A three-years follow-up of extra intensive support for individuals with intellectual disability and severe challenging behaviour in the Netherlands.

Adults with Intellectual Disability who show severe challenging behaviour need intensive individual support. If intensive support proves to be insufficient, extra intensive support can be provided in the Netherlands, which is characterized by more time for individual care. The present study evaluates the impact of extra intensive support over time. Client characteristics of adults receiving intensive support (IS, N=70) or extra intensive support (IS+, N=35) are compared and the impact of provided support on challenging behaviour (Developmental Behaviour Checklist-Adults), adaptive behaviour (Vineland II), and Quality of Life (San Martin Scale) is evaluated over a three years period. Compared to adults receiving intensive support, those receiving extra intensive support initially showed higher intensity of challenging behaviour, higher number of mental health diagnoses and stronger focus on goals to reduce challenging behaviour. Over time, intensity of challenging behaviour decreased in adults receiving extra intensive support, although Quality of Life and adaptive functioning did not improve. Results show that the indications for receiving extra intensive support are clear and that the extra support is effective over time. It is concluded that extra individual support is serving those who need this support.

Parental Stress and Quality of Life in Parents of Young Children with Autism.

Parents of children with ASD are at risk for chronic stress due to challenging parenting. It is unknown whether stress is already present in early parenthood, similar for mothers and fathers and if this impacts quality of life (QoL). Parental stress and QoL were assessed in 56 mothers and 51 fathers of young children (aged 3 to 7) with autism. Associations between parental stress (OBVL) and QoL (WHOQoL-BREF) were examined. Parents of young children with ASD appear to have high parental stress from conflicting feelings towards their child and from difficulties with parenting. Mothers have higher stress from feeling confined in their motherly role than fathers compared to the OBVL norm population. Both mothers and fathers have a low QoL. Increased maternal conflicting feelings towards the child associated with lower psychological QoL, while high maternal feelings of role confinement associated with low physical QoL. Increased paternal conflicting feelings towards their child related to lower physical and social QoL, while fathers with more parenting difficulties reported less satisfaction with their psychological and environmental wellbeing. Thus, already at young age, parenting children with ASD is a major challenge for both mothers and fathers.

Novel Insights into Obesity in Preschool Children with Autism Spectrum Disorder.

Obesity is present in 8-32% of the children with Autism Spectrum Disorder (ASD). However, most studies are performed in school-aged children from the USA. The current study compares obesity rates of Dutch preschoolers with ASD with children from the Dutch general population and explores which child- and parental factors are related to obesity in children with ASD. This cross-sectional study is part of the ongoing Tandem Study (Dutch Trial register: NL7534). Seventy-eight children with ASD aged 3-7 years and their parents (77 mothers, 67 fathers) participated. Child factors are: Body Mass Index (by physical measurement), child eating behavior (Child Eating Behavior Questionnaire), child problem behavior (Child Behavior Checklist), and ASD severity (Autism Diagnostic Observation Scale 2). Parental factors are: BMI (by physical measurement), parental eating behavior (Dutch Eating Behavior Inventory), parenting stress (The Parenting Stress Questionnaire) and highest completed educational level (SES). Children with ASD were 8 times more often obese (16.8%) than children from the general population (2.0%). Child BMI correlated positively with child food approach behavior and maternal BMI, and correlated negatively with child 'Slowness in eating'. There was no correlation between child BMI and ASD severity, problem behavior, parental eating behavior, parental stress and SES. Thus, Dutch, preschool children with ASD have 8 times higher obesity rates than children from the general population. More attention to obesity risk in research and clinical care could contribute to the quality of life of individuals with ASD and their families. CLINICAL TRIAL REGISTRATION: Dutch Trial register, NL7534, https://trialsearch.who.int/Trial2.aspx?TrialID=NL7534 .

Effectiveness of social management training on executive functions in males with Klinefelter syndrome (47, XXY).

