Novel CTNNB1 gene variants in spanish CTNNB1 syndrome patients: clinical and psychological manifestations

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dc.contributor.authorPallarès Sastre, Mercè
dc.contributor.authorAmayra Caro, Imanol
dc.contributor.authorPulido, Rafael
dc.contributor.authorNunes Xavier, Caroline Elisabeth
dc.contributor.authorBañuelos Rodriguez, Sonia
dc.contributor.authorCavaliere, Fabio
dc.contributor.authorGarcía Martín, Maitane
dc.date.accessioned2026-10-07T16:06:03Z
dc.date.available2026-10-07T16:06:03Z
dc.date.issued2026-09
dc.date.updated2026-10-07T16:06:03Z
dc.description.abstractCTNNB1 Syndrome is a neurodevelopmental disorder caused by de novo pathogenic variants characterized by global cognitive impairment, microcephaly, speech and motor delay, abnormal muscle tone, ophthalmologic impairments, behaviour problems and autistic spectrum disorder (ASD) symptoms. The aim of this study is to carry out a thorough clinical and psychological characterization of Spanish CTNNB1 syndrome patients. We used standard clinical assessment instruments and an ad hoc questionnaire to measure motor functioning, neurodevelopmental milestones, sleep problems, daily life activities, behavioural problems, communication and speech impairments, eating disorders and autistic features in 25 participants with CTNNB1 syndrome (15 females, 10 males; mean age 7.1 ± 4.1). Main clinical manifestations reported were microcephaly, motor impairment, sight problems, sleep disturbances and sensorial problems. Attainment of developmental milestones indicated motoric, language and daily living skills to be generally delayed. All participants had adaptative skills below their chronological age, even though verbal individuals had better functioning compared to nonverbal. Regarding behaviour impairments, CTNNB1 syndrome patients scored significantly high at internalizing and externalizing behavioural problems. Additionally, about 60% presented symptoms of ASD. Our findings have important implications for the psychotherapeutic and clinical approaches of CTNNB1 syndrome patients. We show the importance of early stimulation, given that an early attainment of developmental milestones is related to a current better function of many clinical variables. Moreover, previous underrated symptoms such as sleep problems, impaired adaptative skills and high rates of behavioural symptoms should be taken into consideration due to the harmful impact that have on every day life.en
dc.description.sponsorshipThis study was funded by a grant from the Ministry of Sciences, Innovation and Universities of Spain “Formación Profesorado Universitario” (FPU22/00391 to Mercè Pallarès). Also, this study is supported by a grant from “Fundación Inocente Inocente” (FII2024-69) and another research grant from “Federación Española de Enfermedades Raras” (FEDER) at the VIII call for research grants of the FEDER Foundationen
dc.identifier.citationPallarès-Sastre, M., Amayra, I., Pulido, R., Nunes-Xavier, C. E., Bañuelos, S., Cavaliere, F., & García, M. (2026). Novel CTNNB1 gene variants in spanish CTNNB1 syndrome patients: clinical and psychological manifestations. Journal of Autism and Developmental Disorders, 56(9), 3655-3669. https://doi.org/10.1007/S10803-025-06829-5
dc.identifier.doi10.1007/S10803-025-06829-5
dc.identifier.eissn1573-3432
dc.identifier.issn0162-3257
dc.identifier.urihttps://hdl.handle.net/20.500.14454/6763
dc.language.isoeng
dc.publisherSpringer
dc.rights© The Author(s) 2025
dc.subject.otherAutism spectrum disorder
dc.subject.otherBehavioural problems
dc.subject.otherCTNNB1 syndrome
dc.subject.otherDevelopmental delay
dc.subject.otherMotor impairments
dc.subject.otherRare disease
dc.titleNovel CTNNB1 gene variants in spanish CTNNB1 syndrome patients: clinical and psychological manifestationsen
dc.typejournal article
dcterms.accessRightsopen access
oaire.citation.endPage3669
oaire.citation.issue9
oaire.citation.startPage3655
oaire.citation.titleJournal of Autism and Developmental Disorders
oaire.citation.volume56
oaire.licenseConditionhttps://creativecommons.org/licenses/by-nc-nd/4.0/
oaire.versionVoR
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