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Altered Gene Expression Profiles in Neural Stem Cells Derived from Duchenne Muscular Dystrophy Patients with Intellectual Disability

Koo J, Park S, Sung SE, Lee J, Kim DS, Lee J, Lee JR, Kim NS, Lee DY

  • KMID: 2519888
  • Exp Neurobiol.
  • 2021 Aug;30(4):263-274.
  • doi: 10.5607/en21008
Intellectual disability (ID) is a neurodevelopmental disorder defined by below-average intelligence (intelligence quotient of
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Clinical and Genetic Characteristics of Young Children with Fragile X Syndrome

Lee SH, Jeong JE, Jang YY, Kim JK

Purpose: This study analyzed the clinical and genetic characteristics of young children with fragile X syndrome (FXS) and evaluated the significance of FXS genetic (FX) testing for children with global...
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Cohen–Gibson syndrome in a family: The first familial case report

Kang YJ, Kim YO

Cohen–Gibson syndrome (CGS) was first reported by Cohen et al., who identified the mutation of the gene encoding the embryonic ectoderm development (EED) in a patient with phenotypes similar to...
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Case report of cerebral creatine deficiency syndrome with novel mutation of SLC6A8 gene in a male child in Bangladesh

Rahman MM, Fatema K

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of...
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Clinical Characteristics of Sex Offenders with Pedophilia

Moon JY, Lim KO, Cho S, Jang S, Cha SM, Han S

Objectives This study compared the demographic and clinical characteristics, including blood testosterone level and intellectual capacity, between pedophilia and other types of paraphilia. Methods The medical records of 115 subjects with...
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Effects of Slime Program on Hand Function and Problem Behavior of Adults with Intellectual Disabilities

Jang WH, Kim SH, No SY, Moon JY, Lee EB, Jeon SH

Purpose: This study examined the effects of training using the slime on the hand function and problem behavior in adults with intellectual disabilities. Methods: Five adults with intellectual disabilities who were...
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Various Psychiatric Manifestation in DiGeorge Syndrome (22q11.2 Deletion Syndrome): A Case Report

Kim G, Moon E, Park JM, Lee BD, Lee YM, Jeong HJ, Kim SY, Lee K, Suh H

  • KMID: 2505681
  • Clin Psychopharmacol Neurosci.
  • 2020 Aug;18(3):458-462.
  • doi: esmun@hanmail.net
This case report aimed to describe various psychiatric manifestation and treatment course in a patient with DiGeorge syndrome. Psychiatric symptoms and treatment course in a female patient with DiGeorge syndrome...
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Effect of a Multicomponent Intervention Program on Community-Dwelling People With Intellectual Disabilities

Kim YS, Moon JH, Hong BK, Ho SH

Objective To investigate the effectiveness of a novel and complex intervention in community-dwelling people with intellectual disabilities. Methods Forty-three participants completed the experiment. The subjects were randomly assigned the experimental (n=33)...
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Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics

Lee WW, Choi JM, Lee CG

The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa...
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Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability

Han JY, Lee IG

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...
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The Mini-Mental State Examination (MMSE) as a Cognitive Screening Tool in Duchenne Muscular Dystrophy

Nardes F, Araújo APd, Ribeiro MG, Bittar M, Gomes HF

cogniPurpose: Given that intellectual disability affects 15% to 63% of boys with Duchenne muscular dystrophy (DMD), it is relevant to evaluate if the Mini-Mental State Examination (MMSE) is a reliable test...
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A case with GRIN2A mutation and its non-neurological manifestations

Lee SY, Jung SY, Lee J

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several...
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Clinical Usefulness of the Korean Developmental Screening Test (K-DST) for Developmental Delays

Jang CH, Kim SW, Jeon HR, Jung DW, Cho HE, Kim J, Lee JW

OBJECTIVE: To evaluate the clinical usefulness of the Korean Developmental Screening Test (K-DST) via comparison with Korean Ages and Stages Questionnaire (K-ASQ) for the diagnosis of developmental delay in pediatric...
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Effects site concentrations of propofol using target-controlled infusion in dental treatment under deep sedation among different intellectual disability types

Salinas Salmeron KS, Kim HJ, Seo KS

BACKGROUND: We aimed to assess the dose needed to achieve the propofol effect-site concentration using target-controlled infusion in intellectually disabled patients and to detail the most effective method for achieving...
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Effects of Therapeutic Horseback Riding on Cognition and Language in Children With Autism Spectrum Disorder or Intellectual Disability: A Preliminary Study

Kwon S, Sung IY, Ko EJ, Kim HS

OBJECTIVE: To investigate if therapeutic horseback riding (THR) can improve language and cognitive function in children with autism spectrum disorder (ASD) or intellectual disability (ID). METHODS: We conducted a prospective case-control...
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Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)

Lee D, Jang JH, Lee CG

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It...
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What Else Is Needed in the Korean Government's Master Plan for People With Developmental Disabilities?

Lee JY, Yun J

On September 12, 2018, President Jae-In Moon announced the Comprehensive Plan for Lifelong Care for People with Developmental Disabilities, with representatives from the associated government branches (Ministry of Health and...
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Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea

Jang W, Kim Y, Han E, Park J, Chae H, Kwon A, Choi H, Kim J, Son JO, Lee SJ, Hong BY, Jang DH, Han JY, Lee JH, Kim SY, Lee IG, Sung IK, Moon Y, Kim M, Park JH

BACKGROUND: To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier clinical diagnostic test and to determine the impact of CMA results on patient clinical management, we...
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Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2

Kim YO, Lee YY, Kim MK, Woo YJ

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat–Wilson syndrome (MWS) typically present with facial gestalt, complex...
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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

Lee CG, Jang JH, Seo JY

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most...
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