Prediction of outcome from MRI and general movements assessment after hypoxic-ischaemic encephalopathy in low-income and middle-income countries: data from a randomised controlled trial.

OBJECTIVE: To evaluate the accuracy of neonatal MRI and general movements assessment (GMA) in predicting neurodevelopmental outcomes in infants with hypoxic-ischaemic encephalopathy (HIE). DESIGN: Secondary analyses of a randomised controlled trial (RCT). SETTING: Tertiary neonatal intensive care unit in India. METHODS: Fifty infants with HIE were included in an RCT of therapeutic hypothermia (25 cooled and 25 non-cooled). All infants underwent brain MRI at day 5, GMA at 10-15 weeks and outcome assessments including Bayley Scales of Infant and Toddler Development, third edition, at 18 months. Associations between patterns of brain injury, presence/absence of fidgety movements (FMs) and outcomes were assessed. RESULTS: Seventeen of 47 (36%) had adverse outcome (5 (21%) cooled vs 12 (52%) non-cooled, p=0.025). Eight infants died (four before an MRI, another three before GMA). Two developed severe cerebral palsy and seven had Bayley-III motor/cognitive composite score <85. Twelve (26%) had moderately/severely abnormal MRI and nine (23%) had absent FMs. The positive predictive value (95% CI) of an adverse outcome was 89% (53% to 98%) for moderate/severe basal ganglia and thalami (BGT) injury, 83% (56% to 95%) for absent/equivocal signal in the posterior limb of the internal capsule (PLIC) and 67% (38% to 87%) for absent FMs. Negative predictive values (95% CI) were 85% (74% to 92%) for normal/mild BGT injury, 90% (78% to 96%) for normal PLIC and 86% (74% to 93%) for present FMs. CONCLUSIONS: Neonatal MRI and GMA predicted outcomes with high accuracy in infants with HIE. The GMA is a feasible low-cost method which can be used alone or complementary to MRI in low-resource settings to prognosticate and direct follow-up. TRIAL REGISTRATION NUMBER: CTRI/2013/05/003693.

Neurodevelopmental Outcomes of Very Low Birth Weight Infants at 18-24 Months, Corrected Gestational Age in a Tertiary Health Centre: A Prospective Cohort Study.

OBJECTIVE: To determine the prevalence and risk factors for poor neurodevelopmental outcome in a cohort of very low birth weight (VLBW) infants. SUBJECTS AND METHODS: Four hundred and twenty-two infants of a total of 643 VLBW survivors from a teaching hospital in South India were followed up to assess their neurodevelopmental outcomes. RESULTS: Among the 422 children who completed the assessment, results of 359 children whose assessments were done between 18 and 24 months were analysed. Thirty-seven children (10.31%) had poor neurodevelopmental outcome, six children [1.67%] had cerebral palsy, one child had visual impairment and another had hearing impairment. Poor post-natal growth was independently associated with poor neurodevelopmental outcomes in the multivariate analysis (p = 0.045). Neonatal complications were not associated with the developmental outcome. CONCLUSION: Despite lower rates of neonatal complications compared with Western cohorts, significant proportion of VLBW infants had poor neurodevelopmental outcomes. Poor post-natal growth was an important determinant of the developmental outcome.

Dysmorphism in Non-Syndromic Autism: A Cross-Sectional Study.

OBJECTIVE: To determine the effect of association of dysembryogenesis (manifested by presence of dysmorphic markers) on the developmental profile of autistic children. METHODS: 26 autistic children were classified into complex autism (if they had specific dysmorphic markers) or essential autism (in the absence of dysmorphic markers) using the Miles Autism Dysmorphology Measure (ADM). The developmental abilities (Griffith's Mental Development Scales) and the clinical severity (Childhood Autism Rating Scale) of both groups were compared. The prevalence of dysmorphic markers was also determined in 140 non-autistic controls. RESULTS: Children with complex autism had poorer development (General Quotient 29.4 vs 34.0, P=0.06) and earlier onset of autistic symptoms (18 vs 24 mo, P=0.05). Dysmorphic markers were significantly more in autistic children compared to normal children (27% vs 10%, P=0.002). CONCLUSION: Dysembryogenesis may contribute to the clinical heterogeneity of autistic children.

An Indian boy with additional features in Pallister-Killian syndrome.

Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic genetic disorder characterized by pigmentary skin changes, distinctive dysmorphology, developmental delay, and mosaicism for tetrasomy of chromosome 12p. The authors report a case of PKS in a 2-y-old boy. He had pigmentary skin changes, characteristic facial features, developmental delay and hearing loss. He had sacral and post-auricular pits in addition, which has not yet been reported. A diagnosis of PKS was suspected on the basis of the patient's clinical features. Skin fibroblast culture was done which showed mosaic tetrasomy of isochromosome 12p consistent with Pallister-Killian syndrome. This case highlights the importance of dysmorphology as a diagnostic tool for recognition and accurate genetic counseling in genetic syndromes.

Neurodevelopmental outcome following whole body cooling for perinatal asphyxia.

This follow-up study conducted on children who underwent therapeutic cooling for hypoxic ischemic encephalopathy, showed normal neurodevelopmental outcome with normal milestones and normal developmental quotient in a minimum of 60% of children at 18-24 months of age. This study shows comparable neurodevelopmental outcome in infants who underwent cooling in a resource poor setting, when compared with existing literature.