Motor difficulties in 16p11.2 copy number variation.

Jutla, Amandeep; Harvey, Loraine; Veenstra-VanderWeele, Jeremy; Chung, Wendy K

Jutla, Amandeep; Harvey, Loraine; Veenstra-VanderWeele, Jeremy; Chung, Wendy K.

Afiliación

Jutla A; Department of Psychiatry, Columbia University, New York, New York, USA.
Harvey L; New York State Psychiatric Institute, New York, New York, USA.
Veenstra-VanderWeele J; City University of New York School of Medicine, New York, New York, USA.
Chung WK; Department of Psychiatry, Columbia University, New York, New York, USA.

Autism Res ; 17(5): 906-916, 2024 05.

Article en En | MEDLINE | ID: mdl-38660979

ABSTRACT

ABSTRACT

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.

Asunto(s)

Deleción Cromosómica; Cromosomas Humanos Par 16; Variaciones en el Número de Copia de ADN; Discapacidad Intelectual; Humanos; Cromosomas Humanos Par 16/genética; Variaciones en el Número de Copia de ADN/genética; Femenino; Masculino; Adolescente; Discapacidad Intelectual/genética; Adulto; Niño; Adulto Joven; Trastornos de los Cromosomas/genética; Trastornos de los Cromosomas/fisiopatología; Trastornos de los Cromosomas/complicaciones; Duplicación Cromosómica/genética; Trastorno Autístico/genética; Fenotipo; Persona de Mediana Edad; Trastorno del Espectro Autista/genética; Trastorno del Espectro Autista/fisiopatología; Preescolar

Palabras clave

16p11.2 deletion syndrome; DNA copy number variations; autism Spectrum disorder; human genetics; motor skills; movement; phenotype

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 16 / Deleción Cromosómica / Variaciones en el Número de Copia de ADN / Discapacidad Intelectual Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Autism Res Asunto de la revista: PSIQUIATRIA / TRANSTORNOS MENTAIS Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos

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