• 한국운동역학회지
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• 제21권4호
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• pp.459-466
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• 2011

The purpose of this study was to analyze of obstacle gait using spatio-temporal and foot pressure variables in children with autism. Fifteen children with autism and fifteen age-matched controls participated in the study. Spatio-temporal and foot pressure variables was investigated using GAITRite pressure sensor system. Each footprint was divided into 12 equal trapezoids and after that the hindfoot, midfoot and forefoot analysis was developed. Independent t-test was applied to compare the gait variables between the groups. The results showed that the autism group were significantly decreased in velocity, cadence, cycle and swing time compared to the control group. The autism group were significantly increased in step width and toe out angle compared to the control group. The autism group were significantly increased at midfoot and forefoot of lateral part of footprint and forefoot of medial part of footprint in the peak time compared to the control group. The autism group were significantly increased at midfoot and hindfoot in $P^*t$, at midfoot in active area, and at hindfoot in peak pressure compared to the control group. In conclusion, the children with autism showed abnormal obstacle gait characteristics due to muscle hypotonia, muscle rigidity, akinesia, bradykinesia and postural control impairments.

• Clinical and Experimental Pediatrics
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• 제55권6호
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• pp.212-214
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• 2012

Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately one-third of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the anatomy of the oropharynx and airway, which make these patients susceptible to obstructive sleep apnea (OSA). In our case, pulmonary hypertension was caused, successively, by congenital heart defects (a large patent ductus arteriosus and arch hypoplasia) and obstructive sleep apnea during early infancy. The congenital heart defects were surgically corrected, but persistent pulmonary hypertension was identified 2 months after the operation. This pulmonary hypertension was due to OSA, and it was relieved by nasal continuous positive airway pressure. This case is the first report of pulmonary hypertension from OSA in a young infant with RTS.

• Journal of Genetic Medicine
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• 제4권2호
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• pp.196-199
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• 2007

발달 지연과 발열과 동반된 경련으로 내원한 12개월 된 남자 환아로 뚜렷하며, 높은 아치를 이룬 눈썹과 넓은 코, 아래를 향하고 있는 눈꺼풀 틈새, 높은 구개, 치아 발육 부전의 특징을 보이는 얼굴 모습을 가졌으며, 통통한 손과, 과신전되며 점점 가늘어지는 손가락, 관절의 움직임이 증가되어있는 특징을 보였다. 이러한 특징에 근거하여 Coffin-Lowry 증후군으로 진단하였으며, 이에 저자들은 Coffin-Lowry 증후군 1례를 경험하여 보고한다.

• Journal of Korean Neurosurgical Society
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• 제44권2호
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• pp.98-100
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• 2008

We report a very rare case of a rapidly calcified chronic epidural hematoma (EDH) in a neonate. A 26-day-old female infant was referred to us from a regional hospital because of drowsy mentality and a seizure attack. She was delivered through caesarian section because normal spontaneous vaginal delivery was prolonged and failed. At birth, mild scalp swelling was found on the right frontal area. Scalp swelling was spontaneously resolved and she was discharged without any problems. On the 25th day after her birth, the baby presented with drowsiness and hypotonia following a generalized tonic-clonic seizure. Magnetic resonance imaging (MRI) and a computed tomography (CT) scan revealed a chronic EDH that had a thick layer of calcification. A small burr-hole trephination was performed and a single silastic drainage catheter was inserted. After the operation, a total of 12 ml of liquefied hematoma was drained, and the patient's mentality improved from drowsiness to alertness. The patient was asymptomatic when discharged.

• Clinical and Experimental Pediatrics
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• 제57권7호
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• pp.333-336
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• 2014

Reports of constitutional ring chromosome 22, r(22) are rare. Individuals with r(22) present similar features as those with the 22q13 deletion syndrome. The instability in the ring chromosome contributes to the development of variable phenotypes. Central nervous system (CNS) atypical teratoid rhabdoid tumors (ATRTs) are rare, highly malignant tumors, primarily occurring in young children below 3 years of age. The majority of ATRT cases display genetic alterations of SMARCB1 (INI1/hSNF5 ), a tumor suppressor gene located on 22q11.2. The coexistence of a CNS ATRT in a child with a r(22) is rare. We present a case of a 4-month-old boy with 46,XY,r(22)(p13q13.3), generalized hypotonia and delayed development. High-resolution microarray analysis revealed a 3.5-Mb deletion at 22q13.31q13.33. At 11 months, the patient had an ATRT ($5.6cm{\times}5.0cm{\times}7.6cm$) in the cerebellar vermis, which was detected in the brain via magnetic resonance imaging.

