Pediatric Neurologist and a Developmental Pediatrician, Neurometabolism. Areas of practice: Pediatric Neurometabolic Precision Health: Early brain development, inborn errors of metabolism, autistic regression, CP phenotypes, Pediatric Movement Disorders. Additional areas of interest: Developing equitable medicine services through community engagement, Equity Diversity, and Inclusion in Academic Medicine.
Areas of Research: Autistic Regression, Inborn Errors of Metabolism, CP phenotypes, Pediatric Neurotransmitter Disease, Equity Diversity Inclusion Academic Medicine
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Between January 1st 2015 and May 15th 2020, 429 patients were enrolled in the iNTD patient registry. Of these entries, 350 patients had a diagnosis of biogenic amine disorders. 75 patients who were transferred from the JAKE database on aromatic L-amino acid decarboxylase deficiency (http://www.biopku.org/home/jake.asp) were not analyzed in this study due to the high number of missing variables of interest. The remaining cohort of patients with disorders of biogenic amines consisted of 275 patients from 248 families (157 female (57%), from 42 countries: 196 patients born in Europe, 42 in North America, 34 in Asia, three in Central/South America and one in Africa). 109 patients had primary disorders of biogenic amine metabolism, 161 BH4 deficiencies (BH4Ds) and five patients DNAJC12D (Tables 2 and 3). All diagnoses were confirmed either by mutational analysis alone or by a combination of specific biochemical tests in CSF, urine and blood (Table 4).
Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population
Major conclusions: Given the combined high yield of positive genetic diagnosis in pediatric and adult cases presenting with symptoms of Cerebral Palsy, and the more readily available Next Generation Sequencing testing in major academic centres, we recommend that either a referral to a pediatric or adult neurometabolic centre to be made, or genetic testing to be initiated where this is available.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
This study is the first to analyze IQ, behavioral patterns, and QoL data from a large cross-disease cohort of pediatric and adult patients with NTDs. We describe previously unreported behavioral phenotypes that will contribute to a better assessment of patients and better psychological treatment approaches.