NYS Office for People With Developmental Disabilities’ Institute...
Staten Island, N.Y. — September 2, 2026 The New York State Office for People With Developmental Disabilities (OPWDD) announced today the publication of findings by a team of researchers, including researchers from OPWDD’s Institute for Basic Research in Developmental Disabilities (IBR), that preschool-age girls with a fragile X premutation are more likely to have clinically significant parent-reported sleep problems than girls without a premutation. The relationship between sleep and mental health also appears to differ in children with a fragile X premutation.
A fragile X premutation (PM) is a variation in the FMR1 gene in which the DNA sequence CGG is repeated between 55–200 times. Individuals with more than 200 repeats have fragile X syndrome, the most common genetic reason for intellectual disability. Although a premutation does not cause fragile X syndrome, individuals with a premutation are at increased risk for several health conditions (adult-onset fragile X-associated primary ovarian insufficiency, which affects women’s ovaries; fragile X-associated tremor/ataxia syndrome, which can cause shaking and problems with coordination; and fragile X-associated neuropsychiatric disorders, which include clinical anxiety, depression, and ADHD). It is estimated that approximately one million individuals in the United States carry a fragile X premutation.
The team was led by researchers at IBR, including Nicole D. Tortora, MS; Anne Glicksman, MS; Tiffany McGuire, MS; and Tatyana Adayev, PhD. Other organizations involved in the study were RTI International, Research Triangle Park, NC; Emory University, Atlanta, GA; and Queens College and The Graduate Center, City University of New York, Queens, NY. This study is the first to examine sleep and mental health in an unreferred cohort of children with a premutation, who were identified primarily through prenatal testing or family studies rather than because of developmental or behavioral concerns. This design reduces bias toward more severely affected children and provides data more representative of the population.
To conduct the study, the researchers used parent-completed questionnaires to evaluate sleep and emotional and behavioral functioning in two groups of children: 324 preschool-aged children (aged 3–5 years) and a longitudinal cohort of 128 children followed from ages 3–7 up to 8–13 years. Among preschool girls, 26% of those with a fragile X premutation had clinically significant sleep problems compared with 9% of girls without a premutation—nearly three times the odds. No significant difference was observed in boys. Greater sleep disturbances were associated with increased symptoms of depression and anxiety.
They also found that CGG repeat size shaped sleep-related mental health outcomes by sex. In boys with a PM, sleep problems' effect on depression peaked at mid-range repeat sizes (around 70 CGG repeats). In girls with a PM, sleep's link to anxiety grew steadily stronger as repeat size increased. CGG repeat size did not independently predict outcomes but modified the relationship between sleep problems and mental health.
The findings provide an important foundation for future studies incorporating direct neurodevelopmental and clinical assessments of children with fragile X premutation. These findings emphasize the need for more proactive and consistent monitoring of children with a fragile X premutation in early childhood, when intervention can have the most significant impact. The researchers' findings were published in the article, “Parental report–based assessment of sleep problems and mental health in an unreferred cohort of children with a fragile X premutation,” in the journal Frontiers in Molecular Neuroscience.
“This research reflects OPWDD’s commitment, not just to providing high quality services, but to advancing the field’s understanding of the underlying conditions that affect the people we support,” said OPWDD Commissioner Willow Baer. “By identifying sleep and mental health conditions early, we can help ensure that families supporting a child with a Fragile X premutation receive appropriate guidance and support when it is the most effective.”
“These findings show how important it is for studies to look beyond the children who are already flagged for concerns,” said Dr. Jill Pettinger, Deputy Commissioner for Statewide Services at OPWDD. “Because the children who were studied had not been identified through clinical referral, we’re seeing a more accurate picture of how sleep and mental health interact in the broader population of children with a premutation.”
This study was funded by the National Institutes of Health, National Institute of Child Health and Human Development. Supported in part by funds from OPWDD.
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.
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