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Background: Siblings, typically developing brothers and sisters of children with neurodevelopmental disorders (NDD), are at risk for long-term psychosocial difficulties., Objective: The present study aims at obtaining an in-depth insight on the lived experience of siblings of children with NDD through their parents' perspective., Methods: Seven mothers and three fathers who signed up their sibling children (12-15 years) to a peer-support intervention participated in a semi-structured videoconference interview according to the Interpretative Phenomenological Analysis (IPA) qualitative approach. Interviews were conducted by trained personnel and independently coded., Results: Thematic analysis highlighted three core themes and twelve sub-themes: "The complexity of the fraternal relationship" (three sub-themes), "Growing up with diversity" (six sub-themes), and "Me as a sibling" (three sub-themes)., Conclusions: The study provides insight on parents' perception of the lived experience of their sibling children, thus spreading awareness on the everyday difficulties families with a child with NDD may encounter., What This Paper Adds: The present study contributes to the scarce literature on the lived experience of siblings of children with NDD, and notably it is one of the few qualitative studies on the topic which makes use of an IPA interviewing style. This methodological choice allowed for an in-depth understanding of siblings' strengths and struggles as perceived by their own parents, and of how their brother/sister's condition impacted on their family role, socio-emotional development and personality. Recounting siblings' experiences contributes in spreading awareness on the everyday difficulties siblings and their families face when cohabitating with a child with NDD., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

The co-regulation of the hypothalamic-pituitary-adrenal (HPA) axis in mother-infant dyads is thought to be key for infant and child development. Nonetheless, previous literature presents some inconsistencies that might at least partially be due to the presence of risk conditions and the use of different statistical approaches to measure HPA axis co-regulation. Very preterm (VPT) birth represents one of these risk conditions as the early foundation of mother-infant interaction is disrupted. Both VPT infants and their mothers present evidence of altered HPA axis regulation. Nonetheless, the comparison of mother-infant HPA axis co-regulation in VPT infants compared to full-term (FT) ones has not been previously investigated. In this study, 3-month-old (corrected age) VPT infants and FT counterparts with their mothers took part in a well-validated stress-inducing laboratory task (i.e., double Face-to-Face Still-Face, FFSF paradigm). Salivary cortisol samples were obtained before (Baseline) and after (Early reactivity, Late reactivity and Recovery) the FFSF procedure. Dyadic HPA axis co-regulation was assessed at each sample time-point (i.e., in-moment coupling) as well as across samples (i.e., in-time synchrony). Significant in-moment coupling emerged at Baseline, Late reactivity and Recovery for FT infants' dyads only. An overlying pattern of salivary cortisol trajectories emerged between mothers and infants in the VPT group, whereas a more complex pattern of reciprocal and complementary co-regulation was found for FT infants' dyads. Although both groups gave evidence of HPA axis co-regulation, dyads of VPT infants appear to be less able to adapt reciprocally and dynamically to stressful conditions. These findings suggest that multiple approaches to account for dyadic HPA axis co-regulation should be used in order to depict the complex pattern of biological rhythms coordination in mother-infant dyads., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

