• Title/Summary/Keyword: Developmental delay

Search Result 296, Processing Time 0.029 seconds

Organic Acidopathies as Etiologic Diseases of Developmental Delay in Korean Childhood and Adolescent Age Group (한국인 소아청소년기 발달지연의 원인질환으로서의 유기산대사이상질환)

  • Lee, Jong Yoon;Lee, Ye Seung;Choi, Joong Wan;Bae, Eun Joo;Park, Won Il;Oh, Phil Soo;Lee, Hong Jin
    • Journal of The Korean Society of Inherited Metabolic disease
    • /
    • v.12 no.2
    • /
    • pp.85-93
    • /
    • 2012
  • Purpose: Developmental delay is caused by very diverse etiologic diseases. Most chronic disorders has some influence on development. Chronic or acute disorders of CNS are main etiologic diseases of developmental delay. Up to now, over 60 diseases are included in organic acidopathies and most of them causes acute or chronic recurrent CNS damage and developmental delay. We have done this study to find out the importance of organic acidopathies causing developmental delay in Korean childhood and adolescent patients. Method: Retrograde analysis for 738 patients with developmental delay whose clinical informations are available and have done urine organic acid analysis for 5 years period, between Jan. 1st 2007 to Dec. 31th 2011. Statistical analysis was done with Student's t test using SPSS. Result: Out of 738 patients, 340 patients (46.1%) showed abnormalities on urine organic acid analysis. The most frequent disease was mitochondrial respiratory chain disorders (MRCD) (253, 34.3%), followed by ketolytic defects(39, 5.3%), 3-hydroxyisobutyric aciduria (26, 3.5%), glutaric aciduria type II (8, 1.1%), pyruvate dehydrogenase deficiency (3, 0.4%), 3-methylglutaric aciduria (2, 0.3%), glutaric aciduria type I (2, 0.3%), ethylmalonic aciduria (1, 0.15%), methylmalonic aciduria (1, 0.15%), HMG-CoA lyase deficiency (1, 0.15%), 3-methylcrotonylglycinuria (1, 0.15%), fatty acid oxidation disorders(1, 0.15%) and FAOD (1, 0.15%). Conclusion: Mitochondrial disorders are most frequent etiologic disease on all age group, followed by ketolytic defects and various organic acidopathies. The number and diversities of organic acidopathies emphasize meticulous evaluation of basic routine laboratory examinations and organic acid analysis with initial sample on every developmental patient.

  • PDF

Genetic Basis of Early-onset Developmental and Epileptic Encephalopathies

  • Hwang, Su-Kyeong
    • Journal of Interdisciplinary Genomics
    • /
    • v.3 no.1
    • /
    • pp.13-20
    • /
    • 2021
  • Developmental and epileptic encephalopathies are the most devastating early-onset epilepsies, characterized by early-onset seizures that are often intractable, electroencephalographic abnormalities, developmental delay or regression, and various comorbidities. A large number of underlying genetic variants of developmental and epileptic encephalopathies have been identified over the past few decades. However, the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. This review explores the genetic basis of developmental and epileptic encephalopathies that start within the first year of life, including Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, infantile spasms, and Dravet syndrome. The purpose of this review is to give an overview and encourage the clinicians to start considering genetic testing as an important investigation along with electroencephalogram for better understanding and management of developmental and epileptic encephalopathies.

Validity of the Korean Developmental Screening Test for very-low-birth-weight infants