Men with an extra X chromosome are at risk for social difficulties in which executive functions are known to play an important role. The aim of this study was to examine the potential efficacy of a novel neurocognitive-behavioral treatment program tailored to the specific vulnerabilities of Klinefelter syndrome (47, XXY). Social Management Training (SMT) aimed to increase the ability of individuals to regulate their thoughts, emotions and behaviors in ways that are socially adaptive. 16 Adolescents and men with Klinefelter Syndrome participated in SMT. This novel group treatment program consists of 10 sessions and includes psychoeducation, cognitive-behavioral skills training, home-assignments, and relaxation exercises. There were pre- and posttest cognitive assessments (five months apart) of executive functioning including sustained attention, inhibition, cognitive flexibility and working memory, as well as self-evaluation of executive functioning in daily life. Significant pre- to posttest improvements in inhibitory control (performance test) and metacognition skills (self-report) were found, with effects sizes of 1.3 and 0.5, respectively. No effects of intervention were found on sustained attention, cognitive flexibility and working memory. These findings suggest that SMT, with a key focus on executive dysfunction and tailored to the behavioral and cognitive profile of males with Klinefelter syndrome, may be a promising and potentially efficacious treatment approach for improving self-control and social adaptation, although larger and randomized controlled studies are warranted.

Social Communication in Young Children With Sex Chromosome Trisomy (XXY, XXX, XYY): A Study With Eye Tracking and Heart Rate Measures.

OBJECTIVE: Children with sex chromosome trisomy (SCT) have an increased risk for suboptimal development. Difficulties with language are frequently reported, start from a very young age, and encompass various domains. This cross-sectional study examined social orientation with eye tracking and physiological arousal responses to gain more knowledge on how children perceive and respond to communicative bids and evaluated the associations between social orientation and language outcomes, concurrently and 1 year later. METHOD: In total, 107 children with SCT (33 XXX, 50 XXY, and 24 XYY) and 102 controls (58 girls and 44 boys) aged between 1 and 7 years were included. Assessments took place in the USA and Western Europe. A communicative bids eye tracking paradigm, physiological arousal measures, and receptive and expressive language outcomes were used. RESULTS: Compared to controls, children with SCT showed reduced attention to the face and eyes of the on-screen interaction partner and reduced physiological arousal sensitivity in response to direct versus averted gaze. In addition, social orientation to the mouth was related to concurrent receptive and expressive language abilities in 1-year-old children with SCT. CONCLUSIONS: Children with SCT may experience difficulties with social communication that extend past the well-recognized risk for early language delays. These difficulties may underlie social-behavioral problems that have been described in the SCT population and are an important target for early monitoring and support.

Introduction: On brain and crime.

Crime is a complex phenomenon involving many factors, among which are situational and societal factors. What counts as a crime may also vary across space and time. Often, it is the interplay of several factors that may lead to criminal behavior. Scientifically, brain function is important to consider, first of all because the brain is central to behavior as such, including criminal behavior. Second, because there is increasing evidence for the relevance of specific brain dysfunctions in some criminal behavior, particularly developmental findings related to nonadaptive behavior. Many of our behavioral tendencies are rooted in our childhood (experiences), and this, it appears, is also, at least to some extent, true for nonadaptive behavior. This chapter considers several overarching issues regarding the relationship between-and the science of-brain and crime, some from a conceptual, some from a legal, and others from a developmental perspective.

(Not) getting what you want: frustration and emotion regulation in children with sex chromosome trisomies.

