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Researchers dive deep into relationships between anxiety and Intolerance of Uncertainty in Fragile X Syndrome In a study supported by the Baily Thomas Charitable Fund, Cerebra and the Cornelia de Lange Syndrome Foundation UK and Ireland, a group of researchers has contrasted the relationship between anxiety and Intolerance of Uncertainty in Fragile X Syndrome (FXS) and Cornelia de Lange Syndrome (CdLS). You can read the full article by Smith et al here, but if you want a shorter version about the FXS-specific findings, please keep reading this blog. Approximately 30% of males with FXS meet the diagnostic criteria for a separate diagnosis of co-occurring autism. However, the subtle differences in the presentation and severity of autistic characteristics in people with FXS and CdLS compared with those with nonsyndromic autism is under-studied. For example, boys with FXS are less likely to display differences in social reciprocity (e.g., social smiling) compared with autistic boys of the same age. This suggests that, despite similarities in characteristics, nuanced differences in autism presentation may make it challenging to differentiate autism from the inherent behavioural phenotype of rare genetic syndromes, yet it also affords the opportunity to examine the relationship between profiles of autistic characteristics and anxiety. What is the Intolerance of Uncertainty? The Intolerance of Uncertainty may explain the relationship between autism and anxiety in FXS. It is characterised by distress or difficulty functioning during uncertain or unpredictable situations, a strong preference for predictability, and cognitive or behavioural paralysis or inhibition. It has been identified as an important risk factor for the development and maintenance of anxiety in the general population and has been implicated as a critical factor underpinning anxiety. Understanding the relationship between the Intolerance of Uncertainty and anxiety in FXS is important for the development of tailored interventions to reduce anxiety in rare genetic syndromes associated with intellectual disability. Findings of the study The results from the study suggest that the relationship between autistic characteristics, anxiety and levels of Intolerance of Uncertainty (IU) differs for people with CdLS and males with FXS. While the CdLS and FXS groups did not differ in autistic characteristics, anxiety symptom severity or levels of IU, levels of IU fully mediated the relationship between autism characteristics and anxiety symptom severity for the CdLS group, but not for the FXS group. This means that when compared to the effects of IU in those with FXS, participants with CdLS showed greater levels of IU impact in the relationship between autism and anxiety.These findings improve our understanding of the autism–anxiety relationship and can inform future research directions, as well as potential new interventions and theoretical frameworks, improving quality of life for individuals with rare genetic syndromes and their families.

Researchers dive deep into relationships between anxiety and Intolerance of Uncertainty in Fragile X Syndrome 
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Kirsten Johnson speaking from a podium

FraXI at the 13th European Conference on Rare Diseases & Orphan Products (ECRD 2026)
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Prof Frank Kooy, Dr. Kirsten Johnson. Prof Claudia Bagni and Prof Peng Jin smiling for the camera

Reporting from the Gordon Research Conference: Mechanistic Insights and Therapeutic Development for Fragile X and Neurodevelopmental Disorders
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Boy with FXS shows a thumbs up

FraXI publishes position paper on the direction of future research and clinical efforts
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A boy walks away from the photographer at a lake.

US-based research on caregivers – perceived behavioural challenges in FXS
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Significant group differences in cortical thickness between FXS and ASD

New Study unpacks Cerebral Cortex Morphometry and Relaxometry in Male Children With Fragile X Syndrome and Autism
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Woman turning away from camera

U.S. Researchers develop educational tool for healthcare providers’ better understanding of women with Fragile X-associated primary ovarian insufficiency (FXPOI)
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Pink flowers

Gordon Research Conference (June 14-19, 2026, Maine, USA): Mechanistic Insights and Therapeutic Development for Fragile X and Neurodevelopmental Disorders
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FraXI’s President Dr Kirsten Johnson at the 79th World Health Assembly

FraXI’s President Dr Kirsten Johnson at the 79th World Health Assembly
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Marcia Braden smiling for the camera

In Conversation with Dr Marcia Braden 
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Shalini and her son smiling for the camera

Fragile X Society India unveils world’s first short film on FXS
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Dr Alice Montanaro in a group photo with 21 happy looking people who have helped her with her PhD research

“Listening to my patients”: Interview with Dr Alice Montanaro on her PhD research
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A drawing of two boys smelling on a flower, one loving it and the other one less

FraXI Board of Advisors member Prof Claudia Bagni leads new study on FXS and smell
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Brid hugging Phoebe in front of the inflatable arches that mark the start

A Rare Invisible String
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A diagram showing the impacts of FXTAS in male and female humans

Sequence of neuropsychiatric symptoms for fragile X-associated tremor/ataxia syndrome (FXTAS) is different in females compared to males, new study finds 
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Paulin Madia and Ruth Kabengele with their two boys in front of a red wall

