• Genes and Genomics
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• v.40 no.12
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• pp.1339-1349
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• 2018

Cerebral palsy (CP) is a non-progressive neurological disease, of which susceptibility is linked to genetic and environmental risk factors. More and more studies have shown that CP might be caused by multiple genetic factors, similar to other neurodevelopmental disorders. Due to the high genetic heterogeneity of CP, we focused on investigating related molecular pathways. Ten children with CP were collected for whole-exome sequencing by next-generation sequencing (NGS) technology. Customized processes were used to identify potential pathogenic pathways and variants. Three pathways (axon guidance, transmission across chemical synapses, protein-protein interactions at synapses) with twenty-three genes were identified to be highly correlated with CP. This study showed that the three pathways associated with CP might be the molecular mechanism of pathogenesis. These findings could provide useful clues for developing pathway-based pharmacotherapies. Further studies are required to confirm potential roles for these pathways in the pathogenesis of CP.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.10 no.1
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• pp.26-30
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• 2014

Prader-Willi syndrome (PWS) is a rare neurodevelopmental disease caused by abnormality of chromosome 15q11-13. The estimated prevalence of PWS is 1/10,000-30,000. Most common features of this disease are feeding problems characterized by poor sucking habit related with neonatal or infantile hypotonia and obesity due to early childhood hyperphagia involved with lack of satiety. In the orodental findings, enamel hypoplasia, rampant caries, delayed eruption, poor oral hygiene, hypodontia, supernumerary teeth, increased tooth wear, decreased salivary flow and change in saliva composition were reported. This case report describes the dental treatment of 3-year-9-months-old male patient with PWS. Periodic check-ups and conservative treatments were followed, however, rapid dental caries progression caused by estimating hyposalivation was observed. Because of lack of patient cooperation, dental procedures were performed under general anesthesia.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.16 no.2
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• pp.173-182
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• 2005

This review is a clinical and research update of recent literature related to childhood onset schizophrenia (with an onset of psychosis by age 12). Childhood onset schizophrenia(COS) is a rare disorder, but that may represent a more homogeneous patient population in which to search for risk or etiologic factors of schizophrenia. These overview data show that COS shares the same clinical and neurobiological features as later onset forms of the disorder. Compared with later onset schizophrenia, however, this subgroup of patients appear to have more severe premorbid neurodevelopmental abnormalities, more cytogenic abnormalies, poor outcome, and potentially greater family histories of schizophrenia and associated spectrum disorders. Future studies of this subgroup may provide important clues as to the genetic basis for schizophrenia and how gene products influence certain feature of the disease, such as age of onset and mode of inheritance.

• Korean Journal of Biological Psychiatry
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• v.4 no.1
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• pp.74-83
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• 1997

With increasing tendency of incidence and interest for the late onset schzophrenia, concerns about whether this disorder is etiologically or phenomenogically distinctive entity or not have increased also. To clarify the disease entity of the late onset schzophrenia and the role of structural brain changes in its etiology, authors tried to prove following hypothesis : Are there any evidences of structural brain changes in the lateonset schizophrenia? ; If present, are they not different from those of the early-onset schizophrenia or progressive schizophrenia? ; And are they not different from those of senile dementia? Subjects were 6 patients with the late-onset schizophrenia, 6 patients with the early-onset schizophrenia, 6 patients with progressive schizophrenia, 6 patients with Alzheimer's dementia, and 6 controls. We measured regions of interest of the magnetic resonance images by computer assisted planimetry using the AutoCad and digitizer. Our study results may suggest that the third ventricular enlargement and a reversal of normal difference between left and right temporal lobe and left-right difference in posterior lateral ventricle are common brain pathology for all types of schizophrenia including the late onset schzophrenia. And also suggest that brain structural changes of the late onset schizophrenia are related with neurodevelopmental abnormality rather than degenerative change.