The presence of an additional X or Y chromosome (sex chromosome trisomies, SCT) is associated with an increased risk for neurodevelopmental difficulties, including socio-emotional problems, across the life span. Studying emotion regulation in young children with SCT could signal deviations in emotional development that serve as risk markers to guide clinical care. This study explored the presence and variety of emotion regulation strategies in 75 SCT children and 81 population-based controls, aged 1-7 years, during a frustration-inducing event in which physiological (heart rate) and observational data (behavioral responses) were collected. Children with SCT were equally physiologically aroused by the event as compared to controls. However, they showed more emotion regulation difficulties in terms of behavior compared to controls that were not explicable in terms of differences in general intellectual functioning. Specifically, they had a more limited range of behavioral alternatives and tended to rely longer on inefficient strategies with increasing age. The field of practice should be made aware of these early risk findings regarding emotion regulation in SCT, which may potentially lay the foundation for later socio-emotional problems, given the significant impact of emotion regulation on child and adult mental health outcomes. The current results may help to design tailored interventions to reduce the impact of the additional sex chromosome on adaptive functioning, psychopathology, and quality of life.

Neurocognitive and behavioral development in young children (1-7 years) with sex chromosome trisomy.

Investigating sex chromosome trisomies (SCTs) may help in understanding neurodevelopmental pathways underlying the risk for neurobehavioral problems and psychopathology. Knowledge about the neurobehavioral phenotype is needed to improve clinical care and early intervention for children with SCT. This is especially relevant considering the increasing number of early diagnosed children with the recent introduction of noninvasive prenatal screening. The TRIXY Early Childhood Study is a longitudinal study designed to identify early neurodevelopmental risks in children with SCT, aged 1-7 years. This review summarizes the results from the TRIXY Early Childhood Study, focusing on early behavioral symptoms in areas of autism spectrum disorder, attention-deficit hyperactivity disorder, and communication disorders, and underlying neurocognitive mechanisms in domains of language, emotion regulation, executive functioning, and social cognition. Behavioral symptoms were assessed through structured behavior observation and parental questionnaires. Neurocognition was measured using performance tests, eyetracking, and psychophysiological measures of arousal. In total, 209 children aged 1-7 years were included: 107 children with SCT (33 XXX, 50 XXY, and 24 XYY) and 102 age-matched population controls. Study outcomes showed early behavioral symptoms in young children with SCT, and neurocognitive vulnerabilities, already from an early age onward. Neurobehavioral and neurocognitive difficulties tended to become more pronounced with increasing age and were rather robust, independent of specific karyotype, pre/postnatal diagnosis, or ascertainment strategy. A more longitudinal perspective on neurodevelopmental 'at-risk' pathways is warranted, also including studies assessing the effectiveness of targeted early interventions. Neurocognitive markers that signal differences in neurodevelopment may prove to be helpful in this. Focusing on early development of language, social cognition, emotion regulation, and executive functioning may help in uncovering early essential mechanisms of (later) neurobehavioral outcome, allowing for more targeted support and early intervention.

New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY.

The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research. We focus on the genetics and genomics of supernumerary sex chromosome syndromes with new data being presented. Most knowledge centre specifically on Klinefelter syndrome, where aspects on testosterone deficiency and the relation to bone, muscle and fat were discussed, as was infertility and the treatment thereof. Both trisomy X and 47,XYY syndrome are frequently affected by infertility. Transitioning of males with Klinefelter syndrome was addressed, as this seemingly simple process in practise is often difficult. It is now realized that neurocognitive changes are pervasive in all supernumerary sex chromosome syndromes, which were extensively discussed. New intervention projects were also described, and exciting new data concerning these were presented. Advocacy organizations were present, describing the enormous burden carried by parents when having to explain their child's specific syndrome to most professionals whenever in contact with health care and education systems. It was also pointed out that most countries do not have health care systems that diagnose patients with supernumerary sex chromosome syndromes, thus pinpointing a clear deficiency in the current genetic testing and care models. At the end of the workshop, a roadmap towards the development of new international clinical care guidelines for Klinefelter syndrome was decided.

Effectivity of Play-Based Interventions in Children with Autism Spectrum Disorder and Their Parents: A Systematic Review.

