Sensory processing in young children with visual impairments:Use and extension of the Sensory Profile

Background: Children with visual impairments (VI) are at risk for sensory processing difficulties. A widely used measure for sensory processing is the Sensory Profile (SP). However, the SP requires adaptation to accommodate for how children with VI experience sensory information. Aims: (1) To examine sensory processing patterns in young children with VI, (2) to develop VI-specific items to use in conjunction with the SP and to determine internal consistency and construct validity of these newly developed items, and (3) to examine the association between sensory processing and and emotional and behavioral problems. Methods: Twenty-six VI-specific items were added to the SP. The SP and these items were completed by caregivers of 90 children with VI between 3 and 8 years old. The Child Behavior Checklist (CBCL) was used to assess emotional and behavioral problems. Results: Three- to five-year-old children with VI have significantly more difficulties in three quadrants of the SP as compared to the norm group. Six- to eight-year-old children with VI have more difficulties in all quadrants. A reliable and valid VI-specific set of 15 items was established following psychometric evaluation. Age-related differences were found in the associations between the SP and CBCL. Conclusion: Although further validation is recommended, this evaluation of the VI-specific item set suggests it has the potential to be a useful measure for children with VI

Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1:A Cross-Syndrome Comparison

Objective: The etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in symptoms across individuals. This study compares ASD symptomatology between monogenetic syndromes with a high ASD prevalence, in order to reveal syndrome specific vulnerabilities and to clarify how genetic variations affect ASD symptom presentation. Methods: We assessed ASD symptom severity in children and young adults (aged 0-28 years) with Fragile X Syndrome (FXS, n = 60), Angelman Syndrome (AS, n = 91), Neurofibromatosis Type 1 (NF1, n = 279) and Tuberous Sclerosis Complex (TSC, n = 110), using the Autism Diagnostic Observation Schedule and Social Responsiveness Scale. Assessments were part of routine clinical care at the ENCORE expertise center in Rotterdam, the Netherlands. First, we compared the syndrome groups on the ASD classification prevalence and ASD severity scores. Then, we compared individuals in our syndrome groups with an ASD classification to a non-syndromic ASD group (nsASD, n = 335), on both ASD severity scores and ASD symptom profiles. Severity scores were compared using MANCOVAs with IQ and gender as covariates. Results: Overall, ASD severity scores were highest for the FXS group and lowest for the NF1 group. Compared to nsASD, individuals with an ASD classification in our syndrome groups showed less problems on the instruments' social domains. We found a relative strength in the AS group on the social cognition, communication and motivation domains and a relative challenge in creativity; a relative strength of the NF1 group on the restricted interests and repetitive behavior scale; and a relative challenge in the FXS and TSC groups on the restricted interests and repetitive behavior domain. Conclusion: The syndrome-specific strengths and challenges we found provide a frame of reference to evaluate an individual's symptoms relative to the larger syndromic population and to guide treatment decisions. Our findings support the need for personalized care and a dimensional, symptom-based diagnostic approach, in contrast to a dichotomous ASD diagnosis used as a prerequisite for access to healthcare services. Similarities in ASD symptom profiles between AS and FXS, and between NF1 and TSC may reflect similarities in their neurobiology. Deep phenotyping studies are required to link neurobiological markers to ASD symptomatology

Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)

In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)—and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10.9%, which is clearly higher than in the general population. This prevalence rate is presumably more accurate than in previous studies that examined children with NF1 with an ASD presumption or solely based on screening instruments. The combined observational- and screening based classifications demonstrated the highest positive predictive value for DSM-IV diagnosis, highlighting the importance of using both instruments in children with NF1

Prognostic Factors for Long-term Aesthetic Outcome of Infantile Haemangioma Treated with Beta-blockers

Parents of infants treated with beta-blockers for infantile haemangioma are often concerned about the long-term aesthetic outcome. This cross-sectional study assessed the influence on the long-term aesthetic outcome of characteristics of the infantile haemangioma, the beta-blocker treatment, and the infant. The study included 103 children aged 6-12 years, treated with beta-blockers (propranolol or atenolol) for infantile haemangioma during infancy (age at treatment initiation ≤1 year) for ≥6 months. Dermatologists and parents scored the Patient Observer Scar Assessment Scale, and the child scored a visual analogue scale. Dermatologists identified whether telangiectasia, fibrofatty tissue, and atrophic scar tissue were present. The long-term aesthetic outcome of infantile haemangioma was judged more negatively by dermatologists and parents in case of a superficial component, ulceration, older age at treatment initiation, higher cumulative dose, and/or shorter follow-up time. According to children, infantile haemangioma located on the head had better aesthetic outcome than infantile haemangioma located elsewhere. Close monitoring, particularly of infantile haemangioma with a superficial component, is essential for early initiation of treatment, and to prevent or treat ulceration. These outcome data can support parental counselling and guide treatment strategy.</p

Attention and Motor Learning in Adult Patients with Neurofibromatosis Type 1

Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that is associated with cognitive disabilities, including attention and motor learning problems. These disabilities have been extensively studied in children with NF1 but limited studies have been performed in adults. Method: Attention, motor learning and intellectual performance were studied with neuropsychological tasks in 32 adults with NF1 and 32 controls. Results: The NF1 and control group performed similarly on attention and motor learning tasks, although controls had shorter reaction times than adults with NF1 during the motor learning task (t[60] = −2.20, p =.03). Measures of attention or motor learning were not significantly associated with reduced intellectual performance in NF1. Conclusion: In contrast to many studies in children with NF1, our findings did not provide evidence for presence of attention or motor learning problems in adults with NF1 in neuropsychological tasks. Our observations may be of clinical importance to determine treatment focus in adults with NF1

