Early Signs of Fragile-X Syndrome

Principal Investigator: Dejan Budimirovic

The proposed study intends to begin identifying early signs of deviation from typical development (i.e., motor, language/communication, social) in individuals with FXS. Our study will be based on the retrospective analysis of family audio-video recordings of individuals with FXS. The study design is based on (a) literature and (b) our own studies that demonstrated abnormalities in early motor and postural patterns and atypical behavioral profile in the first years of life of individuals with Rett syndrome.

The aim of the proposed study is to test the hypotheses that individuals with FXS will have:
(1) abnormal endogenously generated general movements and age-inadequate and abnormal postural patterns;
(2) abnormal intentional and purposeful movements, and
(3) deviations in speech-language development and socio-communicative skills.

By identifying the early signs of deviation from typical development in individuals with FXS this study aims at facilitating timely genetic diagnosis of FXS. That will enable affected individuals with FXS to receive early intervention services and their families timely genetic counseling.