PURPOSE: The objectives were to examine following 2 questions related to cognitive profile for the children with Williams syndrome (WS); 1) Is there a significant advantage for verbal IQ over performance IQ in WS?; 2) Is there selective impairment in visuospatial ability in the children with WS? MATERIALS AND METHODS: Five children with WS with the age of 90.86+/-20.73 months were compared with 12 children with Prader-Willi syndrome (PWS) or Down syndrome (DS) with comparable age and IQ. RESULTS: All 5 children with WS showed intellectual disability whose mean scaled scores were 15.71+/-9.27 in verbal subtests and 14.29+/-7.50 in performance subtests, which did not show significant difference. There was no significant difference in the total sum of scaled scores of verbal subtests among WS, PWS and DS. There was no selective impairment in subtests which represented visuospatial tasks for the children with WS. However, the scaled score of object assembly was significantly lower in WS (2.29+/-0.95) compared to that of PWS (4.75+/-2.77; P<0.05). CONCLUSION: The general notion that the children with WS would be relatively strong in verbal function when compared with their overall cognitive function was not observed in this study. The verbal function of the children with WS was not better when compared to the children with DS or PWS. There was no selective impairment of visuospatial function in the children with WS at this age. However, the visuospatial function was significantly low in the children with WS only when compared to the children with PWS.
Child ; Down Syndrome ; Humans ; Imidazoles ; Intellectual Disability ; Nitro Compounds ; Prader-Willi Syndrome ; Williams Syndrome

No abstract available.
Intellectual Disability ; Rubinstein-Taybi Syndrome*

Mental retardation is a disability characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and adaptive skills, which originates before the age of 18. The prevalence of mental retardation among elementary school children in Korea is estimated as 9~12/1,000. In most cases of mental retardation, the interplay of genetic and environmental influences remains poorly understood. However, recent advances in molecular genetic techniques have enabled us to understand more about the molecular basis of several genetic syndromes associated with mental retardation. This article presents a review of three common genetic conditions causing mental retardation-Down syndrome, fragile X syndrome, and Prader-Willi syndrome-with the summary of the effectiveness of early intervention for the children with mental retardation.
Adaptation, Psychological ; Child ; Down Syndrome ; Early Intervention (Education) ; Fragile X Syndrome ; Humans ; Intellectual Disability* ; Korea ; Molecular Biology ; Prader-Willi Syndrome ; Prevalence

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 conducted a multicenter prospective study in Korean patients diagnosed as having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), and multiple congenital anomalies (MCA). METHODS: We performed both CMA and G-banding cytogenetics as the first-tier tests in 617 patients. To determine whether the CMA results directly influenced treatment recommendations, the referring clinicians were asked to complete a 39-item questionnaire for each patient separately after receiving the CMA results. RESULTS: A total of 122 patients (19.8%) had abnormal CMA results, with either pathogenic variants (N=65) or variants of possible significance (VPS, N=57). Thirty-five well-known diseases were detected: 16p11.2 microdeletion syndrome was the most common, followed by Prader-Willi syndrome, 15q11-q13 duplication, Down syndrome, and Duchenne muscular dystrophy. Variants of unknown significance (VUS) were discovered in 51 patients (8.3%). VUS of genes putatively associated with developmental disorders were found in five patients: IMMP2L deletion, PTCH1 duplication, and ATRNL1 deletion. CMA results influenced clinical management, such as imaging studies, specialist referral, and laboratory testing in 71.4% of patients overall, and in 86.0%, 83.3%, 75.0%, and 67.3% of patients with VPS, pathogenic variants, VUS, and benign variants, respectively. CONCLUSIONS: Clinical application of CMA as a first-tier test improves diagnostic yields and the quality of clinical management in patients with DD/ID, ASD, and MCA.
Autism Spectrum Disorder ; Autistic Disorder ; Cytogenetics ; Diagnostic Tests, Routine ; Down Syndrome ; Humans ; Intellectual Disability ; Korea ; Microarray Analysis ; Muscular Dystrophy, Duchenne ; Prader-Willi Syndrome ; Prospective Studies ; Referral and Consultation ; Specialization

