[article]
| Titre : |
Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion |
| Type de document : |
texte imprimé |
| Auteurs : |
Jente VERBESSELT, Auteur ; Jeroen BRECKPOT, Auteur ; Inge ZINK, Auteur ; Ann SWILLEN, Auteur |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Humans Child Adolescent Female Male Chromosomes, Human, Pair 16/genetics Child, Preschool Intellectual Disability/physiopathology/genetics Longitudinal Studies Chromosome Deletion Chromosome Disorders/physiopathology/complications/genetics Intelligence Cognition/physiology Child Development/physiology Developmental Disabilities/genetics/physiopathology Fecal Incontinence/physiopathology Intelligence Tests Autistic Disorder 16p11.2 deletion syndrome Cognition Copy number variants Deep phenotyping Developmental trajectories Early development in accordance with the Declaration of Helsinki and approved by the Ethics Committee Research of University Hospitals Leuven (protocol code S54485, 6 December 2012 and 26 March 2021). Patients and their parents were directly informed about the aims of the research project, and all participants signed informed consent. Consent for publication: Not applicable. Competing interests: The authors declare no conflict of interest. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: 16p11.2 deletion syndrome (16p11.2DS) is a recurrent CNV that occurs de novo in approximately 70% of cases and confers risk for neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorders (ASD). The current study focusses on developmental milestones, cognitive profiles and longitudinal cognitive trajectories. METHODS: In-person assessments, digital medical records and parental interviews on developmental history of 24 children (5-16 years) with a confirmed BP4-BP5 16p11.2DS were reviewed and analysed for developmental milestones (motor, language, continence). Standardised intelligence tests were administered in all children, and longitudinal IQ-data were available for a subgroup (79%, 19/24). RESULTS: Motor, language, and continence milestones were delayed. Average IQ was in the borderline range (IQ 71) with 46% (11/24) having borderline IQ (IQ 70-84). Both intra- and interindividual variability were found across the five cognitive domains with significant discrepancies between verbal and non-verbal skills in 55% (11/20). Longitudinal IQ-data indicate that school-aged children with 16p11.2DS perform statistically significantly lower at the second time point (p < 0.001) with 58% showing a growing into deficit trajectory. CONCLUSION: Delayed motor, language and continence milestones are common in 16p11.2DS carriers. School-aged children with 16p11.2DS show increasing cognitive impairments over time, pointing to the need for early diagnosis, regular cognitive follow-up and individualised intervention. The high prevalence of disharmonic IQ-profiles highlights the importance of expanding the focus beyond full-scale IQ (FSIQ) outcomes. Future studies in larger cohorts including carrier relatives are needed to gain more insight into the penetrance and phenotypic variability of 16p11.2DS. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-025-09615-7 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 |
in Journal of Neurodevelopmental Disorders > 17 (2025)
[article] Developmental milestones and cognitive trajectories in school-aged children with 16p11.2 deletion [texte imprimé] / Jente VERBESSELT, Auteur ; Jeroen BRECKPOT, Auteur ; Inge ZINK, Auteur ; Ann SWILLEN, Auteur. Langues : Anglais ( eng) in Journal of Neurodevelopmental Disorders > 17 (2025)
| Mots-clés : |
Humans Child Adolescent Female Male Chromosomes, Human, Pair 16/genetics Child, Preschool Intellectual Disability/physiopathology/genetics Longitudinal Studies Chromosome Deletion Chromosome Disorders/physiopathology/complications/genetics Intelligence Cognition/physiology Child Development/physiology Developmental Disabilities/genetics/physiopathology Fecal Incontinence/physiopathology Intelligence Tests Autistic Disorder 16p11.2 deletion syndrome Cognition Copy number variants Deep phenotyping Developmental trajectories Early development in accordance with the Declaration of Helsinki and approved by the Ethics Committee Research of University Hospitals Leuven (protocol code S54485, 6 December 2012 and 26 March 2021). Patients and their parents were directly informed about the aims of the research project, and all participants signed informed consent. Consent for publication: Not applicable. Competing interests: The authors declare no conflict of interest. |
| Index. décimale : |
PER Périodiques |
| Résumé : |
BACKGROUND: 16p11.2 deletion syndrome (16p11.2DS) is a recurrent CNV that occurs de novo in approximately 70% of cases and confers risk for neurodevelopmental disorders, including intellectual disability (ID) and autism spectrum disorders (ASD). The current study focusses on developmental milestones, cognitive profiles and longitudinal cognitive trajectories. METHODS: In-person assessments, digital medical records and parental interviews on developmental history of 24 children (5-16 years) with a confirmed BP4-BP5 16p11.2DS were reviewed and analysed for developmental milestones (motor, language, continence). Standardised intelligence tests were administered in all children, and longitudinal IQ-data were available for a subgroup (79%, 19/24). RESULTS: Motor, language, and continence milestones were delayed. Average IQ was in the borderline range (IQ 71) with 46% (11/24) having borderline IQ (IQ 70-84). Both intra- and interindividual variability were found across the five cognitive domains with significant discrepancies between verbal and non-verbal skills in 55% (11/20). Longitudinal IQ-data indicate that school-aged children with 16p11.2DS perform statistically significantly lower at the second time point (p < 0.001) with 58% showing a growing into deficit trajectory. CONCLUSION: Delayed motor, language and continence milestones are common in 16p11.2DS carriers. School-aged children with 16p11.2DS show increasing cognitive impairments over time, pointing to the need for early diagnosis, regular cognitive follow-up and individualised intervention. The high prevalence of disharmonic IQ-profiles highlights the importance of expanding the focus beyond full-scale IQ (FSIQ) outcomes. Future studies in larger cohorts including carrier relatives are needed to gain more insight into the penetrance and phenotypic variability of 16p11.2DS. |
| En ligne : |
https://dx.doi.org/10.1186/s11689-025-09615-7 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 |
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