Early development and adaptive functioning in children with Bardet-Biedl syndrome.

This study had two aims. Aim one investigated achievement of 10 developmental milestones in children with Bardet-Biedl syndrome (BBS). Aim one data were derived from retrospective responses by caregivers of individuals with BBS who are enrolled in the Clinical Registry Investigating Bardet-Biedl syndrome (CRIBBS). CRIBBS is a natural history registry acquiring serial observations. Aim two investigated early adaptive skills using the Adaptive Behavior Assessment System (ABAS-II 0-5) completed by caregivers of children with BBS aged from 0 to 5. There were 652 individuals with milestone information (with some variability based on availability of information for specific milestones), and 101 individuals (including 95 among the 652) with ABAS-II information. Results revealed wide-ranging delays in adaptive skills, particularly in the domain of Self-Care. Expressive language appears to be the most frequently delayed developmental milestone. We found a difference by BBS genotype wherein individuals with BBS1 had higher adaptive/developmental scores than individuals with BBS10. Age also carried a significant association with adaptive skills diverging farther from a normative trajectory as children with BBS progress through early childhood.

Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.

BACKGROUND: 3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric phenotypes. Mild to moderate intellectual disability (ID) is common in this population, and previous work by our team identified substantial deficits in adaptive behaviour. However, the full profile of adaptive function in 3q29del has not been described nor has it been compared with other genomic syndromes associated with elevated risk for neurodevelopmental and neuropsychiatric phenotypes. METHODS: Individuals with 3q29del (n = 32, 62.5% male) were evaluated using the Vineland Adaptive Behaviour Scales, Third Edition, Comprehensive Parent/Caregiver Form (Vineland-3). We explored the relationship between adaptive behaviour and cognitive function, executive function, and neurodevelopmental and neuropsychiatric comorbidities in our 3q29del study sample, and we compared subjects with 3q29del with published data on fragile X syndrome, 22q11.2 deletion syndrome and 16p11.2 deletion and duplication syndromes. RESULTS: Individuals with 3q29del had global deficits in adaptive behaviour that were not driven by specific weaknesses in any given domain. Individual neurodevelopmental and neuropsychiatric diagnoses had a small effect on adaptive behaviour, and the cumulative number of comorbid diagnoses was significantly negatively associated with Vineland-3 performance. Both cognitive ability and executive function were significantly associated with adaptive behaviour, and executive function was a better predictor of Vineland-3 performance than cognitive ability. Finally, the severity of adaptive behaviour deficits in 3q29del was distinct from previously published data on comparable genomic disorders. CONCLUSIONS: Individuals with 3q29del have significant deficits in adaptive behaviour, affecting all domains assessed by the Vineland-3. Executive function is a better predictor of adaptive behaviour than cognitive ability in this population and suggests that interventions targeting executive function may be an effective therapeutic strategy.

Exploring developmental trajectories throughout adolescence of children with autism spectrum disorder without intellectual disability.

Characterizing the developmental trajectories of children with autism spectrum disorder (ASD) throughout adolescence and across different domains of functioning offers opportunities to improve long-term outcomes. This prospective study explored, for the first time, the evolution of children with ASD-without intellectual disability (ID) in terms of socio-adaptative skills, learning behaviors, executive functioning (EF), and internalizing/externalizing problems, compared to typically developing (TD) peers. Forty-five children with ASD-without ID and 37 matched TD children (aged 7-11) were assessed at baseline and after 5 years. Parents and teachers completed measures on theory of mind (ToM), socialization, daily living skills, learning style, EF, and emotional/behavioural difficulties at both time points. On all the domains assessed, the ASD group performed significantly worse than the TD group, both in childhood and adolescence. Specific changes were noted between baseline and follow-up assessment on adaptive skills, prosocial behavior, emotional control, inhibit, working memory and monitoring. Group membership (ASD/TD) was influenced by peer relationships and inhibit EF variables. These findings have implications for clinical and school settings.

Brief report comparing the Scale of Emotional Development - Short (SED-S) with other scales for emotional development.

