Behavioral and cognitive functioning in individuals with Cantú syndrome

Cantú syndrome (CS) is caused by pathogenic variants in ABCC9 and KCNJ8 encoding the regulatory and pore‐forming subunits of ATP‐sensitive potassium (KATP) channels. CS is characterized by congenital hypertrichosis, distinctive facial features, peripheral edema, and cardiac and neurodevelopmental ab...

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Vydáno v:	American journal of medical genetics. Part A Ročník 185; číslo 8; s. 2434 - 2444
Hlavní autoři:	Roessler, Helen I., Heuvel, Lieke M., Shields, Kathleen, Guilliams, Kristin P., Knoers, Nine V. A. M., Haaften, Gijs, Grange, Dorothy K., Haelst, Mieke M.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Hoboken, USA John Wiley & Sons, Inc 01.08.2021 Wiley Subscription Services, Inc
Témata:	Adolescent Adult Aged Alleles Anxiety Attention deficit hyperactivity disorder Autism Behavior Cantu syndrome Cantú syndrome Cardiomegaly - diagnosis Cardiomegaly - genetics Child Child, Preschool Cognition Cognitive ability DSM V Edema Emotions Female Genetic Association Studies Genetic Predisposition to Disease Humans Hypertrichosis Hypertrichosis - diagnosis Hypertrichosis - genetics Infant Intelligence Intelligence tests Male Middle Aged Mutation Neurodevelopmental disorders Osteochondrodysplasias - diagnosis Osteochondrodysplasias - genetics Phenotype Potassium channels psychiatric symptoms Sulfonylurea Receptors Young Adult DSM V Cantú syndrome psychiatric symptoms behavior autism intelligence
ISSN:	1552-4825, 1552-4833, 1552-4833
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Popis
Shrnutí:	Cantú syndrome (CS) is caused by pathogenic variants in ABCC9 and KCNJ8 encoding the regulatory and pore‐forming subunits of ATP‐sensitive potassium (KATP) channels. CS is characterized by congenital hypertrichosis, distinctive facial features, peripheral edema, and cardiac and neurodevelopmental abnormalities. Behavioral and cognitive issues have been self‐reported by some CS individuals, but results of formal standardized investigations have not been published. To assess the cognitive profile, social functioning, and psychiatric symptoms in a large group of CS subjects systematically in a cross‐sectional manner, we invited 35 individuals (1–69 years) with confirmed ABCC9 variants and their relatives to complete various commonly applied standardized age‐related questionnaires, including the Kaufman brief intelligence test 2, the social responsiveness scale‐2, and the Achenbach system of empirically based assessment. The majority of CS individuals demonstrated average verbal and nonverbal intelligence compared to the general population. Fifteen percent of cases showed social functioning strongly associated with a clinical diagnosis of autism spectrum disorder. Both externalizing and internalizing problems were also present in this cohort. In particular, anxiety, anxiety or attention deficit hyperactivity disorder, and autism spectrum behaviors were predominantly observed in the younger subjects in the cohort (≥25%), but this percentage decreased markedly in adults.
Bibliografie:	Funding information E‐Rare Joint Transnational Cantú Treat program, Grant/Award Number: I‐2101‐B26; NIH R21, Grant/Award Number: HD103347 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 Research clinic activities were coordinated by HIR, KS, KPG, DKG, and MMvH. HIR and MMvH designed the study and formulated the research question. Evaluation and analysis of questionnaires was performed by HIR and KS. HIR wrote the initial manuscript draft and MMvH reviewed and revised the manuscript. LMvdH, KPG, NVAMK, GvH, and DKG critically reviewed the manuscript. GvH and DKG provided funding acquisition. Author contributions statement
ISSN:	1552-4825 1552-4833 1552-4833
DOI:	10.1002/ajmg.a.62348