Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders

Rebecca HintonClinical Trials Center, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA;Fragile X Clinic, Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA

Dejan B. BudimirovicClinical Trials Center, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA;Fragile X Clinic, Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA

Peter B. MarschikFragile X Clinic, Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA;Institute of Physiology (Developmental Physiology and Developmental Neuroscience; IN:spired), Center for Physiological Medicine, Medical University of Graz, AustriaCorrespondence[email protected]

Victor B. TalisaClinical Trials Center, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA

Christa EinspielerInstitute of Physiology (Developmental Physiology and Developmental Neuroscience; IN:spired), Center for Physiological Medicine, Medical University of Graz, Austria

Tanjala GipsonClinical Trials Center, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA

Michael V. JohnstonClinical Trials Center, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA

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Abstract

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.

Keywords

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Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders

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Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders

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