Evidence of the effectivity of play-based interventions in children with autism spectrum disorder (ASD) was evaluated by PRISMA-based literature study and a Risk of Bias (RoB) assessment. Many of the 32 eligible randomized controlled trials (RCT) reported improved social interaction, communication, daily functioning and play behaviour. They also reported decreased problem behaviour, better parental attunement and parent-child interaction. We assessed 25/32 of the RCTs with high RoB, mainly related to homogeneity of the study population, lack of power, and performance bias. We concluded with due care that the effectivity of play-based interventions differed across RCTs, most reported improvements are found in ASD symptoms, everyday functioning, and parental attunement. In future research, findings should be replicated, taking account of the RoB.

Structural and pragmatic language in young children with sex chromosome trisomy (XXX, XXY, XYY): Predictive value for neurobehavioral problems one year later.

Objective: To investigate pragmatic language abilities in young children with an increased risk for adverse neurobehavioral and neurocognitive outcomes due to an extra X or Y chromosome (sex chromosome trisomy; SCT) and to investigate to what degree early structural and pragmatic language abilities are predictive of neurobehavioral problems one year later. Method: In total, 72 children with SCT and 71 controls aged 3-7 years were included. Language assessments included parent-reported pragmatic language skills and direct assessment of structural language abilities. Parent-reported behavioral outcomes were measured one year after the initial language assessment. Results: Children with SCT demonstrated weaker pragmatic language skills compared to controls. These differences were not driven by karyotype, time of diagnosis, or ascertainment bias and irrespective of the presence of structural language impairment. Odds of having pragmatic difficulties was 23 times higher in the SCT group, with 25% of the children not meeting age-expectations. In addition, language, in particular pragmatic language, was an important predictor for later affective, oppositional defiant, pervasive developmental, attention deficit, and social-emotional problems in young children with SCT. Conclusions: This study is one of the first studies that directly illustrates the relationship between language and behavioral outcomes in children with SCT. Our results stress the importance to closely monitor pragmatic language in addition to structural language in clinical care of children with SCT, as pragmatic language abilities could serve as an early marker for children at risk for developing behavioral problems.

Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD).

Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) have an increased vulnerability for developing challenges in social adaptive functioning. The present study investigates social interaction behavior in the context of varying social load, and Autism Spectrum Disorder (ASD) symptomatology in young children aged 1-7.5 years old, with SCT (N = 105) and control children (N = 101). Children with SCT show less interaction behaviors and more social withdrawal, as compared to their control peers, which were most evident in the high social load condition. Second, social impairments related to ASD are more prevalent, as compared to controls (27.1% at clinical level). These findings stress the importance of early monitoring and (preventive) support of early social development in young children with SCT.

Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention.

The objective of the present study is to investigate the impact of Sex Chromosome Trisomy (SCT; XXX, XXY, XYY) on the early appearance of Autism Spectrum Disorder (ASD) symptoms, and the predictive value of Joint Attention for symptoms of ASD. SCTs are specific genetic conditions that may serve as naturalistic 'at risk' models of neurodevelopment, as they are associated with increased risk for neurobehavioral vulnerabilities. A group of 82 children with SCT (aged 1-8 years) was included at baseline of this longitudinal study. Joint Attention was measured at baseline with structured behavior observations according to the Early Social Communication Scales. ASD symptoms were assessed with the Modified Checklist for Autism in Toddlers questionnaire and Autism Diagnostic Interview-Revised in a 1-year follow-up. Recruitment and assessment took place in the Netherlands and in the United States. The results demonstrate that ASD symptoms were substantially higher in children with SCT compared to the general population, with 22% of our cohort at clinical risk for ASD, especially in the domain of social interaction and communication. Second, a predictive value of Joint Attention was found for ASD symptoms at 1-year follow-up. In this cohort, no differences were found between karyotype-subtypes. In conclusion, from a very early age, SCT can be associated with an increased risk for vulnerabilities in adaptive social functioning. These findings show a neurodevelopmental impact of the extra X or Y chromosome on social adaptive development associated with risk for ASD already from early childhood onward. These findings advocate for close monitoring and early (preventive) support, aimed to optimize social development of young children with SCT.

[Formula: see text] Emotional reactivity and expressivity in young children with sex chromosome trisomies: evidence from psychophysiological and observational data.

