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Diagnostic Evaluation and Rehabilitation in Children with Intellectual Disabilities

Kwon J

Intellectual disability is characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and adaptive skills, which begins before the age of 18....
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Dental Treatment for a Patient with Seizure History and Intellectual Disability under General Anesthesia: Case Report

Kong EK, Jung YJ, Baek K

Patients with seizures tend to demonstrate a poor oral condition and gingival hyperplasia due to some antiepileptic drugs. Although most patients attain good control of their seizures with anticonvulsant drugs,...
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Diagnostic approach for genetic causes of intellectual disability

Yim SY

Intellectual disability (ID) is the most common disability among people under the age of 20 years. In the absence of obvious non-genetic causes of ID, the majority of cases of...
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Dental treatment under general anesthesia in an intellectually disabled child with intellectually disabled parents

Han JH, Hyun HK, Kim YJ, Kim JW, Jang KT, Kim CC, Lee SH, Shin TJ

Children with an intellectual disability often demonstrate lack of cooperation during dental treatment and require behavioral management. A child with mild intellectual disability can be managed adequately using restraints and...
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General Practitioners' Perceptions on Clinical Management and Training Needs regarding the Healthcare of Community-Dwelling People with Intellectual Disability: A Preliminary Survey in Singapore

Sajith SG, Goh YL, Wee JM

BACKGROUND: Studies worldwide indicate that people with intellectual disability have high risks of physical and mental morbidities, and poor quality of health care. This study was aimed at determining general...
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Full mouth rehabilitation of an oligodontia patient with intellectual disability based on shortened dental arch concept: a case report

You JW, Heo SJ, Kim SK, Koak JY

Shortened dental arch (SDA) as a treatment goal is the concept that stable occlusion and enough masticatory force can be achieved by restoration to the second premolars when the situation...
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Full mouth rehabilitation of edentulous patient with intellectual disability using implants and monolithic zirconia

Jeong KW, Kim SH, Han JS, Yeo IS, Yoon HI

People with class I intellectual disability need lifelong assistance and protection from their surroundings due to impaired adaptive functioning. They have poor oral health and show higher prevalence of dental...
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Experience of People with Mentally Disabled for Work Drop-out

Kim MY, Byun EK

PURPOSE: The purpose of this study was to explore experience of people with mentally disability for work drop-out. METHODS: Participants were 10 persons with an intellectual disability. The Colaizzi's phenomenological method...
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Full mouth rehabilitation of the intellectually disabled patient with collapsed bite using partial removable dental prosthesis: a case report

Kim MJ, Yang HS, Park SW, Lim HP, Yun KD, Park C

Intellectual disability is an imperfect disorder in which mental development is permanently retarded and development of intellectual ability is inadequate. Having intellectual disabilities makes it difficult to handle their own...
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Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies

Lee SH, Song WJ

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay...
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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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Effects of Speech Therapy in Children with Specific Language Impairment and Mild Intellectual Disability

Kim SW, Shin JB, Bae MS, Chung HJ, Kim YK, Song JH

  • KMID: 2176946
  • J Korean Acad Rehabil Med.
  • 2011 Feb;35(1):48-54.
OBJECTIVE: To analyze the effects of speech therapy between children with specific language impairment (SLI) and mild intellectual disability (ID). METHOD: Fourteen children with SLI and thirteen children with mild ID...
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Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family

Kim YR, Park JB, Lee YJ, Hong MJ, Kim HT, Kim HJ

Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone...
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Psychological Assessment in Neurodevelopmental Disorders

Oh MY

Neurodevelopmental disorders are characterized by impaired development that causes adjustment problems. The spectrum of developmental impairment varies and includes intellectual disabilities, communication and social interaction challenges, and attention and executive...
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Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability

Lee JS, Hwang H, Kim SY, Kim KJ, Choi JS, Woo MJ, Choi YM, Jun JK, Lim BC, Chae JH

BACKGROUND: Chromosomal microarray (CMA) testing is a first-tier test for patients with developmental delay, autism, or congenital anomalies. It increases diagnostic yield for patients with developmental delay or intellectual disability....
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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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Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability

Kim HJ, Park CI, Lim JW, Lee GM, Cho E, Kim HJ

PURPOSE: The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed...
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A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

DoÄŸan OA, ÅžimÅŸek Kiper PO, Utine GE, AlikaÅŸifoÄŸlu M, BoduroÄŸlu K

Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is...
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Analysis of electroencephalogram-derived indexes for anesthetic depth monitoring in pediatric patients with intellectual disability undergoing dental surgery

Silva A, Amorim P, Felix L, Abelha F, Mourão J

BACKGROUND: Patients with intellectual disability (ID) often require general anesthesia during oral procedures. Anesthetic depth monitoring in these patients can be difficult due to their already altered mental state prior...
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Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription

Sweatt JD

  • KMID: 2154240
  • Exp Mol Med.
  • 2013 May;45(5):e21.
TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual...
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