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Reliable and valid cognitive outcome measures, including examiner-administered and computer-facilitated assessments of processing speed and reaction time, are necessary for future clinical trials that include individuals with Down syndrome (DS). The current study evaluated the score distributions and psychometric properties of four examiner-administered and three computerized processing speed and reaction time measures. Participants included 97 individuals with DS, aged 6 to 17 (M = 12.6, SD = 3.3). Two examiner-administered measures (Differential Ability Scales-II Rapid Naming and Cat/dog Stroop Congruent) met most predetermined psychometric criteria. Other assessments demonstrated good test-retest reliability and had negligible practice effects but lacked adequate feasibility. Recommendations for using processing speed and reaction time assessments in research and suggestions for modifications of measures are discussed.

Political science internships are a valuable tool through which interns are able to gain relevant work experience while also gaining hands-on experience with material from their course work. One key element to a successful internship is an interns' ability to meet the needs of the sponsoring organization in terms of the skills and tools they hold. Previous research has focused on those skills that make interns more valuable to sponsoring organizations, we know little about interns' ability to evaluate themselves on those skillsets. In this paper we use data from on-site supervisor evaluations of interns' performance and interns' own evaluations of their performance to investigate how accurately interns evaluate their performance in their internship. Interns' ability to accurately reflect upon their performance is critical for their ability to improve and adapt to changing desires. Findings from this research may suggest potential interventions to help interns' further improve their performance.

Brady is a 5-year-old boy who was seen in a multidisciplinary clinic for evaluation of deaf and hard of hearing children. Brady was born full-term after an uncomplicated pregnancy. He was referred for audiological evaluation after his newborn hearing screen and was diagnosed with a severe-to-profound bilateral sensorineural hearing difference at age 6 months. He has no other medical history.Brady was referred for developmental evaluation after completing his medical workup and cochlear implantation at an outside institution. No etiologic cause of his hearing difference was identified, and his diagnosis was presumed to be genetic and nonsyndromic. He had previously undergone right cochlear implantation at age 14 months and left cochlear implantation at age 23 months. Brady received speech and language therapy, with an emphasis on spoken language through early intervention, and met all motor and social milestones at appropriate times. Despite therapy, he continued to show delays in meeting language and communication milestones. Given concerns over persistent language delays after cochlear implantation, he underwent an interdisciplinary speech, language, and psychological evaluation at 3 years 4 months old. At the time of his evaluation, he was noted to have robust social skills but significantly delayed expressive and receptive language skills with language use limited to single words.After the initial evaluation, he was enrolled at a school for the deaf with instruction provided in both spoken English and American Sign Language. In follow-up evaluation at age 4 years 8 months, Brady was described as happy, cooperative, and eager to connect socially. It was noted that he had age-appropriate visual spatial cognitive and motor skills and had made some gains compared with prior assessments in both spoken and sign language. Notably, however, his language abilities and most areas of adaptive living skills remained below what would be expected by his developmental age and in some domains plateaued compared with prior assessments. He was able to produce some words and signs and responded to all prompts using only single words or signs and gestures. Brady's parents present today to your multidisciplinary clinic asking to understand why his language has not progressed further and to learn how they can help him reach his full potential.

Approximately one in every 700 babies in the United States is born with Down syndrome, or 0.14%. Children with Down syndrome have cognitive impairment and congenital malformations necessitating frequent occurrences of general anesthesia and surgery. The thoughtful perioperative care of children with Down syndrome is relevant and acutely complex for the pediatric anesthesiologist. Behavior, sedation, hypotonia, upper airway obstruction, venous access, and bradycardia are omnipresent concerns apart from the surgical pathology. Down syndrome is also associated with autonomic nervous system dysfunction, a comorbidity that is overlooked in discussions of perioperative care and is described thus far in adults. Autonomic nervous system function or dysfunction may explain the phenotypical features of the perioperative challenges listed above. For this reason, understanding the development and measurement of autonomic nervous system function is important for the pediatric anesthesiologist. Definition and quantification of sympathetic and parasympathetic function will be reviewed.

Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder. Family-centered care (FCC) is a healthcare delivery approach that aims to create an equal partnership between caregivers and providers. FCC has been shown to improve parental wellbeing, their knowledge of the condition and care, and improve their feelings of self-efficacy and personal control. The purpose of this study was to explore the healthcare experiences of family caregivers of children and adults with RTS to understand the issues they encounter when working with medical professionals and to examine their perspectives on how to improve FCC. Primary family caregivers of individuals with RTS took an online mixed-method survey that contained three primary components: a demographic survey, the Measures of Processes of Care-20 (MPOC-20) [a measure of the FCC an individual feels they receive], and a qualitative assessment of negative and positive interactions with medical professionals and priority areas for improvement. Qualitative data were analyzed using thematic analysis. Quantitative data were analyzed with descriptive statistics. An analysis of variance test was used to determine whether values statistically differed between different-age groups of individuals with RTS being cared for. Sixty-three caregivers completed the survey. The average score of the Providing General Information subscale of the MPOC-20 was 3.18, lower than that seen in other studies. The average scores of the other subscales of the MPOC-20 ranged from 4.60 to 5.02, comparable to other studies of caregivers of children with other medical conditions. All aspects of FCC were ranked as important by caregivers. There were no differences in MPOC-20 values between those caring for the individuals with RTS in different-age groups reviewed. In the qualitative responses, parents noted that experiences with medical professionals would be improved if healthcare providers actively provided FCC, collaborated with parents and other providers, respected caregivers' time and breadth of knowledge and lived experience, gave a more balanced description of the condition, showed greater respect toward their loved ones and included them in the conversation, and made an effort to learn about RTS. The changes that parents would like to see in their child's care were not specific to one discipline and could be implemented by all healthcare specialists. While caregivers report that they receive moderate levels of FCC, they indicated that areas of FCC could be improved.

