Affective touch in infancy

Social touch is ubiquitous in caregiver-infant interactions. Research on animal models and preterm human infants has shown that touch is critical for a young organism’s physical and psychological growth. However, the role that social interaction through touch plays in the development of typically developing human infants is poorly understood. The research presented in this thesis investigated neural specialization for social touch and the mechanisms through which social touch might promote early development. I focus on a particular type of touch, slow velocity stroking, shown to activate a particular type of skin fibers in human adults, the CT-fibers, and to elicit affective responses (henceforth affective touch). Research presented here investigated cortical activation and autonomic responses to affective touch, during the first year of life. Firstly, in experiments 1 through 4 functional Near Infrared Spectroscopy (fNIRS) was employed to measure haemodynamic responses to affective and non-affective touch over inferior frontal and temporal cortices. Experiments 1, 2 and 3 used three different non-affective stimuli and revealed that specialization to affective touch in key nodes of the social brain has not developed yet in 5 to 7-months-old infants. Results from Experiment 4 suggest that this specialization emerges near the end of the first year of life (10-montholds). Secondly, in experiments 5 and 6 heart rate changes to affective and nonaffective touch were measured in three different age-groups (2, 7 and 9-monthold). Results revealed that infants in neither group displayed differential responses to the touch stimuli. Further, experiment 5 explored whether affective touch modulates visual attention but an effect was not found. Taken together these findings showed that preferential processing of affective touch is not evident during early development, at least when investigating neural and autonomic responses. In all my studies, I strived to present tactile stimuli in the absence of other social cues, thus ensuring that any effects would have been specific to touch. In the final discussion I suggest that the lack of context might have prevented infants from identifying affective touch. I also discuss the possibility that other forms of inter-personal touch, and not CT-targeted touch, may be critical in early human development, and should be investigated in future research

Affective touch in infancy

Social touch is ubiquitous in caregiver-infant interactions. Research on animal models and preterm human infants has shown that touch is critical for a young organism’s physical and psychological growth. However, the role that social interaction through touch plays in the development of typically developing human infants is poorly understood. The research presented in this thesis investigated neural specialization for social touch and the mechanisms through which social touch might promote early development. I focus on a particular type of touch, slow velocity stroking, shown to activate a particular type of skin fibers in human adults, the CT-fibers, and to elicit affective responses (henceforth affective touch). Research presented here investigated cortical activation and autonomic responses to affective touch, during the first year of life. Firstly, in experiments 1 through 4 functional Near Infrared Spectroscopy (fNIRS) was employed to measure haemodynamic responses to affective and non-affective touch over inferior frontal and temporal cortices. Experiments 1, 2 and 3 used three different non-affective stimuli and revealed that specialization to affective touch in key nodes of the social brain has not developed yet in 5 to 7-months-old infants. Results from Experiment 4 suggest that this specialization emerges near the end of the first year of life (10-montholds). Secondly, in experiments 5 and 6 heart rate changes to affective and nonaffective touch were measured in three different age-groups (2, 7 and 9-monthold). Results revealed that infants in neither group displayed differential responses to the touch stimuli. Further, experiment 5 explored whether affective touch modulates visual attention but an effect was not found. Taken together these findings showed that preferential processing of affective touch is not evident during early development, at least when investigating neural and autonomic responses. In all my studies, I strived to present tactile stimuli in the absence of other social cues, thus ensuring that any effects would have been specific to touch. In the final discussion I suggest that the lack of context might have prevented infants from identifying affective touch. I also discuss the possibility that other forms of inter-personal touch, and not CT-targeted touch, may be critical in early human development, and should be investigated in future research

Age-specific effects of estrogen receptors' polymorphisms on the bone traits in healthy fertile women: the BONTURNO study

<p>Abstract</p> <p>Background</p> <p>Skeletal characteristics such as height (Ht), bone mineral density (BMD) or bone turnover markers are strongly inherited. Common variants in the genes encoding for estrogen receptor alpha (ESR1) and beta (ESR2) are proposed as candidates for influencing bone phenotypes at the population level.</p> <p>Methods</p> <p>We studied 641 healthy premenopausal women aged 20–50 years (yrs) participating into the BONTURNO study. Exclusion criteria were irregular cyclic menses, low trauma fracture, metabolic bone or chronic diseases. Serum C-telopeptide of type I collagen (CTX), osteocalcin (OC), and N-terminal propeptide of type I procollagen (P1NP) were measured in all enrolled subjects, who underwent to lumbar spine (LS), total hip (TH) and femoral neck (FN) BMD evaluation by DXA. Five hundred seventy Caucasian women were genotyped for ESR1 rs2234693 and rs9340799 and ESR2 rs4986938 polymorphisms.</p> <p>Results</p> <p>Although no genotype differences were found in body parameters, subjects with combined ESR1 CCGG plus ESR2 AA-AG genotype were taller than those with opposite genotype (P = 0.044). Moreover, ESR1 rs2234693 genotypes correlated with family history of osteoporosis (FHO) and hip fracture (FHF) (P < 0.01), while ESR2 AA-AC genotypes were strongly associated with FHF (OR 2.387, 95% CI 1.432–3.977; P < 0.001).</p> <p>When clustered by age, 20–30 yrs old subjects, having at least one ESR1 rs2234693 C allele presented lower LS- (P = 0.008) and TH-BMD (P = 0.047) than TT genotypes. In 41–50 yrs age, lower FN-BMD was associated with ESR2 AA (P = 0.0180) subjects than in those with the opposite genotype. ESR1 rs2234693 and rs9340799 and ESR2 rs4986938 polymorphisms did not correlate with age-adjusted values of OC, CTX and P1NP.</p> <p>Conclusion</p> <p>These findings support the presence of age-specific effects of ESR1 and ESR2 polymorphisms on various skeletal traits in healthy fertile women.</p

