Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.
Studying Autism Spectrum Disorder (ASD) heterogeneity in biologically homogeneous samples may increase our knowledge of ASD etiology. Fragile X syndrome (FXS), Angelman syndrome (AS), Tuberous Sclerosis Complex (TSC), and Neurofibromatosis type 1 (NF1) are monogenic disorders with high a prevalence...
| Publicado en: | Journal of Autism & Developmental Disorders Vol. 56; no. 2; pp. 793 - 808 |
|---|---|
| Autores principales: | , , , , , , , , , , , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Springer Nature
Feb2026
|
| 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=191290372&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 191290372 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 01623257 AUT jtl: Journal of Autism & Developmental Disorders issn: 01623257 maglogo: N pubinfo: dt: Feb2026 vid: 56 iid: 2 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 191290372 180197246 191290372 191290372 10.1007/s10803-024-06557-2 191290372 ppf: 793 ppct: 15 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1. aug: au: Lubbers, Kyra Hiralal, Kamil R. Dieleman, Gwendolyn C. Hagenaar, Doesjka A. Dierckx, Bram Legerstee, Jeroen S. de Nijs, Pieter F.A. Rietman, André B. Oostenbrink, Rianne Bindels-de Heus, Karen G.C.B. de Wit, Marie-Claire Y. Hillegers, Manon H.J. ten Hoopen, Leontine W. Mous, Sabine E. affil: https://ror.org/018906e22 Erasmus MC Center of Expertise for Neurodevelopmental Disorders (ENCORE), Erasmus MC, Rotterdam, The Netherlands sug: subj: Autism Spectrum Disorder Epidemiology Autism Spectrum Disorder Symptoms Fragile X Syndrome Angelman Syndrome Tuberous Sclerosis Neurofibromatosis 1 Funding Source Netherlands Human Prevalence Scales Severity of Illness Male Female Infant Child, Preschool Child Adolescence Summated Rating Scaling Executive Function Intelligence Tests DSM Data Analysis Software Models, Statistical Multivariate Analysis of Variance Autism Spectrum Disorder Classification Infant: 1-23 months Child, Preschool: 2-5 years Child: 6-12 years Adolescent: 13-18 years Male Female ab: Studying Autism Spectrum Disorder (ASD) heterogeneity in biologically homogeneous samples may increase our knowledge of ASD etiology. Fragile X syndrome (FXS), Angelman syndrome (AS), Tuberous Sclerosis Complex (TSC), and Neurofibromatosis type 1 (NF1) are monogenic disorders with high a prevalence of ASD symptomatology. This study aimed to identify ASD symptom profiles in a large group of children and adolescents (0;9–28 years) with FXS, AS, TSC, and NF1. Data on ASD symptomatology (Autism Diagnostic Observation Scale (ADOS-2) & Social Responsiveness Scale (SRS-2)) were collected from children and adolescents with FXS (n = 54), AS (n = 93), TSC (n = 112), and NF1 (n = 278). To identify groups of individuals with similar ASD profiles, we performed two latent profile analyses. We identified a four-profile model based on the ADOS-2, with a (1) 'Non-spectrum symptom profile', (2) 'Social Affect symptom profile', (3)'Restricted/Repetitive Behaviors symptom profile', and (4)'ASD symptom profile'. We also identified a four-profile model based on the SRS, with a (1)'Non-clinical symptom profile', (2)'Mild symptom profile', (3)'Moderate symptom profile', and (4)'Severe symptom profile'. Although each syndrome group exhibited varying degrees of severity, they also displayed heterogeneity in the profiles in which they were classified. We found distinct ASD symptom profiles in a population consisting of children and adolescents with FXS, AS, TSC, and NF1. Our study highlights the importance of a personalized approach to the identification and management of ASD symptoms in rare genetic syndromes. Future studies should aim to include more domains of functioning and investigate the stability of latent profiles over time. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|