OBJECTIVE: This study aimed to evaluate ADHD symptom patterns among children with Down syndrome with or without ADHD as well as typically developing children with ADHD. METHOD: Parents and teachers rated symptoms of inattention, hyperactivity, and general behavioral concerns for 22 children with Down syndrome and comorbid diagnoses of ADHD (DS+ADHD), 66 gender- and age-matched children with Down syndrome with no diagnosis of ADHD (DS-ADHD), and 66 gender- and age-matched typically developing children with ADHD (TD+ADHD). Children with Down syndrome were recruited from the community. Typically developing children with ADHD were recruited from a speciality clinic evaluating for ADHD. RESULTS: Parents tended to report higher scores of inattention and hyperactivity for typically developing children with ADHD compared to children with Down syndrome and no ADHD. Although mean ADHD symptom summary scores were not significantly different in DS+ADHD and DS-ADHD, specific parent report items (e.g., distractibility and being “on the go”) did tend to differentiate these groups. In contrast, teachers tended to report higher inattention and hyperactivity scores for DS+ADHD compared to both DS-ADHD and TD+ADHD. Specific teacher-reported items tending to differentiate DS+ADHD and DS-ADHD included difficulties following through on tasks, avoiding tasks, leaving one’s seat, and excessive talking. CONCLUSION: Variability in response patterns between parent- and teacher-reports for children with and without Down syndrome highlight the need to evaluate ADHD symptoms across environments. Our findings also suggest specific items that may particularly helpful in distinguishing children with Down syndrome who do and do not have ADHD, although replication is needed.

Background There is a critical need for the psychometric evaluation of outcome measures to be used in clinical trials targeting cognition in Down syndrome (DS). This study examines a specific cognitive skill that is of particular importance in DS, working memory, and the psychometric properties of a set of standardised measurements to assess working memory in individuals with DS. Methods Ninety children and adolescents ages 6 to 18 years old with DS were assessed on a selection of verbal and visuospatial working memory subtests of standardised clinical assessments at two time points to examine feasibility, distributional qualities, test-retest reliability and convergent validity against a priori criteria. Caregivers also completed an adaptive behaviour questionnaire to address working memory subtests' associations with broader developmental functioning. Results The Stanford Binet-5 Verbal Working Memory, Differential Ability Scales-2 Recognition of Pictures, Stanford Binet-5 Nonverbal Working Memory and Wechsler Intelligence Scale for Children-5 Picture Span measures met the most psychometric criteria overall across the full age and IQ range of the study. Although Differential Ability Scales-2 Recall of Sequential Order and Differential Ability Scales-2 Recall of Digits Backward met the fewest a priori criteria, follow-up analyses suggested greater feasibility in specific age and IQ ranges. Conclusions Several working memory measures appear to be psychometrically sound and appropriate for use in clinical trials for children with DS, especially when focusing on raw scores. However, floor effects on standard scores and feasibility of some measures were problematic. Guidelines for use of the working memory subtests with this population are provided.

Children who are deaf and hard of hearing (DHH) often demonstrate pragmatic language difficulties which can impact academic and social outcomes. This randomized control trial for DHH children, ages 3–12 years, explored the Technology-Assisted Language Intervention (TALI), incorporating augmentative and alternative communication technology (AAC) into traditional speech/language therapy, compared to treatment-as-usual (TAU) to determine impact on pragmatics. Pragmatic outcome measures included parent reported Pragmatics Profile of the CELF-5 (for children age ≥5 years) and CELF-P Descriptive Pragmatics Profile (for children

OBJECTIVE Literacy skill development in deaf or hard of hearing (DHH) children is essential for success in school and beyond. Our objective was to evaluate the association between age of early intervention (EI) enrollment for DHH children and emergent literacy in preschool. METHODS This was a population-based study that leveraged state public health and education data on all children identified with hearing loss. The sample included children born between 2008 and 2014 enrolled in EI for hearing loss who received preschool supports (years 2011-2014) through the Ohio Department of Education. The Get it! Got it! Go!, measuring emergent literacy domains of picture naming, rhyming, and alliteration, was administered during preschool in fall and spring. Exposure was enrollment into EI before age 6 months (early) versus at/after 6 months (later). Propensity score matching and mixed model analyses were used to examine associations between EI enrollment and outcomes over time. Model least square means with 95% confidence intervals (CIs) were reported. RESULTS One hundred two successful matches were made for 256 preschoolers. Children enrolled in EI early had significantly higher mean scores (mean [95% CI]) over time for emerging literacy domains of picture naming (2.42 [0.47-4.37]), rhyming (1.2 [0.35-2.06]), and alliteration (0.61 [0.15-1.07]) compared with later enrolled children. Children enrolled early had significantly higher emergent literacy scores at entry, although literacy development was similar between groups. CONCLUSION Children enrolled in EI before age 6 months had consistently higher scores in emergent literacy components over time compared with children enrolled at/after age 6 months.