BACKGROUND: Different instruments were devised for assessing emotional development (ED) level in persons with an intellectual disability (ID), that is, the Scale of Emotional Development - Short (SED-S), the Scheme for Appraisal of Emotional Development (SAED), the Scale for Emotional Development - Second Revision (SED-R2 ) and the Schaal voor Emotionele Ontwikkeling - Lukas (SEO-Lukas). The aim of this study was to compare the level of emotional functioning as assessed with the SED-S with the SAED, SED-R2 and SEO-Lukas. METHODS: Emotional development was measured in adults with ID with the SED-S (N = 186) and the SAED (n = 85), the SED-R2 (n = 50) and the SEO-Lukas (n = 51). Correlation analysis and Cohen's kappas were calculated between the SED-S and the three respective scales. Internal consistencies (Cronbach's alpha) of the four scales were determined. RESULTS: The SED-S results correlated most with the SEO-Lukas (γ = 1; кω = 0.936) followed by the SAED (γ = 0.809; кω = 0.343) and least by the SED-R2 (γ = 0.665; кω = 0.182). The stage of ED assessed with the SED-S was lower than the ED results measured with the SAED, but higher than with the SED-R2 and most similar to the SEO-Lukas. Cronbach's alphas were high, ranging from 0.853 to 0.975. CONCLUSIONS: Given the respective differences between the scales, the SED-S may equalise the results as compared with previous versions.

The adaptive ability performance test (ADAPT): A factor analytic study in clients with intellectual disabilities.

BACKGROUND: The adaptive ability performance test (ADAPT) was developed to assess adaptive skills in individuals with intellectual disabilities and borderline intellectual functioning, with or without mental disorders. As a follow-up to earlier research on the ADAPT, a factor analytic study was conducted. METHOD: One thousand and sixty six ADAPTs from clients with (suspected) intellectual disabilities or borderline intellectual functioning and 129 ADAPTs from participants from the general population were collected along with other characteristics (e.g., IQ, psychiatric classifications, living situation). RESULTS: An exploratory factor analysis (EFA) was performed and resulted in good fit indices. Subsequent confirmatory factor analysis (CFA) and multigroup CFA showed acceptable to good fit indices. This resulted in an instrument with eight factors and 62 items. CONCLUSION: Factor analytic results suggest that the ADAPT is a valid instrument that measures adaptive skills in individuals with intellectual disabilities or borderline intellectual functioning.

Adaptive Behavior Profiles in Autism Spectrum Disorder.

PURPOSE OF REVIEW: The goal of this paper is to provide an overview of profiles of adaptive behavior in autism spectrum disorder and highlight the importance of these everyday skills in optimizing self-sufficiency throughout life. RECENT FINDINGS: Research has clearly confirmed that adaptive deficits exist in ASD, particularly in social skills. These impairments are highly associated with co-occurring conditions such as executive functioning impairments, psychiatric conditions, and even psychosis. There tends to be a discrepancy between intellectual capacity and adaptive functioning, particularly in autistic individuals without cognitive and language delays, with this gap widening between childhood and adulthood. Although cognition and language skills are associated with good outcome in ASD, they are insufficient in the absence of intact adaptive behavior. There is a critical need to emphasize the importance of adaptive functioning in diagnostic evaluations and treatment/intervention programs to ensure that every autistic individual has the potential for success.

Infant repetition effects and change detection: Are they related to adaptive skills?

Repetition effects and change detection response have been proposed as neuro-electrophysiological correlates of fundamental learning processes. As such, they could be a good predictor of brain maturation and cognitive development. We recorded high density EEG in 71 healthy infants (32 females) aged between 3 and 9 months, while they listened to vowel sequences (standard /a/a/a/i/ [80%] and deviant /a/a/a/a/ [20%]). Adaptive skills, a surrogate of cognitive development, were measured via the parent form of the Adaptive Behavior Assessment System Second Edition (ABAS-II). Cortical auditory-evoked potentials (CAEPs) analyses, time-frequency analyses and a statistical approach using linear mixed models (LMMs) and linear regression models were performed. Age and adaptive skills were tested as predictors. Age modulation of repetition effects and change detection response was observed in theta (3-5 Hz), alpha (5-10 Hz) and high gamma (80-90 Hz) oscillations and in all CAEPs. Moreover, adaptive skills modulation of repetition effects was evidenced in theta (3-5 Hz), high gamma oscillations (80-90 Hz), N250/P350 peak-to-peak amplitude and P350 latency. Finally, adaptive skills modulation of change detection response was observed in the N250/P350 peak-to-peak amplitude. Our results confirm that repetition effects and change detection response evolve with age. Moreover, our results suggest that repetition effects and change detection response vary according to adaptive skills displayed by infants during the first year of life, demonstrating their predictive value for neurodevelopment.