  • Kim, Chae Young;Jung, Euiseok;Lee, Byong Sop;Kim, Ki-Soo;Kim, Ellen Ai-Rhan
    • Clinical and Experimental Pediatrics
    • /
    • v.62 no.5
    • /
    • pp.187-192
    • /
    • 2019
  • Purpose: The importance of the neurodevelopmental outcomes of very-low-birth-weight (VLBW) infants has been emphasized as their mortality rate has markedly improved. This study aimed to assess the validity of the Korean Developmental Screening Test (K-DST), a developmental screening tool approved by the Korean Society of Pediatrics, for the timely diagnosis of neurodevelopmental delay in VLBW infants. Methods: Subjects included VLBW infants enrolled in the Korean Neonatal Network database between January 2012 and December 2014. The collected data were analyzed for sensitivity, specificity, positive predictive value, and negative predictive value (NPV) in the K-DST compared to those in the Bayley Scales of Infant Development-II for VLBW infants. Results: A total of 173 patients were enrolled. Their mean gestational age and mean birth weight were $27.5{\pm}2.8weeks$ and $980.5{\pm}272.1g$, respectively. The frequency of failed psychomotor developmental index (PDI) <85 was similar to that in at least one domain of K-DST <1 standard deviation. Failure in more than one K-DST domain compared with a mental developmental index (MDI) <85 showed a sensitivity and NPV of 73.2% and 75.0%, respectively. Failure in more than one K-DST domain compared with PDI <85 showed a sensitivity and NPV of 60.3% and 71.6%, respectively. Each K-DST domain had a stronger correlation with predicting a failing MDI <85 than a failing PDI <85 (P<0.05). Conclusion: K-DST could be a useful screening tool for predicting mental developmental delay in VLBW infants and referring them for neurodevelopmental assessments.

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms

  • Kim, Yoon-Myung;Choi, In-Hee;Kim, Jun Suk;Kim, Ja Hye;Cho, Ja Hyang;Lee, Beom Hee;Kim, Gu-Hwan;Choi, Jin-Ho;Seo, Eul-Ju;Yoo, Han-Wook
    • Clinical and Experimental Pediatrics
    • /
    • v.59 no.sup1
    • /
    • pp.25-28
    • /
    • 2016
  • Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.

Predicting Factors of Developmental Delay in Infant and Early Children (일 지역 보건소 내원 영유아의 발달지연의심 예측요인)

  • Ju, Hyeon-Ok;Park, Yu-Kyung;Kim, Dong-Won
    • Child Health Nursing Research
    • /
    • v.19 no.1
    • /
    • pp.12-20
    • /
    • 2013
  • Purpose: The purpose of this study was to investigate factors associated with suspicious developmental delay in infants and early childhood. Methods: Participants were 133 infants, aged from birth to 6 years old and their mothers, who were being seen at 16 Public health centers in B city. Korean Denver II was used to test infant development. ${\chi}^2$-test, Fisher's exact test and multiple logistic regression were used with SPSS 19.0 to analyze data. Results: Of participant infants, 7.5% were below the 3rd percentile for the weight percentile, 8.4% is a weight curve that crosses more than 2 percentile lines on the growth charts after previous achievement, and 9.8% had suspicious developmental delay according to Korean Denver II. Further the predictive factors related to suspicious development delay in the children were decrease of weight percentile (Odds Ratio [OR]=6.69, Confidence Interval [CI])=1.22-36.45), low economic state (OR=6.26, CI=1.50-26.00), and development delay perceived by their mothers (OR=4.99, CI=1.24-20.06). Conclusion: It is necessary to build a government level system to follow management of development of infants and children from the time of birth. Especially, it is necessary to develop a program for children in low income families.

Assessment of children with developmental delay: Korean infant and child development test (KICDT) and Korean Bayley scale of infant development-II (K-BSID-II) (발달 지연아에서 한국형 영유아 발달 검사와 베일리 영유아 발달 검사의 비교 분석)