PURPOSE: There is a gap in knowledge regarding the use of emergency services by pediatric spina bifida patients. The goal of this study was to describe Emergency Department utilization patterns in this population. METHODS: Through a retrospective observational study, patients with spina bifida who visited the emergency department during a four-year period were identified; medical and demographic information was obtained though the Centers for Disease Control National Spina Bifida Patient Registry. Chief complaints and final diagnoses of visits were classified and related to medical needs of spina bifida to determine the appropriate care level. RESULTS: Among 303 children within the registry, 161 patients (53%) accounted for 579 visits. 70% of visits were for spina bifida-related complaints. Approximately half (51.7%) had a shunt-related chief complaint, although final diagnosis was largely unrelated to the shunt. Admission rate was 39%, higher than institutional baseline, and largely represented by genitourinary (GU) complaints. CONCLUSION: Pediatric patients with spina bifida presenting to a single center emergency department were most likely to present with shunt and urinary concerns; these patients were most likely to be admitted. This potentially suggests that improving outpatient care for bladder management may decrease emergency department use among this population.

We quantified the intensity of early intervention (EI) services allocated to 1262 children who were deaf or hard of hearing (DHH) within a state program and identified factors associated with intervention intensity. Child specific data were collected on children born between 2008 and 2014. Data from Individualized Family Service Plans of children enrolled in Part C EI programming were evaluated for the type and duration of services during their EI enrollment. Associations between EI intensity and child/family variables were examined. Median age of EI enrollment was 5.3 months. The most frequently received services included primary service coordination, specialized DHH service, special instruction, language therapy, and family training; 60% of children received 4 or more different EI services. The median service intensity was 138.1 min per month across all EI years. The factors associated with higher EI intensity included severe hearing loss, bilateral hearing loss and presence of a disability. Children enrolled in EI at later ages received higher intensity of specialized DHH services, suggesting a need to “catch up” due to late acquisition of services. Evaluating EI service intensity broadens our understanding of effective components of state-based programs that support the developmental needs of children who are DHH.

Sleep problems have a bi-directional impact on the daytime performance of children, parental well-being, and overall family functioning in the general population. Children with Down syndrome (DS) are at a high risk of sleep problems, yet the relationship between sleep problems, adaptive functioning, and family stress in children with DS is not well documented. We examined the relationship between sleep (i.e., duration and quality) and child and parent/family functioning. Sixty-six children with DS wore an actigraph for a week to assess their sleep duration and sleep efficiency. Their parents completed ratings on child sleep duration and parasomnias, child adaptive functioning, parental depression and sleep, and family stress. The parents’ reports of their children’s sleep duration were associated with parental depressive symptoms. The parents’ reports of their children’s restless sleep behaviors were associated with poorer performances in child-compliant/calm behaviors, worse parental sleep, and negative parental feelings and sibling relationships. The findings from actigraph measures of the children’s sleep demonstrated that greater sleep efficiency was associated with greater child adaptive functioning and fewer parental depressive symptoms. The study findings provide preliminary evidence that sleep problems are related to child adaptive functioning, parental functioning, and family stress in children with DS.

OBJECTIVES. To compare the percentage and mean age of children with Down syndrome (DS) who underwent polysomnography (PSG) to evaluate for obstructive sleep apnea (OSA) before and after the introduction of the American Academy of Pediatrics guidelines recommending universal screening by age 4 years. STUDY DESIGN. Retrospective cohort study. SETTING. Single tertiary pediatric hospital. METHODS. This study is a review of patients with DS seen in a subspecialty clinic. Children born preguidelines (2000-2006) were compared with children born postguidelines (2007-2012) regarding percentage receiving PSG, age at first PSG, and rate of OSA. RESULTS. We included 766 children with DS; 306 (40%) were born preguidelines. Overall, 61% (n = 467) underwent PSG, with a mean ± SD age of 4.2 ± 2.9 years at first PSG; 341 (44.5%) underwent first PSG by age 4 years. The rate of OSA (obstructive index ≥1 event/hour) among children undergoing first PSG was 78.2%. No difference was seen in the percentage receiving PSG preguidelines (63.4%) versus postguidelines (59.4%, P = .26). The mean age at the time of first PSG was 5.3 ± 3.5 years preguidelines versus 3.4 ± 2.0 years postguidelines (P < .0001). Children in the postguidelines cohort were more likely to undergo first PSG during the ages of 1 through 4 years (67.4% vs 52.1%, P < .0001). There was no difference in rates of OSA between the pre- and postguidelines cohorts (79.8% vs 75.9%, P = .32). CONCLUSIONS. Nearly two-thirds of children with DS (61%) underwent PSG overall, with a significant shift toward completion of PSG at an earlier age after the introduction of the American Academy of Pediatrics guidelines for universal screening for OSA.

OBJECTIVES: To determine if neurodevelopmental deficits in children with single-ventricle physiology change with age and early developmental scores predict 6-year outcomes. METHODS: In the Single Ventricle Reconstruction Trial, Bayley Scales of Infant Development, Second Edition, were administered at 14 months of age, and parents completed the Behavior Assessment System for Children, Second Edition (BASC-2) annually from the ages of 2 to 6 years. Scores were classified as average, at risk, or impaired. We calculated sensitivities, specificities, and positive and negative predictive values of earlier tests on 6-year outcomes. RESULTS: Of 291 eligible participants, 244 (84%) completed the BASC-2 at 6 years; more Single Ventricle Reconstruction participants than expected on the basis of normative data scored at risk or impaired on the BASC-2 Adaptive Skills Index at that evaluation (28.7% vs 15.9%; P < .001). Children with Adaptive Skills Composite scores