Although sex chromosomal trisomies (SCT) in children are highly prevalent and associated with an increased risk for neurodevelopmental difficulties including socio-emotional problems, little is known about underlying mechanisms that could drive this risk. Studying emotional reactivity and expressivity of young children with SCT in early childhood could identify deviations in early emotional development and potentially serve as risk markers to guide clinical care in developing interventions. Participants in the current study were 90 SCT children and 97 population-based controls, aged 1 to 7 years, who experienced a stress-inducing event in which physiological (heart rate) and observational data (expression of negative emotions) were collected. Results showed early disturbances in the emotion system of young children with SCT, in terms of blunted but prolonged emotional reactivity and a reduced emotional expressivity in response to stress. Further, the concordance between emotional reactivity (arousal response) and expressivity was significantly lower in SCT, compared to controls. Given the significant impact of emotions on adaptive day-to-day functioning, deviations in processing emotions could be an important underlying mechanism in explaining the heterogeneity and variability in developmental outcomes often described in individuals with SCT.

Stress, Eating Behavior and Adverse Health in Parents of Young Children with Autism Spectrum Disorder.

Mothers of children with Autism Spectrum Disorder (ASD) often experience chronic stress and are at risk for adverse health. However, little is known about fathers, especially when their child is in early childhood. Parenting stress, eating behavior and physical health was evaluated in mothers (n = 48) and fathers (n = 43) of young children (3-7 years) with ASD by questionnaires and physical measurements. Mother's prevalence rates of obesity (39.1%), abdominal obesity (59.6%) and metabolic syndrome (21.6%) were higher than the norm. In fathers, the prevalence rate of clinical parenting stress (33%) was higher than the norm. Parenting stress was positively related to disinhibited eating in mothers, not in fathers. It is crucial to monitor stress and health of parents of children with ASD.

The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study.

BACKGROUND: About 1:650-1000 children are born with an extra X or Y chromosome (47,XXX; 47,XXY; 47,XYY), which results in a sex chromosome trisomy (SCT). This international cross-sectional study was designed to investigate gaze towards faces and affect recognition during early life of children with SCT, with the aim to find indicators for support and treatment. METHODS: A group of 101 children with SCT (aged 1-7 years old; Mage= 3.7 years) was included in this study, as well as a population-based sample of 98 children without SCT (Mage= 3.7). Eye gaze patterns to faces were measured using an eye tracking method that quantifies first fixations and fixation durations on eyes of static faces and fixation durations on eyes and faces in a dynamic paradigm (with two conditions: single face and multiple faces). Affect recognition was measured using the subtest Affect Recognition of the NEPSY-II neuropsychological test battery. Recruitment and assessment took place in the Netherlands and the USA. RESULTS: Eye tracking results reveal that children with SCT show lower proportion fixation duration on faces already from the age of 3 years, compared to children without SCT. Also, impairments in the clinical range for affect recognition were found (32.2% of the SCT group scored in the well below average range). CONCLUSIONS: These results highlight the importance to further explore the development of social cognitive skills of children with SCT in a longitudinal design, the monitoring of affect recognition skills, and the implementation of (preventive) interventions aiming to support the development of attention to social important information and affect recognition.

The developmental impact of sex chromosome trisomies on emerging executive functions in young children: Evidence from neurocognitive tests and daily life skills.