• Korean Journal of Biological Psychiatry
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• v.26 no.1
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• pp.14-21
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• 2019

Objectives Thyroid hormone deficiency during the neurodevelopmental period can impair brain development and induce psychiatric symptoms. This study examined the association between thyroid dysfunction and the severity of symptoms in schizophrenia patients, and the treatment response of patients with schizophrenia. Methods Three hundred thirty-eight schizophrenia patients, with no prior history of thyroid disease or taking medication associated with it, were studied. We assessed the blood thyroid hormone level, the Brief Psychiatric Rating Scale (BPRS) scores on the day of admission and discharge, admission period, dose of administered antipsychotics, and the number of antipsychotic combinations. The collected data were subsequently analyzed using the Kruskal-Wallis test and Pearson's chi-square test. Results The percentage of schizophrenia patients who presented with abnormal thyroid hormone level was 24.6%. High total triiodothyronine (TT3) (p = 0.003), low TT3 (p = 0.001), and high free thyroxine (fT4) (p < 0.001) groups showed a higher BPRS score on admission than did the normal thyroid hormone group, while thyroid stimulating hormone (TSH) levels were not significantly correlated with the severity of symptoms. Furthermore, thyroid hormone was not associated with the treatment response assessed by the rate of BPRS score reduction, admission days, use of clozapine, and dose of antipsychotics. Conclusions The TT3 and fT4 hormone levels were significantly associated with the severity of symptoms in schizophrenia patients. These relations suggested that thyroid dysfunction may be associated with the severity of schizophrenia. And hence, further analysis of the results of the thyroid function test, which is commonly used in cases of psychiatric admission, is required.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.13 no.2
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• pp.80-85
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• 2017

Angelman syndrome is a rare disorder caused by deletion or inactivation of genes on the maternally inherited chromosome 15. This neurodevelopmental disorder is characterized by developmental and intellectual delay, speech impairment, sleep disturbance, seizures, motor dysfunction, and frequent laughing or smiling. Orofacial characteristics include a prominent mandible, large mouth, prominent cheeks, a tendency to rest the tongue between the dental arches, excessive drooling, and excessive chewing behavior. Patients with this syndrome usually require general anesthesia even in a simple operation, because of risk of perioperative seizure during dental procedure. This is a case report about dental treatment of a 3-year-old female patient with Angelman syndrome under general anesthesia. This case suggests that the dental treatment under general anesthesia can be considered a safe component for the uncooperative, delayed developmental patients with underlying disease. Also, periodic dental exam appointment should be made to provide the patients with preventive treatments and to make them remain familiar with the dental environment.

• The Journal of Korean Academy of Sensory Integration
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• v.19 no.1
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• pp.39-53
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• 2021

Objective : The purpose of this study was to systematically review dysphagia rehabilitation treatment for children with feeding disorders. Methods : The articles evaluated in this study were collected from the PubMed, Medline Complete, and CINAHL databases and subsequently reviewed using the PRISMA flow chart and PICOS approach. A total of 13 papers were analyzed for study quality, disease groups, evaluation tools, interventions, and post-intervention effects. Results : Of the reviewed papers, six (46.15%) related to autism spectrum disorder (ASD) and seven (53.85%) to cerebral palsy (CP) with age ranges of between 2 and 8 years for the ASD studies and between 12 months and 18 years for CP. In evaluating the types of feeding disorder involved, the ASD group exhibited predominantly behavioral conditions while the CP subjects had a larger number of functional oral and swallowing issues. In terms of interventions, behavior modifications were used most frequently with ASD while oral-sensory motor, texture modifications, and electrical stimulation were applied at the same frequency with children with CP. All interventions were found to be effective. Conclusion : In this study, research into children with feeding disorders was reviewed according to condition, evaluation tool, and method of intervention. It is expected that this review can be used as basic data for developing a protocol that will allow clinicians to efficiently apply condition-specific interventions for eating disorders without resorting to trial and error.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.31-37
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• 2017

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle that causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed-onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed-onset cases are predominantly adolescents or adults, and infantile delayed-onset cases are rare. Severe hyperammonemia in the neonatal period leads to serious brain damage, coma, and death if not treated promptly. Therefore, early diagnosis and acute treatment are crucial. Despite the improvement of treatments, including continuous hemodialysis, ammonia-lowering agents, and a low-protein diet, the overall outcome of severe forms of hyperammonemia often remains disappointing. As the liver is the only organ in which ammonia is converted into urea, liver transplantation has been considered as an elegant and radical alternative therapy to classical dietary and medical therapies. However, liver transplantation has many disadvantages, such as a considerable risk for technical complications and perioperative metabolic derangement, especially in neonates. Additionally, there is a lack of suitable donor organs in most countries. According to recent studies, liver cell transplantation is a therapeutic option and serves as a bridge to liver transplantation. Here, we report a Korean CPS1D patient with novel mutations in CPS1 who was treated by liver cell transplantation after being diagnosed in the neonatal period and showed a good neurodevelopmental outcome at the last follow-up at six months of age.

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1263-1272
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• 2002

Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. Methods : Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. Results : The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. Conclusion : MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.