Psychometric Performance of the Stony Brook Scar Evaluation Scale and SCAR-Q Questionnaire in Dutch Children after Pediatric Surgery

Introduction: The growing population of survivors following pediatric surgery emphasizes the importance of long-term follow-up. The impact of surgical scars on daily life can be evaluated through patient-reported outcome measurements. The Stony Brook Scar Evaluation Scale (SBSES) and SCAR-Q questionnaire are two interesting instruments for this purpose. We evaluated their psychometric performance in Dutch children after pediatric surgery. Methods: After English–Dutch translation, we evaluated—following the COSMIN guidelines—the feasibility, reliability (internal and external), and validity (construct, criterion, and convergent) of the SBSES and SCAR-Q in Dutch patients &lt; 18 years old with surgical scars. Results: Three independent observers completed the SB for 100 children (58% boys, median age 7.3 (IQR 2.5–12.1) years) in whom surgery had been performed a median of 2.8 (0.5–7.9) years ago. Forty-six of these children (61% boys, median age 12.1 (9.3–16.2) years) completed the SCAR-Q. Feasibility and internal reliability (Cronbach’s alpha &gt; 0.7) was good for both instruments. For the SB, external reliability was poor to moderate (interobserver variability: ICC 0.46–0.56; intraobserver variability: ICC 0.74). For the SCAR-Q, external reliability was good (test–retest agreement: ICC 0.79–0.93). Validity tests (construct, criterion, and convergent) showed poor to moderate results for both instruments. Conclusions: The Dutch-translated SBSES and SCAR-Q showed good feasibility and internal reliability. External reliability and validity were likely affected by differences in conceptual content between the questionnaires. Combining them would provide insight in the impact of scars on patients. Implementation of these instruments in longitudinal follow-up programs could provide new insights into the long-term psychological outcome after pediatric surgery.</p

Children with specific language impairment show difficulties in sensory modulation

The purpose of this study is to investigate whether a group of 116 Dutch children with specific language impairment (SLI) shows differences in sensory processing when compared to a control group of age-matched 4-7-year-old typical peers. The Sensory Profile-NL-a standardized questionnaire of 125 items-was completed by caregivers of children in both groups. Children with SLI differed significantly from the control group on all 14 section scores and 4 quadrant scores of the Sensory Profile-NL. The effect size of the difference in sensory modulation patterns of children with and without SLI on this measure was large (Cohen's d ≥ 0.80). Difficulties in sensory modulation can be characterized as frequent co-morbid problems in children with SLI.</p

Behavioral and cognitive outcomes for clinical trials in children with neurofibromatosis type 1

To evaluate the appropriateness of cognitive and behavioral outcome measures in clinical trials in neurofibromatosis type 1 (NF1) by analyzing the degree of deficits compared to reference groups, test-retest reliability, and how scores correlate between outcome measures.status: publishe

Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1:A Cross-Syndrome Comparison

Objective: The etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in symptoms across individuals. This study compares ASD symptomatology between monogenetic syndromes with a high ASD prevalence, in order to reveal syndrome specific vulnerabilities and to clarify how genetic variations affect ASD symptom presentation.Methods: We assessed ASD symptom severity in children and young adults (aged 0-28 years) with Fragile X Syndrome (FXS, n = 60), Angelman Syndrome (AS, n = 91), Neurofibromatosis Type 1 (NF1, n = 279) and Tuberous Sclerosis Complex (TSC, n = 110), using the Autism Diagnostic Observation Schedule and Social Responsiveness Scale. Assessments were part of routine clinical care at the ENCORE expertise center in Rotterdam, the Netherlands. First, we compared the syndrome groups on the ASD classification prevalence and ASD severity scores. Then, we compared individuals in our syndrome groups with an ASD classification to a non-syndromic ASD group (nsASD, n = 335), on both ASD severity scores and ASD symptom profiles. Severity scores were compared using MANCOVAs with IQ and gender as covariates.Results: Overall, ASD severity scores were highest for the FXS group and lowest for the NF1 group. Compared to nsASD, individuals with an ASD classification in our syndrome groups showed less problems on the instruments' social domains. We found a relative strength in the AS group on the social cognition, communication and motivation domains and a relative challenge in creativity; a relative strength of the NF1 group on the restricted interests and repetitive behavior scale; and a relative challenge in the FXS and TSC groups on the restricted interests and repetitive behavior domain.Conclusion: The syndrome-specific strengths and challenges we found provide a frame of reference to evaluate an individual's symptoms relative to the larger syndromic population and to guide treatment decisions. Our findings support the need for personalized care and a dimensional, symptom-based diagnostic approach, in contrast to a dichotomous ASD diagnosis used as a prerequisite for access to healthcare services. Similarities in ASD symptom profiles between AS and FXS, and between NF1 and TSC may reflect similarities in their neurobiology. Deep phenotyping studies are required to link neurobiological markers to ASD symptomatology.</p