The contribution of cerebellar circuitry alterations in the pathophysiology of Autism Spectrum Disorder (ASD) has been widely investigated in the last decades. Yet, experimental studies on neurocognitive markers of ASD have not been attentively compared with similar studies in patients with cerebellar primary disturbances (e.g., malformations, agenesis, degeneration, etc). Addressing this neglected issue could be useful to underline unexpected areas of overlap and/or underestimated differences between these sets of conditions. In fact, ASD and cerebellar primary disturbances (notably, Cerebellar Cognitive Affective Syndrome, CCAS) can share atypical manifestations in perceptual, sensory, and motor functions, but neural subcircuits involved in these anomalies/difficulties could be distinct. Here, we specifically deal with this issue focusing on four paradigmatic neurocognitive functions: visual and biological motion perception, multisensory integration, and high stages of the motor hierarchy. From a research perspective, this represents an essential challenge to more deeply understand neurocognitive markers of ASD and of cerebellar primary disturbances/CCAS. Although we cannot assume definitive conclusions, and beyond phenotypical similarities between ASD and CCAS, clinical and experimental evidence described in this work argues that ASD and CCAS are distinct phenomena. ASD and CCAS seem to be characterized by different pathophysiological mechanisms and mediated by distinct neural nodes. In parallel, from a clinical perspective, this characterization may furnish insights to tackle the distinction between autistic functioning/autistic phenotype (in ASD) and dysmetria of thought/autistic-like phenotype (in CCAS)., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Representations of own and others' body play a crucial role in social interaction. While extensive knowledge has been gathered on the neuropsychological deficits affecting body representation in adult brain lesion patients, little is known on how acquired damage to a developing brain may affect this process. We tested it on pediatric brain tumor survivors, comparing the abilities of 30 children and adolescents (aged 8-16 years) surviving from a supratentorial tumor (STT) or an infratentorial tumor (ITT) in two different tasks of body representation. Thirty children with typical development (TD) served as control group. In the first task, we tested configural (body inversion effect) and holistic (composite illusion effect) processing of others' bodies. In the second task, we tested the ability to perform first-person and object-based mental spatial transformations of own body and external objects, respectively. Configural processing was spared in all patients. Conversely, ITT, but not STT patients, were impaired in the holistic processing of body stimuli. STT patients performed overall worse than both controls and ITT patients at mental spatial transformations of both own body and external objects. ITT children presented selective alteration in using the first-person transformation strategies with body stimuli. Results suggest that body-representation abilities may be heavily affected in pediatric brain tumor survivors. STTs may be associated to greater difficulties in mental visuo-spatial transformation abilities, likely reflecting damage to fronto-parietal circuits. Conversely, ITTs may be associated to specific disturbances of visual body perception abilities that require motor simulation processes, reflecting direct or indirect damage to cerebellar areas., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Very preterm (VPT) infants (gestational age < 32 weeks) require long-lasting hospitalization in the Neonatal Intensive Care Unit (NICU), even in absence of severe morbidities. During NICU stay, life-saving interventions occur and include invasive and painful skin-breaking procedures (NICU-related stress), which constitute a major early adverse experience for VPT infants. Telomeres are repeat-sequence at the end of chromosomes, which shorten with age and are highly susceptible to life adversities: the exposure to early adverse experiences is associated with shorter telomere length (TL). Nonetheless, previous research did not assess longitudinally the association between NICU-related stress and TL in VPT infants. In the present study, leukocyte TL was assessed from cord blood at birth in 46 VPT infants and in a group of 31 full-term (FT) infants, as well as at NICU discharge in VPTs only. NICU-related stress was measured as the number of skin-breaking procedures occurring throughout the NICU stay. A significant difference emerged for TL between VPT infants and FT counterparts at birth. TL decreased from birth to discharge in VPT infants, although the change was not significant in the group as a whole. The amount of NICU-related stress emerged as the primary predictor of TL erosion in VPT infants, even controlling for neonatal and clinical confounders. Furthermore, VPT infants exposed to high NICU-related stress exhibited a marked and significant decrease in TL, whereas VPT exposed to low NICU-related stress exhibited a non-significant increase. The present study confirms previous evidence of longer telomeres in VPT infants at birth compared to FT controls. Moreover, NICU-related stress emerged as a key regulator of TL erosion from birth to discharge in VPT infants. Future research is warranted to further explore TL erosion in VPT infants and the factors associated with individual differences in NICU-related stress susceptibility at the epigenetic level., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Very preterm (VPT) infants are hospitalized in the Neonatal Intensive Care Unit (NICU) and exposed to varying levels of skin-breaking procedures (pain-related stress), even in absence of severe clinical conditions. Repeated and prolonged pain exposure may alter hypothalamic-pituitary-adrenal (HPA) axis reactivity in VPT infants. During the post-discharge period, altered HPA axis reactivity has been documented in response to non-social stressors, using salivary cortisol as a biomarker. However, little is known about the effects of NICU pain-related stress on subsequent HPA axis reactivity to socio-emotional stress in infants. We examined the relationship between pain-related stress in NICU and HPA axis reactivity (i.e., salivary cortisol reactivity) to an age-appropriate socio-emotional condition in 37 healthy VPT infants compared to 53 full-term (FT) controls. The number of skin-breaking procedures was obtained across NICU stay for VPT infants. At 3 months (corrected age for prematurity), all infants participated in the maternal Face-to-Face Still-Face (FFSF) procedure, in order to assess HPA axis reactivity to socio-emotional stress (i.e., maternal unresponsiveness). VPT infants exhibited a blunted salivary cortisol reactivity, which was associated with the amount of skin-breaking procedures during NICU: greater pain-related stress predicted lower salivary cortisol reactivity, adjusting for neonatal confounders. These findings further advance our knowledge of how early exposure to pain-related stress in NICU contributes to the programming of an altered HPA axis reactivity to socio-emotional stress in 3-month-old VPT infants, even in the absence of major perinatal complications., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