OBJECTIVES. To compare the demographic and clinical characteristics of children with Down syndrome who did and did not receive polysomnography to evaluate for obstructive sleep apnea after publication of the American Academy of Pediatrics’ guidelines recommending universal screening by age 4 years. STUDY DESIGN. Retrospective cohort study. SETTING. Single tertiary pediatric hospital. METHODS. Review was conducted of children with Down syndrome born between 2007 and 2012. Children who obtained polysomnography were compared with children who did not, regarding demographic data, socioeconomic status, and comorbidities. RESULTS. We included 460 children with Down syndrome; 273 (59.3%) received at least 1 polysomnogram, with a median age of 3.6 years (range, 0.1–8.9 years). There was no difference in the distribution of sex, insurance status, or socioeconomic status between children who received polysomnography and those who did not. There was a significant difference in race distribution (P = .0004) and distance from home to the medical center (P < .0001) between groups. Among multiple medical comorbidities, only children with a history of hypothyroidism (P = .003) or pulmonary aspiration (P = .01) were significantly more likely to have obtained polysomnography. CONCLUSIONS. Overall, 60% of children with Down syndrome obtained a polysomnogram. There was no difference between groups by payer status or socioeconomic status. A significant difference in race distribution was noted. Proximity to the medical center and increased medical need appear to be associated with increased likelihood of obtaining a polysomnogram. This study illustrates the need for improvement initiatives to increase the proportion of patients receiving guideline-based screening.

In this article, we review relational factors in early childhood believed to contribute in unique ways to pragmatic skill development in deaf and hard of hearing (DHH) infants and toddlers. These factors include attending to infant interactions with caregivers and others, supporting development of theory of mind through play and use of mental state language (ie, describing one’s own or others’ thoughts, feelings, and beliefs), and providing accessible opportunities for social interaction. On the basis of a review of the literature and clinical experience, we offer prescriptive strategies for supporting DHH children’s development in these areas. To improve outcomes for DHH children, medical care providers and allied health professionals have a responsibility to support the development of young DHH children’s pragmatic abilities by understanding these variables, coaching caregivers regarding their importance, and facilitating referrals for support when necessary.

CHARGE syndrome (OMIM 214800) is a condition characterized by multisystem involvement with CHD7 pathogenic mutations leading to disease in the majority of patients. Discovery of the molecular cause of CHARGE unmasked a larger phenotypic spectrum than was previously appreciated. Within our interdisciplinary CHARGE syndrome program, we sought to characterize our CHD7-positive CHARGE cohort without coloboma or choanal atresia, highlighting complications and outcomes. We describe 18 individuals with CHD7-confirmed diagnosis from 15 families. The most sensitive finding in the cohort was temporal bone malformations, present in 13/15 individuals. Individuals had an average of 1.6 major features and 3.3 minor features defined by the Blake et al. guidelines. Despite lack of major features or major malformations, the majority of individuals continued to have difficulties with pneumonia, aspiration, secretion management and motility issues that greatly impacted their lives. Our findings illustrate the need for molecular testing and timely recognition given that the major co-morbidities are frequently experienced by patients with the mildest clinical spectrum of CHARGE syndrome.

What constitutes a ‘quality’ college intern? Interning is an integral part of the student experience at George Washington University. Although the benefits of interning are well known, we know less about the qualities and skills that make a desirable intern. In this research, we examine what internship sponsors desire in a George Washington University political science student intern. We analyze quantitative and qualitative sponsor evaluations of the student intern’s performance looking at dependability, work ethic, attendance, usefulness to the organization, and level of initiative. The analysis is done by the intern’s gender and by the organizational category. Through this research, we offer a greater understanding of the role of internships to undergraduate education, as well as provide insight into interns’ performance while completing their internships.

The type 2 lysine methyltransferases KMT2C and KMT2D are large, enzymatically active scaffold proteins that form the core of nuclear regulatory structures known as KMT2C/D COMPASS complexes (complex of proteins associating with Set1). These evolutionarily conserved proteins regulate DNA promoter and enhancer elements, modulating the activity of diverse cell types critical for embryonic morphogenesis, central nervous system development, and post-natal survival. KMT2C/D COMPASS complexes and their binding partners enhance active gene expression of specific loci via the targeted modification of histone-3 tail residues, in general promoting active euchromatic conformations. Over the last 20 years, mutations in five key COMPASS complex genes have been linked to three human congenital syndromes: Kabuki syndrome (type 1 [KMT2D] and 2 [KDM6A]), Rubinstein-Taybi syndrome (type 1 [CBP] and 2 [EP300]), and Kleefstra syndrome type 2 (KMT2C). Here, we review the composition and biochemical function of the KMT2 complexes. The specific cellular and embryonic roles of the KMT2C/D COMPASS complex are highlight with a focus on clinically relevant mechanisms sensitive to haploinsufficiency. The phenotypic similarities and differences between the members of this new family of disorders are outlined and emerging therapeutic strategies are detailed.

There is a significant lack of evidence guiding our understanding of the needs of families of children who are deaf/hard of hearing (Deaf/HH) with an autism spectrum disorder (ASD). Much of our current knowledge is founded in case report studies with very small numbers of children with the dual diagnosis.The purpose of this study was to gain an understanding of the factors relating to caregiver stress and needs (i.e., supports and interventions) in families of children who are Deaf/HH with ASD.Comparison groups of families of children who were Deaf/HH, families with a hearing child with ASD, and families of children who were Deaf/HH with ASD were administered standardized questionnaires of stress with brief qualitative questionnaires focusing on family-identified needs.Six families of children with the dual diagnosis, four families of children who were Deaf/HH, and three families of children with ASD.Surveys included demographic and support questionnaires, the Parenting Stress Index (PSI), the Pediatric Hearing Impairment Caregiver Experience, and a qualitative questionnaire.Families of children who were Deaf/HH with ASD had a higher median total stress score on the PSI as compared to families of children who were Deaf/HH only (58.5 versus 41.5, respectively; p = 0.02) and higher Child Domain scores (60 versus 43, respectively; p = 0.02), indicating higher levels of stress in families of children with the dual diagnosis. The families of children who were Deaf/HH with ASD reported similar levels of stress as families of children with ASD.Families of children who are Deaf/HH with an ASD experience stress and describe similar needs and priorities as families of hearing children with ASD. This suggests the needs related to having an autism spectrum disorder are of high priority in families of children with the dual diagnosis.