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Kayla and her colleagues at University of Warwick

“Transparent, collaborative, and hopeful”: Postdoctoral Researcher Kayla Smith on the world of FXS research
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Far og dreng

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Brid står foran havet og danner et X med sine arme

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Boston Scientific-logo og FraXI-logo, da de arbejder sammen om Fragile XChange

Vi præsenterer Fragile Xchange: En global digital platform for FXS-ressourcer støttet af Boston Scientific Foundation Europe
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Et ansigt i et spejl, som har en blå farve

Forholdet mellem visuel social opmærksomhed og hjertefrekvens defineret som vedvarende opmærksomhed hos FXS 
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Globalt syn på Fragilt X-syndrom

Nyt studie undersøger, hvordan neuroadfærdsmæssige resultater hænger sammen med Activation Ratio (AR) hos kvindelige bærere af den fulde mutation i FXS.
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Unge på stranden ved solnedgang

Vores livskvalitet med FXS: Nyt studie ændrer livskvalitetsresultater for unge, der lever med sjældne sygdomme 
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En lampion over en kanal i Thailand

30 års forskning i FXS i Thailand
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Kvinde knæler foran vand

Mellemøstlige mødre til børn, der lever med FXS: Undersøgelse afslører daglige kampe og barske sandheder
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Vær forandringens stemme: Tag den nye Rare Barometer-undersøgelse
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Hjemmeside for sjældne barometerundersøgelser

Resultater af Sjældenhedsbarometerets stemmeundersøgelse om diagnoser
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Fremtiden for genomisk screening af nyfødte: Screen4Care
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Kirsten Johnson på den 6. internationale konference om FXPAC

FraXI på den 6. internationale konference om FXPAC
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80 års fremskridt inden for FXS-forskning
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Fragilt X-syndrom gennem hele livet

Fragilt X-syndrom gennem hele livet med fokus på genetik, neuroudvikling, adfærd og psykiatriske sammenhænge: En ny systematisk gennemgang
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Kvinde med FXS arbejder med finmotorik

En systematisk gennemgang af ikke-farmakologiske interventioner rettet mod motoriske vanskeligheder hos børn med neurodivergens
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Mørke røgfyldte skyer og en frisk himmel

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En person går langs en vej om efteråret

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Dr. Alice Montanaro

"Når livet bliver mere krævende": En livslang, multi-integreret tilgang til at levere neuropsykologisk-kognitiv adfærdsterapi til unge voksne, der lever med FXS.
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International workshop om Fragilt X-syndrom: til minde om professor Alessandra Murgia

International workshop om Fragilt X-syndrom: til minde om professor Alessandra Murgia
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Rishabh Jain (på billedet ovenfor sammen med Aamir Khan) er verdens første skuespiller, der lever med FXS.

At bringe FXS til det store lærred: Banebrydende fremstillinger af Fragilt X-syndrom på film
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En far og to drenge, der lever med Fragilt-X-syndrom

"På trods af deres intellektuelle handicap og autismekarakteristika er børn med FXS dygtige til at mentalisere", viser en ny undersøgelse. 
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6 måneder i tilbageblik
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Form forskning, forandr liv: din stemme er vigtig!
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Kvindelige fødder i vandet.

Forandringer i hjernens netværk ved Fragilt X-syndrom
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Dreng læner sig op ad et træ

Beskrivelse og klassificering af ansigtskarakteristika - Ny udvikling
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Dreng med FXS holder en baby

Nyt studie dokumenterer sammenhængen mellem fælles genetisk variation og adfærdsudvikling hos mænd, der lever med FXS
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Mand med en dreng på skuldrene går selvsikkert i solnedgangen

#Resolution4Rare - En skelsættende resolution
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Running the X for Fragile X - Interview med Bríd
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En ny systematisk gennemgang
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Taleudvikling - nyt studie
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Medlemsmøde i Barcelona

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Jeg støtter Sjældne sygdomme-dagen

Fejring af Sjældenhedsdagen - 28. februar 2025
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Dreng på en bunke tømmer.

Resultater af Sjældne Barometer-undersøgelsen 2025: Anerkendelse af handicap og barrierer
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FraXI-nyhedsbreve
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International Fragilt X-opmærksomhedsdag 2024

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Glæden ved Fragilt X - en artikel er blevet udgivet
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Logo for Sjældne sygdomme

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Et gruppebillede om aftenen ved et Fragile X International-møde i Lyon, Frankrig.

Vi fejrer international opmærksomhed på skrøbeligt X!
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Folk går under tunge skyer

Pressemeddelelse om begrebet FXPAC
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En dreng med FXS foran børnebøgerne

Ændring af FMR1-navnet