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

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

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

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

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

Rett syndrome is progressive neurodegenerative disorder in female patients, characterized by autistic behavior, mental retardation, loss of purposeful hand skills, stereotypic hand movement, breathing dysfunction, severely impaired language, ataxia, and seizure. The diagnosis of Rett syndrome is based on its characteristic clinical manifestation and course. The electroencephalographic (EEG) findings of Rett syndrome are nonspecific, but a progressive deterioration in the EEG, characterized by a slowing of background activity and spike sharp wave discharges, may be observed. We experienced one case of Rett syndrome in a 5 year old girl having mental retardation, loss of purposeful hand skills, stereotypic hand movements (clapping, washing, hand-to-mouth), breathing dysfunction (hyperventilation/apnea). Her EEG findings on Video-EEG monitoring are excessive slowing waves during awake state and frequent spike discharges from left or centrotemporal area during sleeping. We report a case of Rett syndrome with brief review of related literatures.
Ataxia ; Child, Preschool ; Diagnosis ; Electroencephalography ; Female ; Hand ; Humans ; Intellectual Disability ; Neurodegenerative Diseases ; Respiration ; Rett Syndrome* ; Seizures

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

Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by fluorescent in-situ hybridization (FISH).
Arm ; Child ; Chromosomes, Human, Pair 4 ; Diagnosis ; Female ; Humans ; Hypertelorism ; Intellectual Disability ; Lip ; Wolf-Hirschhorn Syndrome*

Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by fluorescent in-situ hybridization (FISH).
Arm ; Child ; Chromosomes, Human, Pair 4 ; Diagnosis ; Female ; Humans ; Hypertelorism ; Intellectual Disability ; Lip ; Wolf-Hirschhorn Syndrome*