Sex chromosomal trisomies (SCT) are associated with impairments in executive functions in school-aged children, adolescents, and adults. However, knowledge on preschool development of executive functions is limited but greatly needed to guide early intervention. The current study examined emerging executive functions in young children with SCT. Participants were 72 SCT children and 70 population-based controls, aged 3-7 years, who completed a neurocognitive assessment of both global executive function (MEFS) and verbal executive function skills (NEPSY Word Generation). Caregivers completed the Behavior Rating Inventory of Executive Function (BRIEF) questionnaire to capture real-world behavioral manifestations of impairments in executive functions. Results showed that impairments were significantly more prevalent in SCT than in controls and already present from 3 years, specifically verbal executive functions and working memory. Broader more pronounced impairments were found in older children with SCT. Age was significantly related to executive functions, but specific domains showed different relations with age. For example, deficits in planning and organizing remained evident with older age in SCT whereas it declined with age in controls. Impairments in executive functions were present across different levels of intelligence. Already at an early age, impairments across executive functions should be considered part of the neurodevelopmental profile of SCT, which appear more prominent at later age. Future studies should investigate developmental pathways of executive functions in SCT, given its relevance in cognitive, social, and emotional development. Executive functions should be screened and monitored in children with SCT and could be an important target of preventive intervention.

Early Preventive Intervention for Young Children With Sex Chromosome Trisomies (XXX, XXY, XYY): Supporting Social Cognitive Development Using a Neurocognitive Training Program Targeting Facial Emotion Understanding.

Background: Sex Chromosome Trisomies (SCTs; XXX, XXY, XYY) are genetic conditions that are associated with increased risk for neurodevelopmental problems and psychopathology. There is a great need for early preventive intervention programs to optimize outcome, especially considering the increase in prenatal diagnoses due to recent advances in non-invasive prenatal screening. This study is the first to evaluate efficacy of a neurocognitive training in children with SCT. As social behavioral problems have been identified as among the key areas of vulnerability, it was targeted at improving a core aspect of social cognition, the understanding of social cues from facial expressions. Methods: Participants were 24 children with SCT and 18 typically developing children, aged 4-8 years old. Children with SCT were assigned to a training (n = 13) or waiting list (no-training) group (n = 11). Children in the training group completed a neurocognitive training program (The Transporters), aimed to increase understanding of facial emotions. Participants were tested before and after the training on facial emotion recognition and Theory of Mind abilities (NEPSY-II), and on social orienting (eyetracking paradigm). The SCT no-training group and typically developing control group were also assessed twice with the same time interval without any training. Feasibility of the training was evaluated with the Social Validity Questionnaire filled out by the parents and by children's ratings on a Visual Analog Scale. Results: The SCT training group improved significantly more than the SCT no-training and TD no-training group on facial emotion recognition (large effect size; η p 2 = 0.28), performing comparable to typical controls after completing the training program. There were no training effects on ToM abilities and social orienting. Both children and parents expressed satisfaction with the feasibility of the training. Conclusions: The significant improvement in facial emotion recognition, with large effect sizes, suggests that there are opportunities for positively supporting the development of social cognition in children with an extra X- or Y-chromosome, already at a very young age. This evidence based support is of great importance given the need for preventive and early training programs in children with SCT, aimed to minimize neurodevelopmental impact.

Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1-2-year-old children.

Sex chromosome trisomies (SCTs) are characterized by an extra X- or Y-chromosome (XXX, XXY, XYY). The present study aims to investigate early signs of social communication and social emotional development in very young children with SCT. Thirty-four children with SCT (aged 12-24 months) were included in this study, as well as 31 age-matched controls. Social communication was measured with structured behavior observations according to the Early Social Communication Scales, and social emotional developmental level with the Bayley Social Emotional parental questionnaire. Recruitment and assessment took place in the Netherlands and in the United States. On average, 12-24-month old children with SCT showed difficulties with early social communication, more so in responding to others as compared to initiating social communications. During social interactions, children with SCT made less frequent eye contact, compared to controls. Also, difficulties in acquiring social emotional milestones were found in 1-year old children with SCT, with 44% of the children having social emotional vulnerabilities in the borderline or extremely low range, compared to typically developing children. In this cohort, no significant predictive effects of karyotype-subtype (XXX, XXY, XYY) were found. Already from a very early age, SCT can be associated with increased risk for vulnerabilities in adaptive social functioning. These findings suggest that SCT impact the maturation of the social brain already from an early age, and stress the importance of early monitoring and (preventive) support early social development in young children with SCT.