Exploring a neurogenic basis of velopharyngeal dysfunction in Tbx1 mutant mice: No difference in volumes of the nucleus ambiguus

Spruijt, Nicole E; Rana, M. Sameer; Christoffels, Vincent M.; Molen, Aebele B. Mink van der

doi:10.1016/j.ijporl.2013.03.032

Cited by 3 publications

(1 citation statement)

References 77 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is, however, unlikely that Tbx1 heterozygous pups emit atypical call sequences entirely due to anatomical abnormalities. First, Tbx1 heterozygous pups, unlike homozygous pups, do not have cleft palate 30 or abnormality in the nucleus ambiguous (the origin of the vagus nerve), which controls the larynx 48 . Second, Tbx1 heterozygous pups are capable of emitting all call types with a normal pitch and amplitude, but simply emit fewer, shorter calls (see Figure 1a and Supplementary Figure S1 ).…”

Section: Discussionmentioning

confidence: 99%

Structure and function of neonatal social communication in a genetic mouse model of autism

et al. 2015

View full text Add to dashboard Cite

A critical step toward understanding autism spectrum disorder (ASD) is to identify both genetic and environmental risk factors. A number of rare copy number variants (CNVs) have emerged as robust genetic risk factors for ASD, but not all CNV carriers exhibit ASD and the severity of ASD symptoms varies among CNV carriers. Although evidence exists that various environmental factors modulate symptomatic severity, the precise mechanisms by which these factors determine the ultimate severity of ASD are still poorly understood. Here, using a mouse heterozygous for Tbx1 (a gene encoded in 22q11.2 CNV), we demonstrate that a genetically-triggered neonatal phenotype in vocalization generates a negative environmental loop in pup-mother social communication. Wild-type pups used individually diverse sequences of simple and complicated call types, but heterozygous pups used individually invariable call sequences with less complicated call types. When played back, representative wild-type call sequences elicited maternal approach, but heterozygous call sequences were ineffective. When the representative wild-type call sequences were randomized, they were ineffective in eliciting vigorous maternal approach behavior. These data demonstrate that an ASD risk gene alters the neonatal call sequence of its carriers and this pup phenotype in turn diminishes maternal care through atypical social communication. Thus, an ASD risk gene induces, through atypical neonatal call sequences, less than optimal maternal care as a negative neonatal environmental factor.

show abstract

Section: Discussionmentioning

confidence: 99%

Structure and function of neonatal social communication in a genetic mouse model of autism

et al. 2015

View full text Add to dashboard Cite

show abstract

Embryonic development in 22q11.2 deletion syndrome

Ivins¹,

Scambler²

2022

The Chromosome 22q11.2 Deletion Syndrome

View full text Add to dashboard Cite

Maternal approach behaviors toward neonatal calls are impaired by mother’s experiences of raising pups with a risk gene variant for autism

Kato

Machida

Nomoto

et al. 2020

Preprint

View full text Add to dashboard Cite

How the intrinsic sequence structure of neonatal mouse pup ultrasonic vocalization (USV) and maternal experiences determine maternal behaviors in mice is poorly understood. Our previous work showed that pups with a Tbx1 heterozygous (HT) mutation, a genetic risk for autism spectrum disorder (ASD), emit altered call sequences that do not induce maternal approach behaviors in C57BL6/J mothers. Here, we tested how maternal approach behaviors induced by wild-type and HT USVs are influenced by the mother's experience in raising pups of these two genotypes. The results showed that wild-type USVs were effective in inducing maternal approach behaviors when mothers raised wild-type but not HT pups. The USVs of HT pups were ineffective regardless of whether mothers raised HT or wild-type pups. However, the sequence structure of pup USVs had no effect on the general, non-directional incentive motivation of maternal behaviors. Our data show how the mother's experience with a pup with a genetic risk for ASD alters the intrinsic incentive values of USV sequences in maternal approach behaviors.

show abstract

Exploring a neurogenic basis of velopharyngeal dysfunction in Tbx1 mutant mice: No difference in volumes of the nucleus ambiguus

Abstract: Based on the histology, there is no difference or variability between the volumes of the nucleus ambiguus of Tbx1 heterozygous and wild type mice. The etiology of velopharyngeal hypotonia and variable speech in children with 22q11.2 deletion syndrome warrants further investigation.

Cited by 3 publications

References 77 publications

Structure and function of neonatal social communication in a genetic mouse model of autism

Structure and function of neonatal social communication in a genetic mouse model of autism

Embryonic development in 22q11.2 deletion syndrome

Maternal approach behaviors toward neonatal calls are impaired by mother’s experiences of raising pups with a risk gene variant for autism

Contact Info

Product

Resources

About