Genetic and Environmental Influences on Developmental Milestones and Movement: Results From the Gemini Cohort Study

Smıth, Lee; Jaarsveld, Cornelia H M van; Llewellyn, Clare; Fildes, Alison; Sánchez, Guillermo Felipe López; Wardle, Jane; Fisher, Abigail

doi:10.1080/02701367.2017.1373268

Cited by 13 publications

(16 citation statements)

References 31 publications

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“…Nevertheless, these mutations would not account for all the patient's extraocular phenotypes, such as developmental delay and GI disturbance. Developmental delay is multifactorial and may be explained by an additional unknown genetic variant or environmental factor ( Smith et al 2017 ). Further, we did not account for potential copy-number variants (CNVs) or gene deletions, which are known to contribute to a large percentage of hearing loss and developmental delay cases ( Cooper et al 2011 ; Perry et al 2014 ; Shearer et al 2014 ; Hladilkova et al 2015 ).…”

Section: Discussionmentioning

confidence: 99%

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay

Vélez

Bassuk

Schaefer

et al. 2018

Cold Spring Harb Mol Case Stud

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Mutations that activate the protease calpain-5 (CAPN5) cause a nonsyndromic adult-onset autoinflammatory eye disease characterized by uveitis, altered synaptic signaling, retinal degeneration, neovascularization, and intraocular fibrosis. We describe a pediatric patient with severe inflammatory vitreoretinopathy accompanied by hearing loss and developmental delay associated with a novel, de novo CAPN5 missense mutation (c.865C>T, p.Arg289Trp) that shows greater hyperactivation of the calpain protease, indicating a genotype–phenotype correlation that links mutation severity to proteolytic activity and the possibility of earlier onset syndromic disease with auditory and neurological abnormalities.

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Section: Discussionmentioning

confidence: 99%

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay

Vélez

Bassuk

Schaefer

et al. 2018

Cold Spring Harb Mol Case Stud

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“…CFA for the CEBQ-T-Mex using the original six factor version of the CEBQ-T [ 10 , 15 ] showed an adequate validity (RMSEA = 0.07) [ 30 ]. Based on the study of 2402 twin pairs born in England and Wales in 2007, who first completed the BEBQ and years later the CEBQ, Herle analyzed through structural equation modelling the heritability of Emotional Overeating and found it to be very low, specifically influenced by the environment in which the child develops, mainly by parents [ 16 ].…”

Section: Discussionmentioning

confidence: 99%

“…Certain eating behavior dimensions have been associated with the development of overweight and obesity, as well as failure to thrive [ 6 ]. These can be described as genetic predispositions towards foods that interact with the environment to influence eating and weight gain [ 7 ], known as appetitive traits [ 8 , 9 , 10 ]. The Behavioral Susceptibility Theory (BST), proposes that there are both genetic and environmental risks that determine the responsiveness of each individual to opportunities to eat, measured through appetitive traits [ 11 , 12 ].…”

Section: Introductionmentioning

confidence: 99%

“…The Behavioral Susceptibility Theory (BST), proposes that there are both genetic and environmental risks that determine the responsiveness of each individual to opportunities to eat, measured through appetitive traits [ 11 , 12 ]. The proclivity towards a greater or lower response to food or satiety sensitivity could lead each individual to increase their weight, or to not gain weight if they have a poorer appetite, from an early age [ 6 , 9 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

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Validity and Reliability of the Baby and Child Eating Behavior Questionnaire, Toddler Version (BEBQ-Mex and CEBQ-T-Mex) in a Low Sociodemographic Sample Recruited in a Mexican Hospital

Hunot‐Alexander

González-Toribio

Vásquez‐Garibay

et al. 2021

Behavioral Sciences

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The objective of this study was to validate and measure the internal reliability of the Baby and Child Eating Behavior Questionnaires for Toddlers (BEBQ-Mex and CEBQ-T-Mex), that evaluate appetitive trait (ATs). Mothers recruited from a public hospital in Guadalajara, Mexico, completed the BEBQ-Mex or CEBQ-T-Mex along with information on sociodemographic characteristics. Internal reliability of the BEBQ-Mex was sufficient for Food Responsiveness (FR) (Cronbach α = 0.82), while Enjoyment of Food (EF) and Satiety Responsiveness (SR) showed poor reliability (α = 0.56) and Slowness in Eating (SE) had unacceptable reliability (a = 0.36). All reliability values for the CEBQ-T-Mex were acceptable (>0.70), except for SE (α = 0.64). Confirmatory factor analysis (CFA) revealed an adequate model fit for the BEBQ-Mex, except the SE subscale. CFA for the CEBQ-T-Mex confirmed the six-factor structure. Mothers of a low sociodemographic background were unable to recognize their infants’ ATs; the BEBQ-Mex partly met the criteria for validity and reliability. Mothers from similar sociodemographic characteristics were more able to recognize the ATs of their toddlers than their infants; the CEBQ-T-Mex was found to be a valid and reliable tool. Findings support the need to help mothers’ ability to recognize their infants’ ATs, which have been previously associated with weight and growth.

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“…Studies have shown that in the early years of a child’s life, caregivers play an essential role in improving motor development in young children by being role models and by providing opportunities for movement, encouragement and support [ 14 , 15 , 16 , 17 , 18 ], as well as by reducing inappropriate behaviour, such as understimulation or passivity [ 18 , 19 ]. For example, one study shows that infants spend too much time on their backs in car seats, strollers and similar restrictive devices [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

Interventions by Caregivers to Promote Motor Development in Young Children, the Caregivers’ Attitudes and Benefits Hereof: A Scoping Review

Pedersen

Hansen

2022

IJERPH

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In the first year of life, the child’s caregivers, including parents and daycare staff, play an essential role, as they are responsible for implementing daily activities to promote the motor development of young children. However, what does the research show about interventions to promote the motor development of 0–36-month-olds carried out by the child’s caregivers, and what are the caregivers’ experiences and attitudes hereof? This scoping review aims to provide an overview of the published studies to derive an overall interpretation. A systematic search was conducted in five scientific databases, resulting in 10,219 articles, of which 9 met the inclusion criteria. The results indicate that providing early intervention to 0–36-month-old children, in which the caregivers carry out the activities, promotes the young child’s motor development. Furthermore, the interventions increase the caregivers’ interest and motivation to promote the young child’s motor development, which is essential in maintaining the behaviour after the end of the interventions. Supervision and guidance provided for the child’s caregivers concerning knowledge and skills about age-appropriate behaviours and facilitation of their child’s motor development increases the caregivers’ self-confidence, interest, and motivation.

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Genetic and Environmental Influences on Developmental Milestones and Movement: Results From the Gemini Cohort Study

Cited by 13 publications

References 31 publications

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay

A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay

Validity and Reliability of the Baby and Child Eating Behavior Questionnaire, Toddler Version (BEBQ-Mex and CEBQ-T-Mex) in a Low Sociodemographic Sample Recruited in a Mexican Hospital

Interventions by Caregivers to Promote Motor Development in Young Children, the Caregivers’ Attitudes and Benefits Hereof: A Scoping Review

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