Staten Island, N.Y. – August 17, 2023 The New York State Office for People With Developmental Disabilities (OPWDD) today announced the publication of findings from two studies of neurodevelopmental disorders associated with the genes NAA10 and NAA15 conducted by scientists at the Institute for Basic Research in Developmental Disabilities (IBR). Two research teams were led by geneticist and psychiatrist Gholson Lyon, MD, PhD, of the OPWDD’s IBR, and included colleagues Katherine Sandomirsky and Elaine Marchi, MS, both of the Department of Human Genetics, and Maureen Gavin, RN-BC CDDN, and Karen Amble, LMSW, both of IBR’s George A. Jervis Clinic.
One research team studied 61 children with NAA10-related neurodevelopmental syndrome and found a high prevalence of growth failure, with weight and height percentiles often indicating failure-to-thrive (FTT). The exact cause of poor growth in these individuals is unknown, and the degree to which gastrointestinal symptoms contribute to this problem remains uncertain. However, the team’s analysis of nine children who received tube feeding found it to be effective in improving weight gain and caregiving.
Based on these findings, the authors recommend that if children with NAA10-related neurodevelopmental syndrome are exhibiting failure to thrive past one year of age, treating physicians should be consulted regarding the possibility of starting tube-feeding to avoid prolonged growth failure. These findings were published in the article, “Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10‐related neurodevelopmental syndrome,” in the American Journal of Human Genetics Part A.
Another IBR research team studied the clinical characteristics, or phenotype, of people with NAA10- and NAA15-related neurodevelopmental syndromes The analysis revealed a spectrum of intellectual disability, delayed developmental milestones, autism spectrum disorder, craniofacial dysmorphology, cardiac anomalies, seizures, and visual abnormalities, including cortical visual impairment and microphthalmia. Although there was some overlap between the two syndromes, the study found overall functioning is significantly lower in individuals with NAA10 variants than in individuals with NAA15 variants. These findings were published in the article, “Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome,” in the European Journal of Human Genetics. In this study, Dr. Lyon’s IBR team collaborated with institutions in the United States, Canada, Germany, Portugal, and Spain. Additional IBR scientists involved in this study were Marall Vedaie, MS; Travis Beisheim; Agnes Park; Isabelle Preddy; Marcellus Tseng; and Ellen Herr-Israel, PhD.
“These studies advance our understanding of the rare NAA10-related and NAA15-related neurodevelopmental syndromes,“ said Kerri Neifeld, Commissioner for the Office for People With Developmental Disabilities. “The recommended intervention for failure to thrive in the NAA10-related syndrome offers hope for children who experience this rare genetic condition.”
These studies were funded in part by OPWDD and the National Institutes of Health.
About OPWDD and IBR: The Institute for Basic Research in Developmental Disabilities (IBR) is the research arm of the New York State Office for People With Developmental Disabilities (OPWDD). IBR also provides clinical services and conducts educational programs. OPWDD is responsible for coordinating services for New Yorkers with developmental disabilities, including intellectual disabilities, cerebral palsy, Down syndrome, autism spectrum disorders, Prader-Willi syndrome, and other neurological impairments.