Prader-Willi syndrome is characterized by such as infantile hypotonia, mental retardation hyperphagia with obesity and hypogonadism. We experienced one case of so called Prader-Willi syndrome associated with hypogonadotrophic hypogonadism, hypomentia, hyperphagia with obesity and cryptochism. Testicular biopsy revealed predominant Sertoli cells, decreased spermatogonia and edematous stromal tissue.
Biopsy ; Hyperphagia ; Hypogonadism ; Intellectual Disability ; Muscle Hypotonia ; Obesity ; Prader-Willi Syndrome* ; Sertoli Cells ; Spermatogonia

Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is caused by deletion of chromosome 11p13, including the Wilms' tumor (WT1) and aniridia gene (PAX6) loci. Here, we report the first case of WAGR syndrome in Korea; the patient was a 2-year-old girl with bilateral aniridia from birth who presented with abdominal distention and mental retardation. Cytogenetically, she had deletion of chromosome 11p11.2-13. Bilateral Wilms' tumors were successfully treated by chemotherapy and surgery. She has been tumor-free for 19 months off chemotherapy with preserved renal function.
Aniridia ; Humans ; Intellectual Disability ; Korea ; Parturition ; Preschool Child ; WAGR Syndrome ; Wilms Tumor

Prader-Willi syndrome is characterized by infantile hypotonia, mental retardation, hyperhagia, hypogonadism and obesity. Approximately 60% of all PLW syndrome show an interstitial deletion of chromosome 15, 37% have apparently normal chromosome, and 3.6% have a variety of other abnormalities involving chromosome 15. Diabetes mellitus has been considered a component of PLW syndrome and the incidence is about 7%. We experienced a 17-year-old female who revealed mental retardation, hypogonadism, obesity, and non-insulin dependent type DM, compatible with Prader-Willi syndrome.
Adolescent ; Chromosomes, Human, Pair 15 ; Diabetes Mellitus* ; Female ; Humans ; Hypogonadism ; Incidence ; Intellectual Disability ; Muscle Hypotonia ; Obesity ; Prader-Willi Syndrome*

Prader-Willi syndrome (PWS) is a rare genetic disease caused by a deletion or disruption of genes in chromosome 15. Commonly associated characteristics of this disorder include obesity, mental retardation, short stature, and hypogonadotropic hypogonadism. A 3-year-old-boy who initially presented hypoplastic scotum, small penis and bilateral cryptorchism was confirmed the diagnosis of PWS using of with genetic tests. Finally, he was taken bilateral orchiopexy.
Chromosomes, Human, Pair 15 ; Cryptorchidism ; Genetic Testing ; Hypogonadism ; Intellectual Disability ; Male ; Obesity ; Orchiopexy ; Penis ; Prader-Willi Syndrome

Prader-Willi syndrome is brought by chromosomal abnormality and is characterized by mental retardation, morbid obesity, infantile hypotonia, hypogenitalism. While feeding problems arise during infancy due to hypotonia, it is followed by hyperphasia that is prone to morbid obesity leading to cardiovascular problems, diabetes, and infectious diseases. And sleep apnea, scoliosis make anesthetic management difficult. We report a case of general anesthetic management during strabismus surgery in a child with Prader-Willi syndrome and its possible considerations.
Child ; Chromosome Aberrations ; Communicable Diseases ; Humans ; Intellectual Disability ; Muscle Hypotonia ; Obesity, Morbid ; Prader-Willi Syndrome* ; Scoliosis ; Sleep Apnea Syndromes ; Strabismus

Prader-Willi syndrome is characterized by infantile hypotonia, childhood-onset obesity, short stature, mental retardation, hyperphagia, hypogonadism. After infantile hypotonia phase, patient is prone to morbid obesity due to hyperphagia. Complications associated with morbid obesity are recognized as the main risk factors for death the lifespan of patients with Prader-Willi syndrome. We experienced desaturation and bronchospasm during arteriovenous fistula surgery in an obese adult with Prader-Willi syndrome.
Adult ; Arteriovenous Fistula ; Bronchial Spasm ; Humans ; Hyperphagia ; Hypogonadism ; Intellectual Disability ; Muscle Hypotonia ; Obesity ; Obesity, Morbid ; Prader-Willi Syndrome ; Risk Factors