Stickler syndrome is a genetic disorder characterized by ophthalmologic, craniofacial, audiologic, and joint problems. In this report, we describe a 10-year-old boy presenting with a flat face, high myopia, retinal detachment, arthropathy, short stature, and mental retardation. Sequencing of the COL2A1 gene revealed a novel mutation, c.3055C > T (p.Pro1019Ser), consistent with a diagnosis of Type 1 Stickler Syndrome.
Child ; Diagnosis ; Humans ; Intellectual Disability ; Joints ; Male ; Myopia ; Retinal Detachment

Two cases of Sturge-Weber disease in a 10 years old female and a 7 years old male were prese-nted. The diagnosis was established by charactristic features of Sturge-Weber disease including facial port-wine nevus, convulsion, typical ???ailread track pattern intracranial calcifications, some degree of mental retardation and hemiplegia. A brief review of related literature was made.
Child ; Diagnosis ; Female ; Hemiplegia ; Humans ; Intellectual Disability ; Male ; Nevus ; Seizures

A case of Sturge-Weber disease in an 8 year old male was presented. The diagnosis was established by characteristic features of Sturge-Weber disease including facial portwine nevus, convulsion, right hemiplegia, intracranial calcification and mental retardation. A brief review of related literature was made.
Child ; Diagnosis ; Hemiplegia ; Humans ; Intellectual Disability ; Male ; Nevus ; Seizures

More school children were referred for learning difficutly (LD), especially after the introduction of LINUS sccreening programme by Ministry of Education Malaysia. To study the clinical diagnosis and non-verbal ability of primary-one school children with LD after paediatric assessment, as well as associated behavioural issues and socio-economincal background. Assessment findings by Paediatricians and Naglieri Non-Verbal Ability Test® (NNAT®) results of all primary-one school children referred in year 2010 with LD were studied retrospectively. Ninety-three children were included (62.4% male), and 72.0% of them failed the LINUS screening programme. The commonest diagnoses were Borderline Intellectual Disability (ID, 37.6%) and Mild ID (19.4%). Other diagnoses included Attention Deficit Hyperactive Disorder (ADHD, 11.8%), Specific Learning Disability (SLD, 10.8%), Autistic Spectrum Disorder (n = 5) and Severe Language Disorder (n = 3). Mean NNAT scores were 84.6 ± 11.8 (n = 85), of which 9.4% children scored less than 70 (<2nd percentile), while 63.7% scored between 71 and 90 (3rd-24th percentile). Twenty-three children(27.1%) scored 90 - 110 (25th-75th percentile) and 111-119 (76th-90th percentile). More than two-thirds of the parents never attended school, or only received education up to Form 3. Nearly 80% of mothers were housewife and 78.7% of fathers were labour or semi-skilled workers. A significant numbers of children with ADHD, Borderline ID, Mild ID and Severe Language Disorder / SLD had significant or borderline internalizing and/or externalizing behaviours.Majority of primary-one school children referred for LD do not have intellectual disability. Their clinical diagnosis and non-verbal ability were very variable. A significant number of them have poor socio-economical background and associated behavioural problems. A more realistic education system and targeted program should be offered.
Learning Disorders ; Attention Deficit Disorder with Hyperactivity ; Intellectual Disability ; diagnosis

Child ; Developmental Disabilities ; diagnosis ; Humans ; Intellectual Disability ; diagnosis ; Male ; Neuronal Ceroid-Lipofuscinoses ; diagnosis

Mental retardation(MR) is one of the most common developmental disabilities, which is characterized by deficits in intellectual and adaptive functions. Most children with MR have cognitive limitation in the mild range. With respect to the etiology, it is believed that genetic and environmental factors are interrelated and show variable pictures. Most children with MR present with speech and language delay during the early years. The diagnosis can be made by clinical features and neuropsychological tests of intelligence and adaptive functioning. The treatment is limited, but many associated problems are amenable to multidisciplinary interventions. The article will review the recent advances in the management of MR and other neurodevelopmental disorders in children.
Child ; Developmental Disabilities ; Diagnosis ; Humans ; Intellectual Disability* ; Intelligence ; Language Development Disorders ; Neuropsychological Tests

To study whether it is helped or not to medical diagnosis for children with normal and abnormal chromosomes from mental retardations, author performed and analyzed patterns of fingerprints, palmar prints creases on 99 mentally retarded children with normal chromosome and 16 mentally retarded children with Down syndrome and compared with healthy control group. In patterns of fingerprint, high frequency of ulnar loop showed significantly on fifth finger in mentally retarded children, while dominant whorl showed on first and fourth fingers in control group. High frequency of finger ridge count was appeared in Down syndrome, mentally retarded with normal chromosome (MRNC) and control group in order. Total ridge count TRC) was significantly decreased in Down syndrome, MRNC compared with control group. Total triradius count was significantly decreased in Down syndrome, however, no discrimination between control group and MRNC was found. a -b ridge count was not different among the groups. atd angle was wider in Down syndrome than in control group and MRNC. Interdigital pattern was high on ulnar loop of I3 in Down syndrome, in contrast, on ulnar loop of I4 in control group. In conclusion, detailed analysis of dermatoglyphics is able to contribute to study medical diagnosis on children with mentally retarded through above data.
Child ; Dermatoglyphics* ; Diagnosis ; Discrimination (Psychology) ; Down Syndrome ; Fingers ; Humans ; Intellectual Disability* ; Mentally Disabled Persons