OBJECTIVE Psychotropic medications are frequently prescribed to children with autism spectrum disorder (ASD), but little is known about the prescribing practices of developmental-behavioral pediatricians (DBPs). Our objective was to determine whether clinical site, age, insurance, or comorbidities influenced DBPs prescribing psychotropic medication for children with ASD. METHODS A retrospective analysis was performed using electronic health record data of all patients with ASD seen at 3 academic developmental-behavioral pediatrics (DBP) clinical programs from January 2010 to December 2011. Data included age, diagnoses, primary insurance, and medications prescribed. Factors associated with prescribing psychotropic medication were examined using generalized estimating equations. RESULTS Sites varied in the frequency with which they prescribed psychotropic medication for children with ASD (site 1: 33.1%, site 2: 49.3%, site 3: 4.0%; p < .001). We found that the following factors predicted prescribing of psychotropic medications: comorbidities (odds ratio [OR]: 2.87; 95% confidence interval [CI], 2.58-3.18), age, and primary insurance. However, the impact of insurance depended on age. For 3- to 5-year-old children, those on Medicaid were more likely to be prescribed psychotropic medications than those with private insurance (OR: 1.65; 95% CI, 1.29-2.12). This was particularly true for alpha-2-adrenergic agonists (OR: 2.48; 95% CI, 1.56-3.92) and atypical antipsychotics (OR: 2.57; 95% CI, 1.46-4.55). CONCLUSION There are large variations in prescribing psychotropic medication to children with ASD at 3 academic DBP programs. Further research is needed to understand factors that contribute to higher use of psychotropic medication in young children with Medicaid.

Pilot study to assess the effect of augmentative and alternative communication technology to enhance language development in children who are deaf or hard-of-hearing.Five children ages 5-10 years with permanent bilateral hearing loss who were identified with language underperformance participated in an individualized 24-week structured program using the application TouchChat WordPower on iPadsThe baseline median mean length of utterance was 2.41 (range 1.09-6.63; mean 2.88) and significantly increased over time (p = 0.002) to a median of 3.68 at final visit (range 1.97-6.81; mean 3.62). At baseline, the median total number of words spoken per language sample was 251 (range 101-458), with 100 (range 36-100) different words spoken. Total words and different words significantly increased over time (β = 26.8 (7.1), p = 0.001 for total words; β = 8.0 (2.7), p = 0.008 for different words). Mean turn length values also slightly increased over time.Using augmentative and alternative communication technology on iPads

The type 2 lysine methyltransferases KMT2C and KMT2D are large, enzymatically active scaffold proteins that form the core of nuclear regulatory structures known as KMT2C/D COMPASS complexes (complex of proteins associating with Set1). These evolutionarily conserved proteins regulate DNA promoter and enhancer elements, modulating the activity of diverse cell types critical for embryonic morphogenesis, central nervous system development, and post-natal survival. KMT2C/D COMPASS complexes and their binding partners enhance active gene expression of specific loci via the targeted modification of histone-3 tail residues, in general promoting active euchromatic conformations. Over the last 20 years, mutations in five key COMPASS complex genes have been linked to three human congenital syndromes: Kabuki syndrome (type 1 [KMT2D] and 2 [KDM6A]), Rubinstein-Taybi syndrome (type 1 [CBP] and 2 [EP300]), and Kleefstra syndrome type 2 (KMT2C). Here, we review the composition and biochemical function of the KMT2 complexes. The specific cellular and embryonic roles of the KMT2C/D COMPASS complex are highlight with a focus on clinically relevant mechanisms sensitive to haploinsufficiency. The phenotypic similarities and differences between the members of this new family of disorders are outlined and emerging therapeutic strategies are detailed.

Background Despite early identification and intervention, many children who are deaf/hard of hearing (D/HH) demonstrate significant gaps in language development which can directly impact social interactions. Aims The objective of this pilot study was to determine whether integrating augmentative and alternative communication (AAC) core word language strategies into a speech-language therapy program for young children who are D/HH improves spoken language outcomes. Methods Eleven young children, median age 5 years 7 months (range 3y;11 m to 10y;8 m) with bilateral hearing loss were enrolled in a single-case experimental design and completed a 24-week intervention that incorporated high-tech AAC strategies into a traditional speech-language therapy model (technology-assisted language intervention or TALI). The goal of the TALI was to improve spoken language development in children who were D/HH. Language samples were collected throughout the study and pragmatic language was assessed pre and post intervention. Results At the end of 24 weeks, children demonstrated a significant increase in their mean length of utterance, number of words spoken, and mean turn length according to language samples. Children also made gains in their pragmatic skills pre to post intervention. Conclusions Results of this study suggest that using AAC core word language strategies delivered via iPad technology may support continued and rapid spoken language skill growth among young school-age children who are D/HH. By leveraging AAC technology, we are pioneering a structured and dynamic approach to language learning, building an effective foundation for concepts and grammar for children who are D/HH.