We report the clinical and rehabilitative follow up of M, a female child carrying a compound heterozygous pathogenic mutations in the TCTN1 gene and affected by Joubert Syndrome (JS). JS is a congenital cerebellar ataxia characterized by "the molar tooth sign" on axial MRI, a pathognomonic neuroradiological malformation involving the cerebellum and brainstem. JS presents with high phenotypic/cognitive variability, and little is known about cognitive rehabilitation programs. We describe the therapeutic settings, intensive rehabilitation targets and outcome indexes in M's cognitive development. Using a single case evidence-based approach, we attempt to distinguish the effectiveness of the intervention from the overall developmental trend. We assume that an adequate amount of focused, goal directed treatment in a relative short period of time can be at least as effective as one provided in longer time, and much less interfering with the child's everyday life. We conclude by discussing specific issues in cognitive development and rehabilitation in JS and, more broadly, in cerebellar malformations., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

Background: Parents of very preterm infants are at great risk for experiencing stress and depression. The so called developmental care oriented approach used in Neonatal Intensive Care Units have beneficial effects for parents. However the actual level of developmental care may vary among units and little is known about how the routine adoption of developmental care affects maternal stress and depression., Objectives: To investigate the extent to which level of quality of developmental care routinely carried out in 25 tertiary Neonatal Intensive Care Units across Italy affects maternal stress and depression., Participants: 178 mothers of healthy very preterm infants with gestational age ≤29wk and/or birth weight ≤1500g and without documented neurologic pathologies were recruited consecutively. 180 full-term mothers were recruited as the control group., Methods: To distinguish the quality of developmental care level, each unit was assessed using a specifically developed questionnaire. We compared negative emotional states of mothers by splitting the 25 Neonatal Intensive Care Units into units with high-care and low-care based on median splits for two main care factors: (1) The Infant Centered Care index (consisting of measures of parent involvement, including ability to room in, frequency and duration of kangaroo care and nursing interventions aimed at decreasing infant energy expenditure and promoting autonomic stability). (2) The Infant Pain Management index (consisting of measures to decrease painful experiences including pharmacologic and nursing care practices). Maternal stress was assessed by the Parental Stressor Scale: Neonatal Intensive Care Unit questionnaire. Maternal depressive symptomatology was assessed by the Edinburgh Postnatal Depression Scale questionnaire., Results: Preterm mothers from low-care units in the Infant Pain Management reported higher scores in their perception of stress associated with behavior and appearance of the infant than mothers from high-care units (p=0.05). Preterm mothers from high-care units in the Infant Pain Management reported a depressive symptomatology score average similar to that reported by full-term mothers. No significant Infant Centered Care effect was found both for maternal stress and depression., Conclusions: The findings suggest that implementing more practices useful to reduce infants' painful experience can mitigate the stress and depressive symptomatology of the preterm mothers., (Copyright © 2013 Elsevier Ltd. All rights reserved.)