The Neurological Predictor Scale Predicts Adaptive Functioning via Executive Dysfunction in Young Adult Survivors of Childhood Brain Tumor.

OBJECTIVES: Survivors of childhood brain tumors experience neurological sequelae that disrupt everyday adaptive functioning (AF) skills. The Neurological Predictor Scale (NPS), a cumulative measure of tumor treatments and sequelae, predicts cognitive outcomes, but findings on its relation to informant-reported executive dysfunction (ED) and AF are mixed. Given known effects of frontal-subcortical system disruptions on AF, this study assessed the NPS' relationship with AF as mediated by frontal systems dysfunction, measured by the Frontal Systems Behavior Scale (FrSBe). METHODS: 75 participants (Mage = 23.5, SDage = 4.5) were young adult survivors of childhood brain tumors at least 5 years past diagnosis. FrSBe and Scales of Independent Behavior-Revised (SIB-R), a measure of AF, were administered to informants. Parallel multiple mediator models included Apathy and ED as mediators, and age at diagnosis and time between diagnosis and assessment as covariates. RESULTS: More complex treatment and sequelae were correlated with poorer functioning. Mediation models were significant for all subscales: Motor Skills (MS), p = .0001; Social Communication (SC), p = .002; Personal Living (PL), p = .004; Community Living (CL), p = .007. The indirect effect of ED on SC and CL was significant; the indirect effect of Apathy was not significant for any subscales. CONCLUSIONS: More complex tumor treatment and sequelae were associated with poorer long-term AF via increased ED. Cognitive rehabilitation programs may focus on the role of executive function and initiation that contribute to AF, particularly SC and CL skills, to help survivors achieve comparable levels of independence in everyday function as their peers.

Adaptive functioning and academic achievement in survivors of childhood acute lymphoblastic leukemia: A report from the Children's Oncology Group.

PURPOSE: To characterize academic and adaptive skill outcomes in survivors of high-risk B-lineage acute lymphoblastic leukemia (HR B-ALL). METHODS: Participants were 178 patients enrolled on a nontherapeutic clinical trial that aimed to characterize neurocognitive and functional outcomes (ie, academic achievement and adaptive skills) following treatment for childhood HR B-ALL. Eligible patients were treated on Children's Oncology Group AALL0232 clinical trial that included two treatment randomizations: methotrexate delivery (high or escalating dose) and corticosteroid (dexamethasone or prednisone). Academic achievement and adaptive skills were evaluated at one time point, 8-24 months after completing treatment. RESULTS: Multivariable logistic regression showed no significant association between treatment variables and outcomes after accounting for age at diagnosis, sex, and insurance status. In multivariable analyses accounting for sex and insurance status, survivors <10 years old at diagnosis had significantly lower scores in Math (P = .02). In multivariable analyses accounting for sex and age at diagnosis, scores for children with US public health insurance were significantly lower than those with US private or military insurance across all academic and adaptive skills (all P-values ≤.04). Results from univariate analyses showed that boys had significantly lower scores than girls across all adaptive skill domains (all P-values ≤.04). CONCLUSION: Regardless of treatment randomization, survivors of HR B-ALL <10 years at diagnosis are at risk for deficits in Math and overall adaptive functioning; overall adaptive skills for boys were significantly poorer. Screening and early intervention for patients at highest risk, particularly young patients and lower resourced families, should be prioritized.

The ADaptive Ability Performance Test (ADAPT): A new instrument for measuring adaptive skills in people with intellectual disabilities and borderline intellectual functioning.

BACKGROUND: Since the DSM-5, adaptive functioning has taken a prominent place in the classification of intellectual disability (ID). The ADAPT was developed to assess adaptive skills in individuals with ID. METHOD: A total of 2,081 ADAPTs from clients with suspected ID or borderline intellectual functioning and 129 ADAPTs from people from the general population (non-ID) were collected, along with background characteristics. RESULTS: Internal consistency of the ADAPT was high (α = 0.98). ADAPT scores were positively associated with IQ, educational level and level of independent living. Furthermore, individuals without ID scored significantly higher than the clients on all of the 65 ADAPT items. Reference values were established for different IQ groups and living situations. CONCLUSION: Results suggest that the ADAPT is a valid instrument for measuring adaptive skills in individuals with ID. The reference values may be used for the purpose of estimating the level of ID and the needed intensity of support.

Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis.

Identifying the factors related to adaptive functioning will improve the information available to families and providers of females with Trisomy X. Cognitive and behavioral features were assessed in 50 females ages 12.2 ± 3.6 years using the Behavior Assessment System for Children Second Edition (BASC-2) and Wechsler Scales of Intelligence. Executive functioning, social skills, and autistic traits were evaluated in a subset. Adaptive functioning was assessed using the BASC-2 adaptive skills composite score (ASC). Participants were classified as average adaptive skills (ASC T-score > 40) or deficits (ASC T-score < 40). Group comparisons were conducted. Multiple linear regression examined which factors contributed to ASC score. Twenty-eight females (55.6%) had adaptive skills deficits with functional communication being the most commonly affected adaptive domain. The group with ASC in the average range had higher verbal IQ (VIQ) and lower rates of numerous behavioral concerns. Internalizing behavior composite, DSM-IV inattentive symptoms score, and VIQ were significant predictors of ASC. Prenatally diagnosed females comprised over 70% of those with average adaptive skills. In this study, internalizing behaviors, inattentive ADHD symptoms, and VIQ were associated with poorer adaptive functioning. Early interventions targeting internalizing behaviors, attention/executive functioning, and communication skills may improve adaptive skills and deserve further study.

Maternal Depressive Symptoms and Developmental Delay at Age 2: A Diverse Population-Based Longitudinal Study.

OBJECTIVES: Children raised by depressed mothers perform lower on measures of cognitive, emotional, and behavioral skills, compared to children of non-depressed mothers. It is unclear how maternal depressive symptoms (MDS), which persist and accrue over time, impact child development. The purpose of this study was to determine whether cumulative MDS from pre-pregnancy to postpartum influences child development in children by age 2.5. METHODS: Using a longitudinal population-based study design, 2679 racially and ethnically diverse mothers completed the 2014 Los Angeles Mommy and Baby (LAMB) and 2016 Follow-Up surveys. A total MDS score was created based on responses to standardized questions, including the Patient Health Questionnaire-2 (PHQ-2). Data was collected for before pregnancy, during pregnancy, and 4 months postpartum in the 2014 survey, and at 2.5 years postpartum in the 2016 survey. Child development was measured using the CDC's Learn the Signs. Act Early Milestones Checklist. Bivariate and multivariate logistic regressions were conducted. RESULTS: The prevalence of any cumulative MDS was 45.2%. Language, cognitive/adaptive, motor, and social-emotional delays for surveyed toddlers were 7.7%, 4.0%, 1.2%, and 14.2%. After adjusting for covariates, mothers reporting depressive symptoms at all four time points were significantly more likely to report a social-emotional delay in their child (aOR = 4.39, 95% CI - 1.72 to 11.18). CONCLUSIONS FOR PRACTICE: Mothers with cumulative depressive symptoms are at-risk of reporting social-emotional delays by age 2.5. Understanding these effects may help direct resources to target interventions that support mothers with depressive symptoms early-on and promote positive developmental outcomes among their children.

Validating GO4KIDDS as a brief measure of adaptive skills in special education settings for children with severe intellectual disability.

BACKGROUND: Adaptive skills measures tend to be lengthy. The GO4KIDDS (Great Outcomes for Kids Impacted by Severe Developmental Disabilities; (Journal of Applied Research in Intellectual Disabilities, 58, 2015 and 594)) Brief Adaptive Behaviour Scale was developed to provide a brief assessment of adaptive skills. Our study aimed to examine the psychometric properties of G04KIDDS Brief Adaptive Scale in a large sample of children in special education. METHODS: Teachers reported on 361 students with severe to profound intellectual disability. The scale's factor structure was examined through principal components analysis (PCA), while its convergent validity was examined in relation to the Vineland (VABS-II; Vineland-II adaptive behavior scales, Circle Pines, MN, AGS and 2005). RESULTS: The PCA indicated a single component measuring overall adaptive skills, which had excellent internal consistency (alpha = 0.93), and convergent validity (Pearson's r = 0.81). CONCLUSIONS: Teacher-reported scores on GO4KIDDS Brief Behaviour Scale can provide a reliable and valid composite of adaptive skills in children with severe to profound intellectual disability. The scale will be useful to researchers and teachers who need a brief descriptive assessment of adaptive functioning.

