دورية أكاديمية
Motor difficulties in 16p11.2 copy number variation.
| العنوان: | Motor difficulties in 16p11.2 copy number variation. |
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| المؤلفون: | Jutla A; Department of Psychiatry, Columbia University, New York, New York, USA.; New York State Psychiatric Institute, New York, New York, USA., Harvey L; City University of New York School of Medicine, New York, New York, USA., Veenstra-VanderWeele J; Department of Psychiatry, Columbia University, New York, New York, USA.; New York State Psychiatric Institute, New York, New York, USA., Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, New York, USA.; Simons Foundation, New York, New York, USA. |
| المصدر: | Autism research : official journal of the International Society for Autism Research [Autism Res] 2024 May; Vol. 17 (5), pp. 906-916. Date of Electronic Publication: 2024 Apr 25. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101461858 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-3806 (Electronic) Linking ISSN: 19393806 NLM ISO Abbreviation: Autism Res Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Hoboken, NJ : John Wiley & Sons, Inc. |
| مواضيع طبية MeSH: | Chromosomes, Human, Pair 16*/genetics , DNA Copy Number Variations*/genetics , Chromosome Deletion* , Intellectual Disability*/genetics, Humans ; Female ; Male ; Adolescent ; Adult ; Child ; Young Adult ; Chromosome Disorders/genetics ; Chromosome Disorders/physiopathology ; Chromosome Disorders/complications ; Chromosome Duplication/genetics ; Autistic Disorder/genetics ; Phenotype ; Middle Aged ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/physiopathology ; Child, Preschool |
| مستخلص: | The rare genetic variants 16p11.2 duplication and 16p11.2 deletion have opposing effects on brain structure and function, yet are associated with broadly similar clinical phenotypes that include autism, intellectual impairment, psychiatric illness, and motor difficulties. In recent years, studies have identified subtle distinctions between the phenotypic effects of 16p11.2 duplication and 16p11.2 deletion with respect to patterns of autism, intellectual impairment, and psychiatric illness. However, although divergent phenotypic findings in some motor domains have been reported, no study has yet made a comprehensive comparison of motor difficulties between 16p11.2 deletion and 16p11.2 duplication carriers to elucidate points of convergence and divergence. We sought to make such a comparison in a group of 133 16p11.2 deletion carriers, 122 duplication carriers, and 388 familial controls, hypothesizing that motor impairment would overall be greater in deletion than duplication carriers. In a series of regression models, we found that 16p11.2 deletion status tended to predict greater impairment along indices of gross motor function, but less impairment along indices of fine motor function. These findings point to a potential pattern of performance difficulties that could be investigated in future studies. Elucidating motor differences between 16p11.2 duplication and 16p11.2 deletion carriers may help in understanding the complex effect of 16p11.2 copy number variation and other rare genetic causes of autism. (© 2024 International Society for Autism Research and Wiley Periodicals LLC.) |
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| معلومات مُعتمدة: | 2T32MH01643441 United States MH NIMH NIH HHS; 2T32MH01643441 United States MH NIMH NIH HHS |
| فهرسة مساهمة: | Keywords: 16p11.2 deletion syndrome; DNA copy number variations; autism Spectrum disorder; human genetics; motor skills; movement; phenotype |
| SCR Disease Name: | 16p11.2 Deletion Syndrome |
| تواريخ الأحداث: | Date Created: 20240425 Date Completed: 20240517 Latest Revision: 20240517 |
| رمز التحديث: | 20240517 |
| DOI: | 10.1002/aur.3132 |
| PMID: | 38660979 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1939-3806 |
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| DOI: | 10.1002/aur.3132 |