The neurocognitive profile of Williams-Beuren syndrome (WBS) is characterized by visuospatial deficits, apparently fluent language, motor soft signs, and hypersociability. We investigated the association between neuromotor soft signs and visuospatial, executive-attentive, mnestic and linguistic functions in a group of 26 children and young adults with WBS. We hypothesized that neurological soft signs could be an index of subtle neurofunctional deficits and thus provide a behavioural window into the processes underlying neurocognition in Williams-Beuren syndrome. Dysmetria and dystonic movements were selected as grouping neurological variables, indexing cerebellar and basal ganglia dysfunction, respectively. No detrimental effects on visuospatial/visuoconstructive skills were evident following the presence of either neurological variable. As for language skills, participants with dysmetria showed markedly reduced expressive syntactic and lexico-semantic skills as compared to non-affected individuals, while no difference in chronological age was evident. Participants with dystonic movements showed reduced receptive syntax and increased lexical comprehension skills as compared to non-affected individuals, the age factor being significant. In both instances, the effect size was greater for syntactic measures. We take these novel findings as suggestive of a double dissociation between expressive and receptive skills at sentence level within the WBS linguistic phenotype. The investigation of neuromotor soft signs and neuropsychological functions may provide a key to new non-cortico-centric genotype/phenotype relationships., (Copyright 2010 Elsevier Ltd. All rights reserved.)

Individuals with Williams syndrome (WS) are well known for their friendly behaviour and tendency to approach strangers indiscriminately as if everybody were their friend. This tendency to approach strangers is mirrored in their ratings of unfamiliar face stimuli. Here we examined their perception of unfamiliar expressive faces and found that individuals with WS do not always see faces as being highly approachable. Happy faces were rated as more approachable by individuals with WS than by controls. In contrast, the other less approachable face stimuli were rated lower on approachability by individuals with WS than by controls. Thus, it appears that although individuals with WS will discriminate people in terms of approachability, they have difficulty inhibiting their strong compulsion towards social interaction. The form of this strong pro-social compulsion is discussed both in terms of friendliness and in terms of the heightened salience of social stimuli (social stimulus attraction).

Two young adult dizygotic twins with high schooling suffered two strokes at the ages of 26 and 30 years. On the first occasion, Case 2 suffered a stroke only a few months after Case 1; on the second occasion, Case 1 suffered a second stroke a few months after Case 2. In Case 1, lesions were mainly localized to the left cerebellar hemisphere in both stroke episodes. Case 2 suffered lesions localized to the right cerebellar hemisphere in the first stroke episode, and multiple lesions in both cerebellar hemispheres and the vermis, right pons and left thalamus during the second stroke episode. Seven years after the second stroke, despite full recovery of motor functions, the patients still show mild, yet selective, linguistic deficits (syntactic comprehension deficits, mild agrammatism, reading and writing disorders) without speech disturbances. They also present with selective dysfunctions in visuospatial short-term memory. Language disorders are ascribed to a dysfunction of the cerebellum in Case 1, while in Case 2 a dysfunction of the cerebellum and the thalamus is considered as both structures are part of the so-called 'frontal lobe system', which supports language generation. Visuospatial short-term memory disorders are attributed to an impaired ability to appreciate the organizing structure of the visual task and to poor planning strategies, which are in turn ascribed to cerebellar lesions. The role of the cerebellum in cognitive and linguistic functions is discussed.

Individuals with Williams syndrome (WS) excel in face recognition and show both a remarkable concern for social stimuli and a linguistic capacity for, in particular, emotionally referenced language. The animated full facial expression comprehension test (AFFECT), a new test of emotional expression perception, was used to compare participants with WS with both chronological and mental age-matched controls. It was found that expression recognition in WS was worse than that of chronologically age-matched controls but indistinguishable from that of mental age controls. Different processing strategies are thought to underlie the similar performance of individuals with WS and mental age controls. The expression recognition performance of individuals with WS did not correlate with age, but was instead found to correlate with IQ. This is compared to earlier findings, replicated here, that face recognition performance on the Benton test correlates with age and not IQ. The results of the Benton test have been explained in terms of individuals with WS being good at face recognition; since a piecemeal strategy can be used, this strategy is improved with practice which would explain the correlation with age. We propose that poor expression recognition of the individuals with WS is due to a lack of configural ability since changes in the configuration of the face are an important part of expressions. Furthermore, these reduced configural abilities may be due to abnormal neuronal development and are thus fixed from an early age.