Comparative analysis between saliva and buccal swabs as source of DNA: lesson from HLA-B*57:01 testing

Aim: Our work aimed to designate the optimal DNA source for pharmacogenetic assays, such as the screening for HLA-B*57:01 allele. Materials & methods: A saliva and four buccal swab samples were taken from 104 patients. All the samples were stored at different time and temperature conditions and then genotyped for the HLA-B*57:01 allele by SSP-PCR and classical/capillary electrophoresis. Results: The genotyping analysis reported different performance rates depending on the storage conditions of the samples. Given our results, the buccal swab demonstrated to be more resistant and stable in time with respect to the saliva. Conclusion: Our investigation designates the buccal swab as the optimal DNA source for pharmacogenetic assays in terms of resistance, low infectivity, low-invasiveness and easy sampling, and safe transport in centralized medical centers providing specialized pharmacogenetic tests

Holocene evolution of a barrier island system, Ria Formosa, South Portugal

Holocene evolution of the Ria Formosa barrier island system was studied through the examination of a large subsurface dataset acquired from 191 boreholes and five seismic refraction profiles. Two boreholes with total depths of 26 and 16.5 m were selected for a multi-proxy detailed laboratory analysis, including mean grain size distribution, organic matter (OM) content, color variation, shell identification, and benthic foraminifera assemblages. Selected cores are thought to be representative of the identified depositional sub-basins. Subsurface age data from 16 AMS C-14 dated samples were plotted against depth and resulted in a coherent age model of sedimentary infill. The system evolution was largely controlled by sediment availability, accommodation space, and Holocene sea level rise, first at a rapid rate of 7 mm/yr from 10 kcal yr BP to 7.25 kcal yr BP, followed by a slowdown to 1.1 mm/yr until present. A conceptual model for the origin and Holocene evolution of the Ria Formosa barrier island system implies three main steps, leading to the present system geomorphology: (1) marine flooding of incised palaeovalleys by the rapid transgression of palaeovalleys in the early Holocene(2) development of a proto-barrier island chain perched on Pleistocene detritic headlands and steeper interfluve areas during the early to middle Holoceneand (3) full development of the barrier islands chain and enclosing of the coastal lagoon, followed by the maturation of the system with subsequent siltation and salt marsh expansion from the middle Holocene until present. The onset of barrier system formation dates back to ca. 8 kcal yr BP, predating previously proposed age.SIHER project [PTDC/CTE-GIX112236/2009]EU Erasmus Mundus Joint Doctorate in Marine and Coastal Management (MACOMA) fellowship grant, under University of AlgarveEU Erasmus Mundus Joint Doctorate in Marine and Coastal Management (MACOMA) fellowship grant, under University of Cadi

Behavioural and neural markers of tactile sensory processing in infants at elevated likelihood of autism spectrum disorder and/or attention deficit hyperactivity disorder

Abstract: Backgrounds: Atypicalities in tactile processing are reported in autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) but it remains unknown if they precede and associate with the traits of these disorders emerging in childhood. We investigated behavioural and neural markers of tactile sensory processing in infants at elevated likelihood of ASD and/or ADHD compared to infants at typical likelihood of the disorders. Further, we assessed the specificity of associations between infant markers and later ASD or ADHD traits. Methods: Ninety-one 10-month-old infants participated in the study (n = 44 infants at elevated likelihood of ASD; n = 20 infants at elevated likelihood of ADHD; n = 9 infants at elevated likelihood of ASD and ADHD; n = 18 infants at typical likelihood of the disorders). Behavioural and EEG responses to pairs of tactile stimuli were experimentally recorded and concurrent parental reports of tactile responsiveness were collected. ASD and ADHD traits were measured at 24 months through standardized assessment (ADOS-2) and parental report (ECBQ), respectively. Results: There was no effect of infants’ likelihood status on behavioural markers of tactile sensory processing. Conversely, increased ASD likelihood associated with reduced neural repetition suppression to tactile input. Reduced neural repetition suppression at 10 months significantly predicted ASD (but not ADHD) traits at 24 months across the entire sample. Elevated tactile sensory seeking at 10 months moderated the relationship between early reduced neural repetition suppression and later ASD traits. Conclusions: Reduced tactile neural repetition suppression is an early marker of later ASD traits in infants at elevated likelihood of ASD or ADHD, suggesting that a common pathway to later ASD traits exists despite different familial backgrounds. Elevated tactile sensory seeking may act as a protective factor, mitigating the relationship between early tactile neural repetition suppression and later ASD traits