Exposure to polybrominated diphenyl ethers (PBDEs) and child behavior: Current findings and future directions.

Polybrominated diphenyl ethers (PBDEs) are recognized neurotoxicants, but the extent to which PBDEs influence various domains of behavior in children is not fully understood. As such, we reviewed epidemiologic studies published to date to provide an overview of the current state of knowledge on PBDEs' potential role in behavioral development. We identified 19 epidemiologic studies reporting on associations of prenatal and childhood concentrations of PBDEs with behaviors assessed in children from 1 to 12years, including executive function, attention, externalizing and internalizing behaviors, adaptive skills, and social behaviors/Autism Spectrum Disorder (ASD). While the mechanisms of PBDE neurotoxicity in humans are still not clearly elucidated, findings from this review indicate that PBDE exposure during fetal development is associated with impairments in executive function and poorer attentional control in children. Results from large prospective cohorts demonstrate that prenatal and postnatal PBDE exposure adversely impacts externalizing behavior (e.g., hyperactivity and conduct problems). Additional studies are needed to determine whether PBDEs are associated with internalizing problems, adaptive skills, and social behaviors/ASD in children. Future studies will help better understand the potential neurotoxic effects of PBDE exposures during adolescence, possible sex-dependent effects, and the impact of exposure to BDE-209 and alternative flame retardants. Future studies should also examine chemical mixtures to capture real-world exposures when examining PBDEs and their impact on various behavioral domains in the context of multiple chemical exposures.

Tracking the Influence of Autistic Traits on Competencies Among School Aged Children with Subthreshold Autistic Traits: A Longitudinal Study.

This study aims to further explore the implications of autism spectrum disorder (ASD) symptoms for children who do not meet full diagnostic criteria. More specific characterization of how challenges present relative to traits of ASD such as social responsiveness is vital to developing an understanding of what competency and mental health difficulties these impairments are related to, and if they persist over time. Assessments of autistic traits, clinical symptomotology, and competency were used to quantify the relation of these domains cross-sectionally and across time. Social Responsiveness Scale (SRS) scores significantly contributed to a teacher-report Happy scale from the Teacher's Report Form and a parent-report Social scale from the Child Behavior Checklist. No significant longitudinal models emerged. Splitting the SRS scores into three severity classes revealed that impaired social responsiveness is significantly related to competency, unlike average or below average deficits. Implications of subthreshold ASD traits on competency outcomes are discussed.

Cognitive and adaptive measurement endpoints for clinical trials in mucopolysaccharidoses types I, II, and III: A review of the literature.

Sensitive, reliable measurement instruments are critical for the evaluation of disease progression and new treatments that affect the brain in the mucopolysaccharidoses (MPS). MPS I, II, and III have early onset clinical phenotypes that affect the brain during development and result in devastating cognitive decline and ultimately death without treatment. Comparisons of outcomes are hindered by diverse protocols and approaches to assessment including applicability to international trials necessary in rare diseases. We review both cognitive and adaptive measures with the goal of providing evidence to a Delphi panel to come to a consensus about recommendations for clinical trials for various age groups. The results of the consensus panel are reported in an accompanying article. The following data were gathered (from internet resources and from test manuals) for each measure and summarized in the discussion: reliability, validity, date and adequacy of normative data, applicability of the measure's metrics, cross cultural validity including translations and adaptations, feasibility in the MPS population, familiarity to sites, sensitivity to change, and interpretability. If, resulting from this consensus, standard protocols are used for both natural history and treatment studies, patients, their families, and health care providers will benefit from the ability to compare study outcomes.

Adaptive functioning in pediatric epilepsy: contributions of seizure-related variables and parental anxiety.

Young people with epilepsy are less likely to achieve the level of independence attained by their peers. We examined the seizure-related variables that placed a group of 97 pediatric patients with intractable seizures at risk for poor adaptive functioning. Analyses evaluated both the direct effects of the medical variables and indirect effects that were mediated through increased parental anxiety about their child's epilepsy. Higher numbers of anticonvulsants, presence of seizures that secondarily generalize, longer duration of seizure disorder, and younger age at onset were all identified as risk factors for poor adaptive functioning. Depending on the specific behavioral domain of adaptive functioning, the effects were sometimes direct and sometimes indirect. Lower levels of parental education and positive family history of seizures were associated with higher levels of parental anxiety. Interventions that target parental anxiety about seizures may mitigate the deleterious effects of epilepsy on social development.

