Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders

This study examined several different groups of participants, between the ages of 3 years and 45 years, including groups with rare genetic syndromes, groups with non-genetic developmental conditions, and neurotypical controls. The focus of the research was whether these groups would show distinct patterns on measures of symptoms, such as anxiety and sleep problems, and skills, such as daily living skills and social communication skills.

The first major finding is that the measures of these skills were reliable and had good score ranges to be able to detect differences between groups. The second major finding is that genetic syndrome groups, including people with PTEN hamartoma tumor syndrome, SYNGAP1-related developmental challenges, and NFIX-related developmental challenges showed distinct patterns. The PTEN group had generally lower symptoms and higher skills, but with significant reductions in motor skills and processing speed. The SYNGAP1 group tended to have the highest symptom levels (especially for challenging behavior) and the lowest skill levels. The NFIX group generally fell in between the other two groups but with less sleep problems and more anxiety related to physiological activation (a state of general wakefulness or attention).