• 대한물리치료과학회지
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• 제26권3호
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• pp.15-22
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• 2019

Background: The purpose of this study is to explore the effect of the functions of GMFM and ICF-CY on the activities and participation of ICF-CY sub-items. Design: Cross-sectional study. Method: This study compared and analyzed 95 children with cerebral palsy [type of CP: spasticity 86 (90.5%), hypotonia 4 (4.2%), mixed 5 (5.3%); type of palsy: quadriplegia 13 (13.7%), diplegia 71 (74.7%), hemiplegia 11 (11.6%)] using sub-items of functions, activities and participation from GMFM and ICF-CY. Result: The results show that the activities and participation of ICF-CY (9 sub-items) have significant effect on the functions of GMFM and ICF-CY (8 sub-items) (p<0.05). Conclusion: It is intended to provide data to establish practical therapeutic goals and interventions for functions, activities and participation, which are sub-categories of ICF-CY in cerebral palsy.

• Clinical and Experimental Pediatrics
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• 제48권9호
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• pp.1016-1018
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• 2005

Young Simpson 증후군은 선천성 갑상선 기능 저하, 특이한 얼굴 생김새, 정신 지체, 심한 성장 지연, 근력 저하, 선천성 심장 기형을 특징으로 하는 드문 질환으로 국내에서는 보고된 적이 한 번도 없는 질환이다. 저자들은 Young Simpson 증후군인 4살 여아를 경험하였기에 문헌 고찰과 함께 국내 최초로 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제54권2호
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• pp.55-63
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• 2011

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2-q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH) treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

• Clinical and Experimental Pediatrics
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• 제54권2호
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• pp.51-54
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• 2011

Vitamin D is present in two forms, ergocalciferol (vitamin $D_2$) produced by plants and cholecalciferol (vitamin $D_3$) produced by animal tissues or by the action of ultraviolet light on 7-dehydrocholesterol in human skin. Both forms of vitamin D are biologically inactive pro-hormones that must undergo sequential hydroxylations in the liver and the kidney before they can bind to and activate the vitamin D receptor. The hormonally active form of vitamin D, 1,25-dihydroxyvitamin D3 $[1,25(OH)_2D]$, plays an essential role in calcium and phosphate metabolism, bone growth, and cellular differentiation. Renal synthesis of $1,25(OH)_2D$ from its endogenous precursor, 25-hydroxyvitamin D (25OHD), is the rate-limiting and is catalyzed by the $1{\alpha}$-hydroxylase. Vitamin D dependent rickets type I (VDDR-I), also referred to as vitamin D $1{\alpha}$-hydroxylase deficiency or pseudovitamin D deficiency rickets, is an autosomal recessive disorder characterized clinically by hypotonia, muscle weakness, growth failure, hypocalcemic seizures in early infancy, and radiographic findings of rickets. Characteristic laboratory features are hypocalcemia, increased serum concentrations of parathyroid hormone (PTH), and low or undetectable serum concentrations of $1,25(OH)_2D$ despite normal or increased concentrations of 25OHD. Recent advances have showed in the cloning of the human $1{\alpha}$-hydroxylase and revealed mutations in its gene that cause VDDR-I. This review presents the biology of vitamin D, and $1{\alpha}$-hydroxylase mutations with clinical findings.

• Clinical and Experimental Pediatrics
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• 제51권4호
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• pp.435-438
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• 2008

Cerebro-Oculo-Facio-Skeletal (COFS) syndrome은 뇌, 안면, 안구 및 사지의 기형을 특징으로 하는 상염색체 열성 유전 질환이다. COFS 증후군은 DNA-repair gene의 돌연변이로 인한 뇌와 척수의 퇴행성 질환으로 여겨지며, 대뇌, 안구, 안면 및 사지의 복합 기형을 보인다. 국내에서는 신생아기에 진단되어 생후 1개월에 사망한 1례만이 보고 되어 있다. 저자들은 뇌, 안면, 안구, 그리고 사지의 복합 기형을 보여 COFS 증후군으로 진단된 환아를 경험하였으며, 이를 문헌 고찰과 함께 보고한다.