autism spectrum disorders
Sung Koo Kim
Clin Exp Pediatr. 2015;58(1):8-14.   Published online January 31, 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...

Original Article
Lowe syndrome: a single center's experience in Korea
Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Clin Exp Pediatr. 2014;57(3):140-148.   Published online March 31, 2014
Purpose

Lowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global developmental delay. This study evaluated the clinical and genetic characteristics of Korean patients with Lowe syndrome.

Methods

The clinical findings and results of genetic studies were...

Case Report
A case of megalencephalic leukoencephalopathy with subcortical cysts
Eun Young Park, Young Ok Kim, Ji Youn Kim, Chae Young Yeo, Hee Jo Baek, Chan Jong Kim, Eun Young Kim, Young Jong Woo
Clin Exp Pediatr. 2008;51(12):1342-1345.   Published online December 15, 2008
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare white matter disorder, first described in the early 1990s. The brain in patients with MLC appears swollen on MRI, with diffuse white matter abnormalities; in addition, there is an invariable presence of subcortical cysts, primarily in the anterior temporal region sparing the deep white matter, basal ganglia, thalami, and cerebellum. Patients...
Original Article
Improved survival rate with decreased neurodevelopmental disability in extreme immaturity
Ga Won Jeon, Myo Jing Kim, Sung Shin Kim, Jae Won Shim, Yun Sil Chang, Won Soon Park, Mun Hyang Lee
Clin Exp Pediatr. 2007;50(11):1067-1071.   Published online November 15, 2007
Purpose : The aim of this study was to determine whether improved survival of extremely low birth weight infants (ELBWI) was associated with decreased neurodevelopmental disability later in life, and also to identify the factors influencing this disability. Methods : ELBWI admitted to the neonatal intensive care unit of Samsung Medical Center, survived, and followed up until the corrected age...
Case Report
Costello syndrome: three sporadic cases
Ji Youn Kim, Mi Jeong Kim, Eun Song Song, Young Kuk Cho, Young Youn Choi, Jae Sook Ma
Clin Exp Pediatr. 2007;50(10):1024-1029.   Published online October 15, 2007
Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was...
  • PubMed Central
  • PubMed
  • Scopus
  • Directory of Open Access Journals (DOAJ)


Close layer
prev next