Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.
CTNNB1 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 th...
| Publicado en: | Journal of Autism & Developmental Disorders Vol. 56; no. 9; pp. 3655 - 3670 |
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| Autores principales: | , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Springer Nature
Sep2026
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=195843198&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 195843198 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 01623257 AUT jtl: Journal of Autism & Developmental Disorders issn: 01623257 maglogo: N pubinfo: dt: Sep2026 vid: 56 iid: 9 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 195843198 184515561 195843198 195843198 10.1007/s10803-025-06829-5 195843198 ppf: 3655 ppct: 15 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations. aug: au: Pallarès-Sastre, Mercè Amayra, Imanol Pulido, Rafael Nunes-Xavier, Caroline E. Bañuelos, Sonia Cavaliere, Fabio García, Maitane affil: https://ror.org/00ne6sr39 Neuro-e-Motion Research Team, Department of Psychology, Faculty of Health Sciences, University of Deusto, Avenida de las Universidades 24, Deusto, 48007, Bilbao, Spain sug: subj: Mental Disorders Diagnosed in Childhood Genetic Variation Spain Disease Attributes Human Male Female Child, Preschool Child Adolescence Spain Cross Sectional Studies Maternal Age Adult Autism Spectrum Disorder Developmental Disabilities Motor Neuron Diseases Rare Diseases Questionnaires Interviews Scales Test-Retest Reliability Data Analysis Software Mann-Whitney U Test Spearman's Rank Correlation Coefficient Wilcoxon Signed Rank Test Funding Source Cognition Disorders Microcephaly Speech Disorders Sleep Disorders Activities of Daily Living Child, Preschool: 2-5 years Child: 6-12 years Adolescent: 13-18 years Adult: 19-44 years Male Female ab: CTNNB1 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. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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