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Objectives: To compare development/cognition, adaptive function and maladaptive behaviorof HIV-infected and HIV-exposed uninfected children between 2 to 9 years with HIV-uninfected controls. Methods: This hospital-based cross-sectional study was conductedfrom November, 2013 to March, 2015. 50 seropositive HIV-infected, 25 HIV-exposeduninfected and 25 HIV-uninfected children between 2 to 9 years were administeredDevelopmental Profile 3, Vineland Adaptive Behavior Scale 2, and Child Behavior Checklistfor assessing development, adaptive function and maladaptive behaviour, respectively.Additional data were obtained by history, examination and review of records. Results:Significant developmental/cognitive impairment was observed in 38 (76%), 16 (64%) and 6(24%) HIV-infected, HIV-exposed uninfected, and HIV-uninfected children, respectively.Significant impairment in adaptive function was found in 12 (24%) and 2 (8%) HIV-infectedand HIV-exposed uninfected children, respectively. Maladaptive behavior was not seen in anygroup. Conclusions: High magnitude of impaired development/cognition and adaptivefunction in HIV-exposed and HIV-infected children warrants assessment of these domainsduring follow-up of these children, and incorporation of interventions for these deficits instandard care for this group.
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Objective: To determine the diagnostic accuracy of Indian Scalefor Assessment of Autism (ISAA) in children aged between 2-5years.Design: Study of diagnostic accuracySetting: Tertiary level hospital, (November 2015 – November2017).Participants: A consecutive sample of 500 children withsuspected Autism (delay or regression of developmentalmilestones, delay or regression in speech, age-inappropriateunderstanding, behaviour, play and/or social interaction) wasrecruited.Procedure: Each child underwent an expert comprehensiveassessment of Autism (reference tool) that included history,observation, examination, diagnostic criteria for Autism SpectrumDisorder (ASD) of the Diagnostic and Statistical Manual of MentalDisorders’, 5th edition, Childhood Autism Rating Scale-2(CARS2), developmental status and adaptive function. This wasfollowed by the administration of ISAA (test tool) in Hindilanguage. Parameters of diagnostic accuracy and ReceiverOperating Characteristic curves were computed.Main Outcome Measures: ASD based on (i) expert assessment,(ii) CARS-2, and (iii) ISAA.Results: In children aged 2-3 years, sensitivity of ISAA was 100%(95% CI 98.2% -100%), specificity 28.9% (95% CI 17.7% to43.4%), positive likelihood ratio 1.4 and negative likelihood ratio 0.In 3-5 year olds, sensitivity was 99.6% (95% CI 97.6% to 99.6%),specificity 33.3% (95% CI 15.1% to 58.3%), positive likelihoodration 1.5 and negative likelihood ratio 0.01. The degrees ofautism based on the existing cut off values were inaccurate.Conclusions: ISAA has sub-optimal performance in diagnosingand assessing severity in 2-5 year old children.
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Objective: To determine the diagnostic accuracy of Indian Scale for Assessment of Autism (ISAA) in children aged 2-9 year at high risk of autism, and to ascertain the level of agreement with Childhood Autism Rating Scale (CARS). Design: Diagnostic Accuracy study Setting: Tertiary-level hospital. Participants: Children aged between 2 and 9 year and considered to be at a high risk for autism (delayed development, and age-inappropriate cognition, speech, social interaction, behavior or play) were recruited. Those with diagnosed Hearing impairment, Cerebral palsy, Attention deficit hyperactivity disorder or Pervasive developmental disorders (PDD) were excluded. Methods: Eligible children underwent a comprehensive assessment by an expert. The study group comprising of PDD, Global developmental delay (GDD) or Intellectual disability was administered ISAA by an investigator after one week. Both evaluators were blinded. ISAA results were compared to the Expert’s diagnosis and CARS scores. Results: Out of 102 eligible children, 90 formed the study group (63 males, mean age 4.5y). ISAA had a sensitivity 93.3, specificity of 97.4, positive and negative likelihood ratios 85.7 and 98.7 and positive and negative predictive values of 35.5 and 0.08, respectively. Reliability was good and validity sub-optimal (r low, in 4/6 domains). The optimal threshold point demarcating Autism from ‘No autism’ according to Receiver Operating Characteristic curve was ISAA score of 70. Level of agreement with CARS measured by Kappa coefficient was low (0.14). Conclusions: The role of ISAA in 3-9 year old children at high risk for Autism is limited to identifying and certifying Autism at ISAA score of 70. It requires re-examination in 2-3 year olds.
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Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected.
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A 6-year old boy presented with mental retardation, hypotonia, abnormal facies, impaired hearing, protuberant eyes, visual impairment, short stature, Axenfeld- Rieger anomaly, a bicuspid aortic valve, and bilateral sensorineural deafness. CT scan of head suggested dysmyelination of the subcortical and periventricular white matter. FISH revealed a subtelomeric microdeletion encompassing both FOXC1 and FOXF2 loci within 6p25. Dysmyelination of the central nervous system has been infrequently described earlier in patients with 6p25 deletion.
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A 10-year-old boy, issue of unrelated parents presented with visual impairment, short stature and mental retardation. The presence of a Peters' anomaly, mental retardation, disproportionate short stature, skeletal abnormalities and distinctive facial features (broad forehead, telecanthus, cupid bow shaped upper lip) established the diagnosis of Peters' plus syndrome. Analysis of his genomic DNA revealed a homozygous deletion in the beta1,3-galactosyltransferase-like gene (B3GALTL), a recently identified gene.