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 to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). MATERIALS AND METHODS: We collected clinical and CMA data from patients at Konyang University Hospital between September 2013 and October 2014. We included patients who had taken the CMA test to evaluate the etiology of unexplained DD/ID. RESULTS: All of the 50 patients identified had DD/ID. Thirty-nine patients had dysmorphism, 19 patients suffered from epilepsy, and 12 patients had congenital anomalies. Twenty-nine of the 50 patients (58%) showed abnormal results. Eighteen (36%) were considered to have pathogenic CNVs. Dysmorphism (p=0.028) was significantly higher in patients with pathogenic CNVs than in those with normal CMA. Two or more clinical features were presented by 61.9% (13/21) of the patients with normal CMA and by 83.3% (15/18) of the patients with pathogenic CMA. CONCLUSION: Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID.
Epilepsy ; Humans ; Intellectual Disability

No abstract available.
Intellectual Disability ; Walker-Warburg Syndrome*

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

Objective: This case report aims to discuss the diagnosis of mental retardation as insanity defence in a crime offender. Methods: We report a gentleman who committed murder and rape 9 years ago, and currently being treated at a mental institution. Results: Patient was certified to have mental retardation, and was pleaded on the defence of unsoundness of mind because he had defect of reason at the time of alleged offence. Conclusion: Mental retardation does fulfil the McNaughton’s rule. Unsoundness of mind becomes the insanity defence even for murder under section 84 of the Penal Code.
Crime ; Intellectual Disability ; Insanity Defense

Iodine deficiency disorders (IDD) is responsible for a lot of adverse health effects and it is one of the most common causes of preventable mental impairment. Impaired cognitive function is an outcome of impaired neurodevelopment process during early pregnancy due to iodine deficiency. A few cross-sectional studies found differences in mental performance between areas with high iodine found naturally in the environment (well water) and those with low iodine level, but other studies showed otherwise. Intervention studies with iodine also give variety of results ranging from significant improvement of mental performance to non-significant findings. Malaysia faces with challenges in iodine supplementation among the population but it can be dealt with effectively if the programme is well executed and monitored.
Congenital Hypothyroidism ; Intelligence ; Intellectual Disability

Background and Objectives: The effects of home or community-based interventions in increasing physical activity in youth with intellectual disabilities are yet to be known. Such information is important in designing the care for this population because of their increased susceptibility to lifestyle diseases that affect their quality of life. This study aimed to determine the effectiveness of home or community-based interventions in increasing physical activity levels in youth with intellectual disabilities. Methodology: Eight databases were searched to identify intervention studies available in English that investigated the effects of home or community-based interventions on physical activity levels in youth with intellectual disabilities. Data were analyzed using descriptive statistics and meta-analysis using a random effects model. Effect sizes were calculated as standardized mean differences with 95% confidence intervals. Results: Six randomized controlled trials were included in this review. Home or community-based interventions had a small effect in improving physical activity levels in youth with intellectual disabilities. These effects did not reach statistical significance for physical activity levels (d = 0.33; CI = -0.11 to 0.78; p = 0.14), number of steps per unit of time (d = 0.23; CI = -0.23 to 0.68; p = 0.32), and time spent inactive (d = 0.15; CI = -0.29 to 0.60; p = 0.50). Conclusion Home or community-based interventions may be effective in increasing physical activity levels in youth with intellectual disabilities. Further research with homogeneous outcome measures and larger sample sizes need to be conducted to build on the results of this review.
Intellectual Disability ; Exercise ; Child ; Adolescent

No abstract available.
Intellectual Disability ; Muscle Weakness ; Muscular Dystrophy, Duchenne*

Hennekam syndrome is a rare autosomal recessive disorder resulting from malformation of the lymphatic system. The characteristic signs of Hennekam syndrome are lymphangiectasia, lymph edema, facial anomalies, and mental retardation. This is a case in which a patient presented with left-arm lymphedema, facial-feature anomalies, and multiple organ lymphangiectasia consistent with symptoms of Hennekam syndrome. There is no curative therapy at this time, but rehabilitative treatments including complete decongestive therapy for edema control appeared to be beneficial.
Edema ; Humans ; Intellectual Disability ; Lymphatic System ; Lymphedema

Sodium valproate is one of the most common first-line antiepileptics prescribed for primary and secondary generalised seizures. However, serious complications associated with sodium valproate, such as acute pancreatitis, need to be considered when choosing this medication for treating epilepsy in certain populations such as children and persons with intellectual disability. We report a case of a 21-year-old man with intellectual disability who presented to the emergency department with an acute abdomen, vomiting and diarrhoea. He had to undergo an emergency exploratory laparotomy during which acute necrotising pancreatitis was diagnosed intra-operatively. We believe that the recent increase in sodium valproate dosage for his epilepsy was the cause of the pancreatitis. Carers of such persons should be adequately informed regarding possible life-threatening complications of medications prescribed to avoid delay in diagnosis and unwanted incidents.
Pancreatitis ; Valproic Acid ; Anticonvulsants ; Intellectual Disability ; complications

Female ; Humans ; Intellectual Disability ; Hypertrichosis ; Amenorrhea