Atypical Development of Attentional Control Associates with Later Adaptive Functioning, Autism and ADHD Traits

Funder: H2020 European Research Council; doi: http://dx.doi.org/10.13039/100010663Funder: Research Foundation FlandersFunder: Universiteit Gent; doi: http://dx.doi.org/10.13039/501100004385Funder: Marguerite-Marie DelacroixFunder: Autistica; doi: http://dx.doi.org/10.13039/100011706Funder: Riksbankens Jubileumsfond; doi: http://dx.doi.org/10.13039/501100004472; Grant(s): NHS14-1802:1Funder: K.F. Hein FondsFunder: Scott Family Junior Research FellowshipAbstract: Autism is frequently associated with difficulties with top-down attentional control, which impact on individuals’ mental health and quality of life. The developmental processes involved in these attentional difficulties are not well understood. Using a data-driven approach, 2 samples (N = 294 and 412) of infants at elevated and typical likelihood of autism were grouped according to profiles of parent report of attention at 10, 15 and 25 months. In contrast to the normative profile of increases in attentional control scores between infancy and toddlerhood, a minority (7–9%) showed plateauing attentional control scores between 10 and 25 months. Consistent with pre-registered hypotheses, plateaued growth of attentional control was associated with elevated autism and ADHD traits, and lower adaptive functioning at age 3 years

Recommendations for motion correction of infant fNIRS data applicable to data sets acquired with a variety of experimental designs and acquisition systems

Despite motion artifacts are a major source of noise in fNIRS infant data, how to approach motion correction in this population has only recently started to be investigated. Homer2 offers a wide range of motion correction methods and previous work on simulated and adult data suggested the use of Spline interpolation and Wavelet filtering as optimal methods for the recovery of trials affected by motion. However, motion artifacts in infant data differ from those in adults' both in amplitude and frequency of occurrence. Therefore, artifact correction recommendations derived from adult data might not be the optimal for infant data. We hypothesized that the combined use of Spline and Wavelet would outperform their individual use on data with complex profiles of motion artifacts. To demonstrate this, we first compared, on infant semi-simulated data, the performance of several motion correction techniques on their own and of the novel combined approach; then, we investigated the performance of Spline and Wavelet alone and in combination on real cognitive data from three datasets collected with infants of different ages (5, 7 and 10 months), with different tasks (auditory/visual and tactile) and with different NIRS systems. To quantitatively estimate and compare the efficacy of these techniques, we adopted four metrics: hemodynamic response recovery error, within-subject standard deviation, between-subjects standard deviation and number of trials that survived each correction method. Our results demonstrated that (i) it is always better correcting for motion artifacts than rejecting the corrupted trials; (ii) Wavelet filtering on its own and in combination with Spline interpolation seems to be the most effective approach in reducing the between- and the within-subject standard deviations. Importantly, the combination of Spline and Wavelet was the approach providing the best performance in semi-simulation both at low and high levels of noise, also recovering most of the trials affected by motion artifacts across all datasets, a crucial result when working with infant data. [Abstract copyright: Copyright © 2019. Published by Elsevier Inc.

Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I

Abstract: Background: Sensory modulation difficulties are common in children with conditions such as Autism Spectrum Disorder (ASD) and could contribute to other social and non-social symptoms. Positing a causal role for sensory processing differences requires observing atypical sensory reactivity prior to the emergence of other symptoms, which can be achieved through prospective studies. Methods: In this longitudinal study, we examined auditory repetition suppression and change detection at 5 and 10 months in infants with and without Neurofibromatosis Type 1 (NF1), a condition associated with higher likelihood of developing ASD. Results: In typically developing infants, suppression to vowel repetition and enhanced responses to vowel/pitch change decreased with age over posterior regions, becoming more frontally specific; age-related change was diminished in the NF1 group. Whilst both groups detected changes in vowel and pitch, the NF1 group were largely slower to show a differentiated neural response. Auditory responses did not relate to later language, but were related to later ASD traits. Conclusions: These findings represent the first demonstration of atypical brain responses to sounds in infants with NF1 and suggest they may relate to the likelihood of later ASD