OBJECTIVES: This study was designed to assess the present conditions of the mental retardation in a rural area by identifying the prevalence, socioeconomic characteristics and combined diseases of the subjects with mental retardation. METHODS: For this survey, four regions of a rural area with total population of 17,235 persons were chosen. The surveys were divided into 2 steps. After Key Informant Research(KIR) at first survey, one psychiatric specialist, two psychiatric residents and five clinical psychologists interviewed the high risk group who had been selected in KIR. By this two-step process, final diagnosis and degree of severity were confirmed. Diagnostic criteria of Mental Retardation by DSM-IV(Diagnostic and Statistical Manual of Mental Disorders-IV), K-WAIS, Social Maturation Scale were used as diagnositc tools. RESULTS: Prevalence of Mental Retardation in survey areas was 0.42%. The prevalences in male and female were 0.37% and 0.47%, respectively, which were of no significant statistical difference. The relative ratio of each degree of mental retardation-mild, moderate, severe and profound mental retardation-was 33:47:18:3 respectively. The prevalence of moderate mental retardation was higher than that of any other degrees. By age groups, the prevalence in twenties and thirties was 0.69%, which was the highest of all age groups. The prevalence in forties and over was 0.35%, which was the lower than that of twenties and thirties(x2-18.64, p=0.00002). CONCLUSIONS: Prevalence of mental retardation in survey areas was 0.42%, which was higher than any other previous studies in Korea. The prevalence of mild mental retardation was relatively lower than that of other previous studies, which means that the key informants may not have detected the subjects with mild mental retardations who were relatively socially adaptive in rural areas, because they might have focused on the ability of social adaptation as an important feature in detecting the mental retardations. The prevalence of moderate mental retardation was 0.20%, higher than any other groups, which resulted from low rate of failure in the detection of the moderate mental retardations because of their severe deficits in social adaptation and from the higher prevalence than severe and profound mental retardation in reality. The prevalence of severe and profound mental retardation was low rate because they used to be short-lived due to combined medical illnesses and congenital anomalies. The persons with mental reatardation were in low socioeconomic status and had poor supporting systems.
Diagnosis ; Epidemiologic Studies* ; Female ; Humans ; Intellectual Disability* ; Korea ; Male ; Prevalence ; Psychology ; Social Class ; Specialization

PURPOSE: Neonatal screening for inherited metabolic disease is aimed at identifying affected infants early, thus permitting medical intervention to prevent or minimize the effect of the disease. However, organic aciduria, most of which causes severe disease and mental retardation, is not yet screened routinely because of the difficulty of tests, sample collection, and expenditure of time and financial resources. This study was designed to develop a screening method for the detection of multiple organic aciduria and neuroblastoma, using dried urine filter paper. METHODS: The standard markers used for screening of organic aciduria were placed on the filter paper and analysed with the modified organic acid analysis method. The extraction efficiency and stability of standard markers were tested for the purpose of adequacy as screening markers, and the method described herein was evaluated by analyzing filter paper samples obtained from both normal newborns and patients with known organic aciduria. RESULTS: The standard markers in the filter paper left in the room temperature over a period of 5 days were still stable without significant degradation. The level of specific organic acids obtained from known organic aciduria patients were easily detectable-enough to make the diagnosis. CONCLUSION: The filter papers soaked with urines obtained from newborns or patients with suspicious metabolic diseases are adequate for screening of organic acidurias and neuroblastoma. Sample delivery to the laboratory can be handled more easily with this method and even newborn screening could be applied in the future.
Diagnosis ; Health Expenditures ; Humans ; Infant ; Infant, Newborn* ; Intellectual Disability ; Mass Screening* ; Metabolic Diseases ; Neonatal Screening ; Neuroblastoma

Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. Whole exome sequencing has uncovered the genetic basis of KS. Prior to 2013, there was no molecular genetic information about KS in Korean patients. More recently, direct Sanger sequencing and exome sequencing revealed KMT2D variants in 11 Korean patients and a KDM6A variant in one Korean patient. The high detection rate of KMT2D and KDM6A mutations (92.3%) is expected owing to the strict criteria used to establish a clinical diagnosis. Increased awareness and understanding of KS among clinicians is important for diagnosis and management of KS and for primary care of KS patients. Because mutation detection rates rely on the accuracy of the clinical diagnosis and the inclusion or exclusion of atypical cases, recognition of KS will facilitate the identification of novel mutations. A brief review of KS is provided, highlighting the clinical and genetic characteristics of patients with KS.
Congenital Abnormalities ; Diagnosis ; Exome ; Humans ; Intellectual Disability ; Molecular Biology ; Primary Health Care