Evaluating outcomes of a community-based parent training program for Japanese children with developmental disabilities: a retrospective pilot study.

Parent training (PT) for parents of children with developmental disabilities (DDs) has recently been recommended in community settings in many countries, including Japan. Research has shown PT could improve parenting skills and mental health in parents as well as improve adaptive skills and reduce behavioral problems in children. Despite evidence concerning the beneficial effects of PT on both parents and children, there is a lack of evidence concerning the potential benefits of PT in real world settings. Moreover, no research has examined whether PT programs implemented in clinical settings have a similar impact on all parents of children with various type of DDs. The present pilot study aimed to examine whether positive changes occur similarly in parental mental health and in the adaptive skills of children with DDs as a result of PT, irrespective of the children's disability type. The study used data from 128 parents who had participated in a PT program in a clinical setting and data concerning 128 children aged 2-17 years with a wide range of DDs, namely autism spectrum disorder, intellectual disability, and other DDs, generated through parental reports and retrospectively assessed the impact of PT on parents and their children. Specifically, changes in parental mental health and the adaptive skills of children were analyzed. The PT program was designed to help parents teach their children adaptive skills at home using applied behavior analytic techniques. The results showed that the parents improved their mental health significantly after completing the PT, irrespective of their child's disability type. During the PT period, almost all the parents were able to implement several instructional tasks targeted toward their children; some children with DDs acquired several adaptive skills. However, these positive changes were not observed in all the parents and their children. These findings suggest that some parents and their children with DDs may benefit from the PT program in a clinical setting. Concurrently, these findings highlight the importance of providing sustained additional support in clinical settings to parents and their children with DDs.

Friendship in Autism Spectrum Disorder Is Related to Diverse Developmental Changes Between Toddlerhood and Adolescence.

PURPOSE: Follow-up studies of children diagnosed with autism spectrum disorder (ASD) in early childhood that focus on friendship formation during adolescence are scarce. The present study focused on exploring characteristics possibly related to the ability to establish friendships during adolescence among children diagnosed with ASD in toddlerhood. METHODS: The cohort included 43 participants who underwent comprehensive assessments during toddlerhood and adolescence. Participants were divided into two groups [Friendship(+)/Friendship(-)] based on (1) adolescent social insight as assessed by professionals and (2) parental and adolescent self-reports regarding having or not having friends. No differences in IQ, ASD symptoms, or adaptive behavior during early childhood were found between the two groups. RESULTS: Different and better changes in social communication, adaptive socialization, and daily living skills were observed for the Friendship(+) group. Adolescents with ASD in the Friendship(+) group exhibited greater social independence. Attention-deficit/hyperactivity disorder incidence, anxiety symptom severity, and placement in mainstream or special education classes did not differ between the two groups. CONCLUSION: This long-term study highlights that for children with ASD, longitudinal growth in social communication and adaptive functioning is possible, highly important for and related to the development of the complex ability to establish friendship.

Sensory Processing in Children and Adolescents with Neurofibromatosis Type 1.

Despite the evidence of elevated autistic behaviors and co-occurring neurodevelopmental difficulties in many children with neurofibromatosis type 1 (NF1), we have a limited understanding of the sensory processing challenges that may occur with the condition. This study examined the sensory profile of children and adolescents with NF1 and investigated the relationships between the sensory profiles and patient characteristics and neuropsychological functioning. The parent/caregivers of 152 children with NF1 and 96 typically developing children completed the Sensory Profile 2 (SP2), along with standardized questionnaires assessing autistic behaviors, ADHD symptoms, internalizing symptoms, adaptive functioning, and social skills. Intellectual functioning was also assessed. The SP2 data indicated elevated sensory processing problems in children with NF1 compared to typically developing children. Over 40% of children with NF1 displayed differences in sensory registration (missing sensory input) and were unusually sensitive to and unusually avoidant of sensory stimuli. Sixty percent of children with NF1 displayed difficulties in one or more sensory modalities. Elevated autistic behaviors and ADHD symptoms were associated with more severe sensory processing difficulties. This first detailed assessment of sensory processing, alongside other clinical features, in a relatively large cohort of children and adolescents with NF1 demonstrates the relationships between sensory processing differences and adaptive skills and behavior, as well as psychological well-being. Our characterization of the sensory profile within a genetic syndrome may help facilitate more targeted interventions to support overall functioning.