BACKGROUND: Children who are deaf or hard of hearing (D/HH) have improved language outcomes when enrolled in early intervention (EI) before the age of 6 months. Little is understood about the long-term impact of EI on outcomes of kindergarten readiness (K-readiness). The study objective was to evaluate the impact of EI before the age of 6 months (early) versus after 6 months (later) on K-readiness in children who are D/HH. METHODS: In this study, we leveraged data from the Ohio Early Hearing Detection and Intervention Data Linkage Project, which linked records of 1746 infants identified with permanent hearing loss born from 2008 to 2014 across 3 Ohio state agencies; 417 had kindergarten records. The Kindergarten Readiness Assessment was used to identify children as ready for kindergarten; 385 had Kindergarten Readiness Assessment scores available. Multiple logistic regression was used to investigate the relationship between K-readiness and early EI entry while controlling for confounders (eg, hearing loss severity and disability status). RESULTS: Children who were D/HH and entered EI early (n = 222; 57.7% of the cohort) were more likely to demonstrate K-readiness compared with children who entered EI later (33.8% vs 20.9%; P = .005). Children who entered early had similar levels of K-readiness as all Ohio students (39.9%). After controlling for confounders, children who entered EI early were more likely to be ready for kindergarten compared with children who entered later (odds ratio: 2.02; 95% confidence interval 1.18–3.45). CONCLUSIONS: These findings support the sustained effects of early EI services on early educational outcomes among children who are D/HH. EI entry before the age of 6 months may establish healthy trajectories of early childhood development, reducing the risk for later academic struggles.

To describe the use of stimulants and alpha-2 agonists (A2As) for the treatment of preschool-aged children with attention-deficit hyperactivity disorder (ADHD) at 2 Developmental-Behavioral Pediatrics Research Network sites.Demographic information, diagnoses, and medications prescribed by developmental-behavioral pediatricians (DBPs) were extracted from the electronic health record for all outpatient visits from January 1, 2010, to December 31, 2011. The subset of visits for children aged 2 to 5 years who had a diagnosis of ADHD was included in this analysis. Multivariable models were constructed to identify factors associated with prescribing stimulants and A2As.Over the 2-year period, 984 children with a diagnosis of ADHD were seen at 1779 visits. Of the 984 children, 342 (34.8%) were prescribed a stimulant, and 243 (24.7%) were prescribed an A2A. Both medications were prescribed at the same visit at least once during the 2-year period for 97 children (9.9%). Alpha-2 agonists were prescribed more often at site 2 than site 1 (OR [odds ratio] = 1.62, p = 0.015). Stimulants were more likely to be prescribed for older preschool-aged children (OR = 1.66, p0.001), and A2As were more likely to be prescribed for younger children (OR = 0.82, p = 0.02). Both stimulants and A2As were more likely to be prescribed to children with ADHD and comorbid conditions.Alpha-2 agonists are commonly used by some DBPs for preschool ADHD. Variation in the use of A2As across sites may indicate a lack of consensus on when to use these medications and suggests a need for comparative effectiveness research to better define the relative benefits and side effects of A2As and stimulants for the treatment of preschool ADHD.

(1) To examine language performance in the context of cognitive abilities in young children who are deaf or hard-of-hearing and (2) to identify factors associated with having a language underperformance, defined as a gap between the language standard score and the nonverbal IQ (NVIQ) standard score.Children 6 to 82 months of age with bilateral hearing loss were enrolled. Language performance was defined as a ratio of language skills relative to cognitive abilities with language underperformance defined as a ratio of language scores to NVIQ0.85.Among 149 children, approximately half had hearing loss that was clinically classified as mild or moderate, and over one-third received a cochlear implant. Participants had a mean NVIQ in the average range (95.4 [20.3]). Receptive language scores were significantly lower than their NVIQ by 10.6 points (p.0001). Among children with NVIQs 80 to 100, 62.5% had receptive scores85 and 50% had a language underperformance (ratio0.85). Among children with NIVQs100, 21.1% had receptive scores85 with 42% having a language underperformance. Children with language underperformance (n = 61, 41.5%) were more likely to have more severe levels of hearing loss, lower socioeconomic status, and be nonwhite.Many children early identified with hearing loss continue to demonstrate language underperformance, defined using their cognitive potential. Language deficits have a cascading effect on social functioning in children who are deaf or hard-of-hearing. This study highlights the need to understand a child's cognitive potential to adequately address language needs in existing intervention models.

With a high rate of additional learning needs in children with permanent hearing loss, this study sought to understand their educational and support needs. School information on 62 children with varying degrees of hearing loss attending an urban public school during a 5-year period was analysed to understand types and amounts of services over time. Individualized Education Programs and Multifactored Evaluation Plans reported the number of minutes provided by various providers, the types of services provided, and the goals set for each student. Although all students had a documented hearing loss, the services and intensity of services varied widely based on primary educational label. This is characterized by changes in goals, services, and intensity (minutes provided) from one year to the next if a child experienced an educational label change. Implications are far reaching for educators and administrators regarding determination of educational label for students with comorbid conditions.

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology. info:eu-repo/semantics/publishedVersion

The primary goal of the current study is to evaluate the concurrent validity of the Leiter International Performance Scale-Revised (Leiter-R Brief IQ) and Differential Ability Scales – Second Edition (DAS-II Nonverbal Reasoning Index) in a group of children who are deaf or hard-of-hearing. Knowing the breadth of cognitive tools appropriate for use in children who are deaf or hard-of-hearing is highly beneficial, given that clinical and school psychologists are often challenged to reliably assess cognitive functions in the context of hearing loss. Participants included 54 children between three and six years of age with permanent bilateral hearing loss. As part of the study, neurocognitive assessments were conducted by a pediatric neuropsychologist or licensed clinical psychologist with extensive experience administering assessments to children with developmental disabilities, including children with hearing loss. The Leiter-R Brief IQ score was similar to the DAS-II nonverbal reasoning index, with no significant difference in the mean scores across the two assessments. The severity of hearing loss was not correlated to either the Leiter-R or the DAS-II nonverbal IQ. Nearly a quarter of the children evaluated had meaningful intra-individual differences between scores on the Leiter-R and DAS-II that were more than one standard deviation from one another. Conducting accurate intellectual assessments in children who are deaf and hard-of-hearing is fundamental in determining and designing interventions and educational services. More comprehensive neuropsychological test batteries utilizing several tasks to assess a single domain (such as nonverbal reasoning) may be warranted for children who are deaf or hard-of-hearing.

