Individuals with FXS-only are more delayed in the onset of first words than first walks

Dr Peter B. Marschik Photo INSTITUT FÜR PHYSIOLOGIE

Parental reports on early language and motor milestone in fragile X syndrome with and without autism spectrum dirorders

Developmental Neurorehabilitation, 2013, Vol. 16, No. 1 , Pages 58-66 (doi:10.3109/17518423.2012.704414)
Objective: This study examined features of early language and motor milestones in children with fragile X syndrome (FXS) and contrasted these features with a diagnosis of Autism Spectrum Disorder (ASD) later in life in these children.

Methods: We retrospectively examined parental report of age of onset for walking and first words for primarily boys with FXS, both with ASD (FXS?+?ASD) and FXS-only. The diagnosis of ASD was established by DSM-IV criteria, which were complemented by the ADOS. The age of onset was analyzed as a continuous and categorical variable, which were compared to the upper limit of typically developing children.

Results: Individuals with FXS-only are more delayed in the onset of first words than first walks. The finding represents a pattern suggesting a continuum as robustly demonstrated in individuals with FXS?+?ASD vs. FXS-only.

Conclusion: Our results support validity of FXS?+?ASD co-morbidity as a distinct phenotype in individuals with FXS.

1Clinical Trials Center, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA
2Fragile X Clinic, Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA
3Institute of Physiology (Developmental Physiology and Developmental Neuroscience; IN:spired), Center for Physiological Medicine, Medical University of Graz, Austria

*Correspondence: Dr. Peter B. Marschik, MPhil PhD DMSc, Institute of Physiology, Center for Physiological Medicine, Medical University of Graz, Harrachgasse 21/5, 8010 Graz, Austria, 433163807629, 433163809630 peter.marschik@medunigraz.at

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