  • Kim, Ji-Hoon;Yum, Mi-Sun;Jeong, Soo-Jin;Ko, Tae-Sung
    • Clinical and Experimental Pediatrics
    • /
    • v.52 no.7
    • /
    • pp.772-777
    • /
    • 2009
  • Purpose : We aimed to compare the effectiveness of 2 developmental tests-Korean Infant and Child Development Test (KICDT) and Korean Bayley Scale of Infant Development-II (K-BSID-II)-in the assessment of children with developmental delay. Methods : Twenty-eight children with suspected developmental delay, who visited the Department of Pediatrics in Asan Medical Center from February 2007 to June 2008 were enrolled. They were examined using both KICDT and K-BSID-II. The results of the tests were compared on the basis of 2 parameters: age group of the children and detection of organic brain lesion on magnetic resonance imaging (MRI). The correlation between the results of the 2 tests was analyzed using SPSS. Further, intraclass correlation coefficient was calculated using SAS to examine consistency between the results of the 2 tests. Results : The mental developmental index of K-BSID-II showed significant correlation with every KICDT score (P<0.01). The psychomotor developmental index of K-BSID-II was also significantly correlated with every KICDT score except the fine motor score (P<0.01). The mental developmental index of K-BSID-II showed significant correlation [Editor20] with the KICDT gross motor, fine motor, and language scores (P<0.05). Further, there was significant correlation between the psychomotor developmental index of K-BSID-II and the KICDT gross motor score (P<0.05). Conclusion : There was significant [Editor21]correlation between the results of KICDT and K-BSID-II for infants and children with developmental delay. Although our results suggest that KICDT is useful in assessing developmental delay, further research would be needed to standardize this test.

A Comparisons of Characteristics of Infants Born Prematurely According to Results of Denver II Screening Test (추후 덴버발달스크리닝 결과에 따른 미숙아의 특성 비교)

  • Bang, Kyung-Sook
    • Child Health Nursing Research
    • /
    • v.12 no.3
    • /
    • pp.398-404
    • /
    • 2006
  • Purpose: To investigate the rate of questionable development in infants born prematurely and explore factors affecting developmental delays. Method: The participants were 46 infants born prematurely being seen in one of two urban health centers. A questionnaire and the HOME checklist were used to collect data, and the Korean Denver II developmental screening test was administered. Results: Of the participants 21.7% were classified as having questionable development. The only variable with a significant difference between the two groups was acceptance in the HOME checklist. Psychosocial factors such as mothers' burden, depression, family functioning, and social support were not significantly different between the two groups. Conclusion: An early developmental screening test for prematurely born infants is needed. Also, the childrearing environment was identified as a significant factor in infants' development. These findings suggest that HOME score might be useful for identifying infants at risk for developmental delays and interventions for these infants will probably be more effective if their mothers can provide a more appropriate social environment. Further studies are suggested with larger samples.

  • PDF

Delay of Gratification in Infancy : Effects of Infants' Temperament and Parenting

  • Rha Jong-Hay
    • International Journal of Human Ecology
    • /
    • v.1 no.1
    • /
    • pp.59-77
    • /
    • 2000
  • The purpose of this study was to extend our understanding of the developmental antecedents of delay of gratification in infancy. The first goal was to examine direct effects of one feature of an infants’ temperament and of positive and negative parenting assumed at age one on children’s delay of gratification six months later. The second goal of the study was to test the interactive effect of early infant temperament and parenting on children’s delay of gratification. It was hypothesized that 1) less negative infants at 12 months would delay gratification longer six months later, 2) children of parents who provided more positive and sensitive feedback would delay gratification longer than children with parents who were more negative and less sensitive, and 3) there would be differential prediction of parenting for children who scored high and low in negative emotionality as infants. Toward this end, 81 infants were observed interacting at one year of age with their mothers and fathers during laboratory assessments to obtain measures of parenting and infant negative emotionality. At 18 months of age, the child’s capacity to delay touching attractive objects was measured. The main effects of infant negative emotionality and of mothering on children’s delay of gratification were not detected at standard levels of significance. Differential effects of parenting on children’s delay of gratification for infants with low or high negative emotionality, too, were not detected. However, the anticipated effect of fathering on delay of gratification was found in some analyses, indicating that the more positive fathering children received, the longer they could delay gratification in the laboratory six months later.

  • PDF

Metabolic evaluation of children with global developmental delay

  • Eun, So-Hee;Hahn, Si Houn
    • Clinical and Experimental Pediatrics
    • /
    • v.58 no.4
    • /
    • pp.117-122
    • /
    • 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 GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.