Objectives Approximately 4% of children who are deaf or hard of hearing have co-occurring autism spectrum disorder (ASD). Making an additional diagnosis of ASD in this population can be challenging, given the complexities of determining whether speech/language and social delays can be accounted for by their hearing loss, or whether these delays might be indicative of a comorbid ASD diagnosis. This exploratory study described a population of 24 children with the dual diagnosis of ASD and hearing loss. Methods Children completed a comprehensive ASD evaluation using standardized autism diagnostic instruments (Autism Diagnostic Observation Schedule, language and psychological testing). Children with permanent hearing loss who had a developmental evaluation between 2001 and 2011 and were diagnosed with an ASD based on the results of that evaluation were included. Information on communication modality, language and cognitive abilities was collected. Results The median age of diagnosis was 14 months (range 1–71) for hearing loss and 66.5 months (range 33–106) for ASD. Only 25% (n = 6) children were diagnosed with ASD ≤48 months of age and 46% by ≤6 years. Twelve (50%) children were diagnosed with ASD, 11 were diagnosed with pervasive developmental disorder not otherwise specified and 1 child had Asperger's. Most (67%) had profound degree of hearing loss. Fourteen (58%) children had received a cochlear implant, while 3 children had no amplification for hearing loss. Nine (38%) of the 24 children used speech as their mode of communication (oral communicators). Conclusions Communication delays in children who are deaf or hard of hearing are a serious matter and should not be assumed to be a direct consequence of the hearing loss. Children who received cochlear implants completed a multidisciplinary evaluation including a developmental pediatrician, which may have provided closer monitoring of speech and language progression and subsequently an earlier ASD diagnosis. Because children who are deaf or hard of hearing with ASD are challenging to evaluate, they may receive a diagnosis of ASD at older ages.

To assess daily functional skills among young cochlear implant (CI) recipients with additional disabilities.Children with CI and developmental disabilities and a hearing control group containing similar ages and similar disabilities were enrolled in a cross-sectional study of language and functional skills. Daily functional skills were measured using the Pediatric Evaluation of Disability Inventory (PEDI), which provides standard and scaled scores in Self-Care, Mobility, and Social Functioning domains. Language was assessed using the Preschool Language Scales, 4th edition which provides standard scores and age equivalents.Fourteen children with CIs and seven hearing controls were included in this analysis. Most children in this study (90.5%) had cognitive disabilities and 57% had motor disabilities. Compared with the hearing controls, children with CIs were less likely to have functional independence in any PEDI domain. Children with CI had significantly lower median social functioning standard scores compared with controls (17.3 vs. 27.5, P = 0.009). After controlling for nonverbal cognitive abilities and language level, the difference was no longer significant (19.1 vs. 24, P = 0.3). Among children with CI, age at implant and duration with device were not associated (P0.4) with PEDI scores.Although children with CI and developmental disabilities had similar functional skills as hearing children with similar disabilities regarding the PEDI domains of Self-Care and Mobility, they had lower Social Function standard scores. This lower social functioning among children with implants may be related to lower language levels and possible language deficits seen in the CI group. Regular assessments of functional abilities coupled with language abilities are essential in providing every child with the opportunity for maximizing the potential for independence.

Objective To describe research training in Developmental-Behavioral Pediatrics (DBP) Fellowship Programs. Methods Thirty-five US-accredited DBP fellowships were contacted through the Developmental-Behavioral Pediatrics Research Network to complete an online survey on scholarly work and research training. Results With an 83% response rate, responding programs represented 110 (87 filled) fellowship positions. External funding for fellowship positions was minimal (11 positions fully funded, 13 funded above 50% of cost). Structured research training included didactic lectures, web-based training, university courses, direct mentoring, journal clubs, and required reading. Of the 159 fellows described, spanning a 5-year training period, the majority chose projects relying on their own data collection (57%) rather than joining an existing research study and focused on clinical research (86%). Among 96 fellows with completed scholarly work, 29% were observational/epidemiological studies, 22% secondary analyses of large data sets, 16% community-based research, and 15% survey design. A limited number of fellows pursued basic science, meta-analysis/critical appraisal of the literature, or analysis of public policy. Barriers to successful fellow research are as follows: lack of time and money, challenges in balancing clinical demands and protected faculty research time, limited faculty research opportunities, time or expertise, and a lack of infrastructure for fellow research mentoring. Conclusions The scholarly work of fellows in DBP fellowship programs has primarily focused on clinical research using observational/epidemiological research and secondary analysis of large data set. Barriers largely in faculty time and expertise for research mentoring and inadequate funding in programs that have high clinical demands and little resources for research efforts were noted.

