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

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

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

Williams syndrome was first reported in 1961, it is characterized by distinct facial changes, growth deficiency, mental retardation, congenital heart defect (particularly the supravalvular aortic stenosis), associated at times with infantile hypercalcemia. The diagnosis of this disease relied on phenotype, after recent acknowledgement of its genetic basis on the 7th chromosomal locus q11.23 involving elastin gene on the PCR. Recently, commercial probe of elastin gene for FISH was supplied and diagnosed this disease easier. Using PCR has some benefits concerning whether the origin of the genetic defect is maternal or paternal. The diagnosis of this disease is difficult due to low sensitivity, below 50%. But FISH is widely used because it is faster with high positive predictibility. We report Williams syndrome diagnosed by FISH with a brief review and related literatures.
Diagnosis ; Elastin ; Heart Defects, Congenital ; Hypercalcemia ; Intellectual Disability ; Phenotype ; Polymerase Chain Reaction ; Williams Syndrome*

A case of the tuberous sclerosis, 14-years old boy, was observed. In his father and sister, the cerebral tubers were noted by brain computerized tomography. This disease has been reported occasionally in dermatologic and psychiatric department because of adenoma sebaceum, mental retardation and epilepsy respectively, but it has not been reported at neurosurgical department in Korea. The histopathology of the brain lesion showed atypical cell(tuberous sclerosis cell), gliosis and nonspecific calcification which confirmed the diagnosis of tuberous sclerosis.
Adolescent ; Brain ; Diagnosis ; Epilepsy ; Fathers ; Gliosis ; Humans ; Intellectual Disability ; Korea ; Male ; Sclerosis ; Siblings ; Tuberous Sclerosis*

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

The fragile X syndrome is a common X-linked mental retardation and autism, affecting females as well as males. The fragile site X chromosomes were studied in a series of 153 mentally retarded boys of unknown etiology to determine the frequency of fragile X syndrome, and to assess the feasibility of making a clinical diagnosis of the fragile X syndrome in young boys before cytogenetic results were known. The 10 boys (6.4%) were positive for fra (X) (q27). The phenotype of fra (X) (q27) positive patients were typical except one who also had sex chromosomal mosaicism. There were three pairs of siblings among the fra (X) (q27) positive patients. Frequency of expression of the fragile site was in 10 to 47 per cent of cells. In addition, 19 boys showed a previously unsuspected chromosomal abnormality. The frequency of the fragile X syndrome in the present study is not significantly different from those in Caucasians and Japanese population. The fragile X syndrome can be recognized by noting key aspects of family history as well as the clinical features in mentally retarded boys.
Child ; Child, Preschool ; Fragile X Syndrome/diagnosis/epidemiology/*genetics ; Humans ; Intellectual Disability/*genetics ; Karyotyping ; Male

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