Cataract surgery outcomes in pediatric patients with systemic comorbidities

Purpose: The aim of the study was to evaluate the outcomes of cataract surgery in patients of the pediatric age group with systemic comorbidities. Methods: Medical records of 54 eyes (30 patients) of the pediatric age group with systemic comorbidities who had undergone cataract surgery in a tertiary?care center were reviewed. The following parameters were recorded: systemic comorbidity; toxoplasmosis, rubella, cytomegalovirus, herpes simplex, HIV (TORCH) profile, best spectacle?corrected visual acuity (BSCVA), strabismus, nystagmus, and cataract morphology. Results: Thirty patients with a mean age of 55 months (9 months–14 years) were included. On average, every child was seen by three physicians, and the mean duration between the first visit to a physician and presentation to our center was 2.23 ± 0.67 years. The various causes for delay in referral include multiple referrals due to a lack of general anesthesia services in 78% of cases, a long waiting list at the referral hospital in 35% of cases, and a lack of awareness at the primary?care physician level in 50% of cases. The mean BSCVA at presentation was 1.4 logMAR (0.3 to 3 logMAR). The most common cataract morphology was that of zonular cataract (31.48%; 17/54). Strabismus and abnormal eye movements were observed in 27.7% (15/54) and 33.3% (18/54) of eyes, respectively. Various systemic associations were periventricular leukomalacia (12/30), Down’s syndrome (6/30), seizure disorder (6/30), cardiac valvular anomalies (6/30), Marfan’s syndrome (4/30), hypothyroidism (4/30), rubella (3/20), cytomegalovirus (3/20), cerebral palsy (2/30), nephrotic syndrome (2/30), Type 1 diabetes mellitus (1/30), microcephaly (1/30), cryptogenic West syndrome (1/30), congenital rubella syndrome (1/30), and Tourette syndrome (1/30). The mean postoperative corrected distance visual acuity (CDVA) at 2?year follow?up improved to 1.0 logMAR (0 to 3 logMAR). No postoperative complications were reported at the final follow?up. Around 70% of the parents reported improvement in their child’s psychomotor skills. Conclusion: Intellectually impaired pediatric patients with cataract should be operated upon whenever there is a presence of infrastructure, and unnecessary delay in surgery should be avoided by referring the patient to higher centers. Even though objective improvement in visual acuity was suboptimal, there was definitely an improvement in the psychomotor skills of the patients.

MODY11 induced by heterozygous mutations of a novel B lymphocyte kinase / 中华内分泌代谢杂志

To characterize the clinical and molecular features of a patient with maturity-onset diabetes of the young 11(MODY11) and literature review. The patient was a 30-year-old female with hyperglycemia for 2 years. Failure to thrivea, primary amenorrhea, intellectual impairment, and severe hyperlipidemia were present at the same time. A novel mutations of the B lymphocyte kinase gene(BLK) c. 1025C>T(p.A342V) was found in the patient. Literature review revealed that there were more than ten mutation sites in BLK-MODY11. Some of them had hyperglycemia, over weight or systemic lupus erythematosus. To date, the clinical characteristics of the patient, such as growth retardation, primary amenorrhea, and intellectual impairment have not been reported in MODY11. Our clinical report further expands the clinical presentations and variabilities of MODY11.

Comparison of Standards of Intellectual Impairment in China Using ICF / 中国康复理论与实践

Objective:To compare the standards of intellectual impairment in China based on ICF to provide evidences for standardization of identification and services of intellectual impairment. Methods:The national standards of intellectual impairment or injury from Standard of Identification of Work Capacity: Identification Classification of DisabilityCaused by Work-related Injuries, Occupational Diseases and Classification of Impairment Related to Injury and China Insurance Disability Standard and Code were compared under the framework, terminology, coding and evaluation of ICF. Results:These three standards covered ICF three components, including body structure, body function, activity and participation, but not contextual factors. The terminology and coding system of China Insurance Disability Standard and Code came from ICF. However, there was no standardized terminology and coding system among sectors. The classification and evaluation for intellectual impairment were different among these three standards, that made it difficult to compare the outcome directly. Conclusion:It is proposed to adopt the ICF framework and approach to standardize the definition, terms, coding, and evaluation of intellectual impairment in disability standards in China to promote data exchange of evaluation and service among sectors.

The Effects of Computerized Gaming Program on Cognition in Children with Mental Retardation: A Case Study

PURPOSE: The purpose of this study was to analysis of effectiveness between cognitive function assessment scores and gaming cognitive rehabilitation system in children with intellectual impairment. METHODS: Five children (male=5, age=10.00±0.80) with intellectual impairment participated in this study and were randomly assigned to the experiment that played (received) gaming cognitive rehabilitation system (Neuroworld). The children were applied 2 times a week for 30 minutes during 3 months. The children were assessed K-WSIC-VI (Korean-Wechsler intelligence scale for children-fourth edition) and recorded that gained score in gaming cognitive rehabilitation system before and after intervention. K-WSIC-VI contained five primary index scores: verbal comprehension index, visual spatial index, fluid reasoning index, working memory index, and processing speed index. Gaming cognitive rehabilitation system scoring was composed visual recall, target recall, sequence recall, selective attention, continuous attention, and exploration. RESULTS: In the intelligence quotient (IQ) of K-WSIC-VI, there were significant increased in all children. The visual recall item was highest effective in all children. However, sequential recall showed the lowest improvement in all children. The performance speed of selective attention item was decreased, this means that children's skills have improved. Also, their ability to explore has improved significantly. CONCLUSION: In conclusion, gaming cognitive rehabilitation system was significant effectiveness in cognitive function in some categories for children with intellectual impairment. However, the visual recall and performance speed don't represent of all cognitive function. Therefore, further studies will need to verify by applying more subject and longer duration.

Well Baby Clinic: Developmental Guidance according to the Parent's Chief Complaints

Despite the relatively high prevalence (5~10%) of developmental disability, the early identification for such problems remains difficult. Doctors who care children with developmental delay tried to find out these disorders as early as possible in order to apply an early intervention and reduce the long-term disabilities among them. Identification of a delayed young child by routine out-patient's clinic mandates a careful search for an underlying etiology. This article discusses the available approaches for the infants and young children with various kinds of developmental disabilities, according to the parent's chief complaints including 'unable to walk', 'unable to speak', 'unable to control temper', and 'unable to contact his or her eyes'.