INTRODUCTION: Children with dual sensory impairments are receiving cochlear implants; however, little is known regarding their language outcomes. MATERIALS AND METHODS: Children between the ages of 6 months and 8 years with dual sensory impairment and cochlear implant(s) were recruited from across the United States to participate in an evaluation of language skills using the Reynell-Zinkin Developmental Scales, a tool validated on children with vision impairment and adapted for children with hearing loss. Basic demographic information was also collected from care givers. RESULTS: Ninety-one children completed assessments after implantation. For receptive language abilities, 32% of children obtained a level of sound detection, 15% obtained the ability to understand simple words, 21% could identify words, 5% could follow simple directions, and 22% could follow directions related to the functional use of objects. Four children had no response to sound after cochlear implantation. For expressive language abilities, 49% only had sound production skills, 9% could jargon, 18% could communicate with some words, 12% could communicate with simple sentences, and 12% could communicate with complex sentences. Children with lower developmental ages (or quotients) tended to obtain lower level expressive language skills such as sound production and jargoning. Developmental abilities, rather than age at implant, were the most robust predictor associated with outcomes. DISCUSSION: This information can guide cochlear implant centers when discussing outcomes with families in the cochlear implant candidacy process. There is great heterogeneity in outcomes and caution should be used in discussing possible language outcomes for children with dual sensory impairments.

Objective. To examine the association of intracranial radiographic abnormalities and developmental measures with outcomes in children with congenital symptomatic cytomegalovirus (CMV) and cochlear implants (CI). Design/Methods. It was a retrospective review of 15 children implanted from 2004 to 2010. Preimplant nonverbal intelligence quotient/developmental quotient (IQ/DQ) and head circumference (HC) were obtained. Computed tomography and magnetic resonance imaging of the brain and post-CI audiometry and language assessments were reviewed. Results. Eleven children (73%) had cognitive delay. Most had >1 developmental disability. Median IQ/DQ was 65 (23–90). All had imaging abnormalities. Most imaging abnormalities were in parietal (60%) and temporal (60%) lobes. Children with HC < 5th percentile had poorer median post-CI PTA (38 dB versus 27 dB, ). Periventricular calcifications were associated with lower receptive (, ) and expressive (, ) language. Because IQ/DQ was associated with periventricular calcifications (, ) and small HC (, ), their relationships with language appear partially driven by IQ/DQ. Conclusions. The location of brain abnormalities appears to correlate with worse outcomes after CI. These findings may allow for more accurate counseling of parents regarding anticipated postimplantation performance.

In children who are deaf or hard of hearing (DHH), it is helpful to have meaningful early measures of development in order to provide effective interventions and offer benchmarks that help recognize varied developmental trajectories. The main objective of this study was to compare results of an early developmental assessment prior to 3 years of age to later nonverbal IQ assessed between 3 and 6 years of age in children who are DHH.This study included children 3-6 years of age with bilateral permanent hearing who were enrolled in a prospective cohort study on developmental outcomes. As part of the study, children received the Leiter International Performance Scale-Revised, which provided a nonverbal Brief IQ, as well as standardized language assessment and behavioral checklists. Children were included in this analysis if they had received an early developmental assessment with the Gesell Developmental Schedules-Revised as part of a clinical visit with a developmental pediatrician. Correlation coefficients and multiple regression analysis were used to associate the scores on the Gesell (using a developmental quotient) with scores on the Leiter-R Brief IQ.Forty-five participants who enrolled in the observational study had available evaluation results from the Gesell and complete Brief IQ results from the Leiter-R. The adaptive domain of the Gesell had good correlation (r = 0.61, p 0.0001) with the Brief IQ on the Leiter-R. Children who had stable developmental or intelligence classifications based on scores (70, 70 to85, 85 to100, ≥100) over time were older (24 months) at the early Gesell assessment. Degree of hearing loss or maternal education did not appear to confound the relationship between the Gesell and the Leiter-R.The adaptive domain of the Gesell Developmental Schedules - Revised administered in early childhood (under 3 years of age) has good correlation with the nonverbal Brief IQ on the Leiter International Performance Scale-R. Because children who are DHH have a higher likelihood of having a developmental disability compared to the general population, early developmental assessments are often important. Although early developmental assessments have their limitations, our results indicate that they are fairly robust indicators of later development. Such early indicators can be extremely useful in the clinical and educational management of children who are DHH.

BACKGROUND: Newborn hearing screening has a high participation rate of ∼97% of infants nationally, but a high lost to follow-up of ∼32% limits the effectiveness of the program. This study tested an intervention of targeted outpatient rescreening of infants through collaboration with the Women, Infants, and Children (WIC) program to improve follow-up rates for newborn hearing screen referrals. METHODS: Controlled intervention study of WIC-eligible infants who referred on newborn hearing screens at target hospitals. Hearing rescreens were performed by using screening auditory brainstem response testing by trained research assistants, coordinated with the infant’s WIC appointment. Loss to follow-up rates and age at follow-up were compared with non-WIC infants tracked via the Ohio Department of Health during the same time periods at the same hospitals and at nonintervention hospitals. RESULTS: During a 2-year period, there were 1493 hearing screen referrals at 6 hospitals in the Cincinnati region recorded by the Ohio Department of Health. Of these, 260 WIC-eligible infants were referred to the study. Among WIC-eligible intervention infants, the lost to follow-up rate over 2 years was 9.6%, compared with 28.7% for nonintervention infants in the same hospitals and 18.1% for nonintervention hospitals. The average age of hearing confirmation for the WIC intervention group was 34.8 days, compared with 63.6 days in non-WIC infants. One-third of mothers reported barriers to follow-up. CONCLUSIONS: Collaborating with WIC to provide targeted follow-up for newborn hearing screening improved loss to follow-up rates, decreased the age at hearing confirmation by 1 month, and addressed reported care barriers.